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ARHGAP45 Rho GTPase activating protein 45 [ Homo sapiens (human) ]

Gene ID: 23526, updated on 6-Jun-2024

Summary

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Official Symbol
ARHGAP45provided by HGNC
Official Full Name
Rho GTPase activating protein 45provided by HGNC
Primary source
HGNC:HGNC:17102
See related
Ensembl:ENSG00000180448 MIM:601155; AllianceGenome:HGNC:17102
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
HA-1; HMHA1; HLA-HA1
Summary
Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in spleen (RPKM 23.6), bone marrow (RPKM 17.0) and 22 other tissues See more
Orthologs
mouse all
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Genomic context

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See ARHGAP45 in Genome Data Viewer
Location:
19p13.3
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1065959..1086628)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1030624..1051294)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1065958..1086627)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9652 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1028384-1028559 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1038259-1038760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1038761-1039260 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1041153-1041950 Neighboring gene calponin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9655 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1051115-1051279 Neighboring gene MPRA-validated peak3219 silencer Neighboring gene ATP binding cassette subfamily A member 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1056183-1056682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1061566-1062329 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1063170-1064022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1066609-1067115 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9659 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13580 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9661 Neighboring gene Sharpr-MPRA regulatory region 10458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13581 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9662 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1081390-1082265 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1085889-1086388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1094025-1094560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13583 Neighboring gene RNA polymerase II, I and III subunit E Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13585 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:1100293-1100430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1101543-1102077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9665 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1106419-1107295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1110839-1111758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1111759-1112678 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1112679-1113598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1116907-1117420 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1117421-1117933 Neighboring gene glutathione peroxidase 4 Neighboring gene strawberry notch homolog 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1122338-1122841 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1131030-1131694 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1133023-1133686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1133705-1134206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1134207-1134706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1147791-1148629 Neighboring gene uncharacterized LOC102723798

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. The minor histocompatibility antigen 1 (HMHA1)/ArhGAP45 is a RacGAP and a novel regulator of endothelial integrity. Amado-Azevedo J, et al. Vascul Pharmacol, 2018 Feb. PMID 29174013
  2. Multiple pro-tumorigenic functions of the human minor Histocompatibility Antigen-1 (HA-1) in melanoma progression. Xu P, et al. J Dermatol Sci, 2017 Nov. PMID 28939173
  3. Trophoblast expression of the minor histocompatibility antigen HA-1 is regulated by oxygen and is increased in placentas from preeclamptic women. Linscheid C, et al. Placenta, 2015 Aug. PMID 26095815, Free PMC Article
  4. Secondary anchor polymorphism in the HA-1 minor histocompatibility antigen critically affects MHC stability and TCR recognition. Nicholls S, et al. Proc Natl Acad Sci U S A, 2009 Mar 10. PMID 19234124, Free PMC Article
  5. HA-1 mismatch has significant effect in chronic allograft nephropathy in clinical renal transplantation. Krishnan NS, et al. Transplant Proc, 2007 Jun. PMID 17580157

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ArhGAP45 acts as a Rac-GAP contributing to the balance between formation and disruption of endothelial junctions, which is required for the dynamic regulation of vascular permeability.
    Title: The minor histocompatibility antigen 1 (HMHA1)/ArhGAP45 is a RacGAP and a novel regulator of endothelial integrity.
  2. HMHA1 significantly promotes melanoma cells proliferation, invasion and migration, and prevents cell apoptosis.
    Title: Multiple pro-tumorigenic functions of the human minor Histocompatibility Antigen-1 (HA-1) in melanoma progression.
  3. Placental HA-1 expression is regulated by oxygen and is increased in the syncytial nuclear aggregates and syncytiotrophoblast of preeclamptic as compared to control placentas.
    Title: Trophoblast expression of the minor histocompatibility antigen HA-1 is regulated by oxygen and is increased in placentas from preeclamptic women.
  4. study shows that HMHA1 acts as a RhoGAP to regulate GTPase activity, cytoskeletal remodeling and cell spreading, which are crucial functions in normal hematopoietic and cancer cells
    Title: The human minor histocompatibility antigen 1 is a RhoGAP.
  5. the information on allele and genotype frequencies of HA-1 and HA-2 in a Taiwanese population
    Title: Minor histocompatibility antigen HA-1 and HA-2 polymorphisms in Taiwan: frequency and application in hematopoietic stem cell transplantation.
  6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  7. study examined antigenic presentation & T-cell recognition of HA-1, a prototypic autosomal mHag derived from single nucleotide dimorphism (HA-1(H) versus HA-1(R)) in the HMHA1 gene; results define the molecular mechanisms governing immunogenicity of HA-1
    Title: Secondary anchor polymorphism in the HA-1 minor histocompatibility antigen critically affects MHC stability and TCR recognition.
  8. targeting mHags encoded not only by HMHA1, whose aberrant expression in solid tumors has been reported, but also BCL2A1 may bring about beneficial selective graft-versus-tumor effects
    Title: Aberrant expression of BCL2A1-restricted minor histocompatibility antigens in melanoma cells: application for allogeneic transplantation.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  10. There was no difference in acute rejection rates between the HA-1-matched and -mismatched groups in kidney transplantation.
    Title: HA-1 mismatch has significant effect in chronic allograft nephropathy in clinical renal transplantation.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.
EBI GWAS Catalog

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0223

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 TAS
Traceable Author Statement
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
  
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in azurophil granule lumen TAS
Traceable Author Statement
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in ruffle membrane IEA
Inferred from Electronic Annotation
more info
  
located_in secretory granule lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
rho GTPase-activating protein 45
Names
histocompatibility (minor) HA-1
minor histocompatibility antigen HA-1
minor histocompatibility protein HA-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.

