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Q7RTM1

- OTOP1_HUMAN

UniProt

Q7RTM1 - OTOP1_HUMAN

Protein

Otopetrin-1

Gene

OTOP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 68 (01 Oct 2014)
      Sequence version 1 (15 Dec 2003)
      Previous versions | rss
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    Functioni

    Required for normal formation of otoconia in the inner ear. Inhibits P2Y purinoceptors. Modulates calcium homeostasis and influx of calcium in response to extracellular ATP By similarity.By similarity

    GO - Biological processi

    1. biomineral tissue development Source: UniProtKB-KW
    2. detection of gravity Source: Ensembl
    3. inner ear morphogenesis Source: Ensembl

    Keywords - Biological processi

    Biomineralization

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Otopetrin-1
    Gene namesi
    Name:OTOP1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:19656. OTOP1.

    Subcellular locationi

    Membrane; Multi-pass membrane protein. Secretedextracellular space
    Note: Detected in the gelatinous membrane overlying the inner ear macular epithelium.By similarity

    GO - Cellular componenti

    1. extracellular space Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane, Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134883507.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 612612Otopetrin-1PRO_0000313816Add
    BLAST

    Proteomic databases

    PaxDbiQ7RTM1.
    PRIDEiQ7RTM1.

    Expressioni

    Gene expression databases

    CleanExiHS_OTOP1.
    GenevestigatoriQ7RTM1.

    Organism-specific databases

    HPAiHPA035599.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000296358.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7RTM1.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei67 – 8721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei92 – 11221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei137 – 15721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei168 – 18821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei269 – 28921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei311 – 33121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei346 – 36621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei393 – 41321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei545 – 56521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei576 – 59621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the otopetrin family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG265908.
    HOGENOMiHOG000090257.
    HOVERGENiHBG108223.
    InParanoidiQ7RTM1.
    OMAiAISHGIY.
    OrthoDBiEOG72C4ZX.
    PhylomeDBiQ7RTM1.
    TreeFamiTF313428.

    Family and domain databases

    InterProiIPR004878. Otopetrin.
    [Graphical view]
    PANTHERiPTHR21522. PTHR21522. 1 hit.
    PfamiPF03189. Otopetrin. 3 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q7RTM1-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLEGLGSPAS PRAAASASVA GSSGPAACSP PSSSAPRSPE SPAPRRGGVR    50
    ASVPQKLAEM LSSQYGLIVF VAGLLLLLAW AVHAAGVSKS DLLCFLTALM 100
    LLQLLWMLWY VGRSSAHRRL FRLKDTHAGA GWLRGSITLF AVITVILGCL 150
    KIGYFIGFSE CLSATEGVFP VTHSVHTLLQ VYFLWGHAKD IIQSFKTLER 200
    FGVIHSVFTN LLLWANGVLN ESKHQLNEHK ERLITLGFGN ITTVLDDHTP 250
    QCNCTPPTLC TAISHGIYYL YPFNIEYQIL ASTMLYVLWK NIGRKVDSHQ 300
    HQKMQFKSDG VMVGAVLGLT VLAATIAVVV VYLIHIGRSK TKSESALIMF 350
    YLYAITLLML MGAAGLAGIR IYRIDEKSLD ESKNPARKLD SDLLVGTASG 400
    SWLISWGSIL AILCAEGHPR YTWYNLPYSI LAIVEKYIQN LFIFESIHRE 450
    PEKLSEDIQT LRVVTVCNGN TMPLASSCPK SGGVARDVAP QGKDMPPAAN 500
    GNVCMRESHD KEEEKQEESS WGGSPSPVRL PRFLQGNAKR KVLRNIAAFL 550
    FLCNISLWIP PAFGCRPEYD NGLEEIVFGF EPWIIVVNLA MPFSIFYRMH 600
    AAASLFEVYC KI 612
    Length:612
    Mass (Da):67,353
    Last modified:December 15, 2003 - v1
    Checksum:i7EF5C9F676D20D0F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti40 – 401E → K in AAI30431. (PubMed:15489334)Curated
    Sequence conflicti40 – 401E → K in AAI30433. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti241 – 2411I → V.
    Corresponds to variant rs28394859 [ dbSNP | Ensembl ].
    VAR_037755
    Natural varianti309 – 3091D → E.
    Corresponds to variant rs2916414 [ dbSNP | Ensembl ].
    VAR_037756
    Natural varianti434 – 4341V → M.
    Corresponds to variant rs11736799 [ dbSNP | Ensembl ].
    VAR_037757
    Natural varianti493 – 4931K → T.
    Corresponds to variant rs34666677 [ dbSNP | Ensembl ].
    VAR_037758
    Natural varianti516 – 5161Q → H.
    Corresponds to variant rs35106142 [ dbSNP | Ensembl ].
    VAR_037759

