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O60826

- CCD22_HUMAN

UniProt

O60826 - CCD22_HUMAN

Protein

Coiled-coil domain-containing protein 22

Gene

CCDC22

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 1 (01 Aug 1998)
      Previous versions | rss
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    Functioni

    Enzyme and pathway databases

    SignaLinkiO60826.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Coiled-coil domain-containing protein 22
    Gene namesi
    Name:CCDC22
    Synonyms:CXorf37
    ORF Names:JM1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:28909. CCDC22.

    Pathology & Biotechi

    Involvement in diseasei

    May be involved in X-linked syndromic mental retardation (PubMed:21826058). CCDC22 expression has been found to be down-regulated in a family with a phenotype consistent with X-linked syndromic mental retardation, and carrying variant Ala-17. In addition to intellectual disability, affected individuals have cardiac and skeletal abnormalities.1 Publication

    Keywords - Diseasei

    Mental retardation

    Organism-specific databases

    PharmGKBiPA134947763.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 627627Coiled-coil domain-containing protein 22PRO_0000076199Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei410 – 4101Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiO60826.
    PaxDbiO60826.
    PeptideAtlasiO60826.
    PRIDEiO60826.

    PTM databases

    PhosphoSiteiO60826.

    Expressioni

    Tissue specificityi

    Widely expressed in adult tissues and in fetal liver and brain, with highest levels in prostate and lowest in skeletal muscle.1 Publication

    Gene expression databases

    BgeeiO60826.
    CleanExiHS_CCDC22.
    GenevestigatoriO60826.

    Organism-specific databases

    HPAiHPA000888.

    Interactioni

    Subunit structurei

    Interacts with CPNE1 and CPNE4.By similarity

    Protein-protein interaction databases

    BioGridi118780. 13 interactions.
    IntActiO60826. 1 interaction.
    STRINGi9606.ENSP00000365401.

    Structurei

    3D structure databases

    ProteinModelPortaliO60826.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili447 – 53589Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the CCDC22 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG253647.
    HOGENOMiHOG000039965.
    HOVERGENiHBG053063.
    InParanoidiO60826.
    OMAiECRQSEL.
    OrthoDBiEOG7QNVKR.
    PhylomeDBiO60826.
    TreeFamiTF325575.

    Family and domain databases

    InterProiIPR008530. DUF812.
    [Graphical view]
    PANTHERiPTHR15668. PTHR15668. 1 hit.
    PfamiPF05667. DUF812. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O60826-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEEADRILIH SLRQAGTAVP PDVQTLRAFT TELVVEAVVR CLRVINPAVG    50
    SGLSPLLPLA MSARFRLAMS LAQACMDLGY PLELGYQNFL YPSEPDLRDL 100
    LLFLAERLPT DASEDADQPA GDSAILLRAI GSQIRDQLAL PWVPPHLRTP 150
    KLQHLQGSAL QKPFHASRLV VPELSSRGEP REFQASPLLL PVPTQVPQPV 200
    GRVASLLEHH ALQLCQQTGR DRPGDEDWVH RTSRLPPQED TRAQRQRLQK 250
    QLTEHLRQSW GLLGAPIQAR DLGELLQAWG AGAKTGAPKG SRFTHSEKFT 300
    FHLEPQAQAT QVSDVPATSR RPEQVTWAAQ EQELESLREQ LEGVNRSIEE 350
    VEADMKTLGV SFVQAESECR HSKLSTAERE QALRLKSRAV ELLPDGTANL 400
    AKLQLVVENS AQRVIHLAGQ WEKHRVPLLA EYRHLRKLQD CRELESSRRL 450
    AEIQELHQSV RAAAEEARRK EEVYKQLMSE LETLPRDVSR LAYTQRILEI 500
    VGNIRKQKEE ITKILSDTKE LQKEINSLSG KLDRTFAVTD ELVFKDAKKD 550
    DAVRKAYKYL AALHENCSQL IQTIEDTGTI MREVRDLEEQ IETELGKKTL 600
    SNLEKIREDY RALRQENAGL LGRVREA 627
    Length:627
    Mass (Da):70,756
    Last modified:August 1, 1998 - v1
    Checksum:iC3704BBCD9EA0386
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti412 – 4121Q → R in BAF84665. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti17 – 171T → A Found in a family affected by mental retardation; may affect splicing and/or have a negative impact on transcription efficiency. 1 Publication
    VAR_065912