mRNA and Protein(s)

  1. NM_001258328.4 → NP_001245257.1  rho GTPase-activating protein 45 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is longer and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK300341, BC048129, CX871629
    Consensus CDS
    CCDS58637.1
    UniProtKB/TrEMBL
    Q8IYN3
    Related
    ENSP00000439601.1, ENST00000539243.6
    Conserved Domains (3) summary
    smart00109
    Location:718 → 763
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    cl02570
    Location:775 → 985
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
    cl12013
    Location:312 → 546
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  2. NM_001282334.2 → NP_001269263.1  rho GTPase-activating protein 45 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate internal promoter and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at an alternate AUG, and the resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC004151, AK122776, BC048129, CX871629, DB157802
    Consensus CDS
    CCDS74243.1
    UniProtKB/TrEMBL
    B3KVA9, K7ES92
    Related
    ENSP00000468607.1, ENST00000590577.2
    Conserved Domains (3) summary
    smart00109
    Location:337 → 382
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    cl02570
    Location:394 → 604
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
    cl12013
    Location:31 → 165
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  3. NM_001282335.3 → NP_001269264.1  rho GTPase-activating protein 45 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate internal promoter and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at an alternate AUG, and the resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC093066, AK128097, BC048129, BU838153, CN312499, CX871629
    Consensus CDS
    CCDS74242.1
    UniProtKB/TrEMBL
    B3KXW7, F5H1R4
    Related
    ENSP00000438979.1, ENST00000543365.5
    Conserved Domains (3) summary
    smart00109
    Location:585 → 630
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    smart00055
    Location:164 → 239
    FCH; Fes/CIP4 homology domain
    cl02570
    Location:642 → 852
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

  4. NM_001321232.2 → NP_001308161.1  rho GTPase-activating protein 45 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC004151, BC035564, DB148385
    Consensus CDS
    CCDS82263.1
    UniProtKB/TrEMBL
    K7ES98, Q8IYN3
    Related
    ENSP00000468615.1, ENST00000586866.5
    Conserved Domains (3) summary
    smart00109
    Location:706 → 751
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    smart00055
    Location:285 → 360
    FCH; Fes/CIP4 homology domain
    cl02570
    Location:763 → 973
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

  5. NM_012292.5 → NP_036424.2  rho GTPase-activating protein 45 isoform 1 precursor

    See identical proteins and their annotated locations for NP_036424.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    CX871629, D86976, DB135747
    Consensus CDS
    CCDS32863.1
    UniProtKB/Swiss-Prot
    B4DTS4, F6QP70, Q6P189, Q7LE26, Q86WS1, Q8HX84, Q92619, Q9GJN9, Q9GJP0, Q9GJP1, Q9MY24
    UniProtKB/TrEMBL
    A0A2X0U2E5
    Related
    ENSP00000316772.2, ENST00000313093.7
    Conserved Domains (3) summary
    smart00109
    Location:702 → 747
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    smart00055
    Location:281 → 356
    FCH; Fes/CIP4 homology domain
    cl02570
    Location:759 → 969
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    1065959..1086628
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438547.1 → XP_047294503.1  rho GTPase-activating protein 45 isoform X4

    UniProtKB/TrEMBL
    K7ES98, Q8IYN3

  2. XM_047438546.1 → XP_047294502.1  rho GTPase-activating protein 45 isoform X3

    UniProtKB/TrEMBL
    A0A2X0U2E5

  3. XM_047438548.1 → XP_047294504.1  rho GTPase-activating protein 45 isoform X5

    UniProtKB/Swiss-Prot
    B4DTS4, F6QP70, Q6P189, Q7LE26, Q86WS1, Q8HX84, Q92619, Q9GJN9, Q9GJP0, Q9GJP1, Q9MY24
    UniProtKB/TrEMBL
    A0A2X0U2E5

  4. XM_047438545.1 → XP_047294501.1  rho GTPase-activating protein 45 isoform X1

    UniProtKB/TrEMBL
    Q8IYN3

  5. XM_011527858.1 → XP_011526160.1  rho GTPase-activating protein 45 isoform X2

    UniProtKB/TrEMBL
    Q8IYN3
    Conserved Domains (3) summary
    smart00109
    Location:734 → 779
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    smart00055
    Location:285 → 360
    FCH; Fes/CIP4 homology domain
    cl02570
    Location:791 → 1001
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

  6. XM_047438549.1 → XP_047294505.1  rho GTPase-activating protein 45 isoform X6

    UniProtKB/TrEMBL
    B3KVA9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    1030624..1051294
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054320407.1 → XP_054176382.1  rho GTPase-activating protein 45 isoform X4

    UniProtKB/TrEMBL
    Q8IYN3

  2. XM_054320406.1 → XP_054176381.1  rho GTPase-activating protein 45 isoform X3

    UniProtKB/TrEMBL
    A0A2X0U2E5

  3. XM_054320408.1 → XP_054176383.1  rho GTPase-activating protein 45 isoform X5

    UniProtKB/TrEMBL
    A0A2X0U2E5

  4. XM_054320404.1 → XP_054176379.1  rho GTPase-activating protein 45 isoform X1

    UniProtKB/TrEMBL
    Q8IYN3

  5. XM_054320405.1 → XP_054176380.1  rho GTPase-activating protein 45 isoform X2

    UniProtKB/TrEMBL
    Q8IYN3
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92619.2 GenPept UniProtKB/Swiss-Prot:Q92619

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