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Q5H9S7 (DCA17_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 71. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
DDB1- and CUL4-associated factor 17
Gene names
Name:DCAF17
Synonyms:C2orf37
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length520 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. Ref.6

Pathway

Protein modification; protein ubiquitination.

Subunit structure

Interacts with DDB1, CUL4A and CUL4B. Ref.6

Subcellular location

Membrane; Multi-pass membrane protein Potential. Nucleusnucleolus. Note: According to Ref.7, it is a nucleolar protein, while sequence analysis programs clearly predict 2 transmembrane regions. Ref.7

Tissue specificity

Ubiquitously expressed. Ref.7

Involvement in disease

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.

Ontologies

Keywords
   Biological processUbl conjugation pathway
   Cellular componentMembrane
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processprotein ubiquitination

Inferred by curator Ref.6. Source: UniProtKB

   Cellular_componentCul4-RING E3 ubiquitin ligase complex

Inferred from direct assay Ref.6. Source: UniProtKB

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

nucleolus

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5H9S7-1)

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.
Isoform 2 (identifier: Q5H9S7-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 520520DDB1- and CUL4-associated factor 17
PRO_0000300118

Regions

Transmembrane186 – 20621Helical; Potential
Transmembrane222 – 24221Helical; Potential
Compositional bias511 – 5144Poly-Glu

Natural variations

Alternative sequence1 – 280280Missing in isoform 2.
VSP_027788
Natural variant1851H → Q.
Corresponds to variant rs3731984 [ dbSNP | Ensembl ].
VAR_050711

Experimental info

Sequence conflict5041Q → H in BAB14436. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 15, 2005. Version 1.
Checksum: 61ECEEECCC97A606

FASTA52058,778
        10         20         30         40         50         60 
MGPTRKPNVC SRLSRRALGC FSRDAGVVQR TNLGILRALV CQESTKFKNV WTTHSRSPIA 

        70         80         90        100        110        120 
YERGRIYFDN YRRCVSSVAS EPRKLYEMPK CSKSEKIEDA LLWECPVGDI LPNSSDYKSS 

       130        140        150        160        170        180 
LIALTAHNWL LRISATTGKI LEKIYLAPYC KFRYLSWDTP QEVIAVKSAQ NRGSAVARQA 

       190        200        210        220        230        240 
GIQQHVLLYL AVFRVLPFSL VGILEINKKI FGNVTDATLS HGILIVMYSS GLVRLYSFQT 

       250        260        270        280        290        300 
IAEQFMQQKL DLGCACRWGG TTGTVGEAPF GIPCNIKITD MPPLLFEVSS LENAFQIGGH 

       310        320        330        340        350        360 
PWHYIVTPNK KKQKGVFHIC ALKDNSLAKN GIQEMDCCSL ESDWIYFHPD ASGRIIHVGP 

       370        380        390        400        410        420 
NQVKVLKLTE IENNSSQHQI SEDFVILANR ENHKNENVLT VTASGRVVKK SFNLLDDDPE 

       430        440        450        460        470        480 
QETFKIVDYE DELDLLSVVA VTQIDAEGKA HLDFHCNEYG TLLKSIPLVE SWDVTYSHEV 

       490        500        510        520 
YFDRDLVLHI EQKPNRVFSC YVYQMICDTG EEEETINRSC 

« Hide

Isoform 2 [UniParc].

Checksum: 42040F23DAB0DBDC
Show »

FASTA24027,472

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS2243.2. [Q5H9S7-1]
RefSeqNP_079276.2. NM_025000.3. [Q5H9S7-1]
UniGeneHs.659439.

3D structure databases

ProteinModelPortalQ5H9S7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123098. 7 interactions.
IntActQ5H9S7. 1 interaction.
STRING9606.ENSP00000364404.

PTM databases

PhosphoSiteQ5H9S7.

Polymorphism databases

DMDM74707874.

Proteomic databases

PaxDbQ5H9S7.
PRIDEQ5H9S7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000375255; ENSP00000364404; ENSG00000115827. [Q5H9S7-1]
GeneID80067.
KEGGhsa:80067.
UCSCuc002ugx.3. human. [Q5H9S7-1]
uc010fqg.3. human. [Q5H9S7-2]

Organism-specific databases

CTD80067.
GeneCardsGC02P172290.
HGNCHGNC:25784. DCAF17.
HPAHPA053339.
HPA055040.
MIM241080. phenotype.
612515. gene.
neXtProtNX_Q5H9S7.
Orphanet3464. Woodhouse-Sakati syndrome.
PharmGKBPA165696520.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42771.
HOGENOMHOG000111319.
HOVERGENHBG107577.
InParanoidQ5H9S7.
OMAYQMVCDT.
OrthoDBEOG77Q4WJ.
PhylomeDBQ5H9S7.
TreeFamTF328801.

Enzyme and pathway databases

UniPathwayUPA00143.

Gene expression databases

ArrayExpressQ5H9S7.
BgeeQ5H9S7.
CleanExHS_C2orf37.
GenevestigatorQ5H9S7.

Family and domain databases

ProtoNetSearch...

Other

GeneWikiDCAF17.
GenomeRNAi80067.
NextBio70267.
PROQ5H9S7.
SOURCESearch...

Entry information

Entry nameDCA17_HUMAN
AccessionPrimary (citable) accession number: Q5H9S7
Secondary accession number(s): B2RTW5, Q53TN3, Q9H908
Entry history
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 statusReviewed (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.

Relevant documents

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM