U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

RABGEF1 RAB guanine nucleotide exchange factor 1 [ Homo sapiens (human) ]

Gene ID: 27342, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
RABGEF1provided by HGNC
Official Full Name
RAB guanine nucleotide exchange factor 1provided by HGNC
Primary source
HGNC:HGNC:17676
See related
Ensembl:ENSG00000154710 MIM:609700; AllianceGenome:HGNC:17676
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RAP1; RABEX5; rabex-5
Summary
RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010]
Expression
Ubiquitous expression in bone marrow (RPKM 17.2), testis (RPKM 15.3) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
7q11.21
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (66654567..66811464)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (67874231..68031149)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (66119554..66276451)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ribosomal protein L35 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26085 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:66118787-66119392 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:66119393-66119998 Neighboring gene uncharacterized LOC100996437 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:66119999-66120604 Neighboring gene potassium channel tetramerization domain containing 7 Neighboring gene MPRA-validated peak6548 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66131083-66131823 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66131824-66132563 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:66146939-66147678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66157983-66158483 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66161889-66162390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66192681-66193181 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:66205397-66206063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26087 Neighboring gene uncharacterized LOC107986707 Neighboring gene GrpE like 1, mitochondrial pseudogene Neighboring gene uncharacterized LOC124901840 Neighboring gene GTF2I repeat domain containing 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66297948-66298509 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:66309442-66309942 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:66309943-66310444 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:66313905-66314406 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:66314407-66314906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26090 Neighboring gene general transcription factor IIi pseudogene 23 Neighboring gene RNA, U6 small nuclear 1254, pseudogene

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. RabGEF1 functions as an oncogene in U251 glioblastoma cells and is involved in regulating AKT and Erk pathways. Fan H, et al. Exp Mol Pathol, 2021 Feb. PMID 33166495
  2. Higher RABEX-5 mRNA predicts unfavourable survival in patients with colorectal cancer. Zhang JS, et al. Eur Rev Med Pharmacol Sci, 2017 May. PMID 28617553
  3. Elevated RABEX-5 protein expression predicts poor prognosis in combined small cell lung cancer. Zhang F, et al. Tumour Biol, 2015 Nov. PMID 26002576
  4. Expression of RABEX-5 and its clinical significance in prostate cancer. Zhang H, et al. J Exp Clin Cancer Res, 2014 Apr 9. PMID 24716822, Free PMC Article
  5. Rap1 signaling in endothelial barrier control. Pannekoek WJ, et al. Cell Adh Migr, 2014. PMID 24714377, Free PMC Article

See all (85) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RabGEF1 functions as an oncogene in U251 glioblastoma cells and is involved in regulating AKT and Erk pathways.
    Title: RabGEF1 functions as an oncogene in U251 glioblastoma cells and is involved in regulating AKT and Erk pathways.
  2. The authors demonstrate that RABGEF1, the upstream factor of the endosomal Rab GTPase cascade, is recruited to damaged mitochondria via ubiquitin binding downstream of Parkin. RABGEF1 directs the downstream Rab proteins, RAB5 and RAB7A, to damaged mitochondria, whose associations are further regulated by mitochondrial Rab-GAPs.
    Title: Endosomal Rab cycles regulate Parkin-mediated mitophagy.
  3. RABEX-5 mRNA expression was significantly upregulated in colorectal cancer tissues.
    Title: Higher RABEX-5 mRNA predicts unfavourable survival in patients with colorectal cancer.
  4. we identify Rabex-5 as a Immunomodulatory drugs (IMiDs) target molecule that functions to restrain TLR activated auto-immune promoting pathways. We propose that release of Rabex-5 from complex with Cereblon enables the suppression of immune responses, contributing to the antiinflammatory properties of IMiDs.
    Title: Rabex-5 is a lenalidomide target molecule that negatively regulates TLR-induced type 1 IFN production.
  5. RABGEF1 mediates recycling endosome fusion with GAS-containing autophagosome-like vacuoles through the STX6-VAMP3-VTI1B complex; SNAREs are involved in autophagosome formation in response to bacterial infection
    Title: The STX6-VTI1B-VAMP3 complex facilitates xenophagy by regulating the fusion between recycling endosomes and autophagosomes.
  6. findings reveal a key role for RABGEF1 in dampening keratinocyte-intrinsic MYD88 signaling and sustaining epidermal barrier function
    Title: Guanine nucleotide exchange factor RABGEF1 regulates keratinocyte-intrinsic signaling to maintain skin homeostasis.
  7. The results contradict the model of feedback activation of Rab5 and instead indicate that Rbpt5 is recruited by both Rabex5 recognizing ubiquitylated cargo and by Rab4 to activate Rab5 in a feed-forward manner.
    Title: Rabaptin5 is recruited to endosomes by Rab4 and Rabex5 to regulate endosome maturation.
  8. RABEX-5 is a potential useful indicator and predicts a poor long-term prognosis for small cell lung cancer(SCLC), which should be considered in defining the prognosis with other well-known prognosticators in C-SCLC patients
    Title: Elevated RABEX-5 protein expression predicts poor prognosis in combined small cell lung cancer.
  9. Expression of RABEX-5 is significantly higher in gastric cancer tissues and is associated with tumor size and lymph node metastasis.
    Title: RABEX-5 is upregulated and plays an oncogenic role in gastric cancer development by activating the VEGF signaling pathway.
  10. analysis of Rabex-5 GEF activation by Rabaptin-5
    Title: Molecular mechanism for Rabex-5 GEF activation by Rabaptin-5.
Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ32302

