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Protein

DDB1- and CUL4-associated factor 17

Gene

DCAF17

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 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.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei186 – 20621HelicalSequence AnalysisAdd
BLAST
Transmembranei222 – 24221HelicalSequence AnalysisAdd
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 syndrome1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionRare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

See also OMIM:241080

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

MaxQBiQ5H9S7.
PaxDbiQ5H9S7.
PRIDEiQ5H9S7.

PTM databases

PhosphoSiteiQ5H9S7.

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiQ5H9S7.
CleanExiHS_C2orf37.
ExpressionAtlasiQ5H9S7. baseline and differential.
GenevestigatoriQ5H9S7.

Organism-specific databases

HPAiHPA053339.
HPA055040.

Interactioni

Subunit structurei

Interacts with DDB1, CUL4A and CUL4B.1 Publication

Protein-protein interaction databases

BioGridi123098. 8 interactions.
IntActiQ5H9S7. 1 interaction.
STRINGi9606.ENSP00000364404.

Structurei

3D structure databases

ProteinModelPortaliQ5H9S7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG42771.
GeneTreeiENSGT00390000012728.
HOGENOMiHOG000111319.
HOVERGENiHBG107577.
InParanoidiQ5H9S7.
OMAiYQMVCDT.
OrthoDBiEOG77Q4WJ.
PhylomeDBiQ5H9S7.
TreeFamiTF328801.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MGPTRKPNVC SRLSRRALGC FSRDAGVVQR TNLGILRALV CQESTKFKNV
60 70 80 90 100
WTTHSRSPIA YERGRIYFDN YRRCVSSVAS EPRKLYEMPK CSKSEKIEDA
110 120 130 140 150
LLWECPVGDI LPNSSDYKSS LIALTAHNWL LRISATTGKI LEKIYLAPYC
160 170 180 190 200
KFRYLSWDTP QEVIAVKSAQ NRGSAVARQA GIQQHVLLYL AVFRVLPFSL
210 220 230 240 250
VGILEINKKI FGNVTDATLS HGILIVMYSS GLVRLYSFQT IAEQFMQQKL
260 270 280 290 300
DLGCACRWGG TTGTVGEAPF GIPCNIKITD MPPLLFEVSS LENAFQIGGH
310 320 330 340 350
PWHYIVTPNK KKQKGVFHIC ALKDNSLAKN GIQEMDCCSL ESDWIYFHPD
360 370 380 390 400
ASGRIIHVGP NQVKVLKLTE IENNSSQHQI SEDFVILANR ENHKNENVLT
410 420 430 440 450
VTASGRVVKK SFNLLDDDPE QETFKIVDYE DELDLLSVVA VTQIDAEGKA
460 470 480 490 500
HLDFHCNEYG TLLKSIPLVE SWDVTYSHEV YFDRDLVLHI EQKPNRVFSC
510 520
YVYQMICDTG EEEETINRSC
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:
EMBLi
GenBanki
DDBJi
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]
ENST00000611110; ENSP00000477604; ENSG00000115827. [Q5H9S7-2]
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ5H9S7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123098. 8 interactions.
IntActiQ5H9S7. 1 interaction.
STRINGi9606.ENSP00000364404.

PTM databases

PhosphoSiteiQ5H9S7.

Polymorphism databases

DMDMi74707874.

Proteomic databases

MaxQBiQ5H9S7.
PaxDbiQ5H9S7.
PRIDEiQ5H9S7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000375255; ENSP00000364404; ENSG00000115827. [Q5H9S7-1]
ENST00000611110; ENSP00000477604; ENSG00000115827. [Q5H9S7-2]
GeneIDi80067.
KEGGihsa:80067.
UCSCiuc002ugx.3. human. [Q5H9S7-1]
uc010fqg.3. human. [Q5H9S7-2]

Organism-specific databases

CTDi80067.
GeneCardsiGC02P172290.
HGNCiHGNC:25784. DCAF17.
HPAiHPA053339.
HPA055040.
MIMi241080. phenotype.
612515. gene.
neXtProtiNX_Q5H9S7.
Orphaneti3464. Woodhouse-Sakati syndrome.
PharmGKBiPA165696520.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG42771.
GeneTreeiENSGT00390000012728.
HOGENOMiHOG000111319.
HOVERGENiHBG107577.
InParanoidiQ5H9S7.
OMAiYQMVCDT.
OrthoDBiEOG77Q4WJ.
PhylomeDBiQ5H9S7.
TreeFamiTF328801.

Enzyme and pathway databases

UniPathwayiUPA00143.

Miscellaneous databases

GeneWikiiDCAF17.
GenomeRNAii80067.
NextBioi70267.
PROiQ5H9S7.
SOURCEiSearch...

Gene expression databases

BgeeiQ5H9S7.
CleanExiHS_C2orf37.
ExpressionAtlasiQ5H9S7. baseline and differential.
GenevestigatoriQ5H9S7.

Family and domain databases

ProtoNetiSearch...

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: January 7, 2015
This is version 74 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.