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Aliases for ROM1 Gene

Aliases for ROM1 Gene

  • Retinal Outer Segment Membrane Protein 1 2 3 5
  • Tetraspanin-23 3 4
  • Tspan-23 3 4
  • TSPAN23 3 4
  • ROSP1 3 4
  • RP7 3
  • ROM 3

External Ids for ROM1 Gene

Previous GeneCards Identifiers for ROM1 Gene

  • GC11P064893
  • GC11P063956
  • GC11P062630
  • GC11P062155
  • GC11P062137
  • GC11P062381
  • GC11P058709

Summaries for ROM1 Gene

Entrez Gene Summary for ROM1 Gene

  • 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]

GeneCards Summary for ROM1 Gene

ROM1 (Retinal Outer Segment Membrane Protein 1) is a Protein Coding gene. Diseases associated with ROM1 include Retinitis Pigmentosa 7 And Digenic and Retinitis Pigmentosa. An important paralog of this gene is PRPH2.

UniProtKB/Swiss-Prot for ROM1 Gene

  • May function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. It is essential for disk morphogenesis.

Gene Wiki entry for ROM1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ROM1 Gene

Genomics for ROM1 Gene

Regulatory Elements for ROM1 Gene

Enhancers for ROM1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ROM1 on UCSC Golden Path with GeneCards custom track

Promoters for ROM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ROM1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ROM1 Gene

Chromosome:
11
Start:
62,611,722 bp from pter
End:
62,615,120 bp from pter
Size:
3,399 bases
Orientation:
Plus strand

Genomic View for ROM1 Gene

Genes around ROM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ROM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ROM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ROM1 Gene

Proteins for ROM1 Gene

  • Protein details for ROM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03395-ROM1_HUMAN
    Recommended name:
    Rod outer segment membrane protein 1
    Protein Accession:
    Q03395
    Secondary Accessions:
    • B2R978

    Protein attributes for ROM1 Gene

    Size:
    351 amino acids
    Molecular mass:
    37205 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Probably forms a complex with a PRPH2 homodimer. Other proteins could associate with this complex in rods.

neXtProt entry for ROM1 Gene

Proteomics data for ROM1 Gene at MOPED

Post-translational modifications for ROM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ROM1 Gene

No data available for DME Specific Peptides for ROM1 Gene

Domains & Families for ROM1 Gene

Gene Families for ROM1 Gene

Suggested Antigen Peptide Sequences for ROM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q03395

UniProtKB/Swiss-Prot:

ROM1_HUMAN :
  • Belongs to the PRPH2/ROM1 family.
Family:
  • Belongs to the PRPH2/ROM1 family.
genes like me logo Genes that share domains with ROM1: view

Function for ROM1 Gene

Molecular function for ROM1 Gene

GENATLAS Biochemistry:
rod photoreceptor outer segment,membrane protein 1
UniProtKB/Swiss-Prot Function:
May function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. It is essential for disk morphogenesis.
genes like me logo Genes that share phenotypes with ROM1: view

Human Phenotype Ontology for ROM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ROM1 Gene

MGI Knock Outs for ROM1:

Animal Model Products

miRNA for ROM1 Gene

miRTarBase miRNAs that target ROM1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for ROM1 Gene

Localization for ROM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ROM1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ROM1 Gene COMPARTMENTS Subcellular localization image for ROM1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for ROM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ROM1: view

Pathways & Interactions for ROM1 Gene

SuperPathways for ROM1 Gene

No Data Available

Interacting Proteins for ROM1 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000278833%0d%0a9606.ENSP00000230381%0d%0a9606.ENSP00000358417%0d%0a9606.ENSP00000270776%0d%0a
Selected Interacting proteins: ENSP00000278833 Q03395-ROM1_HUMAN for ROM1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for ROM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0060042 retina morphogenesis in camera-type eye IEA --
GO:0060219 camera-type eye photoreceptor cell differentiation IEA --
GO:0061298 retina vasculature development in camera-type eye IEA --
genes like me logo Genes that share ontologies with ROM1: view

No data available for Pathways by source and SIGNOR curated interactions for ROM1 Gene

Drugs & Compounds for ROM1 Gene

(2) Drugs for ROM1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for ROM1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ROM1: view

Transcripts for ROM1 Gene

Unigene Clusters for ROM1 Gene

Retinal outer segment membrane protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ROM1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b
SP1: - - -
SP2:
SP3: -

Relevant External Links for ROM1 Gene

GeneLoc Exon Structure for
ROM1
ECgene alternative splicing isoforms for
ROM1

Expression for ROM1 Gene

mRNA expression in normal human tissues for ROM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ROM1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.1).