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables guanyl-nucleotide exchange factor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables small GTPase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin protein ligase activity IEA
Inferred from Electronic Annotation
more info
  
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in Kit signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in Ras protein signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in dendritic transport IEA
Inferred from Electronic Annotation
more info
  
involved_in mast cell degranulation IEA
Inferred from Electronic Annotation
more info
  
involved_in mast cell migration IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of Kit signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of Ras protein signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of interleukin-6 production IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of leukocyte migration IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of mast cell activation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of mast cell cytokine production IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of mast cell degranulation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of receptor-mediated endocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in protein targeting to membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in receptor-mediated endocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of Fc receptor mediated stimulatory signaling pathway IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in dendrite IEA
Inferred from Electronic Annotation
more info
  
located_in early endosome IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in early endosome membrane TAS
Traceable Author Statement
more info
  
is_active_in endocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in recycling endosome IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
rab5 GDP/GTP exchange factor
Names
RAB guanine nucleotide exchange factor (GEF) 1
rabaptin-5-associated exchange factor for Rab5

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001287060.2 → NP_001273989.1  rab5 GDP/GTP exchange factor isoform a

    See identical proteins and their annotated locations for NP_001273989.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform a. Variants 1 and 6-8 all encode the same isoform (a).
    Source sequence(s)
    AC027644, AC079588
    UniProtKB/Swiss-Prot
    Q9UJ41
    UniProtKB/TrEMBL
    A0A0A0MSJ3, B3KMF1
    Conserved Domains (2) summary
    pfam02204
    Location:78 → 178
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam18151
    Location:9 → 28
    DUF5601; Domain of unknown function (DUF5601)

  2. NM_001287061.2 → NP_001273990.1  rab5 GDP/GTP exchange factor isoform b

    See identical proteins and their annotated locations for NP_001273990.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains alternate 5' exon structure and includes an additional internal exon, and it thus differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) is longer at the N-terminus, compared to isoform a.
    Source sequence(s)
    AC027644
    UniProtKB/TrEMBL
    E9PFK9
    Related
    ENSP00000403429.1, ENST00000439720.3
    Conserved Domains (2) summary
    pfam01754
    Location:31 → 54
    zf-A20; A20-like zinc finger
    pfam02204
    Location:284 → 384
    VPS9; Vacuolar sorting protein 9 (VPS9) domain

  3. NM_001287062.2 → NP_001273991.1  rab5 GDP/GTP exchange factor isoform c

    See identical proteins and their annotated locations for NP_001273991.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains alternate 5' exon structure and includes an additional internal exon, and it thus differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) is longer at the N-terminus, compared to isoform a. Variants 3, 4, and 9-20 all encode the same isoform (c).
    Source sequence(s)
    AC027644
    Consensus CDS
    CCDS5535.1
    UniProtKB/Swiss-Prot
    B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41
    UniProtKB/TrEMBL
    A8K3R3
    Related
    ENSP00000415815.1, ENST00000450873.6
    Conserved Domains (3) summary
    pfam02204
    Location:270 → 370
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam01754
    Location:17 → 39
    zf-A20; A20-like zinc finger
    pfam18151
    Location:158 → 220
    DUF5601; Domain of unknown function (DUF5601)

