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Q9H2I8

- CJ011_HUMAN

UniProt

Q9H2I8 - CJ011_HUMAN

Protein

Leucine-rich repeat-containing protein C10orf11

Gene

C10orf11

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 85 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    Required for melanocyte differentiation.1 Publication

    GO - Biological processi

    1. melanocyte differentiation Source: UniProtKB

    Keywords - Biological processi

    Differentiation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Leucine-rich repeat-containing protein C10orf11
    Gene namesi
    ORF Names:CDA017
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:23405. C10orf11.

    Pathology & Biotechi

    Involvement in diseasei

    Albinism, oculocutaneous, 7 (OCA7) [MIM:615179]: A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Albinism

    Organism-specific databases

    MIMi615179. phenotype.
    Orphaneti352745. Oculocutaneous albinism type 7.
    PharmGKBiPA134899373.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 198198Leucine-rich repeat-containing protein C10orf11PRO_0000089781Add
    BLAST

    Proteomic databases

    MaxQBiQ9H2I8.
    PaxDbiQ9H2I8.
    PRIDEiQ9H2I8.

    PTM databases

    PhosphoSiteiQ9H2I8.

    Expressioni

    Tissue specificityi

    In the embryo, expressed in melanoblasts. In the fetus, expressed in melanocytes. Not detected in retinal pigment epithelial cells.1 Publication

    Gene expression databases

    ArrayExpressiQ9H2I8.
    BgeeiQ9H2I8.
    CleanExiHS_C10orf11.
    GenevestigatoriQ9H2I8.

    Organism-specific databases

    HPAiHPA047446.
    HPA050419.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000361577.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H2I8.
    SMRiQ9H2I8. Positions 16-131.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati2 – 2221LRR 1Add
    BLAST
    Repeati26 – 4722LRR 2Add
    BLAST
    Repeati48 – 6922LRR 3Add
    BLAST
    Repeati75 – 9521LRR 4Add
    BLAST
    Domaini96 – 13439LRRCTAdd
    BLAST

    Sequence similaritiesi

    Contains 4 LRR (leucine-rich) repeats.Curated
    Contains 1 LRRCT domain.Curated

    Keywords - Domaini

    Leucine-rich repeat, Repeat

    Phylogenomic databases

    eggNOGiNOG121670.
    HOGENOMiHOG000293232.
    HOVERGENiHBG050965.
    OMAiYIYYGKH.
    PhylomeDBiQ9H2I8.
    TreeFamiTF328882.

    Family and domain databases

    InterProiIPR001611. Leu-rich_rpt.
    [Graphical view]
    PROSITEiPS51450. LRR. 3 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9H2I8-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEKYLSLSGN HSSNKRSLEG LSAFRSLEEL ILDNNQLGDD LVLPGLPRLH    50
    TLTLNKNRIT DLENLLDHLA EVTPALEYLS LLGNVACPNE LVSLEKDEED 100
    YKRYRCFVLY KLPNLKFLDA QKVTRQEREE ALVRGVFMKV VKPKASSEDV 150
    ASSPERHYTP LPSASRELTS HQGVLGKCRY VYYGKNSEGN RFIRDDQL 198
    Length:198
    Mass (Da):22,568
    Last modified:March 1, 2001 - v1
    Checksum:i46C5A791B179AEDF
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti153 – 1531S → F.
    Corresponds to variant rs35349706 [ dbSNP | Ensembl ].
    VAR_033686

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF267860 mRNA. Translation: AAG44729.1.
    AL731568
    , AC012047, AC013286, AC024603 Genomic DNA. Translation: CAH73047.1.
    CH471083 Genomic DNA. Translation: EAW54585.1.
    CCDSiCCDS7351.1.
    RefSeqiNP_114413.1. NM_032024.3.
    UniGeneiHs.118161.
    Hs.690504.

    Genome annotation databases

    EnsembliENST00000372499; ENSP00000361577; ENSG00000148655.
    GeneIDi83938.
    KEGGihsa:83938.
    UCSCiuc001jxi.3. human.

    Polymorphism databases

    DMDMi46576650.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF267860 mRNA. Translation: AAG44729.1 .
    AL731568
    , AC012047 , AC013286 , AC024603 Genomic DNA. Translation: CAH73047.1 .
    CH471083 Genomic DNA. Translation: EAW54585.1 .
    CCDSi CCDS7351.1.
    RefSeqi NP_114413.1. NM_032024.3.
    UniGenei Hs.118161.
    Hs.690504.

    3D structure databases

    ProteinModelPortali Q9H2I8.
    SMRi Q9H2I8. Positions 16-131.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000361577.

    PTM databases

    PhosphoSitei Q9H2I8.

    Polymorphism databases

    DMDMi 46576650.

    Proteomic databases

    MaxQBi Q9H2I8.
    PaxDbi Q9H2I8.
    PRIDEi Q9H2I8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000372499 ; ENSP00000361577 ; ENSG00000148655 .
    GeneIDi 83938.
    KEGGi hsa:83938.
    UCSCi uc001jxi.3. human.

    Organism-specific databases

    CTDi 83938.
    GeneCardsi GC10P077360.
    H-InvDB HIX0020866.
    HGNCi HGNC:23405. C10orf11.
    HPAi HPA047446.
    HPA050419.
    MIMi 614537. gene.
    615179. phenotype.
    neXtProti NX_Q9H2I8.
    Orphaneti 352745. Oculocutaneous albinism type 7.
    PharmGKBi PA134899373.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG121670.
    HOGENOMi HOG000293232.
    HOVERGENi HBG050965.
    OMAi YIYYGKH.
    PhylomeDBi Q9H2I8.
    TreeFami TF328882.

    Miscellaneous databases

    ChiTaRSi C10orf11. human.
    GenomeRNAii 83938.
    NextBioi 73065.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H2I8.
    Bgeei Q9H2I8.
    CleanExi HS_C10orf11.
    Genevestigatori Q9H2I8.

    Family and domain databases

    InterProi IPR001611. Leu-rich_rpt.
    [Graphical view ]
    PROSITEi PS51450. LRR. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel gene expressed in human pheochromocytoma."
      Xu X., Yang Y., Gao G., Xiao H., Chen Z., Han Z.
      Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Pheochromocytoma.
    2. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Platelet.
    5. "Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism."
      Groenskov K., Dooley C.M., Oestergaard E., Kelsh R.N., Hansen L., Levesque M.P., Vilhelmsen K., Moellgaard K., Stemple D.L., Rosenberg T.
      Am. J. Hum. Genet. 92:415-421(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN OCA7.

    Entry informationi

    Entry nameiCJ011_HUMAN
    AccessioniPrimary (citable) accession number: Q9H2I8
    Secondary accession number(s): B1AVW6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 26, 2004
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 85 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: 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