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Q9H6R7

- CB044_HUMAN

UniProt

Q9H6R7 - CB044_HUMAN

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Protein
WD repeat-containing protein C2orf44
Gene
C2orf44, PP384
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
WD repeat-containing protein C2orf44
Gene namesi
Name:C2orf44
ORF Names:PP384
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:26157. C2orf44.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA147358716.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 721721WD repeat-containing protein C2orf44
PRO_0000299501Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication
Modified residuei299 – 2991Phosphoserine1 Publication
Modified residuei501 – 5011Phosphoserine1 Publication
Modified residuei523 – 5231Phosphoserine1 Publication
Modified residuei690 – 6901Phosphoserine2 Publications

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ9H6R7.
PaxDbiQ9H6R7.
PRIDEiQ9H6R7.

PTM databases

PhosphoSiteiQ9H6R7.

Expressioni

Gene expression databases

ArrayExpressiQ9H6R7.
BgeeiQ9H6R7.
CleanExiHS_C2orf44.
GenevestigatoriQ9H6R7.

Organism-specific databases

HPAiHPA041054.

Interactioni

Protein-protein interaction databases

BioGridi123217. 17 interactions.
IntActiQ9H6R7. 16 interactions.
MINTiMINT-1370597.
STRINGi9606.ENSP00000295148.

Structurei

3D structure databases

ProteinModelPortaliQ9H6R7.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati55 – 9844WD 1
Add
BLAST
Repeati154 – 19441WD 2
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili556 – 58429 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Contains 2 WD repeats.

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

eggNOGiNOG41788.
HOGENOMiHOG000111320.
HOVERGENiHBG055062.
InParanoidiQ9H6R7.
OMAiLHDSHWI.
OrthoDBiEOG7P02HR.
PhylomeDBiQ9H6R7.
TreeFamiTF333528.

Family and domain databases

InterProiIPR028041. DUF4613.
[Graphical view]
PfamiPF15390. DUF4613. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9H6R7-1) [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

MELGKGKLLR TGLNALHQAV HPIHGLAWTD GNQVVLTDLR LHSGEVKFGD    50
SKVIGQFECV CGLSWAPPVA DDTPVLLAVQ HEKHVTVWQL CPSPMESSKW 100
LTSQTCEIRG SLPILPQGCV WHPKCAILTV LTAQDVSIFP NVHSDDSQVK 150
ADINTQGRIH CACWTQDGLR LVVAVGSSLH SYIWDSAQKT LHRCSSCLVF 200
DVDSHVCSIT ATVDSQVAIA TELPLDKICG LNASETFNIP PNSKDMTPYA 250
LPVIGEVRSM DKEATDSETN SEVSVSSSYL EPLDLTHIHF NQHKSEGNSL 300
ICLRKKDYLT GTGQDSSHLV LVTFKKAVTM TRKVTIPGIL VPDLIAFNLK 350
AHVVAVASNT CNIILIYSVI PSSVPNIQQI RLENTERPKG ICFLTDQLLL 400
ILVGKQKLTD TTFLPSSKSD QYAISLIVRE IMLEEEPSIT SGESQTTYST 450
FSAPLNKANR KKLIESLSPD FCHQNKGLLL TVNTSSQNGR PGRTLIKEIQ 500
SPLSSICDGS IALDAEPVTQ PASLPRHSST PDHTSTLEPP RLPQRKNLQS 550
EKETYQLSKE VEILSRNLVE MQRCLSELTN RLHNGKKSSS VYPLSQDLPY 600
VHIIYQKPYY LGPVVEKRAV LLCDGKLRLS TVQQTFGLSL IEMLHDSHWI 650
LLSADSEGFI PLTFTATQEI IIRDGSLSRS DVFRDSFSHS PGAVSSLKVF 700
TGLAAPSLDT TGCCNHVDGM A 721
Length:721
Mass (Da):79,136
Last modified:March 1, 2001 - v1
Checksum:i4A4164C81A693DAE
GO
Isoform 2 (identifier: Q9H6R7-2) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:622
Mass (Da):68,456
Checksum:i04657B17D5096FD0
GO
Isoform 3 (identifier: Q9H6R7-3) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:234
Mass (Da):25,845
Checksum:iD06EAF3E6B5A9073
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti102 – 1021T → M.
Corresponds to variant rs3731620 [ dbSNP | Ensembl ].
VAR_034834
Natural varianti454 – 4541P → S in a breast cancer sample; somatic mutation. 1 Publication
VAR_035876

