ENSG00000128617
Homo sapiens membrane activity OPN1SW receptor retinoid g-protein coupled g rhodopsin-like opsin visual opsins signal integral component cycle events protein-coupled blue sensitive gpcr tm pigments retinal binding site metabolic process transduction signaling
Features Gene ID: ENSG00000128617 Biological name :OPN1SW Synonyms : OPN1SW / opsin 1, short wave sensitive / P03999 Possible biological names infered from orthology : Species: Homo sapiens Chr. number: 7 Strand: -1 Band: q32.1 Gene start: 128772491 Gene end: 128775790 Corresponding Affymetrix probe sets: 208036_at (Human Genome U133 Plus 2.0 Array) Cross references: Ensembl peptide - ENSP00000249389 NCBI entrez gene - 611
See in Manteia .
OMIM - 613522 RefSeq - NM_001708 RefSeq Peptide - NP_001699 swissprot - P03999 swissprot - Q0PJU0 Ensembl - ENSG00000128617 Related genetic diseases (OMIM): 190900 - Colorblindness, tritan, 190900
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 )
Gene Ontology (GO ) cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus system process response to external stimulus detection of stimulus response to abiotic stimulus nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus system process response to external stimulus detection of stimulus response to abiotic stimulus nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus system process response to external stimulus detection of stimulus response to abiotic stimulus nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus system process response to external stimulus detection of stimulus response to abiotic stimulus nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus system process response to external stimulus detection of stimulus response to abiotic stimulus nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus system process response to external stimulus detection of stimulus response to abiotic stimulus nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus system process response to external stimulus detection of stimulus response to abiotic stimulus nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus system process response to external stimulus detection of stimulus response to abiotic stimulus nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus system process response to external stimulus detection of stimulus response to abiotic stimulus nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus system process response to external stimulus detection of stimulus response to abiotic stimulus nitrogen compound metabolic process cellular metabcellular metabolic process primary metaboprimary metabolic process organic substaorganic substance metabolic process cell communicacell communication cellular respocellular response to stimulus system processsystem process response to exresponse to external stimulus detection of sdetection of stimulus response to abresponse to abiotic stimulus nitrogen componitrogen compound metabolic process signaling receptor activity signaling receptor activity signaling receptor activity signaling receptor activity signaling receptor activity signaling receptor activity signaling receptor activity signaling receptor activity signaling receptor activity signaling receptor activity signaling receptor activitysignaling receptor activity cell organelle membrane cell organelle membrane cell organelle membrane cell organelle membrane cell organelle membrane cell organelle membrane cell organelle membrane cell organelle membrane cell organelle membrane cell organelle membrane cellcell organelleorganelle membranemembrane
Pathways (from Reactome )
Phenotype (from MGI , Zfin or HPO ) Abnormality of the eyes Abnormality of the eyes Abnormality of the eyes Abnormality of the eyes Abnormality of the eyes Abnormality of the eyes Abnormality of the eyes Abnormality of the eyes Abnormality of the eyes Abnormality of the eyes Abnormality of the eyesAbnormality of the eyes HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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HP:0000552 Blue-yellow dyschromatopsia
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HP:0008275 Abnormal cone-mediated electroretinogram
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Interacting proteins (from Reactome ) ENSG00000114349 GNAT1 / P11488 / G protein subunit alpha transducin 1 / complex / reaction ENSG00000128617 OPN1SW / P03999 / opsin 1, short wave sensitive / reaction ENSG00000163914 RHO / P08100 / rhodopsin / reaction ENSG00000186469 GNG2 / P59768 / G protein subunit gamma 2 / complex / reaction ENSG00000134183 GNAT2 / P19087 / G protein subunit alpha transducin 2 / complex / reaction ENSG00000102076 OPN1LW / P04000 / opsin 1, long wave sensitive / reaction ENSG00000078369 GNB1 / P62873 / G protein subunit beta 1 / complex / reaction ENSG00000268221 OPN1MW / P04001 / opsin 1, medium wave sensitive / reaction
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