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Q03395

- ROM1_HUMAN

UniProt

Q03395 - ROM1_HUMAN

Protein

Rod outer segment membrane protein 1

Gene

ROM1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 2 (06 Mar 2007)
      Previous versions | rss
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    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

    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

    GO - Cellular componenti

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

    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.2 Publications
    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 (PubMed:8202715).1 Publication

    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 1PRO_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

    IntActiQ03395. 1 interaction.
    STRINGi9606.ENSP00000278833.

    Structurei

    3D structure databases

    ProteinModelPortaliQ03395.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1919CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini45 – 6420LumenalSequence AnalysisAdd
    BLAST
    Topological domaini85 – 10218CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini126 – 263138LumenalSequence AnalysisAdd
    BLAST
    Topological domaini287 – 35165CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei20 – 4425HelicalSequence AnalysisAdd
    BLAST
    Transmembranei65 – 8420HelicalSequence AnalysisAdd
    BLAST
    Transmembranei103 – 12523HelicalSequence AnalysisAdd
    BLAST
    Transmembranei264 – 28623HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the PRPH2/ROM1 family.Curated

    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

    IntActi Q03395. 1 interaction.
    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

    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: October 1, 2014
    This is version 134 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