Q5H9S7 (DCA17_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
DDB1- and CUL4-associated factor 17

Gene names

Name:	DCAF17
Synonyms:	C2orf37

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	520 AA.
Sequence status	Complete.
Protein existence	Evidence 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. Nucleus › nucleolus. 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 process	Ubl conjugation pathway
Cellular component	Membrane Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	protein ubiquitination Inferred by curator Ref.6. Source: UniProtKB
Cellular_component	Cul4-RING ubiquitin ligase complex Inferred from direct assay Ref.6. Source: UniProtKB integral to 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 520	520	DDB1- and CUL4-associated factor 17		PRO_0000300118
Regions
	Transmembrane	186 – 206	21	Helical; Potential
	Transmembrane	222 – 242	21	Helical; Potential
	Compositional bias	511 – 514	4	Poly-Glu
Natural variations
	Alternative sequence	1 – 280	280	Missing in isoform 2.		VSP_027788
	Natural variant	185	1	H → Q. Corresponds to variant rs3731984 [ dbSNP | Ensembl ].		VAR_050711
Experimental info
	Sequence conflict	504	1	Q → H in BAB14436. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 15, 2005. Version 1. Checksum: 61ECEEECCC97A606	FASTA	520	58,778
	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
	Isoform 2 [UniParc]. Checksum: 42040F23DAB0DBDC	FASTA	240	27,472
	10 20 30 40 50 60 MPPLLFEVSS LENAFQIGGH PWHYIVTPNK KKQKGVFHIC ALKDNSLAKN GIQEMDCCSL 70 80 90 100 110 120 ESDWIYFHPD ASGRIIHVGP NQVKVLKLTE IENNSSQHQI SEDFVILANR ENHKNENVLT 130 140 150 160 170 180 VTASGRVVKK SFNLLDDDPE QETFKIVDYE DELDLLSVVA VTQIDAEGKA HLDFHCNEYG 190 200 210 220 230 240 TLLKSIPLVE SWDVTYSHEV YFDRDLVLHI EQKPNRVFSC YVYQMICDTG EEEETINRSC

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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.
IPI	IPI00017389. IPI00748551.
RefSeq	NP_001158293.1. NM_001164821.1. NP_079276.2. NM_025000.3.
UniGene	Hs.659439.
3D structure databases
ProteinModelPortal	Q5H9S7.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q5H9S7. 1 interaction.
STRING	9606.ENSP00000364404.
PTM databases
PhosphoSite	Q5H9S7.
Polymorphism databases
DMDM	74707874.
Proteomic databases
PaxDb	Q5H9S7.
PRIDE	Q5H9S7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000375255; ENSP00000364404; ENSG00000115827.
GeneID	80067.
KEGG	hsa:80067.
UCSC	uc002ugx.3. human. uc010fqg.3. human.
Organism-specific databases
CTD	80067.
GeneCards	GC02P172290.
HGNC	HGNC:25784. DCAF17.
HPA	HPA053339. HPA055040.
MIM	241080. phenotype. 612515. gene.
neXtProt	NX_Q5H9S7.
Orphanet	3464. Woodhouse-Sakati syndrome.
PharmGKB	PA165696520.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG42771.
HOGENOM	HOG000111319.
HOVERGEN	HBG107577.
InParanoid	Q5H9S7.
OMA	NIKITDT.
OrthoDB	EOG4D52XC.
Enzyme and pathway databases
UniPathway	UPA00143.
Gene expression databases
ArrayExpress	Q5H9S7.
Bgee	Q5H9S7.
CleanEx	HS_C2orf37.
Genevestigator	Q5H9S7.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	80067.
NextBio	70267.
SOURCE	Search...

Entry information

Entry name

DCA17_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 62 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.