ROM1 - retinal outer segment membrane protein 1 Gene

Also Known as ROM; RP7; ROSP1; TSPAN23

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6094

About ROM1

Cytogenetic location: 11q12.3 Genomic coordinates (GRCh38): 11:62,613,257-62,615,116 (from NCBI)

This gene has 5 transcripts (splice variants), 237 orthologues, 32 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 5.2), ovary (RPKM 2.2) and 23 other tissues.

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]

ROM1 Products (1)

mRNA Protein Name
NM_000327.4 NP_000318.2 rod outer segment membrane protein 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ROM1 Protein Structure

Tetraspannin

Tetraspannin: Tetraspanin family (21 - 287)

  • 0
  • 100
  • 200
  • 300
  • 351 a.a.
Protein Preferred Names Protein Names

rod outer segment membrane protein 1

  • tetraspanin-23

ROM1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ROM1 Q03395 MYG1 Homo sapiens Q9HB07 32296183
Intra
ROM1 Q03395 ORMDL3 Homo sapiens Q8N138 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ROM1 Proteins

Cat. No. Product Name Accession Purity
HY-P74594 ROM1 Protein, Human (His) Q03395 (P126-D263) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Retinitis Pigmentosa 7
  • Leber Congenital Amaurosis 18

  • RP7

  • Retinitis Pigmentosa 7, Digenic Form

  • Retinitis Pigmentosa 7 And Digenic Form

  • Retinitis Pigmentosa 7, Digenic

  • LCA18

  • Retinitis Pigmentosa 7 Digenic

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Meningococcal Infection
  • Meningococcal Disease

  • Meningococcal Infections

  • Neisseria Meningitidis Infection

  • Meningococcal Diseases

  • Meningococcus

  • Infection Due To Neisseria Meningitidis

  • Meningococcal Disease Nos

  • Meningococcal Infection Nos

Vitelliform Macular Dystrophy
  • Best Disease

  • Juvenile-Onset Vitelliform Macular Dystrophy

  • Macular Dystrophy, Vitelliform

  • Best Macular Dystrophy

  • Vitelliform Dystrophy

Retinitis
Retinal Degeneration
  • Degeneration Of Retina

Hereditary Choroidal Atrophy
  • Hereditary Choroidal Dystrophy

Partial Central Choroid Dystrophy
  • Choroidal Dystrophy, Central Areolar

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Exudative Vitreoretinopathy 5
  • EVR5

