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 stabilizati... See more...

Aliases for ROM1 Gene

Aliases for ROM1 Gene

  • Retinal Outer Segment Membrane Protein 1 2 3 5
  • Rod Outer Segment Membrane Protein 1 3 4
  • Tetraspanin-23 3 4
  • TSPAN23 3 4
  • ROSP1 3 4
  • Tspan-23 4
  • ROM 3
  • RP7 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 Retinitis Pigmentosa. An important paralog of this gene is PRPH2.

UniProtKB/Swiss-Prot Summary for ROM1 Gene

  • 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).

Gene Wiki entry for ROM1 Gene

Additional gene information for ROM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ROM1 Gene

Genomics for ROM1 Gene

GeneHancer (GH) Regulatory Elements for ROM1 Gene

Promoters and enhancers for ROM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J062597 Promoter/Enhancer 2.2 VISTA EPDnew Ensembl ENCODE CraniofacialAtlas 500.4 -11.0 -10966 6.5 EP300 FOXK2 HNRNPK ZBTB40 SIN3A NRF1 MYC TCF12 POLR2G USF1 MTA2 lnc-EML3-1 ROM1 EML3 GANAB ENSG00000256690 CSKMT SNHG1 STX5 NXF1
GH11J062610 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.0 1041 5.3 ZBTB40 CTCF SIN3A GTF2E2 ZIC2 ZBTB10 ZNF263 ZBTB11 ZNF423 AFF1 EML3 ROM1 lnc-CSKMT-3 WDR74 INTS5 CSKMT UBXN1 TUT1 LRRN4CL GANAB
GH11J062669 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.4 +59.8 59767 4.2 ZBTB40 ZNF217 EP300 NRF1 TCF12 MYC POLR2G SP1 GTF2E2 ZFX LBHD1 lnc-C11orf98-2 UQCC3 EML3 GANAB STX5 B3GAT3 NXF1 MTA2 SNHG1
GH11J063563 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +954.3 954284 5.8 ZBTB40 ZNF217 TCF12 SP1 JUND FOS EP300 POLR2A ZBTB11 AFF1 PLAAT2 PLAAT4 KCNK4 RCOR2 ENSG00000203520 PLAAT3 ENSG00000256789 ROM1 OTUB1 RF00017-936
GH11J062712 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 11.1 +102.4 102363 3.8 FOXA2 ZNF316 ZNF592 ZBTB33 RBM22 FOSL1 JUND NR2F1 NFE2 RAD21 piR-45619 HNRNPUL2 TTC9C UBXN1 LBHD1 LRRN4CL POLR2G GANAB UQCC3 B3GAT3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ROM1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ROM1

Top Transcription factor binding sites by QIAGEN in the ROM1 gene promoter:
  • CREB
  • CUTL1
  • deltaCREB
  • p53
  • Sp1

Genomic Locations for ROM1 Gene

Genomic Locations for ROM1 Gene
chr11:62,611,722-62,615,120
(GRCh38/hg38)
Size:
3,399 bases
Orientation:
Plus strand
chr11:62,379,194-62,382,592
(GRCh37/hg19)
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 (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).

neXtProt entry for ROM1 Gene

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ROM1 Gene

Suggested Antigen Peptide Sequences for ROM1 Gene

GenScript: Design optimal peptide antigens:
  • Tetraspanin-23 (ROM1_HUMAN)

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

UniProtKB/Swiss-Prot Function:
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).
GENATLAS Biochemistry:
rod photoreceptor outer segment,membrane protein 1

Phenotypes From GWAS Catalog for ROM1 Gene

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

CRISPR Products

miRNA for ROM1 Gene

miRTarBase miRNAs that target ROM1

Clone Products

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

Photoreceptor inner segment membrane; Multi-pass membrane protein. Photoreceptor outer segment membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ROM1 gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytoskeleton 2
cytosol 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ROM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA,TAS 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0042622 photoreceptor outer segment membrane IEA --
genes like me logo Genes that share ontologies with ROM1: view

