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Details on Person UniProt:Q6ZRI8-3 ARHGAP36
| Class:Id | ReferenceIsoform:245623 |
|---|---|
| _chainChangeLog | signal peptide:1-40 added on Fri February 6 2015;chain:41-547 added on Fri February 6 2015 |
| _displayName | UniProt:Q6ZRI8-3 ARHGAP36 |
| _timestamp | 2024-11-03 19:53:39 |
| chain | signal peptide:1-40 chain:41-547 |
| checksum | 28EB8168F3928DF9 |
| comment | FUNCTION GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.SUBUNIT May interacts (via the Rho-GAP domain) with the active form of RAC1.ALTERNATIVE PRODUCTS Detected in the outer root sheath of hair follicles at the level of the stem cell bulge, during the anagen and telogen phases of hair growth (at protein level).DISEASE The gene represented in this entry may be involved in disease pathogenesis. In patients with Bazex-Dupre-Christol syndrome, ARHGAP36 is overexpressed in hair follicles during telogen, in basal cell carcinomas, and in trichoepitheliomas. This is due to small duplications in an intergenic region on chromosome Xq26 that harbor non-coding enhancer elements that control ARHGAP36 expression, and are responsible for disease development.SEQUENCE CAUTION Truncated N-terminus. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: Rho GTPase-activating protein 36 |
| geneName | ARHGAP36 |
| identifier | Q6ZRI8 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing GTPase activation Hypotrichosis Proteomics identification Reference proteome Signal |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9909836] Weiser, Joel, 2024-05-14 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | ARHGAP36 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9004931] ENSEMBL:ENSG00000147256 ARHGAP36 [Homo sapiens] |
| secondaryIdentifier | RHG36_HUMAN B7Z234 B7Z439 Q5JRL9 Q5JRM0 Q5JRM1 Q96NU6 |
| sequenceLength | 547 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | Q6ZRI8-3 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q6ZRI8-3 ARHGAP36 (245623)
