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Q96ER9

- CCD51_HUMAN

UniProt

Q96ER9 - CCD51_HUMAN

Protein

Coiled-coil domain-containing protein 51

Gene

CCDC51

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 79 (01 Oct 2014)
      Sequence version 2 (29 May 2007)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Coiled-coil domain-containing protein 51
    Gene namesi
    Name:CCDC51
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:25714. CCDC51.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. mitochondrion Source: HPA
    3. nucleus Source: HPA

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142672167.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 411411Coiled-coil domain-containing protein 51PRO_0000288868Add
    BLAST

    Proteomic databases

    MaxQBiQ96ER9.
    PaxDbiQ96ER9.
    PRIDEiQ96ER9.

    PTM databases

    PhosphoSiteiQ96ER9.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96ER9.
    BgeeiQ96ER9.
    CleanExiHS_CCDC51.
    GenevestigatoriQ96ER9.

    Organism-specific databases

    HPAiHPA010980.
    HPA011408.

    Interactioni

    Protein-protein interaction databases

    BioGridi122831. 2 interactions.
    STRINGi9606.ENSP00000296441.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96ER9.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei202 – 22221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei387 – 40721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili111 – 17363Sequence AnalysisAdd
    BLAST

    Keywords - Domaini

    Coiled coil, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG83482.
    HOGENOMiHOG000111419.
    HOVERGENiHBG100936.
    InParanoidiQ96ER9.
    OMAiMTRTLCS.
    OrthoDBiEOG7W6WN1.
    PhylomeDBiQ96ER9.
    TreeFamiTF318449.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96ER9-1) [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

    MMGRSPGFAM QHIVGVPHVL VRRGLLGRDL FMTRTLCSPG PSQPGEKRPE    50
    EVALGLHHRL PALGRALGHS IQQRATSTAK TWWDRYEEFV GLNEVREAQG 100
    KVTEAEKVFM VARGLVREAR EDLEVHQAKL KEVRDRLDRV SREDSQYLEL 150
    ATLEHRMLQE EKRLRTAYLR AEDSEREKFS LFSAAVRESH EKERTRAERT 200
    KNWSLIGSVL GALIGVAGST YVNRVRLQEL KALLLEAQKG PVSLQEAIRE 250
    QASSYSRQQR DLHNLMVDLR GLVHAAGPGQ DSGSQAGSPP TRDRDVDVLS 300
    AALKEQLSHS RQVHSCLEGL REQLDGLEKT CSQMAGVVQL VKSAAHPGLV 350
    EPADGAMPSF LLEQGSMILA LSDTEQRLEA QVNRNTIYST LVTCVTFVAT 400
    LPVLYMLFKA S 411
    Length:411
    Mass (Da):45,811
    Last modified:May 29, 2007 - v2
    Checksum:iD99F1D8AF9EB8C04
    GO
    Isoform 2 (identifier: Q96ER9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-109: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:302
    Mass (Da):33,657
    Checksum:i12C2189386744A44
    GO

    Sequence cautioni

    The sequence AAH11993.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti360 – 3601F → S.
    Corresponds to variant rs7618609 [ dbSNP | Ensembl ].
    VAR_032515

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 109109Missing in isoform 2. 1 PublicationVSP_025800Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK022498 mRNA. Translation: BAB14060.1.
    BC011993 mRNA. Translation: AAH11993.1. Different initiation.
    CCDSiCCDS2766.2. [Q96ER9-1]
    CCDS58830.1. [Q96ER9-2]
    RefSeqiNP_001243893.1. NM_001256964.1. [Q96ER9-1]
    NP_001243894.1. NM_001256965.2. [Q96ER9-2]
    NP_001243895.1. NM_001256966.2. [Q96ER9-2]
    NP_001243896.1. NM_001256967.2. [Q96ER9-2]
    NP_001243897.1. NM_001256968.2. [Q96ER9-2]
    NP_001243898.1. NM_001256969.2. [Q96ER9-2]
    NP_078937.3. NM_024661.4. [Q96ER9-1]
    UniGeneiHs.187657.
    Hs.740720.

