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RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 [ Homo sapiens (human) ]

Gene ID: 253959, updated on 5-Mar-2024

Summary

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Official Symbol
RALGAPA1provided by HGNC
Official Full Name
Ral GTPase activating protein catalytic subunit alpha 1provided by HGNC
Primary source
HGNC:HGNC:17770
See related
Ensembl:ENSG00000174373 MIM:608884; AllianceGenome:HGNC:17770
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p240; GRIPE; GARNL1; TULIP1; NEDHRIT; RalGAPalpha1
Summary
This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]
Expression
Ubiquitous expression in brain (RPKM 5.4), thyroid (RPKM 5.2) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See RALGAPA1 in Genome Data Viewer
Location:
14q13.2
Exon count:
48
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (35538356..35809295, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (29726082..29997030, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (36007562..36278501, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:36002164-36002988 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:36002989-36003812 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:36003813-36004636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:36004637-36005459 Neighboring gene keratin 18 pseudogene 6 Neighboring gene VISTA enhancer hs348 Neighboring gene INSM transcriptional repressor 2 Neighboring gene uncharacterized LOC124900348 Neighboring gene small nucleolar RNA, H/ACA box 101B Neighboring gene small nucleolar RNA U13 Neighboring gene QRSL1 pseudogene 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:36278151-36278711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:36288541-36289042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5681 Neighboring gene nuclear transport factor 2 pseudogene 2 Neighboring gene BRMS1 like transcriptional repressor

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities. Wagner M, et al. Am J Hum Genet, 2020 Feb 6. PMID 32004447, Free PMC Article
  2. GARNL1, a major RalGAP α subunit in skeletal muscle, regulates insulin-stimulated RalA activation and GLUT4 trafficking via interaction with 14-3-3 proteins. Chen Q, et al. Cell Signal, 2014 Aug. PMID 24768767
  3. TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. Shimojima K, et al. Genomics, 2009 Dec. PMID 19733229
  4. Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue. Schwarzbraun T, et al. Genomics, 2004 Sep. PMID 15498464
  5. Tuberous sclerosis tumor suppressor complex-like complexes act as GTPase-activating proteins for Ral GTPases. Shirakawa R, et al. J Biol Chem, 2009 Aug 7. PMID 19520869, Free PMC Article

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Toxoplasma gondii mitochondrial association factor 1b interactome reveals novel binding partners including Ral GTPase accelerating protein alpha1.
    Title: Toxoplasma gondii mitochondrial association factor 1b interactome reveals novel binding partners including Ral GTPase accelerating protein α1.
  2. Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
    Title: Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
  3. GARNL1/RalGAPalpha1 is amajor RalGAPalphasubunit in skeletal muscle, and is regulated by protein phosphorylation and 14-3-3 binding upon stimulation with insulin or muscle contraction.
    Title: GARNL1, a major RalGAP α subunit in skeletal muscle, regulates insulin-stimulated RalA activation and GLUT4 trafficking via interaction with 14-3-3 proteins.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. Reduced TULIP1 was found in lymphocytes from a developmentally delayed epileptic patient with a microdeletion of 14q13.1q13.3 and in cell lysates from other patients with a missense P297 mutation.
    Title: TULIP1 (RALGAPA1) haploinsufficiency with brain development delay.
  6. RanGAP1 remains associated with RanBP2/Nup358 and the SUMO E2-conjugating enzyme Ubc9 in mitosis.
    Title: RanGAP1*SUMO1 is phosphorylated at the onset of mitosis and remains associated with RanBP2 upon NPC disassembly.
Submit: New GeneRIF Correction

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0884, DKFZp566D133, DKFZp667F074

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activator activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in activation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
ral GTPase-activating protein subunit alpha-1
Names
GAP-related interacting protein to E12
GTPase activating Rap/RanGAP domain-like 1
Ral GTPase activating protein catalytic alpha subunit 1
Ral GTPase activating protein, alpha subunit 1 (catalytic)
tuberin-like protein 1

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_051667.1 RefSeqGene

    Range
    5029..275968
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001283043.3 → NP_001269972.1  ral GTPase-activating protein subunit alpha-1 isoform 3

    See identical proteins and their annotated locations for NP_001269972.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon and uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is longer than isoform 1.
    Source sequence(s)
    AL162311, AY596970, BC150596
    Consensus CDS
    CCDS61439.1
    UniProtKB/Swiss-Prot
    Q6GYQ0
    Related
    ENSP00000371803.3, ENST00000382366.7
    Conserved Domains (1) summary
    pfam02145
    Location:1839 → 2015
    Rap_GAP; Rap/ran-GAP