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BC130430 mRNA. Translation: AAI30431.1.
    BC130432 mRNA. Translation: AAI30433.1.
    BK000653 mRNA. Translation: DAA00901.1.
    BK000654 Genomic DNA. Translation: DAA00902.1.
    CCDSiCCDS3372.1.
    RefSeqiNP_819056.1. NM_177998.1.
    UniGeneiHs.534544.

    Genome annotation databases

    EnsembliENST00000296358; ENSP00000296358; ENSG00000163982.
    GeneIDi133060.
    KEGGihsa:133060.
    UCSCiuc003ghp.1. human.

    Polymorphism databases

    DMDMi74713136.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Protein Spotlight

    Ear of stone - Issue 89 of December 2007

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BC130430 mRNA. Translation: AAI30431.1 .
    BC130432 mRNA. Translation: AAI30433.1 .
    BK000653 mRNA. Translation: DAA00901.1 .
    BK000654 Genomic DNA. Translation: DAA00902.1 .
    CCDSi CCDS3372.1.
    RefSeqi NP_819056.1. NM_177998.1.
    UniGenei Hs.534544.

    3D structure databases

    ProteinModelPortali Q7RTM1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000296358.

    Polymorphism databases

    DMDMi 74713136.

    Proteomic databases

    PaxDbi Q7RTM1.
    PRIDEi Q7RTM1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000296358 ; ENSP00000296358 ; ENSG00000163982 .
    GeneIDi 133060.
    KEGGi hsa:133060.
    UCSCi uc003ghp.1. human.

    Organism-specific databases

    CTDi 133060.
    GeneCardsi GC04M004190.
    H-InvDB HIX0031520.
    HGNCi HGNC:19656. OTOP1.
    HPAi HPA035599.
    MIMi 607806. gene.
    neXtProti NX_Q7RTM1.
    PharmGKBi PA134883507.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG265908.
    HOGENOMi HOG000090257.
    HOVERGENi HBG108223.
    InParanoidi Q7RTM1.
    OMAi AISHGIY.
    OrthoDBi EOG72C4ZX.
    PhylomeDBi Q7RTM1.
    TreeFami TF313428.

    Miscellaneous databases

    GenomeRNAii 133060.
    NextBioi 83183.
    PROi Q7RTM1.
    SOURCEi Search...

    Gene expression databases

    CleanExi HS_OTOP1.
    Genevestigatori Q7RTM1.

    Family and domain databases

    InterProi IPR004878. Otopetrin.
    [Graphical view ]
    PANTHERi PTHR21522. PTHR21522. 1 hit.
    Pfami PF03189. Otopetrin. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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].
    2. "Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1."
      Hurle B., Ignatova E., Massironi S.M., Mashimo T., Rios X., Thalmann I., Thalmann R., Ornitz D.M.
      Hum. Mol. Genet. 12:777-789(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION.

    Entry informationi

    Entry nameiOTOP1_HUMAN
    AccessioniPrimary (citable) accession number: Q7RTM1
    Secondary accession number(s): A1L476
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: December 15, 2003
    Last modified: October 1, 2014
    This is version 68 of the entry and version 1 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

    Miscellaneous

    Otoconia are minute biomineral particles embedded in a gelatinous membrane that overlies the sensory epithelium in the inner ear. Gravity and acceleration cause the octoconia to deflect the stereocilia of sensory hair cells. Otoconia are required for normal processing of information regarding spatial orientation and acceleration.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: 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. Protein Spotlight
      Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3