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UniProt functional annotation for Q8WXI2 | ||
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| UniProt code: Q8WXI2. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
May function as an adapter protein or regulator of Ras signaling pathways. {ECO:0000269|PubMed:14597674}. |
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| Subunit: | |
Interacts with RAF1, RAB2L and RAL GTPase proteins. {ECO:0000269|PubMed:14597674}. |
| Subcellular location: | |
Cytoplasm. Membrane; Peripheral membrane protein. |
| Ptm: | |
Phosphorylated on tyrosine. {ECO:0000269|PubMed:14597674}. |
| Disease: | |
Mental retardation, X-linked, syndromic, Houge type (MRXSHG) [MIM:301008]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSHG is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. Carrier females may be mildly affected. {ECO:0000269|PubMed:25223753, ECO:0000269|PubMed:28098945}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the CNKSR family. {ECO:0000305}. |
| Sequence caution: | |
[Isoform 2]: Sequence=BAA74925.2; Type=Frameshift; Evidence={ECO:0000305}; |
Annotations taken from UniProtKB at the EBI.