Reviewed, UniProtKB/Swiss-Prot Q9H6R7 (CB044_HUMAN)

Names and origin

Protein names

Recommended name:
    WD repeat-containing protein C2orf44

Gene names

Name:	C2orf44
ORF Names:	PP384

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	721 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Sequence similarities

Contains 2 WD repeats.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil Repeat WD repeat
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Molecular function	protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
HCK	P08631	1	EBI-346906,EBI-346340
RUVBL1	Q9Y265	1	EBI-346906,EBI-353675
RUVBL2	Q9Y230	1	EBI-346906,EBI-352939

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9H6R7-1)

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: Q9H6R7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     607-622: KPYYLGPVVEKRAVLL → IPTGFFSLLTVRALSR
     623-721: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q9H6R7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-487: Missing.
     488-488: N → M

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 721	721	WD repeat-containing protein C2orf44		PRO_0000299501
Regions
	Repeat	55 – 98	44	WD 1
	Repeat	154 – 194	41	WD 2
	Coiled coil	556 – 584	29	Potential
Amino acid modifications
	Modified residue	299	1	Phosphoserine Ref.7
	Modified residue	468	1	Phosphoserine Ref.7
	Modified residue	501	1	Phosphoserine Ref.7
	Modified residue	510	1	Phosphoserine Ref.7
	Modified residue	523	1	Phosphoserine Ref.7
	Modified residue	529	1	Phosphoserine Ref.6
	Modified residue	530	1	Phosphothreonine Ref.6
	Modified residue	688	1	Phosphoserine Ref.7
	Modified residue	690	1	Phosphoserine Ref.7 Ref.8
Natural variations
	Alternative sequence	1 – 487	487	Missing in isoform 3.		VSP_027712
	Alternative sequence	488	1	N → M in isoform 3.		VSP_027715
	Alternative sequence	607 – 622	16	KPYYL…RAVLL → IPTGFFSLLTVRALSR in isoform 2.		VSP_027713
	Alternative sequence	623 – 721	99	Missing in isoform 2.		VSP_027714
	Natural variant	102	1	T → M: dbSNP rs3731620.		VAR_034834
	Natural variant	454	1	P → S in a breast cancer sample; somatic mutation. Ref.9		VAR_035876

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 4A4164C81A693DAE	FASTA	721	79,136
	10 20 30 40 50 60 MELGKGKLLR TGLNALHQAV HPIHGLAWTD GNQVVLTDLR LHSGEVKFGD SKVIGQFECV 70 80 90 100 110 120 CGLSWAPPVA DDTPVLLAVQ HEKHVTVWQL CPSPMESSKW LTSQTCEIRG SLPILPQGCV 130 140 150 160 170 180 WHPKCAILTV LTAQDVSIFP NVHSDDSQVK ADINTQGRIH CACWTQDGLR LVVAVGSSLH 190 200 210 220 230 240 SYIWDSAQKT LHRCSSCLVF DVDSHVCSIT ATVDSQVAIA TELPLDKICG LNASETFNIP 250 260 270 280 290 300 PNSKDMTPYA LPVIGEVRSM DKEATDSETN SEVSVSSSYL EPLDLTHIHF NQHKSEGNSL 310 320 330 340 350 360 ICLRKKDYLT GTGQDSSHLV LVTFKKAVTM TRKVTIPGIL VPDLIAFNLK AHVVAVASNT 370 380 390 400 410 420 CNIILIYSVI PSSVPNIQQI RLENTERPKG ICFLTDQLLL ILVGKQKLTD TTFLPSSKSD 430 440 450 460 470 480 QYAISLIVRE IMLEEEPSIT SGESQTTYST FSAPLNKANR KKLIESLSPD FCHQNKGLLL 490 500 510 520 530 540 TVNTSSQNGR PGRTLIKEIQ SPLSSICDGS IALDAEPVTQ PASLPRHSST PDHTSTLEPP 550 560 570 580 590 600 RLPQRKNLQS EKETYQLSKE VEILSRNLVE MQRCLSELTN RLHNGKKSSS VYPLSQDLPY 610 620 630 640 650 660 VHIIYQKPYY LGPVVEKRAV LLCDGKLRLS TVQQTFGLSL IEMLHDSHWI LLSADSEGFI 670 680 690 700 710 720 PLTFTATQEI IIRDGSLSRS DVFRDSFSHS PGAVSSLKVF TGLAAPSLDT TGCCNHVDGM A
	Isoform 2. Checksum: 04657B17D5096FD0	FASTA	622	68,456
	10 20 30 40 50 60 MELGKGKLLR TGLNALHQAV HPIHGLAWTD GNQVVLTDLR LHSGEVKFGD SKVIGQFECV 70 80 90 100 110 120 CGLSWAPPVA DDTPVLLAVQ HEKHVTVWQL CPSPMESSKW LTSQTCEIRG SLPILPQGCV 130 140 150 160 170 180 WHPKCAILTV LTAQDVSIFP NVHSDDSQVK ADINTQGRIH CACWTQDGLR LVVAVGSSLH 190 200 210 220 230 240 SYIWDSAQKT LHRCSSCLVF DVDSHVCSIT ATVDSQVAIA TELPLDKICG LNASETFNIP 250 260 270 280 290 300 PNSKDMTPYA LPVIGEVRSM DKEATDSETN SEVSVSSSYL EPLDLTHIHF NQHKSEGNSL 310 320 330 340 350 360 ICLRKKDYLT GTGQDSSHLV LVTFKKAVTM TRKVTIPGIL VPDLIAFNLK AHVVAVASNT 370 380 390 400 410 420 CNIILIYSVI PSSVPNIQQI RLENTERPKG ICFLTDQLLL ILVGKQKLTD TTFLPSSKSD 430 440 450 460 470 480 QYAISLIVRE IMLEEEPSIT SGESQTTYST FSAPLNKANR KKLIESLSPD FCHQNKGLLL 490 500 510 520 530 540 TVNTSSQNGR PGRTLIKEIQ SPLSSICDGS IALDAEPVTQ PASLPRHSST PDHTSTLEPP 550 560 570 580 590 600 RLPQRKNLQS EKETYQLSKE VEILSRNLVE MQRCLSELTN RLHNGKKSSS VYPLSQDLPY 610 620 VHIIYQIPTG FFSLLTVRAL SR
	Isoform 3. Checksum: D06EAF3E6B5A9073	FASTA	234	25,845
	10 20 30 40 50 60 MGRPGRTLIK EIQSPLSSIC DGSIALDAEP VTQPASLPRH SSTPDHTSTL EPPRLPQRKN 70 80 90 100 110 120 LQSEKETYQL SKEVEILSRN LVEMQRCLSE LTNRLHNGKK SSSVYPLSQD LPYVHIIYQK 130 140 150 160 170 180 PYYLGPVVEK RAVLLCDGKL RLSTVQQTFG LSLIEMLHDS HWILLSADSE GFIPLTFTAT 190 200 210 220 230 QEIIIRDGSL SRSDVFRDSF SHSPGAVSSL KVFTGLAAPS LDTTGCCNHV DGMA

