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Q03395 (ROM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 131. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Rod outer segment membrane protein 1

Short name=ROSP1
Alternative name(s):
Tetraspanin-23
Short name=Tspan-23
Gene names
Name:ROM1
Synonyms:TSPAN23
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length351 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Subunit structure

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

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

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

Involvement in disease

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.
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 (Ref.6). Ref.6 Ref.9

Sequence similarities

Belongs to the PRPH2/ROM1 family.

Ontologies

Keywords
   Biological processCell adhesion
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Retinitis pigmentosa
   DomainTransmembrane
Transmembrane helix
   PTMDisulfide bond
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell adhesion

Inferred from electronic annotation. Source: UniProtKB-KW

visual perception

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentintegral component of plasma membrane

Traceable author statement Ref.1. Source: ProtInc

photoreceptor outer segment membrane

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 351351Rod outer segment membrane protein 1
PRO_0000168111

Regions

Topological domain1 – 1919Cytoplasmic Potential
Transmembrane20 – 4425Helical; Potential
Topological domain45 – 6420Lumenal Potential
Transmembrane65 – 8420Helical; Potential
Topological domain85 – 10218Cytoplasmic Potential
Transmembrane103 – 12523Helical; Potential
Topological domain126 – 263138Lumenal Potential
Transmembrane264 – 28623Helical; Potential
Topological domain287 – 35165Cytoplasmic Potential

Natural variations

Natural variant161R → H. Ref.9
VAR_008269
Natural variant601P → T. Ref.8
VAR_006896
Natural variant751G → D. Ref.8
VAR_008270
Natural variant1081T → M. Ref.8
Corresponds to variant rs146358003 [ dbSNP | Ensembl ].
VAR_006897
Natural variant1181G → A. Ref.1 Ref.2 Ref.3 Ref.5 Ref.7
Corresponds to variant rs1799959 [ dbSNP | Ensembl ].
VAR_008271
Natural variant2291R → H. Ref.7
Corresponds to variant rs150168119 [ dbSNP | Ensembl ].
VAR_006898
Natural variant2421R → Q. Ref.8
VAR_008272
Natural variant2651A → T. Ref.7
VAR_006899
Natural variant2711M → T. Ref.7
Corresponds to variant rs137950927 [ dbSNP | Ensembl ].
VAR_006900

Sequences

Sequence LengthMass (Da)Tools
Q03395 [UniParc].

Last modified March 6, 2007. Version 2.
Checksum: 895C33382B681E84

FASTA35137,205
        10         20         30         40         50         60 
MAPVLPLVLP LQPRIRLAQG LWLLSWLLAL AGGVILLCSG HLLVQLRHLG TFLAPSCQFP 

        70         80         90        100        110        120 
VLPQAALAAG AVALGTGLVG VGASRASLNA ALYPPWRGVL GPLLVAGTAG GGGLLVVGLG 

       130        140        150        160        170        180 
LALALPGSLD EALEEGLVTA LAHYKDTEVP GHCQAKRLVD ELQLRYHCCG RHGYKDWFGV 

       190        200        210        220        230        240 
QWVSSRYLDP GDRDVADRIQ SNVEGLYLTD GVPFSCCNPH SPRPCLQNRL SDSYAHPLFD 

       250        260        270        280        290        300 
PRQPNQNLWA QGCHEVLLEH LQDLAGTLGS MLAVTFLLQA LVLLGLRYLQ TALEGLGGVI 

       310        320        330        340        350 
DAGGETQGYL FPSGLKDMLK TAWLQGGVAC RPAPEEAPPG EAPPKEDLSE A 

« Hide

References

« Hide 'large scale' references
[1]"Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies."
Bascom R.A., Manara S., Collins L., Molday R.S., Kalnins V.I., McInnes R.R.
Neuron 8:1171-1184(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ALA-118.
Tissue: Retina.
[2]"Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation."
Bascom R.A., Schappert K.T., McInnes R.R.
Hum. Mol. Genet. 2:385-391(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-118.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-118.
Tissue: Substantia nigra.
[4]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-118.
Tissue: Brain.
[6]"Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci."
Kajiwara K., Berson E.L., Dryja T.P.
Science 264:1604-1608(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN RP7.
[7]"Polymorphisms and rare sequence variants at the ROM1 locus."
Bascom R.A., Liu L., Humphries P., Fishman G.A., Murray J.C., McInnes R.R.
Hum. Mol. Genet. 2:1975-1977(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ALA-118; HIS-229; THR-265 AND THR-271.
[8]"Mutation analysis of the ROM1 gene in retinitis pigmentosa."
Bascom R.A., Liu L., Heckenlively J.R., Stone E.M., McInnes R.R.
Hum. Mol. Genet. 4:1895-1902(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS THR-60; ASP-75; MET-108 AND GLN-242.
[9]"Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa."
Dryja T.P., Hahn L.B., Kajiwara K., Berson E.L.
Invest. Ophthalmol. Vis. Sci. 38:1972-1982(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN RP7, VARIANT HIS-16.
+Additional computationally mapped references.

Web resources

Mutations of the ROM1 gene

Retina International's Scientific Newsletter

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRI54347.
RefSeqNP_000318.1. NM_000327.3.
UniGeneHs.281564.

3D structure databases

ProteinModelPortalQ03395.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000278833.

PTM databases

PhosphoSiteQ03395.

Polymorphism databases

DMDM143745282.

Proteomic databases

PaxDbQ03395.
PRIDEQ03395.

Protocols and materials databases

DNASU6094.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000278833; ENSP00000278833; ENSG00000149489.
GeneID6094.
KEGGhsa:6094.
UCSCuc001ntv.3. human.

Organism-specific databases

CTD6094.
GeneCardsGC11P062381.
HGNCHGNC:10254. ROM1.
HPAHPA028910.
MIM180721. gene.
608133. phenotype.
neXtProtNX_Q03395.
Orphanet791. Retinitis pigmentosa.
PharmGKBPA34626.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG296737.
HOGENOMHOG000026780.
HOVERGENHBG004964.
InParanoidQ03395.
KOK17344.
OMACCNPHSP.
PhylomeDBQ03395.
TreeFamTF331684.

Gene expression databases

ArrayExpressQ03395.
BgeeQ03395.
CleanExHS_ROM1.
GenevestigatorQ03395.

Family and domain databases

InterProIPR000830. Peripherin/rom-1.
IPR018498. Peripherin/rom-1_CS.
IPR018499. Tetraspanin/Peripherin.
IPR008952. Tetraspanin_EC2.
[Graphical view]
PfamPF00335. Tetraspannin. 1 hit.
[Graphical view]
PRINTSPR00218. PERIPHERNRDS.
SUPFAMSSF48652. SSF48652. 2 hits.
PROSITEPS00930. RDS_ROM1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiROM1.
GenomeRNAi6094.
NextBio23699.
PROQ03395.
SOURCESearch...

Entry information

Entry nameROM1_HUMAN
AccessionPrimary (citable) accession number: Q03395
Secondary accession number(s): B2R978
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: March 6, 2007
Last modified: February 19, 2014
This is version 131 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM