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Entry version 176 (02 Dec 2020)
Sequence version 2 (06 Mar 2007)
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Protein

Rod outer segment membrane protein 1

Gene

ROM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a role in rod outer segment (ROS) morphogenesis (By similarity). May play a role with PRPH2 in the maintenance of the structure of ROS curved disks (By similarity). Plays a role in the organization of the ROS and maintenance of ROS disk diameter (By similarity). Involved in the maintenance of the retina outer nuclear layer (By similarity).By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCell adhesion, Sensory transduction, Vision

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q03395

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Rod outer segment membrane protein 1
Short name:
ROSP1
Alternative name(s):
Tetraspanin-23
Short name:
Tspan-23
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ROM1
Synonyms:TSPAN23
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...
EuPathDBi
HostDB:ENSG00000149489.8

Human Gene Nomenclature Database

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HGNCi
HGNC:10254, ROM1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
180721, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q03395

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 19CytoplasmicSequence analysisAdd BLAST19
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei20 – 44HelicalSequence analysisAdd BLAST25
Topological domaini45 – 64LumenalSequence analysisAdd BLAST20
Transmembranei65 – 84HelicalSequence analysisAdd BLAST20
Topological domaini85 – 102CytoplasmicSequence analysisAdd BLAST18
Transmembranei103 – 125HelicalSequence analysisAdd BLAST23
Topological domaini126 – 263LumenalSequence analysisAdd BLAST138
Transmembranei264 – 286HelicalSequence analysisAdd BLAST23
Topological domaini287 – 351CytoplasmicSequence analysisAdd BLAST65

Keywords - Cellular componenti

Cell projection, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Retinitis pigmentosa 7 (RP7)2 Publications
The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry. A digenic form of retinitis pigmentosa 7 results from a mutation in the PRPH2 gene and a null mutation of the ROM1 gene has been reported (PubMed:8202715).1 Publication
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Related information in OMIM

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
6094

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
ROM1

MalaCards human disease database

More...
MalaCardsi
ROM1
MIMi608133, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000149489

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
791, Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA34626

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q03395, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ROM1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
143745282

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001681111 – 351Rod outer segment membrane protein 1Add BLAST351

Keywords - PTMi

Disulfide bond

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q03395

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q03395

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q03395

PeptideAtlas

More...
PeptideAtlasi
Q03395

PRoteomics IDEntifications database

More...
PRIDEi
Q03395

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
58206

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q03395

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q03395

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Retina photoreceptors (at protein level) (PubMed:1610568, PubMed:8504299). In rim region of ROS disks (PubMed:1610568).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000149489, Expressed in C1 segment of cervical spinal cord and 165 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q03395, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q03395, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000149489, Tissue enriched (retina)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer; disulfide-linked (PubMed:1610568).

Forms a homotetramer (By similarity).

Forms a heterotetramer with PRPH2 (By similarity). Homotetramer and heterotetramer core complexes go on to form higher order complexes by formation of intermolecular disulfide bonds (By similarity).

Interacts with STX3 (By similarity).

Interacts with SNAP25 (By similarity).

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
112021, 4 interactors

Protein interaction database and analysis system

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IntActi
Q03395, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000278833

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q03395, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the PRPH2/ROM1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3882, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159921

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_068903_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q03395

Identification of Orthologs from Complete Genome Data

More...
OMAi
AARYPPW

Database of Orthologous Groups

More...
OrthoDBi
1125466at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q03395

TreeFam database of animal gene trees

More...
TreeFami
TF331684

Family and domain databases

Conserved Domains Database

More...
CDDi
cd03162, peripherin_like_LEL, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.1450.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000830, Peripherin/rom-1
IPR018498, Peripherin/rom-1_CS
IPR042026, Peripherin_LEL
IPR018499, Tetraspanin/Peripherin
IPR008952, Tetraspanin_EC2_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00335, Tetraspanin, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00218, PERIPHERNRDS

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48652, SSF48652, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00930, RDS_ROM1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q03395-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAPVLPLVLP LQPRIRLAQG LWLLSWLLAL AGGVILLCSG HLLVQLRHLG
60 70 80 90 100
TFLAPSCQFP VLPQAALAAG AVALGTGLVG VGASRASLNA ALYPPWRGVL
110 120 130 140 150
GPLLVAGTAG GGGLLVVGLG LALALPGSLD EALEEGLVTA LAHYKDTEVP
160 170 180 190 200
GHCQAKRLVD ELQLRYHCCG RHGYKDWFGV QWVSSRYLDP GDRDVADRIQ
210 220 230 240 250
SNVEGLYLTD GVPFSCCNPH SPRPCLQNRL SDSYAHPLFD PRQPNQNLWA
260 270 280 290 300
QGCHEVLLEH LQDLAGTLGS MLAVTFLLQA LVLLGLRYLQ TALEGLGGVI
310 320 330 340 350
DAGGETQGYL FPSGLKDMLK TAWLQGGVAC RPAPEEAPPG EAPPKEDLSE

A
Length:351
Mass (Da):37,205
Last modified:March 6, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i895C33382B681E84
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PKF5E9PKF5_HUMAN
Rod outer segment membrane protein ...
ROM1
58Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PMR7E9PMR7_HUMAN
Rod outer segment membrane protein ...
ROM1
100Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PS24E9PS24_HUMAN
Rod outer segment membrane protein ...
ROM1
105Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00826916R → H1 PublicationCorresponds to variant dbSNP:rs143166696EnsemblClinVar.1
Natural variantiVAR_00689660P → T1 PublicationCorresponds to variant dbSNP:rs199757012Ensembl.1
Natural variantiVAR_00827075G → D1 PublicationCorresponds to variant dbSNP:rs747140028Ensembl.1
Natural variantiVAR_006897108T → M1 PublicationCorresponds to variant dbSNP:rs146358003EnsemblClinVar.1
Natural variantiVAR_008271118G → A5 PublicationsCorresponds to variant dbSNP:rs1799959Ensembl.1
Natural variantiVAR_006898229R → H in patients with macular dysfunction; macular dysfunction severity is influenced by the presence of a W-172 mutation in PRPH2.. 2 PublicationsCorresponds to variant dbSNP:rs150168119EnsemblClinVar.1
Natural variantiVAR_008272242R → Q1 PublicationCorresponds to variant dbSNP:rs767877192Ensembl.1
Natural variantiVAR_006899265A → T1 PublicationCorresponds to variant dbSNP:rs200272942Ensembl.1
Natural variantiVAR_006900271M → T1 PublicationCorresponds to variant dbSNP:rs137950927EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
L07894 mRNA Translation: AAA60274.1
M96759 Genomic DNA Translation: AAA60272.1
AK313674 mRNA Translation: BAG36425.1
AP001458 Genomic DNA No translation available.
BC008100 mRNA Translation: AAH08100.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS8024.1

Protein sequence database of the Protein Information Resource

More...
PIRi
I54347

NCBI Reference Sequences

More...
RefSeqi
NP_000318.1, NM_000327.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000278833; ENSP00000278833; ENSG00000149489

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6094

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6094

UCSC genome browser

More...
UCSCi
uc001ntv.5, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Mutations of the ROM1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L07894 mRNA Translation: AAA60274.1
M96759 Genomic DNA Translation: AAA60272.1
AK313674 mRNA Translation: BAG36425.1
AP001458 Genomic DNA No translation available.
BC008100 mRNA Translation: AAH08100.1
CCDSiCCDS8024.1
PIRiI54347
RefSeqiNP_000318.1, NM_000327.3

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi112021, 4 interactors
IntActiQ03395, 5 interactors
STRINGi9606.ENSP00000278833

PTM databases

iPTMnetiQ03395
PhosphoSitePlusiQ03395

Polymorphism and mutation databases

BioMutaiROM1
DMDMi143745282

Proteomic databases

jPOSTiQ03395
MassIVEiQ03395
PaxDbiQ03395
PeptideAtlasiQ03395
PRIDEiQ03395
ProteomicsDBi58206

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
28554, 73 antibodies

The DNASU plasmid repository

More...
DNASUi
6094

Genome annotation databases

EnsembliENST00000278833; ENSP00000278833; ENSG00000149489
GeneIDi6094
KEGGihsa:6094
UCSCiuc001ntv.5, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6094
DisGeNETi6094
EuPathDBiHostDB:ENSG00000149489.8

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ROM1
GeneReviewsiROM1
HGNCiHGNC:10254, ROM1
HPAiENSG00000149489, Tissue enriched (retina)
MalaCardsiROM1
MIMi180721, gene
608133, phenotype
neXtProtiNX_Q03395
OpenTargetsiENSG00000149489
Orphaneti791, Retinitis pigmentosa
PharmGKBiPA34626

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3882, Eukaryota
GeneTreeiENSGT00940000159921
HOGENOMiCLU_068903_0_0_1
InParanoidiQ03395
OMAiAARYPPW
OrthoDBi1125466at2759
PhylomeDBiQ03395
TreeFamiTF331684

Enzyme and pathway databases

PathwayCommonsiQ03395

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
6094, 9 hits in 846 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ROM1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
6094
PharosiQ03395, Tbio

Protein Ontology

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PROi
PR:Q03395
RNActiQ03395, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000149489, Expressed in C1 segment of cervical spinal cord and 165 other tissues
ExpressionAtlasiQ03395, baseline and differential
GenevisibleiQ03395, HS

Family and domain databases

CDDicd03162, peripherin_like_LEL, 1 hit
Gene3Di1.10.1450.10, 1 hit
InterProiView protein in InterPro
IPR000830, Peripherin/rom-1
IPR018498, Peripherin/rom-1_CS
IPR042026, Peripherin_LEL
IPR018499, Tetraspanin/Peripherin
IPR008952, Tetraspanin_EC2_sf
PfamiView protein in Pfam
PF00335, Tetraspanin, 1 hit
PRINTSiPR00218, PERIPHERNRDS
SUPFAMiSSF48652, SSF48652, 1 hit
PROSITEiView protein in PROSITE
PS00930, RDS_ROM1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiROM1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q03395
Secondary accession number(s): B2R978
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: March 6, 2007
Last modified: December 2, 2020
This is version 176 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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