  4. NM_001367722.1 → NP_001354651.1  rab5 GDP/GTP exchange factor isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6), as well as variants 1, 7, and 8, encodes isoform a.
    Source sequence(s)
    AC006001, AC027644
    Conserved Domains (2) summary
    pfam02204
    Location:78 → 178
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam18151
    Location:9 → 28
    DUF5601; Domain of unknown function (DUF5601)

  5. NM_001367723.1 → NP_001354652.1  rab5 GDP/GTP exchange factor isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7), as well as variants 1, 6, and 8, encodes isoform a.
    Source sequence(s)
    AC027644, AC079588
    Conserved Domains (2) summary
    pfam02204
    Location:78 → 178
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam18151
    Location:9 → 28
    DUF5601; Domain of unknown function (DUF5601)

  6. NM_001367724.1 → NP_001354653.1  rab5 GDP/GTP exchange factor isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8), as well as variants 1, 6, and 7, encodes isoform a.
    Source sequence(s)
    AC027644
    Conserved Domains (2) summary
    pfam02204
    Location:78 → 178
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam18151
    Location:9 → 28
    DUF5601; Domain of unknown function (DUF5601)

  7. NM_001367725.1 → NP_001354654.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9), as well as variants 3, 4, and 10-20, encodes isoform c.
    Source sequence(s)
    AC006001, AC027644
    Consensus CDS
    CCDS5535.1
    UniProtKB/Swiss-Prot
    B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41
    UniProtKB/TrEMBL
    A8K3R3
    Conserved Domains (3) summary
    pfam02204
    Location:270 → 370
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam01754
    Location:17 → 39
    zf-A20; A20-like zinc finger
    pfam18151
    Location:158 → 220
    DUF5601; Domain of unknown function (DUF5601)

  8. NM_001367726.1 → NP_001354655.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10), as well as variants 3, 4, 9, and 11-20, encodes isoform c.
    Source sequence(s)
    AC006001, AC027644
    Consensus CDS
    CCDS5535.1
    UniProtKB/Swiss-Prot
    B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41
    UniProtKB/TrEMBL
    A8K3R3
    Conserved Domains (3) summary
    pfam02204
    Location:270 → 370
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam01754
    Location:17 → 39
    zf-A20; A20-like zinc finger
    pfam18151
    Location:158 → 220
    DUF5601; Domain of unknown function (DUF5601)

  9. NM_001367727.1 → NP_001354656.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11), as well as variants 3, 4, 9, 10, and 12-20, encodes isoform c.
    Source sequence(s)
    AC006001, AC027644
    Consensus CDS
    CCDS5535.1
    UniProtKB/Swiss-Prot
    B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41
    UniProtKB/TrEMBL
    A8K3R3
    Conserved Domains (3) summary
    pfam02204
    Location:270 → 370
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam01754
    Location:17 → 39
    zf-A20; A20-like zinc finger
    pfam18151
    Location:158 → 220
    DUF5601; Domain of unknown function (DUF5601)

  10. NM_001367728.1 → NP_001354657.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12), as well as variants 3, 4, 9-11, and 13-20, encodes isoform c.
    Source sequence(s)
    AC006001, AC027644
    Consensus CDS
    CCDS5535.1
    UniProtKB/Swiss-Prot
    B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41
    UniProtKB/TrEMBL
    A8K3R3
    Conserved Domains (3) summary
    pfam02204
    Location:270 → 370
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam01754
    Location:17 → 39
    zf-A20; A20-like zinc finger
    pfam18151
    Location:158 → 220
    DUF5601; Domain of unknown function (DUF5601)

  11. NM_001367729.1 → NP_001354658.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (13), as well as variants 3, 4, 9-12, and 14-20, encodes isoform c.
    Source sequence(s)
    AC027644, AC079588
    Consensus CDS
    CCDS5535.1
    UniProtKB/Swiss-Prot
    B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41
    UniProtKB/TrEMBL
    A8K3R3
    Conserved Domains (3) summary
    pfam02204
    Location:270 → 370
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam01754
    Location:17 → 39
    zf-A20; A20-like zinc finger
    pfam18151
    Location:158 → 220
    DUF5601; Domain of unknown function (DUF5601)

