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Q96LK0

- CEP19_HUMAN

UniProt

Q96LK0 - CEP19_HUMAN

Protein

Centrosomal protein of 19 kDa

Gene

CEP19

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
  1. Names & Taxonomyi

    Protein namesi
    Recommended name:
    Centrosomal protein of 19 kDa
    Short name:
    Cep19
    Gene namesi
    Name:CEP19
    Synonyms:C3orf34
    ORF Names:HSD5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:28209. CEP19.

    Subcellular locationi

    Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole. Cytoplasmcytoskeletonspindle pole. Cytoplasmcytoskeletoncilium basal body
    Note: Associates with the mother centriole in early interphase. Localizes to spindle poles during mitosis, and to distinct foci oriented towards the midbody at telophase.

    GO - Cellular componenti

    1. centriole Source: UniProtKB
    2. ciliary basal body Source: UniProtKB
    3. spindle pole Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Morbid obesity and spermatogenic failure (MOSPGF) [MIM:615703]: An autosomal recessive morbid obesity syndrome characterized by hypertension, fatty liver disease, insulin resistance, and decreased sperm counts. Variable clinical manifestations are early coronary artery disease with myocardial infarction before 45 years of age, type II diabetes mellitus, and intellectual disability. Morbid obese individuals are defined as having a BMI greater than 40.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Obesity

    Organism-specific databases

    MIMi615703. phenotype.
    PharmGKBiPA142672395.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 163163Centrosomal protein of 19 kDaPRO_0000251960Add
    BLAST

    Proteomic databases

    PaxDbiQ96LK0.
    PRIDEiQ96LK0.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96LK0.
    BgeeiQ96LK0.
    CleanExiHS_C3orf34.
    GenevestigatoriQ96LK0.

    Organism-specific databases

    HPAiHPA047614.

    Interactioni

    Protein-protein interaction databases

    BioGridi124410. 5 interactions.
    IntActiQ96LK0. 4 interactions.
    MINTiMINT-1481099.
    STRINGi9606.ENSP00000387209.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96LK0.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the CEP19 family.Curated

    Phylogenomic databases

    eggNOGiNOG41287.
    HOVERGENiHBG081009.
    InParanoidiQ96LK0.
    KOiK16801.
    PhylomeDBiQ96LK0.
    TreeFamiTF328425.

    Family and domain databases

    InterProiIPR029412. CEP19.
    [Graphical view]
    PANTHERiPTHR31539. PTHR31539. 1 hit.
    PfamiPF14933. CEP19. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q96LK0-1 [UniParc]FASTAAdd to Basket

    « Hide

    MMCTAKKCGI RFQPPAIILI YESEIKGKIR QRIMPVRNFS KFSDCTRAAE    50
    QLKNNPRHKS YLEQVSLRQL EKLFSFLRGY LSGQSLAETM EQIQRETTID 100
    PEEDLNKLDD KELAKRKSIM DELFEKNQKK KDDPNFVYDI EVEFPQDDQL 150
    QSCGWDTESA DEF 163
    Length:163
    Mass (Da):19,166
    Last modified:October 3, 2006 - v2
    Checksum:iD5F65C3C0A1B1AD7
    GO

    Sequence cautioni

    The sequence AAM47487.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence BAB71691.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY099509 mRNA. Translation: AAM47487.1. Different initiation.
    AK058155 mRNA. Translation: BAB71691.1. Different initiation.
    AK314070 mRNA. Translation: BAG36771.1.
    AC055725 Genomic DNA. No translation available.
    BC007827 mRNA. Translation: AAH07827.1.
    RefSeqiNP_116287.2. NM_032898.4.
    XP_005269427.1. XM_005269370.2.
    UniGeneiHs.282800.

    Genome annotation databases

    EnsembliENST00000409690; ENSP00000387209; ENSG00000174007.
    GeneIDi84984.
    KEGGihsa:84984.
    UCSCiuc011btw.2. human.

    Polymorphism databases

    DMDMi115503728.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY099509 mRNA. Translation: AAM47487.1 . Different initiation.
    AK058155 mRNA. Translation: BAB71691.1 . Different initiation.
    AK314070 mRNA. Translation: BAG36771.1 .
    AC055725 Genomic DNA. No translation available.
    BC007827 mRNA. Translation: AAH07827.1 .
    RefSeqi NP_116287.2. NM_032898.4.
    XP_005269427.1. XM_005269370.2.
    UniGenei Hs.282800.

    3D structure databases

    ProteinModelPortali Q96LK0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124410. 5 interactions.
    IntActi Q96LK0. 4 interactions.
    MINTi MINT-1481099.
    STRINGi 9606.ENSP00000387209.

    Polymorphism databases

    DMDMi 115503728.

    Proteomic databases

    PaxDbi Q96LK0.
    PRIDEi Q96LK0.

    Protocols and materials databases

    DNASUi 84984.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000409690 ; ENSP00000387209 ; ENSG00000174007 .
    GeneIDi 84984.
    KEGGi hsa:84984.
    UCSCi uc011btw.2. human.

    Organism-specific databases

    CTDi 84984.
    GeneCardsi GC03M196434.
    H-InvDB HIX0003974.
    HGNCi HGNC:28209. CEP19.
    HPAi HPA047614.
    MIMi 615586. gene.
    615703. phenotype.
    neXtProti NX_Q96LK0.
    PharmGKBi PA142672395.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41287.
    HOVERGENi HBG081009.
    InParanoidi Q96LK0.
    KOi K16801.
    PhylomeDBi Q96LK0.
    TreeFami TF328425.

    Miscellaneous databases

    GenomeRNAii 84984.
    NextBioi 75548.
    PROi Q96LK0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96LK0.
    Bgeei Q96LK0.
    CleanExi HS_C3orf34.
    Genevestigatori Q96LK0.

    Family and domain databases

    InterProi IPR029412. CEP19.
    [Graphical view ]
    PANTHERi PTHR31539. PTHR31539. 1 hit.
    Pfami PF14933. CEP19. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A new spermatogenesis-related gene."
      Wang L.F., Zhang X.D., Miao S.Y., Gou D., Wang Y.
      Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Testis.
    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: Brain and Testis.
    3. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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: Lung.
    5. "Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods."
      Jakobsen L., Vanselow K., Skogs M., Toyoda Y., Lundberg E., Poser I., Falkenby L.G., Bennetzen M., Westendorf J., Nigg E.A., Uhlen M., Hyman A.A., Andersen J.S.
      EMBO J. 30:1520-1535(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION.
    6. Cited for: INVOLVEMENT IN MOSPGF, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiCEP19_HUMAN
    AccessioniPrimary (citable) accession number: Q96LK0
    Secondary accession number(s): B2RA74, Q96I48
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 3, 2006
    Last sequence update: October 3, 2006
    Last modified: October 1, 2014
    This is version 78 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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families
    4. Uncharacterized protein families (UPF)
      List of uncharacterized protein family (UPF) entries

    External Data

    Dasty 3