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Q5H9S7

- DCA17_HUMAN

UniProt

Q5H9S7 - DCA17_HUMAN

Protein

DDB1- and CUL4-associated factor 17

Gene

DCAF17

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 72 (01 Oct 2014)
      Sequence version 1 (15 Feb 2005)
      Previous versions | rss
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    Functioni

    May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.1 Publication

    Pathwayi

    GO - Biological processi

    1. protein ubiquitination Source: UniProtKB

    Keywords - Biological processi

    Ubl conjugation pathway

    Enzyme and pathway databases

    UniPathwayiUPA00143.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    DDB1- and CUL4-associated factor 17
    Gene namesi
    Name:DCAF17
    Synonyms:C2orf37
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:25784. DCAF17.

    Subcellular locationi

    Membrane Curated; Multi-pass membrane protein Curated. Nucleusnucleolus 1 Publication
    Note: According to PubMed:19026396, it is a nucleolar protein, while sequence analysis programs clearly predict 2 transmembrane regions.

    GO - Cellular componenti

    1. Cul4-RING E3 ubiquitin ligase complex Source: UniProtKB
    2. integral component of membrane Source: UniProtKB-KW
    3. nucleolus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Membrane, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Woodhouse-Sakati syndrome (WoSaS) [MIM:241080]: Rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi241080. phenotype.
    Orphaneti3464. Woodhouse-Sakati syndrome.
    PharmGKBiPA165696520.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 520520DDB1- and CUL4-associated factor 17PRO_0000300118Add
    BLAST

    Proteomic databases

    PaxDbiQ5H9S7.
    PRIDEiQ5H9S7.

    PTM databases

    PhosphoSiteiQ5H9S7.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed.1 Publication

    Gene expression databases

    ArrayExpressiQ5H9S7.
    BgeeiQ5H9S7.
    CleanExiHS_C2orf37.
    GenevestigatoriQ5H9S7.

    Organism-specific databases

    HPAiHPA053339.
    HPA055040.

    Interactioni

    Subunit structurei

    Interacts with DDB1, CUL4A and CUL4B.1 Publication

    Protein-protein interaction databases

    BioGridi123098. 7 interactions.
    IntActiQ5H9S7. 1 interaction.
    STRINGi9606.ENSP00000364404.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5H9S7.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei186 – 20621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei222 – 24221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi511 – 5144Poly-Glu

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG42771.
    HOGENOMiHOG000111319.
    HOVERGENiHBG107577.
    InParanoidiQ5H9S7.
    OMAiYQMVCDT.
    OrthoDBiEOG77Q4WJ.
    PhylomeDBiQ5H9S7.
    TreeFamiTF328801.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5H9S7-1) [UniParc]FASTAAdd to Basket

    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

    MGPTRKPNVC SRLSRRALGC FSRDAGVVQR TNLGILRALV CQESTKFKNV    50
    WTTHSRSPIA YERGRIYFDN YRRCVSSVAS EPRKLYEMPK CSKSEKIEDA 100
    LLWECPVGDI LPNSSDYKSS LIALTAHNWL LRISATTGKI LEKIYLAPYC 150
    KFRYLSWDTP QEVIAVKSAQ NRGSAVARQA GIQQHVLLYL AVFRVLPFSL 200
    VGILEINKKI FGNVTDATLS HGILIVMYSS GLVRLYSFQT IAEQFMQQKL 250
    DLGCACRWGG TTGTVGEAPF GIPCNIKITD MPPLLFEVSS LENAFQIGGH 300
    PWHYIVTPNK KKQKGVFHIC ALKDNSLAKN GIQEMDCCSL ESDWIYFHPD 350
    ASGRIIHVGP NQVKVLKLTE IENNSSQHQI SEDFVILANR ENHKNENVLT 400
    VTASGRVVKK SFNLLDDDPE QETFKIVDYE DELDLLSVVA VTQIDAEGKA 450
    HLDFHCNEYG TLLKSIPLVE SWDVTYSHEV YFDRDLVLHI EQKPNRVFSC 500
    YVYQMICDTG EEEETINRSC 520
    Length:520
    Mass (Da):58,778
    Last modified:February 15, 2005 - v1
    Checksum:i61ECEEECCC97A606
    GO
    Isoform 2 (identifier: Q5H9S7-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-280: Missing.

