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Q9H6R7 (CB044_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 86. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | 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:
WD repeat-containing protein C2orf44
Gene names
Name:C2orf44
ORF Names:PP384
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length721 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Sequence similarities

Contains 2 WD repeats.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
Repeat
WD repeat
   PTMAcetylation
Phosphoprotein
   Technical termComplete 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 721721WD repeat-containing protein C2orf44
PRO_0000299501

Regions

Repeat55 – 9844WD 1
Repeat154 – 19441WD 2
Coiled coil556 – 58429 Potential

Amino acid modifications

Modified residue11N-acetylmethionine Ref.11
Modified residue2991Phosphoserine Ref.7
Modified residue5011Phosphoserine Ref.7
Modified residue5231Phosphoserine Ref.7
Modified residue6901Phosphoserine Ref.8 Ref.9

Natural variations

Alternative sequence1 – 487487Missing in isoform 3.
VSP_027712
Alternative sequence4881N → M in isoform 3.
VSP_027715
Alternative sequence607 – 62216KPYYL…RAVLL → IPTGFFSLLTVRALSR in isoform 2.
VSP_027713
Alternative sequence623 – 72199Missing in isoform 2.
VSP_027714
Natural variant1021T → M.
Corresponds to variant rs3731620 [ dbSNP | Ensembl ].
VAR_034834
Natural variant4541P → S in a breast cancer sample; somatic mutation. Ref.12
VAR_035876

Sequences

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

Last modified March 1, 2001. Version 1.
Checksum: 4A4164C81A693DAE

FASTA72179,136
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 04657B17D5096FD0
Show »

FASTA62268,456
Isoform 3 [UniParc].

Checksum: D06EAF3E6B5A9073
Show »

FASTA23425,845

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. expand/collapse author list , 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. 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 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. 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]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 (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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]"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. expand/collapse author list , 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.
RefSeqNP_001135791.1. NM_001142319.1.
NP_079479.1. NM_025203.2.
UniGeneHs.24624.

3D structure databases

ProteinModelPortalQ9H6R7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123217. 16 interactions.
IntActQ9H6R7. 16 interactions.
MINTMINT-1370597.
STRING9606.ENSP00000295148.

PTM databases

PhosphoSiteQ9H6R7.

Polymorphism databases

DMDM74752699.

Proteomic databases

PaxDbQ9H6R7.
PRIDEQ9H6R7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000295148; ENSP00000295148; ENSG00000163026. [Q9H6R7-1]
ENST00000406895; ENSP00000385816; ENSG00000163026. [Q9H6R7-2]
GeneID80304.
KEGGhsa:80304.
UCSCuc002rep.2. human. [Q9H6R7-1]
uc010eya.2. human. [Q9H6R7-2]

Organism-specific databases

CTD80304.
GeneCardsGC02M024252.
H-InvDBHIX0001870.
HGNCHGNC:26157. C2orf44.
HPAHPA041054.
neXtProtNX_Q9H6R7.
PharmGKBPA147358716.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41788.
HOGENOMHOG000111320.
HOVERGENHBG055062.
InParanoidQ9H6R7.
OMAVWQLCPS.
OrthoDBEOG7P02HR.
PhylomeDBQ9H6R7.
TreeFamTF333528.

Gene expression databases

ArrayExpressQ9H6R7.
BgeeQ9H6R7.
CleanExHS_C2orf44.
GenevestigatorQ9H6R7.

Family and domain databases

InterProIPR028041. DUF4613.
[Graphical view]
PfamPF15390. DUF4613. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi80304.
NextBio70768.

Entry information

Entry nameCB044_HUMAN
AccessionPrimary (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 16, 2014
This is version 86 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

SIMILARITY comments

Index of protein domains and families

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