ARHGAP33 Rho GTPase activating protein 33 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARHGAP33provided by HGNC
Official Full Name: Rho GTPase activating protein 33provided by HGNC
Primary source: HGNC:HGNC:23085
See related: Ensembl:ENSG00000004777 MIM:614902; AllianceGenome:HGNC:23085
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SNX26; TCGAP; NOMA-GAP
Summary: This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]
Expression: Broad expression in testis (RPKM 7.3), brain (RPKM 5.7) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.12

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (35775564..35788822)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (38320866..38334124)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (36266466..36279724)

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?

ARHGAP33 is associated with brain phenotypes of patients with schizophrenia.
Title: Emerging roles of ARHGAP33 in intracellular trafficking of TrkB and pathophysiology of neuropsychiatric disorders.
Results show that neurite outgrowth multiadaptor RhoGAP protein, NOMA-GAP, plays an essential role downstream of NGF in promoting neurite outgrowth and extension by recruiting SHP2 and activating Cdc42.
Title: The neurite outgrowth multiadaptor RhoGAP, NOMA-GAP, regulates neurite extension through SHP2 and Cdc42.
Observational study of gene-disease association. (HuGE Navigator)
Title: Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
TCGAP interacts with Fyn and is phosphorylated by Fyn, with tyrosine-406 in the GTPase-activating protein (GAP) domain as a major Fyn-mediated phosphorylation site.
Title: Physical and functional interaction of Fyn tyrosine kinase with a brain-enriched Rho GTPase-activating protein TCGAP.

Submit: New GeneRIF Correction

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

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

RH91709 (e-PCR)
- UniSTS:83718

MARC_4163-4164:996679454:1 (e-PCR)
- UniSTS:269338

SNX26__6878 (e-PCR)
- UniSTS:466468

RH46149 (e-PCR)
- UniSTS:57426

RH75149 (e-PCR)
- UniSTS:90235

RH104456 (e-PCR)
- UniSTS:98780

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of dendritic spine morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynapse assembly	IEA Inferred from Electronic Annotation more info
involved_in response to toxic substance	IEA Inferred from Electronic Annotation more info
involved_in small GTPase-mediated signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cell cortex	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
is_active_in fibrillar center	IBA Inferred from Biological aspect of Ancestor more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: rho GTPase-activating protein 33

Names: neurite outgrowth multiadaptor RhoGAP protein; rho-type GTPase-activating protein 33; sorting nexin 26; tc10/CDC42 GTPase-activating protein

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_001172630.2 → NP_001166101.1 rho GTPase-activating protein 33 isoform 2

See identical proteins and their annotated locations for NP_001166101.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in 5' and 3' coding regions, as compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, has a bigger additional segment and also lacks a smaller segment in the C-terminal region, as compared to isoform 1.

Source sequence(s)

AK127255, BC014084

Consensus CDS

CCDS54254.1

UniProtKB/TrEMBL

B3KU02

Related

ENSP00000368227.5, ENST00000378944.9

Conserved Domains (3) summary

cd11835
Location:54 → 107

SH3_ARHGAP32_33; Src homology 3 domain of Rho GTPase-activating proteins 32 and 33, and similar proteins

cd04384
Location:175 → 369

RhoGAP_CdGAP; RhoGAP_CdGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of CdGAP-like proteins; CdGAP contains an N-terminal RhoGAP domain and a C-terminal proline-rich region, and it is active on both Cdc42 and Rac1 but not RhoA. CdGAP ...

cl02563
Location:1 → 32

PX_domain; The Phox Homology domain, a phosphoinositide binding module
NM_001366178.1 → NP_001353107.1 rho GTPase-activating protein 33 isoform 3

Status: REVIEWED

Source sequence(s)

AC002398

Consensus CDS

CCDS92599.1

UniProtKB/Swiss-Prot

O14552, O14559, O14560, Q6ZSP6, Q96CP3, Q9NT23

UniProtKB/TrEMBL

B3KU02

Related

ENSP00000007510.6, ENST00000007510.9

Conserved Domains (5) summary

cd11835
Location:190 → 243

SH3_ARHGAP32_33; Src homology 3 domain of Rho GTPase-activating proteins 32 and 33, and similar proteins

cd04384
Location:311 → 505

RhoGAP_CdGAP; RhoGAP_CdGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of CdGAP-like proteins; CdGAP contains an N-terminal RhoGAP domain and a C-terminal proline-rich region, and it is active on both Cdc42 and Rac1 but not RhoA. CdGAP ...

cl02563
Location:56 → 168

PX_domain; The Phox Homology domain, a phosphoinositide binding module

cl26464
Location:709 → 1226

Atrophin-1; Atrophin-1 family

cl28033
Location:521 → 869

Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
NM_052948.4 → NP_443180.2 rho GTPase-activating protein 33 isoform 1

See identical proteins and their annotated locations for NP_443180.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AK096338, AK127255, AL137579, BC014084, BC128586