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 487487Missing in isoform 3.
VSP_027712Add
BLAST
Alternative sequencei488 – 4881N → M in isoform 3.
VSP_027715
Alternative sequencei607 – 62216KPYYL…RAVLL → IPTGFFSLLTVRALSR in isoform 2.
VSP_027713Add
BLAST
Alternative sequencei623 – 72199Missing in isoform 2.
VSP_027714Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS1705.1. [Q9H6R7-1]
CCDS46229.1. [Q9H6R7-2]
RefSeqiNP_001135791.1. NM_001142319.1. [Q9H6R7-2]
NP_079479.1. NM_025203.2. [Q9H6R7-1]
UniGeneiHs.24624.

Genome annotation databases

EnsembliENST00000295148; ENSP00000295148; ENSG00000163026. [Q9H6R7-1]
ENST00000406895; ENSP00000385816; ENSG00000163026. [Q9H6R7-2]
GeneIDi80304.
KEGGihsa:80304.
UCSCiuc002rep.2. human. [Q9H6R7-1]
uc010eya.2. human. [Q9H6R7-2]

Polymorphism databases

DMDMi74752699.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS1705.1. [Q9H6R7-1 ]
CCDS46229.1. [Q9H6R7-2 ]
RefSeqi NP_001135791.1. NM_001142319.1. [Q9H6R7-2 ]
NP_079479.1. NM_025203.2. [Q9H6R7-1 ]
UniGenei Hs.24624.

3D structure databases

ProteinModelPortali Q9H6R7.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123217. 17 interactions.
IntActi Q9H6R7. 16 interactions.
MINTi MINT-1370597.
STRINGi 9606.ENSP00000295148.

PTM databases

PhosphoSitei Q9H6R7.

Polymorphism databases

DMDMi 74752699.

Proteomic databases

MaxQBi Q9H6R7.
PaxDbi Q9H6R7.
PRIDEi Q9H6R7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000295148 ; ENSP00000295148 ; ENSG00000163026 . [Q9H6R7-1 ]
ENST00000406895 ; ENSP00000385816 ; ENSG00000163026 . [Q9H6R7-2 ]
GeneIDi 80304.
KEGGi hsa:80304.
UCSCi uc002rep.2. human. [Q9H6R7-1 ]
uc010eya.2. human. [Q9H6R7-2 ]

Organism-specific databases

CTDi 80304.
GeneCardsi GC02M024252.
H-InvDB HIX0001870.
HGNCi HGNC:26157. C2orf44.
HPAi HPA041054.
neXtProti NX_Q9H6R7.
PharmGKBi PA147358716.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG41788.
HOGENOMi HOG000111320.
HOVERGENi HBG055062.
InParanoidi Q9H6R7.
OMAi LHDSHWI.
OrthoDBi EOG7P02HR.
PhylomeDBi Q9H6R7.
TreeFami TF333528.

Miscellaneous databases

GenomeRNAii 80304.
NextBioi 70768.

Gene expression databases

ArrayExpressi Q9H6R7.
Bgeei Q9H6R7.
CleanExi HS_C2orf44.
Genevestigatori Q9H6R7.

Family and domain databases

InterProi IPR028041. DUF4613.
[Graphical view ]
Pfami PF15390. DUF4613. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. 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. 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. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-454.

Entry informationi

Entry nameiCB044_HUMAN
AccessioniPrimary (citable) accession number: Q9H6R7
Secondary accession number(s): D6W532, Q8IYK0, Q9HBP5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: March 1, 2001
Last modified: September 3, 2014
This is version 89 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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