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

Gene ID: 23526, updated on 11-Sep-2019

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
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
Expression
Broad expression in spleen (RPKM 23.6), bone marrow (RPKM 17.0) and 22 other tissues See more
Orthologs

Genomic context

See ARHGAP45 in Genome Data Viewer
Location:
19p13.3
Exon count:
27
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (1065959..1087831)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1065922..1086627)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene calponin 2 Neighboring gene ATP binding cassette subfamily A member 7 Neighboring gene RNA polymerase II subunit E Neighboring gene glutathione peroxidase 4 Neighboring gene strawberry notch homolog 2 Neighboring gene uncharacterized LOC102723798

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
    Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0223

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
azurophil granule lumen TAS
Traceable Author Statement
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
ruffle membrane IEA
Inferred from Electronic Annotation
more info
 
secretory granule lumen TAS
Traceable Author Statement
more info
 

General protein information

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)

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_001258328.3NP_001245257.1  rho GTPase-activating protein 45 isoform 2 precursor

    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)
    AC004151, AK300341, BC048129, BE279735, BX119705, CX871629
    Consensus CDS
    CCDS58637.1
    UniProtKB/Swiss-Prot
    Q92619
    Related
    ENSP00000439601.1, ENST00000539243.6
    Conserved Domains (3) summary
    smart00109
    Location:718763
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    cl02570
    Location:775985
    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:312546
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. NM_001282334.1NP_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, BE279735, BX119705, CX871629, DB157802
    Consensus CDS
    CCDS74243.1
    UniProtKB/Swiss-Prot
    Q92619
    UniProtKB/TrEMBL
    B3KVA9, K7ES92
    Related
    ENSP00000468607.1, ENST00000590577.2
    Conserved Domains (3) summary
    smart00109
    Location:337382
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    cl02570
    Location:394604
    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:31165
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  3. NM_001282335.2NP_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)
    AC004151, AC093066, AK128097, BC048129, BE279735, BU838153, BX119705, CN312499, CX871629
    Consensus CDS
    CCDS74242.1
    UniProtKB/Swiss-Prot
    Q92619
    UniProtKB/TrEMBL
    B3KXW7, F5H1R4
    Related
    ENSP00000438979.1, ENST00000543365.5
    Conserved Domains (3) summary
    smart00109
    Location:585630
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    smart00055
    Location:164239
    FCH; Fes/CIP4 homology domain
    cl02570
    Location:642852
    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_001321232.1NP_001308161.1  rho GTPase-activating protein 45 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC004151, BC035564, BX119705, DB148385
    Consensus CDS
    CCDS82263.1
    UniProtKB/TrEMBL
    K7ES98, Q8IYN3
    Related
    ENSP00000468615.1, ENST00000586866.5
    Conserved Domains (3) summary
    smart00109
    Location:706751
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    smart00055
    Location:285360
    FCH; Fes/CIP4 homology domain
    cl02570
    Location:763973
    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_012292.4NP_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)
    AC004151, BE279735, BX119705, CX871629, D86976, DB135747, DB162560
    Consensus CDS
    CCDS32863.1
    UniProtKB/Swiss-Prot
    Q92619
    Related
    ENSP00000316772.2, ENST00000313093.6
    Conserved Domains (3) summary
    smart00109
    Location:702747
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    smart00055
    Location:281356
    FCH; Fes/CIP4 homology domain
    cl02570
    Location:759969
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    1065959..1087831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722713.2XP_006722776.1  rho GTPase-activating protein 45 isoform X2

    Related
    ENSP00000466401.1, ENST00000590214.5
    Conserved Domains (3) summary
    smart00109
    Location:730775
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    smart00055
    Location:281356
    FCH; Fes/CIP4 homology domain
    cl02570
    Location:787997
    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 ...
  2. XM_011527858.1XP_011526160.1  rho GTPase-activating protein 45 isoform X1

    Conserved Domains (3) summary
    smart00109
    Location:734779
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    smart00055
    Location:285360
    FCH; Fes/CIP4 homology domain
    cl02570
    Location:7911001
    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 ...
  3. XM_024451435.1XP_024307203.1  rho GTPase-activating protein 45 isoform X3

    Conserved Domains (3) summary
    smart00109
    Location:387432
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    cl02570
    Location:444654
    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 bound to ...
    cl12013
    Location:52187
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
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