  12. NM_001367730.1 → NP_001354659.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (14), as well as variants 3, 4, 9-13, and 15-20, encodes isoform c.
    Source sequence(s)
    AC027644, AC079588
    Consensus CDS
    CCDS5535.1
    UniProtKB/Swiss-Prot
    B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41
    UniProtKB/TrEMBL
    A8K3R3
    Conserved Domains (3) summary
    pfam02204
    Location:270 → 370
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam01754
    Location:17 → 39
    zf-A20; A20-like zinc finger
    pfam18151
    Location:158 → 220
    DUF5601; Domain of unknown function (DUF5601)

  13. NM_001367731.1 → NP_001354660.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (15), as well as variants 3, 4, 9-14, and 16-20, encodes isoform c.
    Source sequence(s)
    AC027644, AC079588
    Consensus CDS
    CCDS5535.1
    UniProtKB/Swiss-Prot
    B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41
    UniProtKB/TrEMBL
    A8K3R3
    Conserved Domains (3) summary
    pfam02204
    Location:270 → 370
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam01754
    Location:17 → 39
    zf-A20; A20-like zinc finger
    pfam18151
    Location:158 → 220
    DUF5601; Domain of unknown function (DUF5601)

  14. NM_001367732.1 → NP_001354661.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (16), as well as variants 3, 4, 9-15, and 17-20, encodes isoform c.
    Source sequence(s)
    AC027644, AC079588
    Consensus CDS
    CCDS5535.1
    UniProtKB/Swiss-Prot
    B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41
    UniProtKB/TrEMBL
    A8K3R3
    Conserved Domains (3) summary
    pfam02204
    Location:270 → 370
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam01754
    Location:17 → 39
    zf-A20; A20-like zinc finger
    pfam18151
    Location:158 → 220
    DUF5601; Domain of unknown function (DUF5601)

  15. NM_001367733.1 → NP_001354662.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (17), as well as variants 3, 4, 9-16, and 18-20, encodes isoform c.
    Source sequence(s)
    AC027644, AC079588
    Consensus CDS
    CCDS5535.1
    UniProtKB/Swiss-Prot
    B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41
    UniProtKB/TrEMBL
    A8K3R3
    Conserved Domains (3) summary
    pfam02204
    Location:270 → 370
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam01754
    Location:17 → 39
    zf-A20; A20-like zinc finger
    pfam18151
    Location:158 → 220
    DUF5601; Domain of unknown function (DUF5601)

  16. NM_001367734.1 → NP_001354663.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (18), as well as variants 3, 4, 9-17, 19, and 20, encodes isoform c.
    Source sequence(s)
    AC027644
    Consensus CDS
    CCDS5535.1
    UniProtKB/Swiss-Prot
    B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41
    UniProtKB/TrEMBL
    A8K3R3
    Conserved Domains (3) summary
    pfam02204
    Location:270 → 370
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam01754
    Location:17 → 39
    zf-A20; A20-like zinc finger
    pfam18151
    Location:158 → 220
    DUF5601; Domain of unknown function (DUF5601)

  17. NM_001367735.1 → NP_001354664.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (19), as well as variants 3, 4, 9-18, and 20, encodes isoform c.
    Source sequence(s)
    AC027644
    Consensus CDS
    CCDS5535.1
    UniProtKB/Swiss-Prot
    B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41
    UniProtKB/TrEMBL
    A8K3R3
    Conserved Domains (3) summary
    pfam02204
    Location:270 → 370
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam01754
    Location:17 → 39
    zf-A20; A20-like zinc finger
    pfam18151
    Location:158 → 220
    DUF5601; Domain of unknown function (DUF5601)

  18. NM_001367736.1 → NP_001354665.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (20), as well as variants 3, 4, and 9-19, encodes isoform c.
    Source sequence(s)
    AC027644
    Consensus CDS
    CCDS5535.1
    UniProtKB/Swiss-Prot
    B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41
    UniProtKB/TrEMBL
    A8K3R3
    Conserved Domains (3) summary
    pfam02204
    Location:270 → 370
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam01754
    Location:17 → 39
    zf-A20; A20-like zinc finger
    pfam18151
    Location:158 → 220
    DUF5601; Domain of unknown function (DUF5601)