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ005890 mRNA. Translation: CAA06747.1.
    AK291976 mRNA. Translation: BAF84665.1.
    BC000972 mRNA. Translation: AAH00972.1.
    BC011675 mRNA. Translation: AAH11675.1.
    CCDSiCCDS14322.1.
    RefSeqiNP_054727.1. NM_014008.4.
    UniGeneiHs.26333.

    Genome annotation databases

    EnsembliENST00000376227; ENSP00000365401; ENSG00000101997.
    GeneIDi28952.
    KEGGihsa:28952.
    UCSCiuc004dnd.2. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ005890 mRNA. Translation: CAA06747.1 .
    AK291976 mRNA. Translation: BAF84665.1 .
    BC000972 mRNA. Translation: AAH00972.1 .
    BC011675 mRNA. Translation: AAH11675.1 .
    CCDSi CCDS14322.1.
    RefSeqi NP_054727.1. NM_014008.4.
    UniGenei Hs.26333.

    3D structure databases

    ProteinModelPortali O60826.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118780. 13 interactions.
    IntActi O60826. 1 interaction.
    STRINGi 9606.ENSP00000365401.

    PTM databases

    PhosphoSitei O60826.

    Proteomic databases

    MaxQBi O60826.
    PaxDbi O60826.
    PeptideAtlasi O60826.
    PRIDEi O60826.

    Protocols and materials databases

    DNASUi 28952.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000376227 ; ENSP00000365401 ; ENSG00000101997 .
    GeneIDi 28952.
    KEGGi hsa:28952.
    UCSCi uc004dnd.2. human.

    Organism-specific databases

    CTDi 28952.
    GeneCardsi GC0XP049092.
    HGNCi HGNC:28909. CCDC22.
    HPAi HPA000888.
    MIMi 300859. gene.
    neXtProti NX_O60826.
    PharmGKBi PA134947763.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG253647.
    HOGENOMi HOG000039965.
    HOVERGENi HBG053063.
    InParanoidi O60826.
    OMAi ECRQSEL.
    OrthoDBi EOG7QNVKR.
    PhylomeDBi O60826.
    TreeFami TF325575.

    Enzyme and pathway databases

    SignaLinki O60826.

    Miscellaneous databases

    GenomeRNAii 28952.
    NextBioi 51765.
    PROi O60826.
    SOURCEi Search...

    Gene expression databases

    Bgeei O60826.
    CleanExi HS_CCDC22.
    Genevestigatori O60826.

    Family and domain databases

    InterProi IPR008530. DUF812.
    [Graphical view ]
    PANTHERi PTHR15668. PTHR15668. 1 hit.
    Pfami PF05667. DUF812. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Transcription map in Xp11.23."
      Strom T.M., Nyakatura G., Hellebrand H., Drescher B., Rosenthal A., Meindl A.
      Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Peripheral blood leukocyte.
    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].
      Tissue: Small intestine.
    3. "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].
      Tissue: Pancreas and Placenta.
    4. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-410, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Platelet.
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. Cited for: VARIANT ALA-17, POSSIBLE INVOLVEMENT IN X-LINKED SYNDROMIC MENTAL RETARDATION, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiCCD22_HUMAN
    AccessioniPrimary (citable) accession number: O60826
    Secondary accession number(s): A8K7G1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 6, 2005
    Last sequence update: August 1, 1998
    Last modified: October 1, 2014
    This is version 103 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 X
      Human chromosome X: 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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3