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Protein

Rod outer segment membrane protein 1

Gene

ROM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.

GO - Biological processi

Keywordsi

Biological processCell adhesion

Names & Taxonomyi

Protein namesi
Recommended name:
Rod outer segment membrane protein 1
Short name:
ROSP1
Alternative name(s):
Tetraspanin-23
Short name:
Tspan-23
Gene namesi
Name:ROM1
Synonyms:TSPAN23
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000149489.8
HGNCiHGNC:10254 ROM1
MIMi180721 gene
neXtProtiNX_Q03395

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 19CytoplasmicSequence analysisAdd BLAST19
Transmembranei20 – 44HelicalSequence analysisAdd BLAST25
Topological domaini45 – 64LumenalSequence analysisAdd BLAST20
Transmembranei65 – 84HelicalSequence analysisAdd BLAST20
Topological domaini85 – 102CytoplasmicSequence analysisAdd BLAST18
Transmembranei103 – 125HelicalSequence analysisAdd BLAST23
Topological domaini126 – 263LumenalSequence analysisAdd BLAST138
Transmembranei264 – 286HelicalSequence analysisAdd BLAST23
Topological domaini287 – 351CytoplasmicSequence analysisAdd BLAST65

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 7 (RP7)2 Publications
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).1 Publication
Disease descriptionA 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.
See also OMIM:608133

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi6094
GeneReviewsiROM1
MalaCardsiROM1
MIMi608133 phenotype
OpenTargetsiENSG00000149489
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA34626

Polymorphism and mutation databases

BioMutaiROM1
DMDMi143745282

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001681111 – 351Rod outer segment membrane protein 1Add BLAST351

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiQ03395
PeptideAtlasiQ03395
PRIDEiQ03395
ProteomicsDBi58206

PTM databases

iPTMnetiQ03395
PhosphoSitePlusiQ03395

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000149489 Expressed in 144 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_ROM1
ExpressionAtlasiQ03395 baseline and differential
GenevisibleiQ03395 HS

Organism-specific databases

HPAiHPA028910

Interactioni

Subunit structurei

Homodimer; disulfide-linked. Probably forms a complex with a PRPH2 homodimer. Other proteins could associate with this complex in rods.

Protein-protein interaction databases

BioGridi112021, 3 interactors
IntActiQ03395, 2 interactors
STRINGi9606.ENSP00000278833

Structurei

3D structure databases

ProteinModelPortaliQ03395
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PRPH2/ROM1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3882 Eukaryota
ENOG4111IRY LUCA
GeneTreeiENSGT00390000016192
HOGENOMiHOG000026780
HOVERGENiHBG004964
InParanoidiQ03395
KOiK17344
OMAiLWAQGCH
OrthoDBiEOG091G0956
PhylomeDBiQ03395
TreeFamiTF331684

Family and domain databases

Gene3Di1.10.1450.10, 1 hit
InterProiView protein in InterPro
IPR000830 Peripherin/rom-1
IPR018498 Peripherin/rom-1_CS
IPR018499 Tetraspanin/Peripherin
IPR008952 Tetraspanin_EC2_sf
PfamiView protein in Pfam
PF00335 Tetraspannin, 1 hit
PRINTSiPR00218 PERIPHERNRDS
SUPFAMiSSF48652 SSF48652, 1 hit
PROSITEiView protein in PROSITE
PS00930 RDS_ROM1, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q03395-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAPVLPLVLP LQPRIRLAQG LWLLSWLLAL AGGVILLCSG HLLVQLRHLG
60 70 80 90 100
TFLAPSCQFP VLPQAALAAG AVALGTGLVG VGASRASLNA ALYPPWRGVL
110 120 130 140 150
GPLLVAGTAG GGGLLVVGLG LALALPGSLD EALEEGLVTA LAHYKDTEVP
160 170 180 190 200
GHCQAKRLVD ELQLRYHCCG RHGYKDWFGV QWVSSRYLDP GDRDVADRIQ
210 220 230 240 250
SNVEGLYLTD GVPFSCCNPH SPRPCLQNRL SDSYAHPLFD PRQPNQNLWA
260 270 280 290 300
QGCHEVLLEH LQDLAGTLGS MLAVTFLLQA LVLLGLRYLQ TALEGLGGVI
310 320 330 340 350
DAGGETQGYL FPSGLKDMLK TAWLQGGVAC RPAPEEAPPG EAPPKEDLSE

