1. Gene
  2. ROM1 - retinal outer segment membrane protein 1 Gene

ROM1 - retinal outer segment membrane protein 1 Gene

中文名称:视网膜外节膜蛋白 1

种属: Homo sapiens

同用名: ROM; RP7; ROSP1; TSPAN23

基因 ID: 6094 | 基因类型: protein coding

关于 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.

功能概要

该基因是光感受器特异性基因家族的成员,编码在眼睛的光感受器圆盘边缘发现的一种完整的膜蛋白。这种蛋白质可以形成同二聚体或可以与另一种光感受器异二聚化,即视网膜变性缓慢 (RDS) 。它对于磁盘形态发生是必不可少的,并且还可以作为参与稳定和压实外部磁盘或维持边缘曲率的粘附分子。该基因的某些缺陷与退行性眼病视网膜色素变性有关。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_000327.4 NP_000318.2 rod outer segment membrane protein 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ROM1 蛋白结构

Tetraspannin

Tetraspannin: Tetraspanin family (21 - 287)

  • 0
  • 100
  • 200
  • 300
  • 351 a.a.
蛋白主名 其他名称

rod outer segment membrane protein 1

tetraspanin-23

重组 ROM1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74594 ROM1 Protein, Human (His) Q03395 (P126-D263) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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