    Genome annotation databases

    EnsembliENST00000395694; ENSP00000379047; ENSG00000164051. [Q96ER9-1]
    ENST00000412398; ENSP00000401194; ENSG00000164051. [Q96ER9-2]
    ENST00000442740; ENSP00000392898; ENSG00000164051. [Q96ER9-2]
    ENST00000447018; ENSP00000412300; ENSG00000164051. [Q96ER9-2]
    GeneIDi79714.
    KEGGihsa:79714.
    UCSCiuc003ctc.3. human. [Q96ER9-1]

    Polymorphism databases

    DMDMi152032342.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK022498 mRNA. Translation: BAB14060.1 .
    BC011993 mRNA. Translation: AAH11993.1 . Different initiation.
    CCDSi CCDS2766.2. [Q96ER9-1 ]
    CCDS58830.1. [Q96ER9-2 ]
    RefSeqi NP_001243893.1. NM_001256964.1. [Q96ER9-1 ]
    NP_001243894.1. NM_001256965.2. [Q96ER9-2 ]
    NP_001243895.1. NM_001256966.2. [Q96ER9-2 ]
    NP_001243896.1. NM_001256967.2. [Q96ER9-2 ]
    NP_001243897.1. NM_001256968.2. [Q96ER9-2 ]
    NP_001243898.1. NM_001256969.2. [Q96ER9-2 ]
    NP_078937.3. NM_024661.4. [Q96ER9-1 ]
    UniGenei Hs.187657.
    Hs.740720.

    3D structure databases

    ProteinModelPortali Q96ER9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122831. 2 interactions.
    STRINGi 9606.ENSP00000296441.

    PTM databases

    PhosphoSitei Q96ER9.

    Polymorphism databases

    DMDMi 152032342.

    Proteomic databases

    MaxQBi Q96ER9.
    PaxDbi Q96ER9.
    PRIDEi Q96ER9.

    Protocols and materials databases

    DNASUi 79714.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000395694 ; ENSP00000379047 ; ENSG00000164051 . [Q96ER9-1 ]
    ENST00000412398 ; ENSP00000401194 ; ENSG00000164051 . [Q96ER9-2 ]
    ENST00000442740 ; ENSP00000392898 ; ENSG00000164051 . [Q96ER9-2 ]
    ENST00000447018 ; ENSP00000412300 ; ENSG00000164051 . [Q96ER9-2 ]
    GeneIDi 79714.
    KEGGi hsa:79714.
    UCSCi uc003ctc.3. human. [Q96ER9-1 ]

    Organism-specific databases

    CTDi 79714.
    GeneCardsi GC03M048450.
    H-InvDB HIX0003284.
    HGNCi HGNC:25714. CCDC51.
    HPAi HPA010980.
    HPA011408.
    neXtProti NX_Q96ER9.
    PharmGKBi PA142672167.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG83482.
    HOGENOMi HOG000111419.
    HOVERGENi HBG100936.
    InParanoidi Q96ER9.
    OMAi MTRTLCS.
    OrthoDBi EOG7W6WN1.
    PhylomeDBi Q96ER9.
    TreeFami TF318449.

    Miscellaneous databases

    GenomeRNAii 79714.
    NextBioi 69051.
    PROi Q96ER9.

    Gene expression databases

    ArrayExpressi Q96ER9.
    Bgeei Q96ER9.
    CleanExi HS_CCDC51.
    Genevestigatori Q96ER9.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "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 2).
    2. "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 1).
      Tissue: Ovary.
    3. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiCCD51_HUMAN
    AccessioniPrimary (citable) accession number: Q96ER9
    Secondary accession number(s): Q9HA01
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 29, 2007
    Last sequence update: May 29, 2007
    Last modified: October 1, 2014
    This is version 79 of the entry and version 2 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 3
      Human chromosome 3: 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

    External Data

    Dasty 3