  2. NM_001283044.3 → NP_001269973.1  ral GTPase-activating protein subunit alpha-1 isoform 4

    See identical proteins and their annotated locations for NP_001269973.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (4) is longer than isoform 1. Variants 4 and 7 encode the same isoform (4). Isoforms 2 and 4 are the same length, but have distinct protein sequences.
    Source sequence(s)
    AB511280, AL137818, AL162311, AY596970, BC042045, BC150596
    Consensus CDS
    CCDS61440.1
    UniProtKB/Swiss-Prot
    Q6GYQ0
    Related
    ENSP00000451877.1, ENST00000553892.2
    Conserved Domains (1) summary
    pfam02145
    Location:1873 → 2049
    Rap_GAP; Rap/ran-GAP

  3. NM_001330075.3 → NP_001317004.1  ral GTPase-activating protein subunit alpha-1 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (5) is longer than isoform 1. Variants 5 and 10 encode the same isoform
    Source sequence(s)
    AL137818, AL160231, AL162311, AY596970
    Consensus CDS
    CCDS81797.1
    UniProtKB/TrEMBL
    A0A1B0GUI1
    Related
    ENSP00000490119.1, ENST00000637992.1

  4. NM_001346243.2 → NP_001333172.1  ral GTPase-activating protein subunit alpha-1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 3' UTR compared to variant 1. Variants 1 and 6 encode the same isoform (1)
    Source sequence(s)
    AL137818, AL160231, AL162311, AY596970
    Consensus CDS
    CCDS32065.1
    UniProtKB/Swiss-Prot
    A6NMA4, B9EK38, C5NU19, O94960, Q6GYP9, Q6GYQ0, Q6ZT23, Q86YF3, Q86YF5, Q8ND69

  5. NM_001346245.2 → NP_001333174.1  ral GTPase-activating protein subunit alpha-1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 3' UTR and contains an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (4) is longer than isoform 1. Variants 4 and 7 encode the same isoform (4). Isoforms 2 and 4 are the same length, but have distinct protein sequences.
    Source sequence(s)
    AL137818, AL160231, AL162311, AY596970
    Consensus CDS
    CCDS61440.1
    UniProtKB/Swiss-Prot
    Q6GYQ0

  6. NM_001346246.2 → NP_001333175.1  ral GTPase-activating protein subunit alpha-1 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 3' structure, which results in a frameshift, compared to variant 1. The encoded isoform (6) is longer and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL137818, AL160231, AL162311, AY596970
    UniProtKB/Swiss-Prot
    Q6GYQ0

  7. NM_001346247.2 → NP_001333176.1  ral GTPase-activating protein subunit alpha-1 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) has multiple differences compared to variant 1. These differences result in a novel 3' UTR and 3' coding region compared to variant 1. The encoded isoform (7) is longer and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL137818, AL160231, AL162311, AY596970
    Consensus CDS
    CCDS91865.1
    UniProtKB/TrEMBL
    H0YJB5
    Related
    ENSP00000451133.2, ENST00000554259.6

  8. NM_001346248.2 → NP_001333177.1  ral GTPase-activating protein subunit alpha-1 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) differs in the 3' UTR, and uses an alternate splice site in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (5) is longer than isoform 1. Variants 5 and 10 encode the same isoform.
    Source sequence(s)
    AL137818, AL160231, AL162311, AY596970
    Consensus CDS
    CCDS81797.1
    UniProtKB/TrEMBL
    A0A1B0GUI1

  9. NM_001346249.2 → NP_001333178.1  ral GTPase-activating protein subunit alpha-1 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) contains an alternate exon in the coding region, and uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (8) is longer than isoform 1.
    Source sequence(s)
    AL137818, AL160231, AL162311, AY596970
    Consensus CDS
    CCDS91864.1
    UniProtKB/TrEMBL
    A0A7P0TAR5
    Related
    ENSP00000506280.1, ENST00000680220.1

  10. NM_014990.3 → NP_055805.1  ral GTPase-activating protein subunit alpha-1 isoform 1

    See identical proteins and their annotated locations for NP_055805.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the shortest isoform (1). Variants 1 and 6 encode the same isoform.
    Source sequence(s)
    AL162311, AY596970
    Consensus CDS
    CCDS32065.1
    UniProtKB/Swiss-Prot
    A6NMA4, B9EK38, C5NU19, O94960, Q6GYP9, Q6GYQ0, Q6ZT23, Q86YF3, Q86YF5, Q8ND69
    Related
    ENSP00000374348.3, ENST00000389698.7
    Conserved Domains (1) summary
    pfam02145
    Location:1826 → 2002
    Rap_GAP; Rap/ran-GAP

  11. NM_194301.4 → NP_919277.2  ral GTPase-activating protein subunit alpha-1 isoform 2

    See identical proteins and their annotated locations for NP_919277.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is longer and has a distinct C-terminus, compared to isoform 1. Isoforms 2 and 4 are the same length, but have distinct protein sequences.
    Source sequence(s)
    AL162311, AY596971
    Consensus CDS
    CCDS32064.1
    UniProtKB/Swiss-Prot
    Q6GYQ0
    Related
    ENSP00000302647.6, ENST00000307138.10
    Conserved Domains (1) summary
    pfam02145
    Location:1826 → 2002
    Rap_GAP; Rap/ran-GAP

