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Q86SQ7

- SDCG8_HUMAN

UniProt

Q86SQ7 - SDCG8_HUMAN

Protein

Serologically defined colon cancer antigen 8

Gene

SDCCAG8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 1 (01 Jun 2003)
      Previous versions | rss
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    Functioni

    Plays a role in the establishment of cell polarity and epithelial lumen formation By similarity. May play a role in ciliogenesis.By similarity

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. establishment of cell polarity Source: UniProtKB
    2. G2/M transition of mitotic cell cycle Source: Reactome
    3. mitotic cell cycle Source: Reactome
    4. tube formation Source: UniProtKB

    Enzyme and pathway databases

    ReactomeiREACT_15296. Recruitment of mitotic centrosome proteins and complexes.
    REACT_15364. Loss of Nlp from mitotic centrosomes.
    REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
    REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Serologically defined colon cancer antigen 8
    Alternative name(s):
    Antigen NY-CO-8
    Centrosomal colon cancer autoantigen protein
    Short name:
    hCCCAP
    Gene namesi
    Name:SDCCAG8
    Synonyms:CCCAP, NPHP10
    ORF Names:HSPC085
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:10671. SDCCAG8.

    Subcellular locationi

    Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole. Cell junction
    Note: Located at the distal ends of both centrioles and colocalizes to centrosomes throughout the cell cycle.

    GO - Cellular componenti

    1. cell-cell junction Source: UniProtKB
    2. centriole Source: UniProtKB
    3. centrosome Source: UniProtKB
    4. cytosol Source: Reactome

    Keywords - Cellular componenti

    Cell junction, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Senior-Loken syndrome 7 (SLSN7) [MIM:613615]: A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Ciliopathy, Leber congenital amaurosis, Nephronophthisis, Senior-Loken syndrome

    Organism-specific databases

    MIMi613615. phenotype.
    Orphaneti110. Bardet-Biedl syndrome.
    3156. Senior-Loken syndrome.
    PharmGKBiPA35601.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 713713Serologically defined colon cancer antigen 8PRO_0000076310Add
    BLAST

    Proteomic databases

    MaxQBiQ86SQ7.
    PaxDbiQ86SQ7.
    PRIDEiQ86SQ7.

    PTM databases

    PhosphoSiteiQ86SQ7.

    Expressioni

    Tissue specificityi

    Expressed in thymus, prostate, testis, ovary, small intestine, colon, mucosa, colon and renal cancer tumors.1 Publication

    Gene expression databases

    ArrayExpressiQ86SQ7.
    BgeeiQ86SQ7.
    CleanExiHS_SDCCAG8.
    GenevestigatoriQ86SQ7.

    Organism-specific databases

    HPAiHPA044477.

    Interactioni

    Subunit structurei

    Homodimer By similarity. Interacts with OFD1; the interaction is direct. Interacts with FAM161A.By similarity2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    gagP045912EBI-1047850,EBI-6179719From a different organism.

    Protein-protein interaction databases

    BioGridi116020. 3 interactions.
    IntActiQ86SQ7. 9 interactions.
    MINTiMINT-6777914.
    STRINGi9606.ENSP00000355499.

    Structurei

    3D structure databases

    ProteinModelPortaliQ86SQ7.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni216 – 713498Sufficient for homodimerizationBy similarityAdd
    BLAST
    Regioni533 – 713181Mediates interaction with OFD1Add
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili129 – 17547Sequence AnalysisAdd
    BLAST
    Coiled coili223 – 27351Sequence AnalysisAdd
    BLAST
    Coiled coili348 – 707360Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi534 – 692159Gln-richAdd
    BLAST

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG69678.
    HOGENOMiHOG000133059.
    HOVERGENiHBG056806.
    InParanoidiQ86SQ7.
    KOiK16488.
    OMAiQHGRVHE.
    OrthoDBiEOG7W6WK8.
    PhylomeDBiQ86SQ7.
    TreeFamiTF325472.

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q86SQ7-1) [UniParc]FASTAAdd to Basket

