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ARHGAP44 Rho GTPase activating protein 44 [ Homo sapiens (human) ]

Gene ID: 9912, updated on 24-Nov-2020

Summary

Official Symbol
ARHGAP44provided by HGNC
Official Full Name
Rho GTPase activating protein 44provided by HGNC
Primary source
HGNC:HGNC:29096
See related
Ensembl:ENSG00000006740 MIM:617716
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
RICH2; NPC-A-10
Expression
Broad expression in brain (RPKM 18.3), colon (RPKM 17.1) and 20 other tissues See more
Orthologs

Genomic context

See ARHGAP44 in Genome Data Viewer
Location:
17p12
Exon count:
22
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (12789498..12991644)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (12692829..12894960)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 670 Neighboring gene uncharacterized LOC105371540 Neighboring gene MYOCD antisense RNA 1 Neighboring gene myocardin Neighboring gene ARHGAP44 and MYOCD antisense RNA 1 Neighboring gene microRNA 1269b Neighboring gene elaC ribonuclease Z 2 Neighboring gene VISTA enhancer hs1497 Neighboring gene long intergenic non-protein coding RNA 2093

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

Associated conditions

Description Tests
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
GeneReviews: Not available
The genetic architecture of economic and political preferences.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0672

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
exocytosis IEA
Inferred from Electronic Annotation
more info
 
modification of dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of Rac protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of filopodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
neurotransmitter receptor transport, endosome to postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of Rac protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of dendritic spine morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
intracellular anatomical structure IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
leading edge membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
leading edge membrane IDA
Inferred from Direct Assay
more info
PubMed 
postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
recycling endosome IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
rho GTPase-activating protein 44
Names
Rho-type GTPase-activating protein RICH2
RhoGAP interacting with CIP4 homologs protein 2
rho GTPase-activating protein RICH2

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_001321164.2NP_001308093.1  rho GTPase-activating protein 44 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC005274, AL080100, BC143855, BC143856, BM993036, DB461035, HY144351
    UniProtKB/TrEMBL
    Q69Z00
    Conserved Domains (3) summary
    cd07619
    Location:13260
    BAR_Rich2; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 2
    pfam15304
    Location:553653
    AKAP2_C; A-kinase anchor protein 2 C-terminus
    cl02570
    Location:249449
    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. NM_001321166.2NP_001308095.1  rho GTPase-activating protein 44 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC005274, AL080100, BC143853, BM993036, DB461035, HY144351
    Consensus CDS
    CCDS82077.1
    UniProtKB/Swiss-Prot
    Q17R89
    UniProtKB/TrEMBL
    Q69Z00
    Related
    ENSP00000342566.3, ENST00000340825.7
    Conserved Domains (3) summary
    cd07619
    Location:13260
    BAR_Rich2; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 2
    pfam15304
    Location:553653
    AKAP2_C; A-kinase anchor protein 2 C-terminus
    cl02570
    Location:249449
    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. NM_001321167.2NP_001308096.1  rho GTPase-activating protein 44 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC005274, AL080100, BC143852, BM993036, DB461035, HY144351
    Consensus CDS
    CCDS82076.1
    UniProtKB/TrEMBL
    E7ERK8, Q69Z00
    Related
    ENSP00000262444.9, ENST00000262444.13
    Conserved Domains (3) summary
    cd07619
    Location:13260
    BAR_Rich2; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 2
    pfam15304
    Location:559659
    AKAP2_C; A-kinase anchor protein 2 C-terminus
    cl02570
    Location:249449
    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_001321168.2NP_001308097.1  rho GTPase-activating protein 44 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC005274, AL080100, BC070074, BC143853, BM993036, DB461035, HY144351
    UniProtKB/Swiss-Prot
    Q17R89
    UniProtKB/TrEMBL
    Q69Z00
    Conserved Domains (3) summary
    cd04386
    Location:49249
    RhoGAP_nadrin; RhoGAP_nadrin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Nadrin-like proteins. Nadrin, also named Rich-1, has been shown to be involved in the regulation of Ca2+-dependent exocytosis in neurons and recently has been ...
    pfam15304
    Location:353453
    AKAP2_C; A-kinase anchor protein 2 C-terminus
    cl12013
    Location:160
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  5. NM_014859.6NP_055674.4  rho GTPase-activating protein 44 isoform 1

    See identical proteins and their annotated locations for NP_055674.4

    Status: VALIDATED

    Source sequence(s)
    AC005274, AL080100, BC117416, BM993036, DA403021, DB461035
    Consensus CDS
    CCDS45616.1
    UniProtKB/Swiss-Prot
    Q17R89
    UniProtKB/TrEMBL
    Q69Z00
    Related
    ENSP00000368994.5, ENST00000379672.10
    Conserved Domains (3) summary
    cd07619
    Location:13260
    BAR_Rich2; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 2
    cl02570
    Location:249449
    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 ...
    cl25751
    Location:558674
    DUF4045; Domain of unknown function (DUF4045)

RNA

  1. NR_135569.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC005274, AL080100, BC143855, BM993036, DB461035, HY144351
    Related
    ENST00000580768.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    12789498..12991644
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256891.2XP_005256948.1  rho GTPase-activating protein 44 isoform X1

    Related
    ENSP00000437542.2, ENST00000544416.6
    Conserved Domains (2) summary
    cl02570
    Location:249449
    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:13260
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
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