Consensus CDS

CCDS12477.1

UniProtKB/TrEMBL

B3KU02

Related

ENSP00000320038.4, ENST00000314737.9

Conserved Domains (3) summary

cd07299
Location:56 → 168

PX_TCGAP; The phosphoinositide binding Phox Homology domain of Tc10/Cdc42 GTPase-activating protein

cd11835
Location:190 → 243

SH3_ARHGAP32_33; Src homology 3 domain of Rho GTPase-activating proteins 32 and 33, and similar proteins

cd04384
Location:311 → 505

RhoGAP_CdGAP; RhoGAP_CdGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of CdGAP-like proteins; CdGAP contains an N-terminal RhoGAP domain and a C-terminal proline-rich region, and it is active on both Cdc42 and Rac1 but not RhoA. CdGAP ...

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

35775564..35788822

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006722999.3 → XP_006723062.1 rho GTPase-activating protein 33 isoform X2

UniProtKB/TrEMBL

B3KU02

Conserved Domains (3) summary

cd11835
Location:190 → 243

SH3_ARHGAP32_33; Src homology 3 domain of Rho GTPase-activating proteins 32 and 33, and similar proteins

cd04384
Location:312 → 506

RhoGAP_CdGAP; RhoGAP_CdGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of CdGAP-like proteins; CdGAP contains an N-terminal RhoGAP domain and a C-terminal proline-rich region, and it is active on both Cdc42 and Rac1 but not RhoA. CdGAP ...

cl02563
Location:56 → 168

PX_domain; The Phox Homology domain, a phosphoinositide binding module
XM_011526417.2 → XP_011524719.2 rho GTPase-activating protein 33 isoform X4
XM_047438129.1 → XP_047294085.1 rho GTPase-activating protein 33 isoform X5
XM_011526416.2 → XP_011524718.2 rho GTPase-activating protein 33 isoform X3
XM_047438130.1 → XP_047294086.1 rho GTPase-activating protein 33 isoform X6
XM_011526420.2 → XP_011524722.1 rho GTPase-activating protein 33 isoform X7

UniProtKB/TrEMBL

B3KU02

Conserved Domains (3) summary

cd11835
Location:54 → 107

SH3_ARHGAP32_33; Src homology 3 domain of Rho GTPase-activating proteins 32 and 33, and similar proteins

cd04384
Location:176 → 370

RhoGAP_CdGAP; RhoGAP_CdGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of CdGAP-like proteins; CdGAP contains an N-terminal RhoGAP domain and a C-terminal proline-rich region, and it is active on both Cdc42 and Rac1 but not RhoA. CdGAP ...

cl02563
Location:1 → 32

PX_domain; The Phox Homology domain, a phosphoinositide binding module
XM_047438131.1 → XP_047294087.1 rho GTPase-activating protein 33 isoform X8
XM_047438134.1 → XP_047294090.1 rho GTPase-activating protein 33 isoform X14
XM_017026238.2 → XP_016881727.1 rho GTPase-activating protein 33 isoform X12

UniProtKB/TrEMBL

A0A0A0MQQ9, A1A5D2
XM_011526421.3 → XP_011524723.1 rho GTPase-activating protein 33 isoform X13

Conserved Domains (3) summary

cd11835
Location:227 → 280

SH3_ARHGAP32_33; Src homology 3 domain of Rho GTPase-activating proteins 32 and 33, and similar proteins

cd04384
Location:349 → 543

RhoGAP_CdGAP; RhoGAP_CdGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of CdGAP-like proteins; CdGAP contains an N-terminal RhoGAP domain and a C-terminal proline-rich region, and it is active on both Cdc42 and Rac1 but not RhoA. CdGAP ...

cl02563
Location:93 → 205

PX_domain; The Phox Homology domain, a phosphoinositide binding module
XM_047438135.1 → XP_047294091.1 rho GTPase-activating protein 33 isoform X15
XM_011526418.2 → XP_011524720.1 rho GTPase-activating protein 33 isoform X1

UniProtKB/TrEMBL

B3KU02

Conserved Domains (3) summary

cd11835
Location:54 → 107

SH3_ARHGAP32_33; Src homology 3 domain of Rho GTPase-activating proteins 32 and 33, and similar proteins

cd04384
Location:176 → 370

RhoGAP_CdGAP; RhoGAP_CdGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of CdGAP-like proteins; CdGAP contains an N-terminal RhoGAP domain and a C-terminal proline-rich region, and it is active on both Cdc42 and Rac1 but not RhoA. CdGAP ...

cl02563
Location:1 → 32

PX_domain; The Phox Homology domain, a phosphoinositide binding module
XM_006723003.2 → XP_006723066.1 rho GTPase-activating protein 33 isoform X9

Conserved Domains (1) summary

PHA03247
Location:455 → 757

PHA03247; large tegument protein UL36; Provisional
XM_047438132.1 → XP_047294088.1 rho GTPase-activating protein 33 isoform X10
XM_047438133.1 → XP_047294089.1 rho GTPase-activating protein 33 isoform X11