  19. NM_001367737.1 → NP_001354666.1  rab5 GDP/GTP exchange factor isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (21), as well as variants 22-24, encodes isoform d.
    Source sequence(s)
    AC006001, AC027644
    UniProtKB/TrEMBL
    A8K3R3
    Conserved Domains (3) summary
    pfam02204
    Location:271 → 371
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam01754
    Location:17 → 39
    zf-A20; A20-like zinc finger
    pfam18151
    Location:159 → 221
    DUF5601; Domain of unknown function (DUF5601)

  20. NM_001367738.1 → NP_001354667.1  rab5 GDP/GTP exchange factor isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (22), as well as variants 21, 23, and 24, encodes isoform d.
    Source sequence(s)
    AC027644, AC079588
    UniProtKB/TrEMBL
    A8K3R3
    Conserved Domains (3) summary
    pfam02204
    Location:271 → 371
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam01754
    Location:17 → 39
    zf-A20; A20-like zinc finger
    pfam18151
    Location:159 → 221
    DUF5601; Domain of unknown function (DUF5601)

  21. NM_001367739.1 → NP_001354668.1  rab5 GDP/GTP exchange factor isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (23), as well as variants 21, 22, and 24, encodes isoform d.
    Source sequence(s)
    AC027644
    UniProtKB/TrEMBL
    A8K3R3
    Conserved Domains (3) summary
    pfam02204
    Location:271 → 371
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam01754
    Location:17 → 39
    zf-A20; A20-like zinc finger
    pfam18151
    Location:159 → 221
    DUF5601; Domain of unknown function (DUF5601)

  22. NM_001367740.1 → NP_001354669.1  rab5 GDP/GTP exchange factor isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (24), as well as variants 21-23, encodes isoform d.
    Source sequence(s)
    AC027644, AC079588
    UniProtKB/TrEMBL
    A8K3R3
    Conserved Domains (3) summary
    pfam02204
    Location:271 → 371
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam01754
    Location:17 → 39
    zf-A20; A20-like zinc finger
    pfam18151
    Location:159 → 221
    DUF5601; Domain of unknown function (DUF5601)

  23. NM_001367741.1 → NP_001354670.1  rab5 GDP/GTP exchange factor isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (25), as well as variant 26, encodes isoform e.
    Source sequence(s)
    AC006001, AC027644
    UniProtKB/TrEMBL
    A8K3R3

  24. NM_001367742.1 → NP_001354671.1  rab5 GDP/GTP exchange factor isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (26), as well as variant 25, encodes isoform e.
    Source sequence(s)
    AC027644
    UniProtKB/TrEMBL
    A8K3R3

  25. NM_001367743.1 → NP_001354672.1  rab5 GDP/GTP exchange factor isoform f precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (27), as well as variant 28, encodes isoform f.
    Source sequence(s)
    AC027644
    UniProtKB/TrEMBL
    A8K3R3

  26. NM_001367744.1 → NP_001354673.1  rab5 GDP/GTP exchange factor isoform f precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (28), as well as variant 27, encodes isoform f.
    Source sequence(s)
    AC027644
    UniProtKB/TrEMBL
    A8K3R3

  27. NM_001367745.1 → NP_001354674.1  rab5 GDP/GTP exchange factor isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (29), as well as variants 30-32, encodes isoform g.
    Source sequence(s)
    AC027644, AC079588
    UniProtKB/TrEMBL
    B3KMF1
    Conserved Domains (2) summary
    pfam02204
    Location:104 → 204
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam18151
    Location:4 → 54
    DUF5601; Domain of unknown function (DUF5601)

  28. NM_001367746.1 → NP_001354675.1  rab5 GDP/GTP exchange factor isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (30), as well as variants 29, 31, and 32, encodes isoform g.
    Source sequence(s)
    AC027644, AC079588
    UniProtKB/TrEMBL
    B3KMF1
    Conserved Domains (2) summary
    pfam02204
    Location:104 → 204
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam18151
    Location:4 → 54
    DUF5601; Domain of unknown function (DUF5601)