    Show »
    Length:240
    Mass (Da):27,472
    Checksum:i42040F23DAB0DBDC
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti504 – 5041Q → H in BAB14436. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti185 – 1851H → Q.
    Corresponds to variant rs3731984 [ dbSNP | Ensembl ].
    VAR_050711

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 280280Missing in isoform 2. 2 PublicationsVSP_027788Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK023158 mRNA. Translation: BAB14436.1.
    CR933646 mRNA. Translation: CAI45947.1.
    AC007969 Genomic DNA. Translation: AAY14729.1.
    CH471058 Genomic DNA. Translation: EAX11213.1.
    BC120957 mRNA. Translation: AAI20958.1.
    BC140843 mRNA. Translation: AAI40844.1.
    CCDSiCCDS2243.2. [Q5H9S7-1]
    RefSeqiNP_079276.2. NM_025000.3. [Q5H9S7-1]
    UniGeneiHs.659439.

    Genome annotation databases

    EnsembliENST00000375255; ENSP00000364404; ENSG00000115827. [Q5H9S7-1]
    GeneIDi80067.
    KEGGihsa:80067.
    UCSCiuc002ugx.3. human. [Q5H9S7-1]
    uc010fqg.3. human. [Q5H9S7-2]

    Polymorphism databases

    DMDMi74707874.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK023158 mRNA. Translation: BAB14436.1 .
    CR933646 mRNA. Translation: CAI45947.1 .
    AC007969 Genomic DNA. Translation: AAY14729.1 .
    CH471058 Genomic DNA. Translation: EAX11213.1 .
    BC120957 mRNA. Translation: AAI20958.1 .
    BC140843 mRNA. Translation: AAI40844.1 .
    CCDSi CCDS2243.2. [Q5H9S7-1 ]
    RefSeqi NP_079276.2. NM_025000.3. [Q5H9S7-1 ]
    UniGenei Hs.659439.

    3D structure databases

    ProteinModelPortali Q5H9S7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123098. 7 interactions.
    IntActi Q5H9S7. 1 interaction.
    STRINGi 9606.ENSP00000364404.

    PTM databases

    PhosphoSitei Q5H9S7.

    Polymorphism databases

    DMDMi 74707874.

    Proteomic databases

    PaxDbi Q5H9S7.
    PRIDEi Q5H9S7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000375255 ; ENSP00000364404 ; ENSG00000115827 . [Q5H9S7-1 ]
    GeneIDi 80067.
    KEGGi hsa:80067.
    UCSCi uc002ugx.3. human. [Q5H9S7-1 ]
    uc010fqg.3. human. [Q5H9S7-2 ]

    Organism-specific databases

    CTDi 80067.
    GeneCardsi GC02P172290.
    HGNCi HGNC:25784. DCAF17.
    HPAi HPA053339.
    HPA055040.
    MIMi 241080. phenotype.
    612515. gene.
    neXtProti NX_Q5H9S7.
    Orphaneti 3464. Woodhouse-Sakati syndrome.
    PharmGKBi PA165696520.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG42771.
    HOGENOMi HOG000111319.
    HOVERGENi HBG107577.
    InParanoidi Q5H9S7.
    OMAi YQMVCDT.
    OrthoDBi EOG77Q4WJ.
    PhylomeDBi Q5H9S7.
    TreeFami TF328801.

    Enzyme and pathway databases

    UniPathwayi UPA00143 .

    Miscellaneous databases

    GeneWikii DCAF17.
    GenomeRNAii 80067.
    NextBioi 70267.
    PROi Q5H9S7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q5H9S7.
    Bgeei Q5H9S7.
    CleanExi HS_C2orf37.
    Genevestigatori Q5H9S7.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORM 2).
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Testis carcinoma.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] (ISOFORMS 1 AND 2).
      Tissue: Brain.
    6. "A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1."
      Jin J., Arias E.E., Chen J., Harper J.W., Walter J.C.
      Mol. Cell 23:709-721(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH DDB1; CUL4A AND CUL4B, IDENTIFICATION BY MASS SPECTROMETRY.
    7. "Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome."
      Alazami A.M., Al-Saif A., Al-Semari A., Bohlega S., Zlitni S., Alzahrani F., Bavi P., Kaya N., Colak D., Khalak H., Baltus A., Peterlin B., Danda S., Bhatia K.P., Schneider S.A., Sakati N., Walsh C.A., Al-Mohanna F., Meyer B., Alkuraya F.S.
      Am. J. Hum. Genet. 83:684-691(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, ALTERNATIVE SPLICING, INVOLVEMENT IN WOSAS.

    Entry informationi

    Entry nameiDCA17_HUMAN
    AccessioniPrimary (citable) accession number: Q5H9S7
    Secondary accession number(s): B2RTW5, Q53TN3, Q9H908
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 11, 2007
    Last sequence update: February 15, 2005
    Last modified: October 1, 2014
    This is version 72 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 2
      Human chromosome 2: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways

    External Data

    Dasty 3