A
Length:351
Mass (Da):37,205
Last modified:March 6, 2007 - v2
Checksum:i895C33382B681E84
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PS24E9PS24_HUMAN
Rod outer segment membrane protein ...
ROM1
105Annotation score:
E9PMR7E9PMR7_HUMAN
Rod outer segment membrane protein ...
ROM1
100Annotation score:
E9PKF5E9PKF5_HUMAN
Rod outer segment membrane protein ...
ROM1
58Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00826916R → H1 PublicationCorresponds to variant dbSNP:rs143166696EnsemblClinVar.1
Natural variantiVAR_00689660P → T1 PublicationCorresponds to variant dbSNP:rs199757012Ensembl.1
Natural variantiVAR_00827075G → D1 PublicationCorresponds to variant dbSNP:rs747140028Ensembl.1
Natural variantiVAR_006897108T → M1 PublicationCorresponds to variant dbSNP:rs146358003EnsemblClinVar.1
Natural variantiVAR_008271118G → A5 PublicationsCorresponds to variant dbSNP:rs1799959Ensembl.1
Natural variantiVAR_006898229R → H1 PublicationCorresponds to variant dbSNP:rs150168119EnsemblClinVar.1
Natural variantiVAR_008272242R → Q1 PublicationCorresponds to variant dbSNP:rs767877192Ensembl.1
Natural variantiVAR_006899265A → T1 PublicationCorresponds to variant dbSNP:rs200272942Ensembl.1
Natural variantiVAR_006900271M → T1 PublicationCorresponds to variant dbSNP:rs137950927EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L07894 mRNA Translation: AAA60274.1
M96759 Genomic DNA Translation: AAA60272.1
AK313674 mRNA Translation: BAG36425.1
AP001458 Genomic DNA No translation available.
BC008100 mRNA Translation: AAH08100.1
CCDSiCCDS8024.1
PIRiI54347
RefSeqiNP_000318.1, NM_000327.3
UniGeneiHs.281564

Genome annotation databases

EnsembliENST00000278833; ENSP00000278833; ENSG00000149489
GeneIDi6094
KEGGihsa:6094
UCSCiuc001ntv.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Mutations of the ROM1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L07894 mRNA Translation: AAA60274.1
M96759 Genomic DNA Translation: AAA60272.1
AK313674 mRNA Translation: BAG36425.1
AP001458 Genomic DNA No translation available.
BC008100 mRNA Translation: AAH08100.1
CCDSiCCDS8024.1
PIRiI54347
RefSeqiNP_000318.1, NM_000327.3
UniGeneiHs.281564

3D structure databases

ProteinModelPortaliQ03395
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112021, 3 interactors
IntActiQ03395, 2 interactors
STRINGi9606.ENSP00000278833

PTM databases

iPTMnetiQ03395
PhosphoSitePlusiQ03395

Polymorphism and mutation databases

BioMutaiROM1
DMDMi143745282

Proteomic databases

PaxDbiQ03395
PeptideAtlasiQ03395
PRIDEiQ03395
ProteomicsDBi58206

Protocols and materials databases

DNASUi6094
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000278833; ENSP00000278833; ENSG00000149489
GeneIDi6094
KEGGihsa:6094
UCSCiuc001ntv.5 human

Organism-specific databases

CTDi6094
DisGeNETi6094
EuPathDBiHostDB:ENSG00000149489.8
GeneCardsiROM1
GeneReviewsiROM1
HGNCiHGNC:10254 ROM1
HPAiHPA028910
MalaCardsiROM1
MIMi180721 gene
608133 phenotype
neXtProtiNX_Q03395
OpenTargetsiENSG00000149489
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA34626
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3882 Eukaryota
ENOG4111IRY LUCA
GeneTreeiENSGT00390000016192
HOGENOMiHOG000026780
HOVERGENiHBG004964
InParanoidiQ03395
KOiK17344
OMAiLWAQGCH
OrthoDBiEOG091G0956
PhylomeDBiQ03395
TreeFamiTF331684

Miscellaneous databases

GeneWikiiROM1
GenomeRNAii6094
PROiPR:Q03395
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000149489 Expressed in 144 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_ROM1
ExpressionAtlasiQ03395 baseline and differential
GenevisibleiQ03395 HS

Family and domain databases

Gene3Di1.10.1450.10, 1 hit
InterProiView protein in InterPro
IPR000830 Peripherin/rom-1
IPR018498 Peripherin/rom-1_CS
IPR018499 Tetraspanin/Peripherin
IPR008952 Tetraspanin_EC2_sf
PfamiView protein in Pfam
PF00335 Tetraspannin, 1 hit
PRINTSiPR00218 PERIPHERNRDS
SUPFAMiSSF48652 SSF48652, 1 hit
PROSITEiView protein in PROSITE
PS00930 RDS_ROM1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiROM1_HUMAN
AccessioniPrimary (citable) accession number: Q03395
Secondary accession number(s): B2R978
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: March 6, 2007
Last modified: November 7, 2018
This is version 161 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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