  29. NM_001367747.1 → NP_001354676.1  rab5 GDP/GTP exchange factor isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (31), as well as variants 29, 30, and 32, encodes isoform g.
    Source sequence(s)
    AC027644
    UniProtKB/TrEMBL
    B3KMF1
    Conserved Domains (2) summary
    pfam02204
    Location:104 → 204
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam18151
    Location:4 → 54
    DUF5601; Domain of unknown function (DUF5601)

  30. NM_001367748.1 → NP_001354677.1  rab5 GDP/GTP exchange factor isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (32), as well as variants 29-31, encodes isoform g.
    Source sequence(s)
    AC027644
    UniProtKB/TrEMBL
    B3KMF1
    Conserved Domains (2) summary
    pfam02204
    Location:104 → 204
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam18151
    Location:4 → 54
    DUF5601; Domain of unknown function (DUF5601)

  31. NM_001367749.1 → NP_001354678.1  rab5 GDP/GTP exchange factor isoform h

    Status: VALIDATED

    Description
    Transcript Variant: This variant (33), as well as variants 34 and 35, encodes isoform h.
    Source sequence(s)
    AC027644

  32. NM_001367750.1 → NP_001354679.1  rab5 GDP/GTP exchange factor isoform h

    Status: VALIDATED

    Description
    Transcript Variant: This variant (34), as well as variants 33 and 35, encodes isoform h.
    Source sequence(s)
    AC027644

  33. NM_001367751.1 → NP_001354680.1  rab5 GDP/GTP exchange factor isoform h

    Status: VALIDATED

    Description
    Transcript Variant: This variant (35), as well as variants 33 and 34, encodes isoform h.
    Source sequence(s)
    AC027644

  34. NM_001367752.1 → NP_001354681.1  rab5 GDP/GTP exchange factor isoform i

    Status: VALIDATED

    Source sequence(s)
    AC006001, AC027644

  35. NM_001367753.1 → NP_001354682.1  rab5 GDP/GTP exchange factor isoform j

    Status: VALIDATED

    Source sequence(s)
    AC027644
    UniProtKB/TrEMBL
    Q3HKR1

  36. NM_001367754.1 → NP_001354683.1  rab5 GDP/GTP exchange factor isoform k

    Status: VALIDATED

    Source sequence(s)
    AC027644

  37. NM_001367755.1 → NP_001354684.1  rab5 GDP/GTP exchange factor isoform l

    Status: VALIDATED

    Source sequence(s)
    AC027644
    Conserved Domains (3) summary
    pfam02204
    Location:270 → 359
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam01754
    Location:17 → 39
    zf-A20; A20-like zinc finger
    pfam18151
    Location:158 → 220
    DUF5601; Domain of unknown function (DUF5601)

  38. NM_001367756.1 → NP_001354685.1  rab5 GDP/GTP exchange factor isoform m

    Status: VALIDATED

    Source sequence(s)
    AC027644
    UniProtKB/TrEMBL
    A8K3R3

  39. NM_014504.3 → NP_055319.1  rab5 GDP/GTP exchange factor isoform c

    See identical proteins and their annotated locations for NP_055319.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains alternate 5' exon structure and includes an additional internal exon, and it thus differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) is longer at the N-terminus, compared to isoform a. Variants 3, 4, and 9-20 all encode the same isoform (c).
    Source sequence(s)
    AC027644
    Consensus CDS
    CCDS5535.1
    UniProtKB/Swiss-Prot
    B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41
    UniProtKB/TrEMBL
    A8K3R3
    Related
    ENSP00000284957.4, ENST00000284957.9
    Conserved Domains (3) summary
    pfam02204
    Location:270 → 370
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam01754
    Location:17 → 39
    zf-A20; A20-like zinc finger
    pfam18151
    Location:158 → 220
    DUF5601; Domain of unknown function (DUF5601)

RNA

  1. NR_104676.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) includes the same 5' terminal exon but lacks the remaining exons found in variant 1, and it instead contains an alternate 3' terminal exon. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.
    Source sequence(s)
    AC027644, AC079588

  2. NR_160287.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC027644

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    66654567..66811464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    67874231..68031149
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UJ41.3 GenPept UniProtKB/Swiss-Prot:Q9UJ41

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Miscellaneous