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ROM1 retinal outer segment membrane protein 1 [ Homo sapiens (human) ]

Gene ID: 6094, updated on 2-Oct-2018

Summary

Official Symbol
ROM1provided by HGNC
Official Full Name
retinal outer segment membrane protein 1provided by HGNC
Primary source
HGNC:HGNC:10254
See related
Ensembl:ENSG00000149489 MIM:180721; Vega:OTTHUMG00000167528
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
ROM; RP7; ROSP1; TSPAN23
Summary
This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 5.2), ovary (RPKM 2.2) and 23 other tissues See more
Orthologs

Genomic context

See ROM1 in Genome Data Viewer
Location:
11q12.3
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (62612741..62615120)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62380213..62382592)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene terminal uridylyl transferase 1, U6 snRNA-specific Neighboring gene metastasis associated 1 family member 2 Neighboring gene echinoderm microtubule associated protein like 3 Neighboring gene beta-1,3-glucuronyltransferase 3 Neighboring gene glucosidase II alpha subunit

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

Related articles in PubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
camera-type eye photoreceptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cell surface receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
retina vasculature development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
photoreceptor outer segment membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
rod outer segment membrane protein 1
Names
tetraspanin-23
tspan-23

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_009845.1 RefSeqGene

    Range
    5001..7380
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000327.3NP_000318.1  rod outer segment membrane protein 1

    See identical proteins and their annotated locations for NP_000318.1

    Status: REVIEWED

    Source sequence(s)
    AK313674, BU731899, DC335199, L07894
    Consensus CDS
    CCDS8024.1
    UniProtKB/Swiss-Prot
    Q03395
    Related
    ENSP00000278833.3, OTTHUMP00000236110, ENST00000278833.3, OTTHUMT00000394929
    Conserved Domains (1) summary
    cd03162
    Location:126265
    peripherin_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), peripherin_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    62612741..62615120
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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