Pathways & Interactions for ROM1 Gene

PathCards logo

SuperPathways for ROM1 Gene

No Data Available

Interacting Proteins for ROM1 Gene

;

Gene Ontology (GO) - Biological Process for ROM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007601 visual perception IEA,TAS --
GO:0010468 regulation of gene expression IEA --
GO:0060042 retina morphogenesis in camera-type eye IEA --
GO:0060219 camera-type eye photoreceptor cell differentiation 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

mRNA/cDNA for ROM1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

Expression for ROM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for ROM1 Gene



Protein tissue co-expression partners for ROM1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ROM1

SOURCE GeneReport for Unigene cluster for ROM1 Gene:

Hs.281564

mRNA Expression by UniProt/SwissProt for ROM1 Gene:

Q03395-ROM1_HUMAN
Tissue specificity: Retina photoreceptors (at protein level) (PubMed:1610568, PubMed:8504299). In rim region of ROS disks (PubMed:1610568).

Evidence on tissue expression from TISSUES for ROM1 Gene

  • Eye(4.8)
  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ROM1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with ROM1: view

Orthologs for ROM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ROM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ROM1 31 30
  • 99.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ROM1 31 30
  • 86.32 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ROM1 31 30
  • 85.66 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rom1 17 31 30
  • 85.09 (n)
rat
(Rattus norvegicus)
Mammalia Rom1 30
  • 84.43 (n)
oppossum
(Monodelphis domestica)
Mammalia ROM1 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRDS2 31
  • 30 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 31 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii rom1b 31
  • 38 (a)
OneToMany
rom1a 31
  • 33 (a)
OneToMany
Species where no ortholog for ROM1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ROM1: view image

Paralogs for ROM1 Gene

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

  • ROM1_HUMAN
  • E9PKF5_HUMAN
  • E9PMR7_HUMAN
  • E9PS24_HUMAN
genes like me logo Genes that share paralogs with ROM1: view

Variants for ROM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ROM1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
636087 Uncertain Significance: Macular dystrophy 62,614,296(+) A/T MISSENSE_VARIANT
729583 Likely Benign: not provided 62,613,599(+) T/C SYNONYMOUS_VARIANT
730088 Benign: not provided 62,614,369(+) C/T SYNONYMOUS_VARIANT
740351 Likely Benign: not provided 62,614,704(+) G/A SYNONYMOUS_VARIANT
741634 Likely Benign: not provided 62,614,794(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ROM1 Gene

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

Variant ID Type Subtype PubMed ID
esv3584599 CNV gain 24956385
nsv555174 CNV gain 21841781
nsv825939 CNV gain 20364138
nsv832182 CNV gain+loss 17160897

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)

Additional Variant Information for ROM1 Gene

Human Gene Mutation Database (HGMD)
ROM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ROM1

SNP Genotyping and Copy Number Assay Products

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

Disorders for ROM1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
retinitis pigmentosa 7
  • rp7
retinitis pigmentosa
  • retinitis pigmentosa 1
vitelliform macular dystrophy
  • best macular dystrophy
neisseria meningitidis infection
  • meningococcal disease
stargardt disease 1
  • stgd1
- 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}.

Additional Disease Information for ROM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 RA … McInnes RR (Human molecular genetics 1993) 2 3 4 23 54
  2. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. (PMID: 9331261) Dryja TP … Berson EL (Investigative ophthalmology & visual science 1997) 3 4 23 54
  3. Mutation analysis of the ROM1 gene in retinitis pigmentosa. (PMID: 8595413) Bascom RA … McInnes RR (Human molecular genetics 1995) 3 4 23 54
  4. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. (PMID: 8202715) Kajiwara K … Dryja TP (Science (New York, N.Y.) 1994) 3 4 23 54
  5. Polymorphisms and rare sequence variants at the ROM1 locus. (PMID: 7904211) Bascom RA … McInnes RR (Human molecular genetics 1993) 3 4 23 54

Products for ROM1 Gene

Sources for ROM1 Gene