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UniProt functional annotation for Q96EK5 | ||
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| UniProt code: Q96EK5. |
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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: | |
Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and central nervous system development. {ECO:0000269|PubMed:16225668, ECO:0000269|PubMed:20621975, ECO:0000269|PubMed:23427148}. |
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| Subunit: | |
Interacts with KIF1B (PubMed:16225668). Interacts with STMN2 (PubMed:20621975). {ECO:0000269|PubMed:16225668, ECO:0000269|PubMed:20621975}. |
| Subcellular location: | |
Cytoplasm, cytoskeleton {ECO:0000269|PubMed:16225668, ECO:0000269|PubMed:20621975, ECO:0000269|PubMed:23427148}. |
| Tissue specificity: | |
Highly expressed in heart, brain, ovary, testis, spinal cord and all specific brain regions examined. Moderate expressed at intermediate level in all other adult tissues examined, as well as in fetal liver and brain. Not expressed in blood leukocytes. {ECO:0000269|PubMed:10574462, ECO:0000269|PubMed:16225668}. |
| Disease: | |
Goldberg-Shprintzen syndrome (GOSHS) [MIM:609460]: A disorder characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease. {ECO:0000269|PubMed:15883926, ECO:0000269|PubMed:23427148}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the KIF-binding protein family. {ECO:0000305}. |
| Sequence caution: | |
Sequence=BAA86593.1; Type=Erroneous initiation; Evidence={ECO:0000305}; |
Annotations taken from UniProtKB at the EBI.