Protein-coding gene in the species Homo sapiens
| PKD1L1 |
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| Identifiers |
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| Aliases | PKD1L1, PRO19563, polycystin 1 like 1, transient receptor potential channel interacting, HTX8 |
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| External IDs | OMIM: 609721; MGI: 2156538; HomoloGene: 51376; GeneCards: PKD1L1; OMA:PKD1L1 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 7 (human)[1] |
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| | Band | 7p12.3 | Start | 47,740,202 bp[1] |
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| End | 47,948,466 bp[1] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - testicle
- apex of heart
- gonad
- left ventricle
- left testis
- muscle of thigh
- epithelium of colon
- right testis
- gastrocnemius muscle
- right auricle
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| | | More reference expression data |
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| BioGPS | |
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| Gene ontology |
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| Molecular function | - protein binding
- calcium channel activity
| | Cellular component | - integral component of membrane
- plasma membrane
- cell projection
- cilium
- calcium channel complex
- membrane
- ciliary membrane
- non-motile cilium
| | Biological process | - ion transport
- detection of nodal flow
- detection of mechanical stimulus
- calcium ion transmembrane transport
- left/right axis specification
- calcium ion transport
- cell-cell adhesion
| | Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 7: 47.74 – 47.95 Mb | n/a |
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| PubMed search | [2] | [3] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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Polycystin 1 like 1, transient receptor potential channel interacting is a protein that in humans is encoded by the PKD1L1 gene. [4]
Function
This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008].
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000158683 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: Polycystin 1 like 1, transient receptor potential channel interacting". Retrieved 2017-10-16.
Further reading
- Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
