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UniProt functional annotation for P16471 | ||
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| UniProt code: P16471. |
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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: | |
This is a receptor for the anterior pituitary hormone prolactin (PRL). Acts as a prosurvival factor for spermatozoa by inhibiting sperm capacitation through suppression of SRC kinase activation and stimulation of AKT. Isoform 4 is unable to transduce prolactin signaling. Isoform 6 is unable to transduce prolactin signaling. {ECO:0000269|PubMed:12580759, ECO:0000269|PubMed:20032052}. |
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| Subunit: | |
Homodimer upon hormone binding. Interacts with SMARCA1. Interacts with GH1. Interacts with CSH. Interacts with NEK3 and VAV2 and this interaction is prolactin-dependent. {ECO:0000269|PubMed:11518703, ECO:0000269|PubMed:15618286, ECO:0000269|PubMed:16546209, ECO:0000269|PubMed:16740656, ECO:0000269|PubMed:18467331}. |
| Subcellular location: | |
Membrane {ECO:0000269|PubMed:11518703, ECO:0000269|PubMed:12580759}; Single-pass type I membrane protein {ECO:0000269|PubMed:11518703, ECO:0000269|PubMed:12580759}. |
| Subcellular location: | |
[Isoform 7]: Secreted. |
| Tissue specificity: | |
Expressed in breast, placenta, kidney, liver and pancreas. {ECO:0000269|PubMed:11518703, ECO:0000269|PubMed:12580759}. |
| Domain: | |
The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding. |
| Domain: | |
The box 1 motif is required for JAK interaction and/or activation. |
| Disease: | |
Multiple fibroadenomas of the breast (MFAB) [MIM:615554]: A benign breast disease marked by lobuloalveolar growth with abnormally high proliferation of the epithelium, and characterized by the presence of more than 3 fibroadenomas in one breast. Fibroadenomas are adenomas containing fibrous tissue. {ECO:0000269|PubMed:18779591}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Disease: | |
Hyperprolactinemia (HPRL) [MIM:615555]: A disorder characterized by increased levels of prolactin in the blood not associated with gestation or the puerperium. HPRL may result in infertility, hypogonadism, and galactorrhea. {ECO:0000269|PubMed:24195502}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Miscellaneous: | |
[Isoform 3]: Soluble isoform that appears specific for the BT-474 breast cancer cell line. {ECO:0000305}. |
| Miscellaneous: | |
[Isoform 4]: Includes exon 11. Does not transduce prolactin signaling. {ECO:0000305}. |
| Miscellaneous: | |
[Isoform 5]: Produced by deletion of part of exon 10 and frameshift. {ECO:0000305}. |
| Miscellaneous: | |
[Isoform 6]: Does not transduce prolactin signaling. {ECO:0000305}. |
| Miscellaneous: | |
[Isoform 7]: Splices from exon 7 to exon 11. {ECO:0000305}. |
| Miscellaneous: | |
[Isoform 8]: SF1b with deletion of exon 4. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. {ECO:0000305}. |
| Similarity: | |
Belongs to the type I cytokine receptor family. Type 1 subfamily. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.