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Q5H9S7

- DCA17_HUMAN

UniProt

Q5H9S7 - DCA17_HUMAN

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Protein
DDB1- and CUL4-associated factor 17
Gene
DCAF17, C2orf37
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei186 – 20621Helical; Reviewed prediction
Add
BLAST
Transmembranei222 – 24221Helical; Reviewed prediction
Add
BLAST

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
Complete GO annotation...

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.
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 17
PRO_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.

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

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.
VSP_027788Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti504 – 5041Q → H in BAB14436. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 71 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

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