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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]
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.
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | p75 NTR receptor-mediated signalling |
.36
|
|
2 | Signaling by GPCR | ||
3 | Signaling by Rho GTPases | ||
4 | Angiopoietin Like Protein 8 Regulatory Pathway |
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 | -- |
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: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
ARHGAP33 30 |
|
||||
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ARHGAP33 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ARHGAP33 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Arhgap33 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Arhgap33 30 |
|
||
Chimpanzee (Pan troglodytes) |
Mammalia | ARHGAP33 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ARHGAP33 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | ARHGAP33 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | arhgap33 31 |
|
ManyToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CdGAPr 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RGD1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
noma |
|
|