Arhgap44 Rho GTPase activating protein 44 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Arhgap44provided by MGI
Official Full Name: Rho GTPase activating protein 44provided by MGI
Primary source: MGI:MGI:2144423
See related: Ensembl:ENSMUSG00000033389 AllianceGenome:MGI:2144423
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Rich2; 6330543G20
Summary: Enables GTPase activator activity and small GTPase binding activity. Involved in several processes, including negative regulation of Rac protein signal transduction; regulation of dendritic spine morphogenesis; and regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane. Located in dendritic spine. Is active in glutamatergic synapse. Is expressed in central nervous system; olfactory epithelium; respiratory system; and retina. Human ortholog(s) of this gene implicated in acquired immunodeficiency syndrome and skin melanoma. Orthologous to human ARHGAP44 (Rho GTPase activating protein 44). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in cerebellum adult (RPKM 17.6), frontal lobe adult (RPKM 14.1) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B3; 11 40.42 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (64892865..65053779, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (65002039..65162972, complement)

Chromosome 11 - NC_000077.7 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
RICH2 knockout animals display a selective and highly significant fear of novel objects and increased stereotypic behavior as well as impairment of motor learning.
Title: Enlarged dendritic spines and pronounced neophobia in mice lacking the PSD protein RICH2.
These results suggested that Rich2 controls dendritic spine morphogenesis and function via inhibition of Rac1.
Title: Rho-GTPase-activating protein interacting with Cdc-42-interacting protein 4 homolog 2 (Rich2): a new Ras-related C3 botulinum toxin substrate 1 (Rac1) GTPase-activating protein that controls dendritic spine morphogenesis.
Knock-down of Rich2 or disruption of Rich2-Shank3 complex, inhibits dendritic spine enlargement.
Title: Shank3-Rich2 interaction regulates AMPA receptor recycling and synaptic long-term potentiation.
Shows that the RhoGAP domain of the human RICH2 ortholog 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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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI840762 (e-PCR)
- UniSTS:180230

RH125885 (e-PCR)
- UniSTS:141833

NoName (e-PCR)
- UniSTS:236614

AU040829 (e-PCR)
- UniSTS:160108

RH124888 (e-PCR)
- UniSTS:161710

RH138269 (e-PCR)
- UniSTS:220356

NoName (e-PCR)
- UniSTS:224505

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activator activity	ISO Inferred from Sequence Orthology more info
enables GTPase activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables phospholipid binding	IEA Inferred from Electronic Annotation more info
enables phospholipid binding	ISO Inferred from Sequence Orthology more info
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in modification of dendritic spine	IBA Inferred from Biological aspect of Ancestor more info
involved_in modification of postsynaptic structure	IDA Inferred from Direct Assay more info	PubMed
involved_in modulation of chemical synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in modulation of chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of Rac protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of Rac protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of filopodium assembly	ISO Inferred from Sequence Orthology 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 dendritic spine morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in dendrite	ISO Inferred from Sequence Orthology 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 dendritic spine	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
is_active_in leading edge membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in leading edge membrane	IEA Inferred from Electronic Annotation more info
located_in leading edge membrane	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynapse	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic density	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic density	ISO Inferred from Sequence Orthology more info
located_in postsynaptic density	ISO Inferred from Sequence Orthology more info
located_in presynapse	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic active zone	IBA Inferred from Biological aspect of Ancestor more info
located_in presynaptic active zone	IEA Inferred from Electronic Annotation more info
is_active_in presynaptic active zone	ISO Inferred from Sequence Orthology more info
located_in presynaptic active zone	ISO Inferred from Sequence Orthology 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 GTPase-activating protein RICH2; Rho-type GTPase-activating protein RICH2; RhoGAP interacting with CIP4 homologs protein 2

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_001099288.2 → NP_001092758.1 rho GTPase-activating protein 44 isoform 1

Status: VALIDATED

Source sequence(s)

AL663045

UniProtKB/Swiss-Prot

Q5SSM3

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 ...

cl21455
Location:553 → 620

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001408223.1 → NP_001395152.1 rho GTPase-activating protein 44 isoform 3

Status: VALIDATED

Source sequence(s)

AL663045

UniProtKB/Swiss-Prot

Q5SSM3, Q5SSM4, Q5SSM6, Q5SSM7, Q7TNB9, Q8BW90

Related

ENSMUSP00000090681.6, ENSMUST00000093002.12
NM_001408224.1 → NP_001395153.1 rho GTPase-activating protein 44 isoform 4

Status: VALIDATED

Source sequence(s)

AL663045
NM_001408226.1 → NP_001395155.1 rho GTPase-activating protein 44 isoform 5

Status: VALIDATED

Source sequence(s)

AL663045
NM_001408228.1 → NP_001395157.1 rho GTPase-activating protein 44 isoform 6

Status: VALIDATED

Source sequence(s)

AL663045
NM_175003.4 → NP_778168.2 rho GTPase-activating protein 44 isoform 2

See identical proteins and their annotated locations for NP_778168.2

Status: VALIDATED

Source sequence(s)

AL663045

Consensus CDS

CCDS36180.1

UniProtKB/TrEMBL

F6T1Y2

Related

ENSMUSP00000039139.9, ENSMUST00000047463.15

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 ...

cl21455
Location:553 → 620

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

64892865..65053779 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030245812.2 → XP_030101672.1 rho GTPase-activating protein 44 isoform X4

UniProtKB/TrEMBL

F6T1Y2

Conserved Domains (3) summary

PHA03247
Location:436 → 716

PHA03247; large tegument protein UL36; Provisional

cl02570
Location:156 → 356

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:1 → 167

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_006532874.5 → XP_006532937.1 rho GTPase-activating protein 44 isoform X4

UniProtKB/TrEMBL

F6T1Y2

Related

ENSMUSP00000115612.2, ENSMUST00000130420.8

Conserved Domains (3) summary

PHA03247
Location:436 → 716

PHA03247; large tegument protein UL36; Provisional

cl02570
Location:156 → 356

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:1 → 167

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