  • Vitreoretinopathy, Exudative 5

  • Vitreoretinopathy, Exudative, Type 5

Retinitis Pigmentosa 1
  • RP1

  • Retinitis Pigmentosa-1

  • Retinitis Pigmentosa, Type 1

Retinal Cone Dystrophy 4
  • RCD4

  • Doid:0081023

  • Dystrophy, Retinal Cone, Type 4

Pseudoretinitis Pigmentosa
  • Secondary Pigmentary Retinal Degeneration

  • Secondary Pigmentary Degeneration Of Retina

Choroidal Dystrophy, Central Areolar, 1
  • Choroidal Sclerosis

  • Choroidal Dystrophy

  • Choroidal Dystrophy, Central Areolar

  • Cacd

  • Central Areolar Choroidal Dystrophy

  • CACD1

  • Choroidal Dystrophy, Central Areolar 1

  • Choroidal Dystrophy Central Areolar

  • Central Areolar Choroidal Sclerosis

  • Choroidal Degenerations

  • Areolar Atrophy Of The Macula

  • Partial Central Choroid Dystrophy

  • Degenerative Choroidopathy

  • Chorioretinal Degeneration

  • Hereditary Chorioretinal Degeneration

  • Hereditary Degeneration Of Choroid

  • Hereditary Choroidal Dystrophies

  • Generalised Choroidal Dystrophy

  • Hereditary Choroidopathy

Stargardt Disease 1
  • Fundus Flavimaculatus

  • STGD1

  • Retinal Dystrophy, Early-Onset Severe

  • Macular Dystrophy With Flecks, Type 1

  • Stargardt'S Disease

  • Stgd

  • Macular Degeneration, Juvenile

  • Macular Degeneration Juvenile

  • FFM

  • Juvenile Macular Degeneration

  • Macular Dystrophy With Flecks Type 1

  • Early Onset And Severe Retinal Dystrophy

Retinitis Pigmentosa 9
  • RP9

  • Retinitis Pigmentosa-9

  • Retinitis Pigmentosa, Type 9

Eye Disease
  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy

Enhanced S-Cone Syndrome
  • Goldmann-Favre Syndrome

  • ESCS

  • Favre Hyaloideoretinal Degeneration

  • Retinoschisis With Early Hemeralopia

  • Retinoschisis With Early Nyctalopia

  • Enhanced S Cone Syndrome

  • S-Cone Syndrome, Enhanced

Orofaciodigital Syndrome X
  • OFD10

  • Orofaciodigital Syndrome With Fibular Aplasia

  • Oral-Facial-Digital Syndrome With Fibular Aplasia

  • Ofds X

  • Oral-Facial-Digital Syndrome, Type X

  • Orofaciodigital Syndrome 10

  • Ofd Syndrome 10

  • Ofds 10

  • Oral Facial Digital Syndrome 10

  • Oral Facial Digital Syndrome Type 10

  • Oral-Facial-Digital Syndrome 10

  • Orofaciodigital Syndrome Type Figuera

  • Orofaciodigital Syndrome Type 10

  • Figuera Syndrome

  • Oral-Facial-Digital Syndrome Type 10

Fundus Albipunctatus
  • Retinitis Punctata Albescens

  • Pigmentary Retinal Dystrophy

  • RPA

  • Albipunctate Retinal Dystrophy

  • Lauber'S Disease

  • FALBI

  • Fa

Eye Degenerative Disease
Macular Degeneration, Age-Related, 1
  • Macular Degeneration

  • Age-Related Macular Degeneration

  • Macular Degeneration, Age-Related

  • Age Related Macular Degeneration

  • Age Related Macular Degeneration 1

  • ARMD1

  • Senile Macular Degeneration

  • Maculopathy, Age-Related, 1

  • Macular Degeneration, Age-Related, Reduced Risk Of

  • Age Related Maculopathy 1

  • Age Related Maculopathies

  • Age Related Maculopathy

  • Senile Macular Retinal Degeneration

  • Macular Degeneration Of Retina

  • Age-Related Maculopathy

  • Amd

  • Armd

  • Age-Related Maculopathy, Susceptibility To

  • Maculopathy Age-Related

  • Macular Degeneration, Age-Related, 1, Susceptibility To

  • Maculopathy, Age-Related

  • Macular Degeneration, Age-Related, Type 1

  • Macular Degeneration, Age-Related, 2

Nanophthalmos
  • Nanophthalmia

Stargardt Disease
  • Stargardt Disease 1

  • Stargardt Macular Dystrophy

  • Stargardt Disease-1

  • Juvenile Onset Macular Degeneration

  • Stargardt Macular Degeneration

  • Juvenile Macular Degeneration

  • Macular Dystrophy With Flecks, Type 1

  • Stgd

  • Fundus Flavimaculatus

  • Stargardt 1

  • Stargardts Disease

Cone-Rod Dystrophy 16
  • Retinitis Pigmentosa 64

  • Retinal Dystrophy With Early Macular Involvement

  • CORD16

  • RP64

Cone-Rod Dystrophy 2
  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy

Congenital Stationary Night Blindness
  • Night Blindness, Congenital Stationary

  • Congenital Essential Nyctalopia

  • Oguchi Disease

  • Blindness, Night, Stationary, Congenital

Cone Dystrophy
  • Retinal Cone Dystrophy

  • Dystrophy, Cone

  • Cone Dystrophy 3

Bardet-Biedl Syndrome 1
  • BBS1

  • Bardet-Biedl Syndrome 1, Modifier Of

  • Bardet-Biedl Syndrome

  • BBS

  • Bardet-Biedl Syndrome, Type 1

  • Laurence-Moon-Bardet-Biedl Syndrome

Usher Syndrome
  • Deafness-Retinitis Pigmentosa Syndrome

  • Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

  • Graefe-Usher Syndrome

  • Hallgren Syndrome

  • Usher'S Syndrome

  • Retinitis Pigmentosa-Deafness Syndrome

  • Retinitis Pigmentosa-Hearing Loss Syndrome

  • Ush

  • Usher Syndromes

Late-Onset Retinal Degeneration
  • LORD

  • Retinal Degeneration, Late-Onset, Autosomal Dominant

  • Autosomal Dominant Late-Onset Retinal Degeneration

  • Pigmentary Retinopathy

  • Retinal Degeneration, Late-Onset

  • Retinitis Pigmentosa

Leber Plus Disease
  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber

Bardet-Biedl Syndrome
  • Bbs

  • Biedl-Bardet Syndrome

Joubert Syndrome 1
  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus ROM1 VGNC VGNC:64717
Bos taurus ROM1 VGNC VGNC:34084
Canis familiaris ROM1 VGNC VGNC:45690
Mus musculus ROM1 MGD MGI:97998
Macaca mulatta ROM1 VGNC VGNC:107635
Rattus norvegicus ROM1 RGD RGD:1306070
Others ROM1 NCBI