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

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; AllianceGenome:HGNC:29096
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
Summary: Enables phospholipid binding activity. Predicted to be involved in several processes, including modification of dendritic spine; negative regulation of Rac protein signal transduction; and regulation of plasma membrane bounded cell projection organization. Located in leading edge membrane. Implicated in acquired immunodeficiency syndrome and skin melanoma. Biomarker of hepatocellular carcinoma and lung carcinoma. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in brain (RPKM 18.3), colon (RPKM 17.1) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p12

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (12789498..12991643)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (12696985..12899110)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (12692815..12894960)

Chromosome 17 - NC_000017.11 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 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?

ARHGAP44-mediated regulation of the p53/C-myc/Cyclin D1 pathway in modulating the malignant biological behavior of osteosarcoma cells.
Title: ARHGAP44-mediated regulation of the p53/C-myc/Cyclin D1 pathway in modulating the malignant biological behavior of osteosarcoma cells.
RICH2 decreases the mitochondrial number and affects mitochondrial localization in diffuse low-grade glioma-related epilepsy.
Title: RICH2 decreases the mitochondrial number and affects mitochondrial localization in diffuse low-grade glioma-related epilepsy.
CD317 mediates immunocytolysis resistance by RICH2/cytoskeleton-dependent membrane protection.
Title: CD317 mediates immunocytolysis resistance by RICH2/cytoskeleton-dependent membrane protection.
Rho GTPase-activating protein RICH2 (RICH2) is downregulated in hepatocellular carcinoma (HCC).
Title: RICH2, a potential tumor suppressor in hepatocellular carcinoma.
Rho GTPase activating protein 44 (ARHGAP44) expression is lower in lung carcinoma compared with normal tissues. The GTP hydrolysis activity on cell division cycle 42 (Cdc42) and the expression level of ARHGAP44 are negatively correlated with cell migration and invasion.
Title: Mutant p53 promotes cell spreading and migration via ARHGAP44.
RICH2 is implicated in viremic control of HIV-1 in black South African individuals.
Title: RICH2 is implicated in viraemic control of HIV-1 in black South African individuals.
Besides the already known chromosome 6 associations, the analysis of low-frequency single nucleotide polymorphisms brought up a new association in the RICH2 gene for progression to AIDS.
Title: Screening low-frequency SNPS from genome-wide association study reveals a new risk allele for progression to AIDS.
Knocking down expression of RICH 2 causes loss of the apical actin network and apical microvilli, an increase in actin bundles at the basal surface, and a reduction in cell height. (RICH 2 protein)
Title: A CD317/tetherin-RICH2 complex plays a critical role in the organization of the subapical actin cytoskeleton in polarized epithelial cells.
Demonstrates that the RhoGAP domains of RICH-1 and RICH-2 can catalyze GTP hydrolysis of both Rac1 and Cdc42, but not of RhoA.
Title: Rich, a rho GTPase-activating protein domain-containing protein involved in signaling by Cdc42 and Rac1.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. EBI GWAS Catalog EBI GWAS CatalogPubMed
The genetic architecture of economic and political preferences. 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

D17S947 (e-PCR)
- UniSTS:84236

MARC_7897-7898:996688141:1 (e-PCR)
- UniSTS:269850

SHGC-132349 (e-PCR)
- UniSTS:170787

RH45714 (e-PCR)
- UniSTS:84609

D17S1477E (e-PCR)
- UniSTS:151683

STS-N70341 (e-PCR)
- UniSTS:33206

D17S947 (e-PCR)
- UniSTS:74957

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 GTPase activator activity	TAS Traceable Author Statement more info
enables phospholipid binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in exocytosis	IEA Inferred from Electronic Annotation more info
involved_in modification of dendritic spine	IBA Inferred from Biological aspect of Ancestor more info
involved_in modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of Rac protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of filopodium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in neurotransmitter receptor transport, endosome to postsynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of GTPase activity	IEA Inferred from Electronic Annotation more info
involved_in regulation of GTPase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of dendritic spine morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane	IEA Inferred from Electronic Annotation 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 cytosol	TAS Traceable Author Statement more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
is_active_in dendritic spine	IBA Inferred from Biological aspect of Ancestor more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in leading edge membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in leading edge membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in postsynaptic density	IBA Inferred from Biological aspect of Ancestor more info
is_active_in presynaptic active zone	IBA Inferred from Biological aspect of Ancestor more info
located_in recycling endosome	IEA Inferred from Electronic Annotation more info

General protein information

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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)

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

Status: VALIDATED

Source sequence(s)

AC005274, AL080100, BC143855, BC143856, BM993036, DB461035, HY144351

UniProtKB/TrEMBL

A0A2X0U4K4

Conserved Domains (3) summary

cd07619
Location:13 → 260

BAR_Rich2; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 2

pfam15304
Location:553 → 653

AKAP2_C; A-kinase anchor protein 2 C-terminus

cl02570
Location:249 → 449

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_001321166.2 → NP_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/TrEMBL

A0A2X0U4K4

Related

ENSP00000342566.3, ENST00000340825.7

Conserved Domains (3) summary

cd07619
Location:13 → 260

BAR_Rich2; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 2

pfam15304
Location:553 → 653

AKAP2_C; A-kinase anchor protein 2 C-terminus

cl02570
Location:249 → 449

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_001321167.2 → NP_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

A0A2X0U4K4, E7ERK8

Related

ENSP00000262444.9, ENST00000262444.13

Conserved Domains (3) summary

cd07619
Location:13 → 260

BAR_Rich2; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 2

pfam15304
Location:559 → 659

AKAP2_C; A-kinase anchor protein 2 C-terminus

cl02570
Location:249 → 449

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_001321168.2 → NP_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:49 → 249

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:353 → 453

AKAP2_C; A-kinase anchor protein 2 C-terminus

cl12013
Location:1 → 60

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_014859.6 → NP_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

A6NCP5, A8MQB2, O75160, Q17R89, Q7Z5Z7, Q9Y4Q4

UniProtKB/TrEMBL

A0A2X0U4K4

Related

ENSP00000368994.5, ENST00000379672.10

Conserved Domains (3) summary

cd07619
Location:13 → 260

BAR_Rich2; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 2

cl02570
Location:249 → 449

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:558 → 674

DUF4045; Domain of unknown function (DUF4045)

RNA

NR_135569.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC005274, AL080100, BC143855, BM993036, DB461035, HY144351

Related

ENST00000580768.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

12789498..12991643

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047437221.1 → XP_047293177.1 rho GTPase-activating protein 44 isoform X2
XM_005256891.3 → XP_005256948.1 rho GTPase-activating protein 44 isoform X1

UniProtKB/TrEMBL

A0A2X0U4K4

Related

ENSP00000437542.2, ENST00000544416.6

Conserved Domains (2) summary

cl02570
Location:249 → 449

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:13 → 260

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_047437223.1 → XP_047293179.1 rho GTPase-activating protein 44 isoform X4
XM_047437222.1 → XP_047293178.1 rho GTPase-activating protein 44 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

12696985..12899110

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054318088.1 → XP_054174063.1 rho GTPase-activating protein 44 isoform X2
XM_054318087.1 → XP_054174062.1 rho GTPase-activating protein 44 isoform X1
XM_054318090.1 → XP_054174065.1 rho GTPase-activating protein 44 isoform X4
XM_054318086.1 → XP_054174061.1 rho GTPase-activating protein 44 isoform X5

UniProtKB/TrEMBL

E7ERK8
XM_054318089.1 → XP_054174064.1 rho GTPase-activating protein 44 isoform X3