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    35538356..35809295 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431182.1 → XP_047287138.1  ral GTPase-activating protein subunit alpha-1 isoform X4

  2. XM_006720100.5 → XP_006720163.1  ral GTPase-activating protein subunit alpha-1 isoform X3

    Conserved Domains (1) summary
    pfam02145
    Location:2285 → 2461
    Rap_GAP; Rap/ran-GAP

  3. XM_005267492.5 → XP_005267549.1  ral GTPase-activating protein subunit alpha-1 isoform X7

    Conserved Domains (1) summary
    pfam02145
    Location:1873 → 2049
    Rap_GAP; Rap/ran-GAP

  4. XM_006720099.4 → XP_006720162.1  ral GTPase-activating protein subunit alpha-1 isoform X2

    Conserved Domains (1) summary
    pfam02145
    Location:2332 → 2508
    Rap_GAP; Rap/ran-GAP

  5. XM_006720098.4 → XP_006720161.1  ral GTPase-activating protein subunit alpha-1 isoform X1

    Conserved Domains (1) summary
    pfam02145
    Location:2332 → 2508
    Rap_GAP; Rap/ran-GAP

  6. XM_006720101.4 → XP_006720164.1  ral GTPase-activating protein subunit alpha-1 isoform X5

    See identical proteins and their annotated locations for XP_006720164.1

    UniProtKB/TrEMBL
    A0A7P0TAR5
    Conserved Domains (1) summary
    pfam02145
    Location:2332 → 2508
    Rap_GAP; Rap/ran-GAP

  7. XM_017021146.2 → XP_016876635.1  ral GTPase-activating protein subunit alpha-1 isoform X8

  8. XM_024449523.2 → XP_024305291.1  ral GTPase-activating protein subunit alpha-1 isoform X10

    Conserved Domains (1) summary
    pfam02145
    Location:1316 → 1492
    Rap_GAP; Rap/ran-GAP

  9. XM_005267498.5 → XP_005267555.1  ral GTPase-activating protein subunit alpha-1 isoform X11

    Conserved Domains (1) summary
    pfam02145
    Location:1067 → 1243
    Rap_GAP; Rap/ran-GAP

  10. XM_011536615.4 → XP_011534917.1  ral GTPase-activating protein subunit alpha-1 isoform X5

    See identical proteins and their annotated locations for XP_011534917.1

    UniProtKB/TrEMBL
    A0A7P0TAR5
    Conserved Domains (1) summary
    pfam02145
    Location:2332 → 2508
    Rap_GAP; Rap/ran-GAP

  11. XM_017021143.3 → XP_016876632.1  ral GTPase-activating protein subunit alpha-1 isoform X6

  12. XM_006720104.5 → XP_006720167.1  ral GTPase-activating protein subunit alpha-1 isoform X9

RNA

  1. XR_007063998.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    29726082..29997030 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375740.1 → XP_054231715.1  ral GTPase-activating protein subunit alpha-1 isoform X4

  2. XM_054375739.1 → XP_054231714.1  ral GTPase-activating protein subunit alpha-1 isoform X3

  3. XM_054375745.1 → XP_054231720.1  ral GTPase-activating protein subunit alpha-1 isoform X7

  4. XM_054375738.1 → XP_054231713.1  ral GTPase-activating protein subunit alpha-1 isoform X2

  5. XM_054375737.1 → XP_054231712.1  ral GTPase-activating protein subunit alpha-1 isoform X1

  6. XM_054375742.1 → XP_054231717.1  ral GTPase-activating protein subunit alpha-1 isoform X5

    UniProtKB/TrEMBL
    A0A7P0TAR5

  7. XM_054375744.1 → XP_054231719.1  ral GTPase-activating protein subunit alpha-1 isoform X12

  8. XM_054375746.1 → XP_054231721.1  ral GTPase-activating protein subunit alpha-1 isoform X8

  9. XM_054375748.1 → XP_054231723.1  ral GTPase-activating protein subunit alpha-1 isoform X10

  10. XM_054375749.1 → XP_054231724.1  ral GTPase-activating protein subunit alpha-1 isoform X11

  11. XM_054375741.1 → XP_054231716.1  ral GTPase-activating protein subunit alpha-1 isoform X5

    UniProtKB/TrEMBL
    A0A7P0TAR5

  12. XM_054375743.1 → XP_054231718.1  ral GTPase-activating protein subunit alpha-1 isoform X6

  13. XM_054375747.1 → XP_054231722.1  ral GTPase-activating protein subunit alpha-1 isoform X9

RNA

  1. XR_008488847.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6GYQ0.1 GenPept UniProtKB/Swiss-Prot:Q6GYQ0

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