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Protein

Rod outer segment membrane protein 1

Gene

ROM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.

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

EPDiQ03395.
PaxDbiQ03395.
PeptideAtlasiQ03395.
PRIDEiQ03395.

PTM databases

iPTMnetiQ03395.
PhosphoSitePlusiQ03395.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000149489.
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. 1 interactor.
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.
OMAiCCNPHSP.
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. 2 hits.
PROSITEiView protein in PROSITE
PS00930. RDS_ROM1. 1 hit.

Sequencei

Sequence statusi: Complete.

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00826916R → H1 PublicationCorresponds to variant dbSNP:rs143166696Ensembl.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:rs146358003Ensembl.1
Natural variantiVAR_008271118G → A5 PublicationsCorresponds to variant dbSNP:rs1799959Ensembl.1
Natural variantiVAR_006898229R → H1 PublicationCorresponds to variant dbSNP:rs150168119Ensembl.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:rs137950927Ensembl.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

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 22, 2017
This is version 156 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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families