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Q9H6R7

- CB044_HUMAN

UniProt

Q9H6R7 - CB044_HUMAN

Protein

WD repeat-containing protein C2orf44

Gene

C2orf44

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    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 C2orf44PRO_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. 18 interactions.
    IntActiQ9H6R7. 16 interactions.
    MINTiMINT-1370597.
    STRINGi9606.ENSP00000295148.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H6R7.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

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

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili556 – 58429Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Contains 2 WD repeats.Curated

    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. 1 PublicationVSP_027712Add
    BLAST
    Alternative sequencei488 – 4881N → M in isoform 3. 1 PublicationVSP_027715
    Alternative sequencei607 – 62216KPYYL…RAVLL → IPTGFFSLLTVRALSR in isoform 2. 1 PublicationVSP_027713Add
    BLAST
    Alternative sequencei623 – 72199Missing in isoform 2. 1 PublicationVSP_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. 18 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: October 1, 2014
    This is version 90 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