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

Summary

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

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
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 EBI GWAS CatalogPubMed
Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E &#x000cf;&#x000b5;4,and the risk of late-onset Alzheimer disease in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S692E (e-PCR)
- UniSTS:150591

RH25429 (e-PCR)
- UniSTS:16966

RH80177 (e-PCR)
- UniSTS:83962

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 more info	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)

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
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
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 ...
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 ...
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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

1065959..1086628

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

K7ES98
XM_047438546.1 → XP_047294502.1 rho GTPase-activating protein 45 isoform X3
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
XM_047438545.1 → XP_047294501.1 rho GTPase-activating protein 45 isoform X1
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 ...
XM_047438549.1 → XP_047294505.1 rho GTPase-activating protein 45 isoform X6