    Also known as: a

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAKSPENSTL EEILGQYQRS LREHASRSIH QLTCALKEGD VTIGEDAPNL    50
    SFSTSVGNED ARTAWPELQQ SHAVNQLKDL LRQQADKESE VSPSRRRKMS 100
    PLRSLEHEET NMPTMHDLVH TINDQSQYIH HLEAEVKFCK EELSGMKNKI 150
    QVVVLENEGL QQQLKSQRQE ETLREQTLLD ASGNMHNSWI TTGEDSGVGE 200
    TSKRPFSHDN ADFGKAASAG EQLELEKLKL TYEEKCEIEE SQLKFLRNDL 250
    AEYQRTCEDL KEQLKHKEFL LAANTCNRVG GLCLKCAQHE AVLSQTHTNV 300
    HMQTIERLVK ERDDLMSALV SVRSSLADTQ QREASAYEQV KQVLQISEEA 350
    NFEKTKALIQ CDQLRKELER QAERLEKELA SQQEKRAIEK DMMKKEITKE 400
    REYMGSKMLI LSQNIAQLEA QVEKVTKEKI SAINQLEEIQ SQLASREMDV 450
    TKVCGEMRYQ LNKTNMEKDE AEKEHREFRA KTNRDLEIKD QEIEKLRIEL 500
    DESKQHLEQE QQKAALAREE CLRLTELLGE SEHQLHLTRQ EKDSIQQSFS 550
    KEAKAQALQA QQREQELTQK IQQMEAQHDK TENEQYLLLT SQNTFLTKLK 600
    EECCTLAKKL EQISQKTRSE IAQLSQEKRY TYDKLGKLQR RNEELEEQCV 650
    QHGRVHETMK QRLRQLDKHS QATAQQLVQL LSKQNQLLLE RQSLSEEVDR 700
    LRTQLPSMPQ SDC 713
    Length:713
    Mass (Da):82,682
    Last modified:June 1, 2003 - v1
    Checksum:i04D5304DC3E17640
    GO
    Isoform 2 (identifier: Q86SQ7-2) [UniParc]FASTAAdd to Basket

    Also known as: e

    The sequence of this isoform differs from the canonical sequence as follows:
         357-360: ALIQ → HPSQ
         361-713: Missing.

    Show »
    Length:360
    Mass (Da):40,935
    Checksum:i0CF81B6E49398804
    GO
    Isoform 3 (identifier: Q86SQ7-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         221-225: EQLEL → LLDAS
         538-616: Missing.

    Show »
    Length:634
    Mass (Da):73,315
    Checksum:i81926C3C0F50A8A4
    GO
    Isoform 4 (identifier: Q86SQ7-4) [UniParc]FASTAAdd to Basket

    Also known as: b

    The sequence of this isoform differs from the canonical sequence as follows:
         183-226: Missing.

    Show »
    Length:669
    Mass (Da):78,021
    Checksum:i2F1594640F02F7BB
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti378 – 3781E → D.
    Corresponds to variant rs2275155 [ dbSNP | Ensembl ].
    VAR_051333

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei183 – 22644Missing in isoform 4. 1 PublicationVSP_016949Add
    BLAST
    Alternative sequencei221 – 2255EQLEL → LLDAS in isoform 3. 1 PublicationVSP_016950
    Alternative sequencei357 – 3604ALIQ → HPSQ in isoform 2. 1 PublicationVSP_016951
    Alternative sequencei361 – 713353Missing in isoform 2. 1 PublicationVSP_016952Add
    BLAST
    Alternative sequencei538 – 61679Missing in isoform 3. 1 PublicationVSP_016953Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF250731 mRNA. Translation: AAO27830.1.
    BC032454 mRNA. Translation: AAH32454.1.
    BC045832 mRNA. Translation: AAH45832.1.
    AF161348 mRNA. Translation: AAF28908.1.
    AF039690 mRNA. Translation: AAC18039.1.
    CCDSiCCDS31075.1. [Q86SQ7-1]
    RefSeqiNP_006633.1. NM_006642.3. [Q86SQ7-1]
    XP_005273080.1. XM_005273023.2. [Q86SQ7-2]
    XP_006725036.1. XM_006724973.1. [Q86SQ7-2]
    UniGeneiHs.591530.

    Genome annotation databases

    EnsembliENST00000366541; ENSP00000355499; ENSG00000054282. [Q86SQ7-1]
    ENST00000435549; ENSP00000410200; ENSG00000054282.
    GeneIDi10806.
    KEGGihsa:10806.
    UCSCiuc001hzw.3. human. [Q86SQ7-1]
    uc001hzx.3. human. [Q86SQ7-3]

    Polymorphism databases

    DMDMi74713839.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF250731 mRNA. Translation: AAO27830.1 .
    BC032454 mRNA. Translation: AAH32454.1 .
    BC045832 mRNA. Translation: AAH45832.1 .
    AF161348 mRNA. Translation: AAF28908.1 .
    AF039690 mRNA. Translation: AAC18039.1 .
    CCDSi CCDS31075.1. [Q86SQ7-1 ]
    RefSeqi NP_006633.1. NM_006642.3. [Q86SQ7-1 ]
    XP_005273080.1. XM_005273023.2. [Q86SQ7-2 ]
    XP_006725036.1. XM_006724973.1. [Q86SQ7-2 ]
    UniGenei Hs.591530.

    3D structure databases

    ProteinModelPortali Q86SQ7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116020. 3 interactions.
    IntActi Q86SQ7. 9 interactions.
    MINTi MINT-6777914.
    STRINGi 9606.ENSP00000355499.

    PTM databases

    PhosphoSitei Q86SQ7.

    Polymorphism databases

    DMDMi 74713839.

    Proteomic databases

    MaxQBi Q86SQ7.
    PaxDbi Q86SQ7.
    PRIDEi Q86SQ7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000366541 ; ENSP00000355499 ; ENSG00000054282 . [Q86SQ7-1 ]
    ENST00000435549 ; ENSP00000410200 ; ENSG00000054282 .
    GeneIDi 10806.
    KEGGi hsa:10806.
    UCSCi uc001hzw.3. human. [Q86SQ7-1 ]
    uc001hzx.3. human. [Q86SQ7-3 ]

    Organism-specific databases

    CTDi 10806.
    GeneCardsi GC01P243419.
    GeneReviewsi SDCCAG8.
    HGNCi HGNC:10671. SDCCAG8.
    HPAi HPA044477.
    MIMi 613524. gene.
    613615. phenotype.
    neXtProti NX_Q86SQ7.
    Orphaneti 110. Bardet-Biedl syndrome.
    3156. Senior-Loken syndrome.
    PharmGKBi PA35601.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG69678.
    HOGENOMi HOG000133059.
    HOVERGENi HBG056806.
    InParanoidi Q86SQ7.
    KOi K16488.
    OMAi QHGRVHE.
    OrthoDBi EOG7W6WK8.
    PhylomeDBi Q86SQ7.
    TreeFami TF325472.

    Enzyme and pathway databases

    Reactomei REACT_15296. Recruitment of mitotic centrosome proteins and complexes.
    REACT_15364. Loss of Nlp from mitotic centrosomes.
    REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
    REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

    Miscellaneous databases

    ChiTaRSi SDCCAG8. human.
    GeneWikii SDCCAG8.
    GenomeRNAii 10806.
    NextBioi 41047.
    PROi Q86SQ7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q86SQ7.
    Bgeei Q86SQ7.
    CleanExi HS_SDCCAG8.
    Genevestigatori Q86SQ7.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "Identification and characterization of the novel centrosome-associated protein CCCAP."
      Kenedy A.A., Cohen K.J., Loveys D.A., Kato G.J., Dang C.V.
      Gene 303:35-46(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 4), ALTERNATIVE SPLICING, SUBCELLULAR LOCATION.
      Tissue: Placenta.
    2. "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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 465-713 (ISOFORM 1).
      Tissue: Brain, Hippocampus, Lung and Testis.
    3. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
      Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
      , Gu J., Chen S.-J., Chen Z.
      Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-393 (ISOFORM 1).
      Tissue: Umbilical cord blood.
    4. "Characterization of human colon cancer antigens recognized by autologous antibodies."
      Scanlan M.J., Chen Y.-T., Williamson B., Gure A.O., Stockert E., Gordan J.D., Tuereci O., Sahin U., Pfreundschuh M., Old L.J.
      Int. J. Cancer 76:652-658(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 221-713 (ISOFORM 3), TISSUE SPECIFICITY.
      Tissue: Colon carcinoma.
    5. "Proteomic characterization of the human centrosome by protein correlation profiling."
      Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M.
      Nature 426:570-574(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Lymphoblast.
    6. "Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy."
      Otto E.A., Hurd T.W., Airik R., Chaki M., Zhou W., Stoetzel C., Patil S.B., Levy S., Ghosh A.K., Murga-Zamalloa C.A., van Reeuwijk J., Letteboer S.J., Sang L., Giles R.H., Liu Q., Coene K.L., Estrada-Cuzcano A., Collin R.W.
      , McLaughlin H.M., Held S., Kasanuki J.M., Ramaswami G., Conte J., Lopez I., Washburn J., Macdonald J., Hu J., Yamashita Y., Maher E.R., Guay-Woodford L.M., Neumann H.P., Obermuller N., Koenekoop R.K., Bergmann C., Bei X., Lewis R.A., Katsanis N., Lopes V., Williams D.S., Lyons R.H., Dang C.V., Brito D.A., Dias M.B., Zhang X., Cavalcoli J.D., Nurnberg G., Nurnberg P., Pierce E.A., Jackson P.K., Antignac C., Saunier S., Roepman R., Dollfus H., Khanna H., Hildebrandt F.
      Nat. Genet. 42:840-850(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, INTERACTION WITH OFD1, INVOLVEMENT IN SLSN7, ALTERNATIVE SPLICING.
    7. "FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies."
      Di Gioia S.A., Letteboer S.J., Kostic C., Bandah-Rozenfeld D., Hetterschijt L., Sharon D., Arsenijevic Y., Roepman R., Rivolta C.
      Hum. Mol. Genet. 21:5174-5184(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH FAM161A.

    Entry informationi

    Entry nameiSDCG8_HUMAN
    AccessioniPrimary (citable) accession number: Q86SQ7
    Secondary accession number(s): O60527
    , Q3ZCR6, Q8N5F2, Q9P0F1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 10, 2006
    Last sequence update: June 1, 2003
    Last modified: October 1, 2014
    This is version 95 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 1
      Human chromosome 1: 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

    External Data

    Dasty 3