ARHGAP33 Gene (Protein Coding)

Rho GTPase Activating Protein 33

GC19P038725
GIFtS:
38
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] See more...

Aliases for ARHGAP33 Gene

Aliases for ARHGAP33 Gene

  • Rho GTPase Activating Protein 33 2 3 5
  • TCGAP 2 3 4
  • Rho-Type GTPase-Activating Protein 33 3 4
  • Tc10/CDC42 GTPase-Activating Protein 3 4
  • Rho GTPase-Activating Protein 33 3 4
  • Sorting Nexin 26 2 3
  • SNX26 3 4
  • Neurite Outgrowth Multiadaptor RhoGAP Protein 3
  • Sorting Nexin-26 4
  • NOMA-GAP 3
  • ARHGAP33 5
  • FLJ39019 2

External Ids for ARHGAP33 Gene

Previous HGNC Symbols for ARHGAP33 Gene

  • SNX26

Previous GeneCards Identifiers for ARHGAP33 Gene

  • GC19P036266
  • GC19P032771
  • GC19P035811
  • GC19P035834
  • GC19P037031
  • GC19P037198
  • GC19P037296
  • GC19P037730
  • GC19P035992
  • GC19P036015
  • GC19P036177
  • GC19P036255
  • GC19P036422
  • GC19P036583
  • GC19P036749
  • GC19P036895
  • GC19P038236

Summaries for ARHGAP33 Gene

Entrez Gene Summary for ARHGAP33 Gene

  • 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]

GeneCards Summary for ARHGAP33 Gene

ARHGAP33 (Rho GTPase Activating Protein 33) is a Protein Coding gene. Diseases associated with ARHGAP33 include Noma. Among its related pathways are Signaling by GPCR and p75 NTR receptor-mediated signalling. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and phosphatidylinositol binding. An important paralog of this gene is ARHGAP32.

UniProtKB/Swiss-Prot Summary for ARHGAP33 Gene

  • May be involved in several stages of intracellular trafficking. Could play an important role in the regulation of glucose transport by insulin. May act as a downstream effector of RHOQ/TC10 in the regulation of insulin-stimulated glucose transport (By similarity).

Gene Wiki entry for ARHGAP33 Gene

Additional gene information for ARHGAP33 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGAP33 Gene

Genomics for ARHGAP33 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ARHGAP33 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARHGAP33 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGAP33

Genomic Locations for ARHGAP33 Gene

Latest Assembly
chr19:35,774,532-35,788,822
(GRCh38/hg38)
Size:
14,291 bases
Orientation:
Plus strand

Previous Assembly
chr19:36,266,466-36,279,724
(GRCh37/hg19 by Entrez Gene)
Size:
13,259 bases
Orientation:
Plus strand

chr19:36,265,434-36,279,724
(GRCh37/hg19 by Ensembl)
Size:
14,291 bases
Orientation:
Plus strand

Genomic View for ARHGAP33 Gene

Genes around ARHGAP33 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP33 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP33 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ARHGAP33 Gene

Proteins for ARHGAP33 Gene

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  • Protein details for ARHGAP33 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14559-RHG33_HUMAN
    Recommended name:
    Rho GTPase-activating protein 33
    Protein Accession:
    O14559
    Secondary Accessions:
    • O14552
    • O14560
    • Q6ZSP6
    • Q96CP3
    • Q9NT23

    Protein attributes for ARHGAP33 Gene

    Size:
    1287 amino acids
    Molecular mass:
    137213 Da
    Quaternary structure:
    • Specifically interacts with CDC42 and RHOQ/TC10 through its Rho-GAP domain (By similarity). Interacts with NEK6.
    SequenceCaution:
    • Sequence=AAB81198.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ARHGAP33 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGAP33 Gene

Protein Expression for ARHGAP33 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ARHGAP33 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARHGAP33 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ARHGAP33 Gene

Domains & Families for ARHGAP33 Gene

Gene Families for ARHGAP33 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ARHGAP33 Gene

InterPro:
Blocks:
  • RhoGAP domain
ProtoNet:

Suggested Antigen Peptide Sequences for ARHGAP33 Gene

GenScript: Design optimal peptide antigens:
  • SNX26 protein (A1A5D2_HUMAN)
  • Tc10/CDC42 GTPase-activating protein (RHG33_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14559

UniProtKB/Swiss-Prot:

RHG33_HUMAN :
  • Belongs to the PX domain-containing GAP family.
Domain:
  • Belongs to the PX domain-containing GAP family.
genes like me logo Genes that share domains with ARHGAP33: view

Function for ARHGAP33 Gene

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  6. Cell Lines for research

Molecular function for ARHGAP33 Gene

UniProtKB/Swiss-Prot Function:
May be involved in several stages of intracellular trafficking. Could play an important role in the regulation of glucose transport by insulin. May act as a downstream effector of RHOQ/TC10 in the regulation of insulin-stimulated glucose transport (By similarity).

Phenotypes From GWAS Catalog for ARHGAP33 Gene

Gene Ontology (GO) - Molecular Function for ARHGAP33 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA,IBA 21873635
GO:0005515 protein binding IEA,IPI 16777849
GO:0019901 protein kinase binding IPI 20873783
GO:0035091 phosphatidylinositol binding IEA --
genes like me logo Genes that share ontologies with ARHGAP33: view
genes like me logo Genes that share phenotypes with ARHGAP33: view

Animal Models for ARHGAP33 Gene

MGI Knock Outs for ARHGAP33:

Animal Models for research

miRNA for ARHGAP33 Gene

miRTarBase miRNAs that target ARHGAP33

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGAP33

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARHGAP33 Gene

Localization for ARHGAP33 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARHGAP33 gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 3
cytoskeleton 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARHGAP33 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA,IBA 21873635
GO:0032991 protein-containing complex IDA 20873783
GO:0043197 dendritic spine IEA --
genes like me logo Genes that share ontologies with ARHGAP33: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ARHGAP33 Gene

Pathways & Interactions for ARHGAP33 Gene

genes like me logo Genes that share pathways with ARHGAP33: view

Pathways by source for ARHGAP33 Gene

1 BioSystems pathway for ARHGAP33 Gene
3 Reactome pathways for ARHGAP33 Gene
1 GeneTex pathway for ARHGAP33 Gene

SIGNOR curated interactions for ARHGAP33 Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ARHGAP33 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007264 small GTPase mediated signal transduction IBA 21873635
GO:0009636 response to toxic substance IEA --
GO:0015031 protein transport IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with ARHGAP33: view

Drugs & Compounds for ARHGAP33 Gene

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No Compound Related Data Available

Transcripts for ARHGAP33 Gene

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mRNA/cDNA for ARHGAP33 Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGAP33

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP33 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b · 18c ^ 19 ^ 20 ^
SP1:
SP2: -
SP3: -
SP4:
SP5:
SP6: -
SP7: -
SP8: -
SP9:

ExUns: 21 ^ 22 ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for ARHGAP33 Gene

GeneLoc Exon Structure for
ARHGAP33

Expression for ARHGAP33 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGAP33 Gene

mRNA expression in normal human tissues for ARHGAP33 Gene
mRNA expression by BioGPS for ARHGAP33 GenemRNA expression by GTEx for ARHGAP33 Gene

Protein differential expression in normal tissues from HIPED for ARHGAP33 Gene

This gene is overexpressed in Fetal Brain (34.8) and Heart (34.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ARHGAP33 Gene



Protein tissue co-expression partners for ARHGAP33 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGAP33

SOURCE GeneReport for Unigene cluster for ARHGAP33 Gene:

Hs.515364

Evidence on tissue expression from TISSUES for ARHGAP33 Gene

  • Nervous system(4.7)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with ARHGAP33: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGAP33 Gene

Orthologs for ARHGAP33 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARHGAP33 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
 Mammalia -- 31
  • 94 (a)
 OneToMany
ARHGAP33 30
  • 89.21 (n)
-- 31
  • 76 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia ARHGAP33 31
  • 92 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ARHGAP33 30 31
  • 89.1 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Arhgap33 30 17 31
  • 86.28 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Arhgap33 30
  • 84.5 (n)
Chimpanzee
(Pan troglodytes)
 Mammalia ARHGAP33 31
  • 82 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ARHGAP33 31
  • 63 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves -- 31
  • 52 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia ARHGAP33 31
  • 48 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii arhgap33 31
  • 26 (a)
 ManyToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta CdGAPr 31
  • 17 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes RGD1 31
  • 12 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 45 (a)
 OneToMany
Species where no ortholog for ARHGAP33 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ARHGAP33 Gene

ENSEMBL:
Gene Tree for ARHGAP33 (if available)
TreeFam:
Gene Tree for ARHGAP33 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGAP33: view image

Paralogs for ARHGAP33 Gene

Paralogs for ARHGAP33 Gene

(10) SIMAP similar genes for ARHGAP33 Gene using alignment to 4 proteins:

  • RHG33_HUMAN
  • K7EK14_HUMAN
  • K7EMC2_HUMAN
  • K7EQI6_HUMAN

Pseudogenes.org Pseudogenes for ARHGAP33 Gene

genes like me logo Genes that share paralogs with ARHGAP33: view

Variants for ARHGAP33 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGAP33 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs142645416 Benign: not provided 35,778,541(+) C/T
NM_052948.4(ARHGAP33):c.348C>T (p.Asp116=) 		SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs147288908 Benign: not provided 35,784,256(+) G/A
NM_052948.4(ARHGAP33):c.1506G>A (p.Leu502=) 		SYNONYMOUS
rs1599780959 Likely Benign: not provided 35,780,750(+) C/T
NM_052948.4(ARHGAP33):c.770-7C>T 		INTRON
rs188900207 Benign: not provided 35,785,017(+) G/A
NM_052948.4(ARHGAP33):c.1632G>A (p.Thr544=) 		SYNONYMOUS
rs780247702 Likely Benign: not specified 35,780,821(+) T/C
NM_001172630.2(ARHGAP33):c.421+5T>C 		INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ARHGAP33 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ARHGAP33 Gene

Variant ID Type Subtype PubMed ID
nsv1152678 CNV duplication 26484159
nsv579423 CNV loss 21841781
nsv953286 CNV deletion 24416366

Variation tolerance for ARHGAP33 Gene

Residual Variation Intolerance Score: 4.85% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.07; 50.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGAP33 Gene

Human Gene Mutation Database (HGMD)
ARHGAP33
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP33

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP33 Gene

Disorders for ARHGAP33 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARHGAP33 Gene - From: GCD

Disorder Aliases PubMed IDs
noma
  • cancrum oris
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARHGAP33

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ARHGAP33: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGAP33 Gene

Publications for ARHGAP33 Gene

  1. Characterization of hNek6 interactome reveals an important role for its short N-terminal domain and colocalization with proteins at the centrosome. (PMID: 20873783) Vaz Meirelles G … Kobarg J (Journal of proteome research 2010) 3 4
  2. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Human RhoGAP domain-containing proteins: structure, function and evolutionary relationships. (PMID: 12297274) Peck J … Burbelo PD (FEBS letters 2002) 2 3

ExternalLinks

View latest publications for ARHGAP33 gene in Mastermind

Products for ARHGAP33 Gene

Sources for ARHGAP33 Gene