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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
  • Rod Outer Segment Membrane Protein 1 3
  • 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 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

Additional gene information for ROM1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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 2.3 VISTA EPDnew Ensembl ENCODE 650.4 -11.1 -11102 6.2 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 IRF4 MTA2 ROM1 EML3 TTC9C SNHG1 CSKMT GANAB LOC105369332 EEF1G TUT1
GH11J062610 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +1.0 1041 5.3 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 ZNF207 ZNF143 FOS DEK EML3 GC11P062612 GC11P062614 ROM1 INTS5 CSKMT GANAB TUT1 WDR74 STX5
GH11J062669 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.4 +59.8 59767 4.2 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 UQCC3 LBHD1 GC11M062588 EML3 LOC105369332 MTA2 GANAB WDR74 STX5 CSKMT
GH11J062712 Promoter/Enhancer 1.4 EPDnew ENCODE dbSUPER 11.1 +102.2 102204 3.5 FOXA2 MAX RAD21 YY1 FOSL1 ZNF316 HNF4G CBFA2T2 ZNF600 NFE2 PIR38618 HNRNPUL2 TTC9C UBXN1 LBHD1 LRRN4CL POLR2G GANAB B3GAT3 UQCC3
GH11J062448 Enhancer 0.8 dbSUPER 4.3 -161.6 -161599 2.8 FOXA2 PKNOX1 ATF1 RAD21 RFX5 YY1 TCF12 RCOR1 ATF7 CREM TTC9C ROM1 LOC102723765 GC11P062515 AHNAK
- 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

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

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. Probably forms a complex with a PRPH2 homodimer. Other proteins could associate with this complex in rods.

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

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

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.
GENATLAS Biochemistry:
rod photoreceptor outer segment,membrane protein 1
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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
cytoskeleton 2
nucleus 2
cytosol 2

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 TAS 1610568
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

No Data Available

Gene Ontology (GO) - Biological Process for ROM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007166 cell surface receptor signaling pathway IBA --
GO:0007601 visual perception TAS,IEA --
GO:0010468 regulation of gene expression IEA --
GO:0060042 retina morphogenesis 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

mRNA/cDNA for ROM1 Gene

Unigene Clusters for ROM1 Gene

Retinal outer segment membrane protein 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
ROM1

Expression for ROM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of ROM1 Gene:

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 (photoreceptor). In rim region of ROS (rod outer segment) disks.

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 34 33
  • 99.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ROM1 34 33
  • 86.32 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ROM1 34 33
  • 85.66 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rom1 16 34 33
  • 85.09 (n)
rat
(Rattus norvegicus)
Mammalia Rom1 33
  • 84.43 (n)
oppossum
(Monodelphis domestica)
Mammalia ROM1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRDS2 34
  • 30 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 31 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii rom1b 34
  • 38 (a)
OneToMany
rom1a 34
  • 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

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 from dbSNP and Humsavar for ROM1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1054496079 uncertain-significance, Retinitis Pigmentosa, Dominant 62,615,018(+) A/C 3_prime_UTR_variant
rs137950927 benign, likely-benign, not specified, Retinitis Pigmentosa, Dominant 62,614,479(+) T/A/C coding_sequence_variant, missense_variant
rs139971812 uncertain-significance, Retinitis Pigmentosa, Dominant 62,614,769(+) C/T coding_sequence_variant, missense_variant
rs141629524 uncertain-significance, Retinitis Pigmentosa, Dominant, not specified 62,614,260(+) G/A/C coding_sequence_variant, missense_variant
rs147684283 uncertain-significance, Retinitis Pigmentosa, Dominant 62,615,094(+) C/T 3_prime_UTR_variant

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

(13) MalaCards diseases for ROM1 Gene - From: HGMD, 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
best vitelliform macular dystrophy
  • vmd2
neisseria meningitidis infection
  • meningococcal disease
- 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 22 58
  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 22 58
  3. Mutation analysis of the ROM1 gene in retinitis pigmentosa. (PMID: 8595413) Bascom RA … McInnes RR (Human molecular genetics 1995) 3 4 22 58
  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 22 58
  5. Polymorphisms and rare sequence variants at the ROM1 locus. (PMID: 7904211) Bascom RA … McInnes RR (Human molecular genetics 1993) 3 4 22 58

Products for ROM1 Gene

Sources for ROM1 Gene

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