ENSG00000107165
Homo sapiens | |
Features
| Gene ID: | ENSG00000107165 | | | | | Biological name : | TYRP1 | | | | | Synonyms : | P17643 / tyrosinase related protein 1 / TYRP1 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 9 | | Strand: | 1 | | Band: | p23 | | Gene start: | 12685439 | | Gene end: | 12710290 | | | | | Corresponding Affymetrix probe sets: | 205694_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000370528
Ensembl peptide - ENSP00000419006
Ensembl peptide - ENSP00000373570
NCBI entrez gene - 7306
See in Manteia.
OMIM - 115501
RefSeq - NM_000550
RefSeq Peptide - NP_000541
swissprot - E7EQI3
swissprot - C9JZ52
swissprot - P17643
Ensembl - ENSG00000107165
| | | | | Related genetic diseases (OMIM): | 203290 - Albinism, oculocutaneous, type III, 203290 | | | 612271 - [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR002227 | Tyrosinase copper-binding domain | | IPR008922 | Uncharacterised domain, di-copper centre |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| | HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| | HP:0000992 | Photosensitivity | "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators] |
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| | HP:0001022 | Albinism | |
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| | HP:0001480 | Freckling | |
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| | HP:0002297 | Red hair | |
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| | HP:0007443 | Partial albinism | |
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| | HP:0007730 | Reduced iris pigmentation | |
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Interacting proteins (from Reactome)
No match
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