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Q03395

- ROM1_HUMAN

UniProt

Q03395 - ROM1_HUMAN

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Protein
Rod outer segment membrane protein 1
Gene
ROM1, TSPAN23
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. cell adhesion Source: UniProtKB-KW
  2. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Cell 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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:10254. ROM1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1919Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei20 – 4425Helical; Reviewed prediction
Add
BLAST
Topological domaini45 – 6420Lumenal Reviewed prediction
Add
BLAST
Transmembranei65 – 8420Helical; Reviewed prediction
Add
BLAST
Topological domaini85 – 10218Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei103 – 12523Helical; Reviewed prediction
Add
BLAST
Topological domaini126 – 263138Lumenal Reviewed prediction
Add
BLAST
Transmembranei264 – 28623Helical; Reviewed prediction
Add
BLAST
Topological domaini287 – 35165Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of plasma membrane Source: ProtInc
  2. photoreceptor outer segment membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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 (1 Publication).2 Publications

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

MIMi608133. phenotype.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA34626.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 351351Rod outer segment membrane protein 1
PRO_0000168111Add
BLAST

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiQ03395.
PRIDEiQ03395.

PTM databases

PhosphoSiteiQ03395.

Expressioni

Tissue specificityi

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

Gene expression databases

ArrayExpressiQ03395.
BgeeiQ03395.
CleanExiHS_ROM1.
GenevestigatoriQ03395.

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

STRINGi9606.ENSP00000278833.

Structurei

3D structure databases

ProteinModelPortaliQ03395.

Family & Domainsi

Sequence similaritiesi

Belongs to the PRPH2/ROM1 family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG296737.
HOGENOMiHOG000026780.
HOVERGENiHBG004964.
InParanoidiQ03395.
KOiK17344.
OMAiCCNPHSP.
PhylomeDBiQ03395.
TreeFamiTF331684.

Family and domain databases

InterProiIPR000830. Peripherin/rom-1.
IPR018498. Peripherin/rom-1_CS.
IPR018499. Tetraspanin/Peripherin.
IPR008952. Tetraspanin_EC2.
[Graphical view]
PfamiPF00335. Tetraspannin. 1 hit.
[Graphical view]
PRINTSiPR00218. PERIPHERNRDS.
SUPFAMiSSF48652. SSF48652. 2 hits.
PROSITEiPS00930. RDS_ROM1. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q03395-1 [UniParc]FASTAAdd to Basket

« Hide

MAPVLPLVLP LQPRIRLAQG LWLLSWLLAL AGGVILLCSG HLLVQLRHLG    50
TFLAPSCQFP VLPQAALAAG AVALGTGLVG VGASRASLNA ALYPPWRGVL 100
GPLLVAGTAG GGGLLVVGLG LALALPGSLD EALEEGLVTA LAHYKDTEVP 150
GHCQAKRLVD ELQLRYHCCG RHGYKDWFGV QWVSSRYLDP GDRDVADRIQ 200
SNVEGLYLTD GVPFSCCNPH SPRPCLQNRL SDSYAHPLFD PRQPNQNLWA 250
QGCHEVLLEH LQDLAGTLGS MLAVTFLLQA LVLLGLRYLQ TALEGLGGVI 300
DAGGETQGYL FPSGLKDMLK TAWLQGGVAC RPAPEEAPPG EAPPKEDLSE 350
A 351
Length:351
Mass (Da):37,205
Last modified:March 6, 2007 - v2
Checksum:i895C33382B681E84
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161R → H.1 Publication
VAR_008269
Natural varianti60 – 601P → T.1 Publication
VAR_006896
Natural varianti75 – 751G → D.1 Publication
VAR_008270
Natural varianti108 – 1081T → M.1 Publication
Corresponds to variant rs146358003 [ dbSNP | Ensembl ].
VAR_006897
Natural varianti118 – 1181G → A.5 Publications
Corresponds to variant rs1799959 [ dbSNP | Ensembl ].
VAR_008271
Natural varianti229 – 2291R → H.1 Publication
Corresponds to variant rs150168119 [ dbSNP | Ensembl ].
VAR_006898
Natural varianti242 – 2421R → Q.1 Publication
VAR_008272
Natural varianti265 – 2651A → T.1 Publication
VAR_006899
Natural varianti271 – 2711M → T.1 Publication
Corresponds to variant rs137950927 [ dbSNP | Ensembl ].
VAR_006900

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human.

Polymorphism databases

DMDMi143745282.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the ROM1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS8024.1.
PIRi I54347.
RefSeqi NP_000318.1. NM_000327.3.
UniGenei Hs.281564.

3D structure databases

ProteinModelPortali Q03395.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000278833.

PTM databases

PhosphoSitei Q03395.

Polymorphism databases

DMDMi 143745282.

Proteomic databases

PaxDbi Q03395.
PRIDEi Q03395.

Protocols and materials databases

DNASUi 6094.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000278833 ; ENSP00000278833 ; ENSG00000149489 .
GeneIDi 6094.
KEGGi hsa:6094.
UCSCi uc001ntv.3. human.

Organism-specific databases

CTDi 6094.
GeneCardsi GC11P062381.
GeneReviewsi ROM1.
HGNCi HGNC:10254. ROM1.
HPAi HPA028910.
MIMi 180721. gene.
608133. phenotype.
neXtProti NX_Q03395.
Orphaneti 791. Retinitis pigmentosa.
PharmGKBi PA34626.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG296737.
HOGENOMi HOG000026780.
HOVERGENi HBG004964.
InParanoidi Q03395.
KOi K17344.
OMAi CCNPHSP.
PhylomeDBi Q03395.
TreeFami TF331684.

Miscellaneous databases

GeneWikii ROM1.
GenomeRNAii 6094.
NextBioi 23699.
PROi Q03395.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q03395.
Bgeei Q03395.
CleanExi HS_ROM1.
Genevestigatori Q03395.

Family and domain databases

InterProi IPR000830. Peripherin/rom-1.
IPR018498. Peripherin/rom-1_CS.
IPR018499. Tetraspanin/Peripherin.
IPR008952. Tetraspanin_EC2.
[Graphical view ]
Pfami PF00335. Tetraspannin. 1 hit.
[Graphical view ]
PRINTSi PR00218. PERIPHERNRDS.
SUPFAMi SSF48652. SSF48652. 2 hits.
PROSITEi PS00930. RDS_ROM1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. 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.

Entry informationi

Entry nameiROM1_HUMAN
AccessioniPrimary (citable) accession number: Q03395
Secondary accession number(s): B2R978
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: March 6, 2007
Last modified: July 9, 2014
This is version 133 of the entry and version 2 of the sequence. [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

External Data

Dasty 3

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