Q9H6R7 (CB044_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
WD repeat-containing protein C2orf44

Gene names

Name:	C2orf44
ORF Names:	PP384

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	721 AA.
Sequence status	Complete.
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 Reference proteome
Gene Ontology (GO)
None. [Check GOA]

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	501	1	Phosphoserine Ref.7
	Modified residue	523	1	Phosphoserine Ref.7
	Modified residue	690	1	Phosphoserine Ref.8 Ref.9
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. Corresponds to variant rs3731620 [ dbSNP | Ensembl ].		VAR_034834
	Natural variant	454	1	P → S in a breast cancer sample; somatic mutation. Ref.11		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 [UniParc]. 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 [UniParc]. 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] [Europe PMC] [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] [Europe PMC] [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] [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]	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].
[6]	"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] (ISOFORM 2). Tissue: Eye.
[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] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-299; SER-501 AND SER-523, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[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] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-690, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[9]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-690, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[10]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]	"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] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-454.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF218013 mRNA. Translation: AAG17255.1. AK025598 mRNA. Translation: BAB15186.1. AC104665 Genomic DNA. Translation: AAY24115.1. CH471053 Genomic DNA. Translation: EAX00771.1. CH471053 Genomic DNA. Translation: EAX00772.1. BC035698 mRNA. Translation: AAH35698.1.
IPI	IPI00018786. IPI00855958. IPI00855990.
RefSeq	NP_001135791.1. NM_001142319.1. NP_079479.1. NM_025203.2.
UniGene	Hs.24624.
3D structure databases
ProteinModelPortal	Q9H6R7.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H6R7. 5 interactions.
MINT	MINT-1370597.
STRING	9606.ENSP00000295148.
PTM databases
PhosphoSite	Q9H6R7.
Polymorphism databases
DMDM	74752699.
Proteomic databases
PaxDb	Q9H6R7.
PRIDE	Q9H6R7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000295148; ENSP00000295148; ENSG00000163026. ENST00000406895; ENSP00000385816; ENSG00000163026.
GeneID	80304.
KEGG	hsa:80304.
UCSC	uc002rep.2. human. uc010eya.2. human.
Organism-specific databases
CTD	80304.
GeneCards	GC02M024252.
H-InvDB	HIX0001870.
HGNC	HGNC:26157. C2orf44.
HPA	HPA041054.
neXtProt	NX_Q9H6R7.
PharmGKB	PA147358716.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG41788.
HOGENOM	HOG000111320.
HOVERGEN	HBG055062.
InParanoid	Q9H6R7.
OMA	VWQLCPS.
OrthoDB	EOG4JT050.
PhylomeDB	Q9H6R7.
Gene expression databases
ArrayExpress	Q9H6R7.
Bgee	Q9H6R7.
CleanEx	HS_C2orf44.
Genevestigator	Q9H6R7.
Family and domain databases
PROSITE	PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. False negative. PS50294. WD_REPEATS_REGION. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	80304.
NextBio	70768.

Entry information

Entry name

CB044_HUMAN

Accession

Primary (citable) accession number: Q9H6R7
Secondary accession number(s): D6W532, Q8IYK0, Q9HBP5

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 11, 2007
Last sequence update:	March 1, 2001
Last modified:	April 3, 2013
This is version 78 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.