References

[1]	"Large-scale cDNA transfection screening for genes related to cancer development and progression." Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J. Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed: 15498874] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[2]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Hepatoma.
[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: 15815621] [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 (DEC-2006) 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Eye.
[6]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-529 AND THR-530, MASS SPECTROMETRY.
[7]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-299; SER-468; SER-501; SER-510; SER-523; SER-688 AND SER-690, MASS SPECTROMETRY.
[8]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-690, MASS SPECTROMETRY.
[9]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-454.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF218013 mRNA. Translation: AAG17255.1. AK025598 mRNA. Translation: BAB15186.1. AC104665 Genomic DNA. Translation: AAY24115.1. CH471053 Genomic DNA. Translation: EAX00771.1. BC035698 mRNA. Translation: AAH35698.1.
IPI	IPI00018786. IPI00855958. IPI00855990.
RefSeq	NP_001135791.1. NP_079479.1.
UniGene	Hs.24624
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H6R7. 6 interactions.
STRING	Q9H6R7.
PTM databases
PhosphoSite	Q9H6R7.
Proteomic databases
PRIDE	Q9H6R7.
Genome annotation databases
Ensembl	ENST00000295148; ENSP00000295148; ENSG00000163026; Homo sapiens. [Genome view] ENST00000406895; ENSP00000385816; ENSG00000163026; Homo sapiens. [Genome view] ENST00000443232; ENSP00000413426; ENSG00000163026; Homo sapiens. [Genome view]
GeneID	80304.
KEGG	hsa:80304.
UCSC	uc002rep.1. human. uc010eya.1. human.
Organism-specific databases
CTD	80304.
GeneCards	GC02M024105.
HGNC	HGNC:26157. C2orf44.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q9H6R7.
HOVERGEN	Q9H6R7.
OMA	HSYIWDS.
Gene expression databases
ArrayExpress	Q9H6R7.
Bgee	Q9H6R7.
CleanEx	HS_C2orf44.
Genevestigator	Q9H6R7.
Family and domain databases
InterPro	IPR019775. WD40_repeat_CS. [Graphical view]
PROSITE	PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. False negative. PS50294. WD_REPEATS_REGION. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	70768.

Entry information

Entry name

CB044_HUMAN

Accession

Primary (citable) accession number: Q9H6R7
Secondary accession number(s): Q8IYK0, Q9HBP5

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 11, 2007
Last sequence update:	March 1, 2001
Last modified:	November 3, 2009
This is version 48 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.