Protein differential expression in normal tissues from HIPED for ROM1 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ROM1 Gene



SOURCE GeneReport for Unigene cluster for ROM1 Gene Hs.281564

mRNA Expression by UniProt/SwissProt for ROM1 Gene

Q03395-ROM1_HUMAN
Tissue specificity: Retina (photoreceptor). In rim region of ROS (rod outer segment) disks.
genes like me logo Genes that share expression patterns with ROM1: view

Protein tissue co-expression partners for ROM1 Gene

- Elite partner

Primer Products

Orthologs for ROM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ROM1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ROM1 35
  • 85.66 (n)
  • 84.33 (a)
ROM1 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ROM1 35
  • 86.32 (n)
  • 86.04 (a)
ROM1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rom1 35
  • 85.09 (n)
  • 84.62 (a)
Rom1 16
Rom1 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ROM1 35
  • 99.62 (n)
  • 99.43 (a)
ROM1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rom1 35
  • 84.43 (n)
  • 84.9 (a)
oppossum
(Monodelphis domestica)
Mammalia ROM1 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRDS2 36
  • 30 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 31 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii rom1a 36
  • 33 (a)
OneToMany
rom1b 36
  • 38 (a)
OneToMany
Species with no ortholog for ROM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ROM1 Gene

ENSEMBL:
Gene Tree for ROM1 (if available)
TreeFam:
Gene Tree for ROM1 (if available)

Paralogs for ROM1 Gene

Paralogs for ROM1 Gene

(1) SIMAP similar genes for ROM1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ROM1: view

Variants for ROM1 Gene

Sequence variations from dbSNP and Humsavar for ROM1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_006896 -
VAR_006897 -
VAR_006898 -
VAR_006899 -
VAR_006900 -

Structural Variations from Database of Genomic Variants (DGV) for ROM1 Gene

Variant ID Type Subtype PubMed ID
nsv832182 CNV Gain+Loss 17160897
nsv825939 CNV Gain 20364138
nsv897622 CNV Loss 21882294

Variation tolerance for ROM1 Gene

Residual Variation Intolerance Score: 75.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.51; 43.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ROM1 Gene

Human Gene Mutation Database (HGMD)
ROM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ROM1 Gene

Disorders for ROM1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for ROM1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 7 and digenic
  • leber congenital amaurosis 18
retinitis pigmentosa
  • retinitis pigmentosa 1
rom1-related retinitis pigmentosa
vitelliform macular dystrophy
  • best disease
best vitelliform macular dystrophy
  • vitelliform macular dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search ROM1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ROM1_HUMAN
  • Retinitis pigmentosa 7 (RP7) [MIM:608133]: A 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. {ECO:0000269 PubMed:8202715, ECO:0000269 PubMed:9331261}. Note=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). {ECO:0000269 PubMed:8202715}.

Relevant External Links for ROM1

Genetic Association Database (GAD)
ROM1
Human Genome Epidemiology (HuGE) Navigator
ROM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ROM1
genes like me logo Genes that share disorders with ROM1: view

No data available for Genatlas for ROM1 Gene

Publications for ROM1 Gene

  1. Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation. (PMID: 8504299) Bascom R.A. … McInnes R.R. (Hum. Mol. Genet. 1993) 2 3 4 23 67
  2. Update on the molecular genetics of retinitis pigmentosa. (PMID: 11559856) Wang Q. … Traboulsi E.I. (Ophthalmic Genet. 2001) 3 23
  3. Disulfide-mediated oligomerization of Peripherin/Rds and Rom-1 in photoreceptor disk membranes. Implications for photoreceptor outer segment morphogenesis and degeneration. (PMID: 10681511) Loewen C.J. … Molday R.S. (J. Biol. Chem. 2000) 3 23
  4. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. (PMID: 9331261) Dryja T.P. … Berson E.L. (Invest. Ophthalmol. Vis. Sci. 1997) 3 23
  5. Mutation analysis of the ROM1 gene in retinitis pigmentosa. (PMID: 8595413) Bascom R.A. … McInnes R.R. (Hum. Mol. Genet. 1995) 3 23

Products for ROM1 Gene

Sources for ROM1 Gene

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