OPN5 opsin 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OPN5provided by HGNC
Official Full Name: opsin 5provided by HGNC
Primary source: HGNC:HGNC:19992
See related: Ensembl:ENSG00000124818 MIM:609042; AllianceGenome:HGNC:19992
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PGR12; GPR136; GRP136; TMEM13
Summary: Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This opsin gene is expressed in the eye, brain, testes, and spinal cord. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes peropsin (RRH) and retinal G protein coupled receptor (RGR). Like these other seven-exon opsin genes, this family member may encode a protein with photoisomerase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
Expression: Restricted expression toward testis (RPKM 1.6) See more
Orthologs: mouse all
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Genomic context

Location:: 6p12.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (47782032..47826381)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (47623816..47668165)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (47749768..47794117)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Neuropsin in mental health.
Title: Neuropsin in mental health.
Expression of the hNP gene on the mRNA level, evaluated based on peripheral blood, is significantly higher in the patients with MRD than in the healthy subjects.
Title: Human neuropsin gene in depression.
Data indicate that opsin5 (OPN5) photoreceptor mediates light-induced Ca(2+) response.
Title: Light-induced rapid Ca²⁺ response and MAPK phosphorylation in the cells heterologously expressing human OPN5.
It dissects a schizophrenic susceptibility gene, NRG1.
Title: [Neuropsin signaling as a novel therapeutic target of schizophrenia].
Opn5m may work exclusively as a short wavelength sensor in the brain as well as in the retina with the assistance of an 11-cis-retinal-supplying system.
Title: Evolution of mammalian Opn5 as a specialized UV-absorbing pigment by a single amino acid mutation.
UV photoreceptor in human beings OPN5 triggers a UV-sensitive Gi-mediated signaling pathway in the mammalian tissues.
Title: UV-sensitive photoreceptor protein OPN5 in humans and mice.
Genetic variation of the hNP gene may contribute to molecular mechanisms of bipolar disorder and some aspects of memory and intelligence.
Title: Genetic variations of human neuropsin gene and psychiatric disorders: polymorphism screening and possible association with bipolar disorder and cognitive functions.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

OPN5__6117 (e-PCR)
- UniSTS:468568

NoName (e-PCR)
- UniSTS:486545

NoName (e-PCR)
- UniSTS:495268

Homology

Homologs of the OPN5 gene: The OPN5 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 312 organisms have orthologs with human gene OPN5
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 11-cis retinal binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables G protein-coupled photoreceptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables G protein-coupled photoreceptor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cellular response to UV-A	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to light stimulus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cellular response to light stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in detection of visible light	IEA Inferred from Electronic Annotation more info
involved_in entrainment of circadian clock by photoperiod	ISS Inferred from Sequence or Structural Similarity more info
involved_in hyaloid vascular plexus regression	ISS Inferred from Sequence or Structural Similarity more info
involved_in phototransduction	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in phototransduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in phototransduction, UV	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: opsin-5

Names: G-protein coupled receptor 136; neuropsin; transmembrane protein 13

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_181744.4 → NP_859528.1 opsin-5

See identical proteins and their annotated locations for NP_859528.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript but encodes the supported protein.

Source sequence(s)

AL161622, AL356421

Consensus CDS

CCDS4923.1

UniProtKB/Swiss-Prot

Q6U736, Q86SL5

Related

ENSP00000360255.2, ENST00000371211.7

Conserved Domains (1) summary

cd15074
Location:34 → 316

7tmA_Opsin5_neuropsin; neuropsin (Opsin-5), member of the class A family of seven-transmembrane G protein-coupled receptors

RNA

NR_033806.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two 5' exons but includes a different 5' exon, and also contains an additional internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC042544, BX647224, DB056067

Related

ENST00000244799.4

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

47782032..47826381

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017010416.2 → XP_016865905.1 opsin-5 isoform X6
XM_017010410.2 → XP_016865899.1 opsin-5 isoform X1
XM_017010411.2 → XP_016865900.1 opsin-5 isoform X2
XM_017010413.2 → XP_016865902.1 opsin-5 isoform X3
XM_017010412.2 → XP_016865901.1 opsin-5 isoform X3
XM_047418325.1 → XP_047274281.1 opsin-5 isoform X5
XM_017010414.2 → XP_016865903.1 opsin-5 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

47623816..47668165

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001030051.1: Suppressed sequence

Description

NM_001030051.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.