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P57076

- CU059_HUMAN

UniProt

P57076 - CU059_HUMAN

Protein

UPF0769 protein C21orf59

Gene

C21orf59

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 1 (01 Dec 2000)
      Previous versions | rss
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    Functioni

    May play a role in motile cilia function, possibly by acting on dynein arm assembly.1 Publication

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    UPF0769 protein C21orf59
    Gene namesi
    Name:C21orf59
    Synonyms:C21orf48
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 21

    Organism-specific databases

    HGNCiHGNC:1301. C21orf59.

    Subcellular locationi

    Cytoplasm By similarity
    Note: Partially colocalized with SASS6 in cytoplasmic puncta, suggesting a centrosomal localization.By similarity

    GO - Cellular componenti

    1. cytosol Source: UniProtKB
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Ciliary dyskinesia, primary, 26 (CILD26) [MIM:615500]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry. Cilia in nasal epithelia show the absence of both outer and inner dynein-arm components and complete paralysis.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti33 – 331R → W in a patient with CILD26; unknown pathological significance; may be either hypomorphic or not causative of CILD26. 1 Publication
    VAR_070200
    Natural varianti141 – 1411D → G in a patient with CILD26; unknown pathological significance; may be either hypomorphic or not causative of CILD26. 1 Publication
    VAR_070201
    Natural varianti173 – 1731D → Y in a patient with CILD26; unknown pathological significance; may be either hypomorphic or not causative of CILD26. 1 Publication
    VAR_070202

    Keywords - Diseasei

    Ciliopathy, Primary ciliary dyskinesia

    Organism-specific databases

    MIMi615500. phenotype.
    Orphaneti244. Primary ciliary dyskinesia.
    PharmGKBiPA25854.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 290290UPF0769 protein C21orf59PRO_0000079523Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Cross-linki210 – 210Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
    Modified residuei264 – 2641Phosphotyrosine1 Publication

    Keywords - PTMi

    Isopeptide bond, Phosphoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiP57076.
    PaxDbiP57076.
    PRIDEiP57076.

    PTM databases

    PhosphoSiteiP57076.

    Expressioni

    Gene expression databases

    ArrayExpressiP57076.
    BgeeiP57076.
    CleanExiHS_C21orf59.
    GenevestigatoriP57076.

    Organism-specific databases

    HPAiCAB034170.
    HPA018453.
    HPA019055.
    HPA028849.

    Interactioni

    Protein-protein interaction databases

    BioGridi121187. 6 interactions.
    IntActiP57076. 1 interaction.
    MINTiMINT-7004944.
    STRINGi9606.ENSP00000290155.

    Structurei

    3D structure databases

    ProteinModelPortaliP57076.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the UPF0769 family.Curated

    Phylogenomic databases

    eggNOGiNOG74285.
    HOGENOMiHOG000282965.
    HOVERGENiHBG051236.
    InParanoidiP57076.
    OMAiWDPARIL.
    PhylomeDBiP57076.
    TreeFamiTF323482.

    Family and domain databases

    InterProiIPR021298. DUF2870.
    [Graphical view]
    PfamiPF11069. DUF2870. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P57076-1 [UniParc]FASTAAdd to Basket

    « Hide

    MVLLHVKRGD ESQFLLQAPG STELEELTVQ VARVYNGRLK VQRLCSEMEE    50
    LAEHGIFLPP NMQGLTDDQI EELKLKDEWG EKCVPSGGAV FKKDDIGRRN 100
    GQAPNEKMKQ VLKKTIEEAK AIISKKQVEA GVCVTMEMVK DALDQLRGAV 150
    MIVYPMGLPP YDPIRMEFEN KEDLSGTQAG LNVIKEAEAQ LWWAAKELRR 200
    TKKLSDYVGK NEKTKIIAKI QQRGQGAPAR EPIISSEEQK QLMLYYHRRQ 250
    EELKRLEEND DDAYLNSPWA DNTALKRHFH GVKDIKWRPR 290
    Length:290
    Mass (Da):33,224
    Last modified:December 1, 2000 - v1
    Checksum:i4C56A8C989B108DD
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti176 – 1761G → E in BAD97038. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti33 – 331R → W in a patient with CILD26; unknown pathological significance; may be either hypomorphic or not causative of CILD26. 1 Publication
    VAR_070200
    Natural varianti141 – 1411D → G in a patient with CILD26; unknown pathological significance; may be either hypomorphic or not causative of CILD26. 1 Publication
    VAR_070201
    Natural varianti173 – 1731D → Y in a patient with CILD26; unknown pathological significance; may be either hypomorphic or not causative of CILD26. 1 Publication
    VAR_070202

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF282851 mRNA. Translation: AAG00496.1.
    AK223318 mRNA. Translation: BAD97038.1.
    AP000275 Genomic DNA. No translation available.
    BC000709 mRNA. Translation: AAH00709.1.
    CCDSiCCDS13617.1.
    RefSeqiNP_067077.1. NM_021254.2.
    UniGeneiHs.5811.

    Genome annotation databases

    EnsembliENST00000290155; ENSP00000290155; ENSG00000159079.
    GeneIDi56683.
    KEGGihsa:56683.
    UCSCiuc002yqc.3. human.

    Polymorphism databases

    DMDMi10719917.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF282851 mRNA. Translation: AAG00496.1 .
    AK223318 mRNA. Translation: BAD97038.1 .
    AP000275 Genomic DNA. No translation available.
    BC000709 mRNA. Translation: AAH00709.1 .
    CCDSi CCDS13617.1.
    RefSeqi NP_067077.1. NM_021254.2.
    UniGenei Hs.5811.

    3D structure databases

    ProteinModelPortali P57076.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121187. 6 interactions.
    IntActi P57076. 1 interaction.
    MINTi MINT-7004944.
    STRINGi 9606.ENSP00000290155.

    PTM databases

    PhosphoSitei P57076.

    Polymorphism databases

    DMDMi 10719917.

    Proteomic databases

    MaxQBi P57076.
    PaxDbi P57076.
    PRIDEi P57076.

    Protocols and materials databases

    DNASUi 56683.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000290155 ; ENSP00000290155 ; ENSG00000159079 .
    GeneIDi 56683.
    KEGGi hsa:56683.
    UCSCi uc002yqc.3. human.

    Organism-specific databases

    CTDi 56683.
    GeneCardsi GC21M033951.
    H-InvDB HIX0016064.
    HGNCi HGNC:1301. C21orf59.
    HPAi CAB034170.
    HPA018453.
    HPA019055.
    HPA028849.
    MIMi 615494. gene.
    615500. phenotype.
    neXtProti NX_P57076.
    Orphaneti 244. Primary ciliary dyskinesia.
    PharmGKBi PA25854.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG74285.
    HOGENOMi HOG000282965.
    HOVERGENi HBG051236.
    InParanoidi P57076.
    OMAi WDPARIL.
    PhylomeDBi P57076.
    TreeFami TF323482.

    Miscellaneous databases

    ChiTaRSi C21orf59. human.
    GeneWikii C21orf59.
    GenomeRNAii 56683.
    NextBioi 62191.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P57076.
    Bgeei P57076.
    CleanExi HS_C21orf59.
    Genevestigatori P57076.

    Family and domain databases

    InterProi IPR021298. DUF2870.
    [Graphical view ]
    Pfami PF11069. DUF2870. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Lutfalla G.
      Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Thymus.
    3. "The DNA sequence of human chromosome 21."
      Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A.
      , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
      Nature 405:311-319(2000) [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: Placenta.
    5. "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells."
      Rush J., Moritz A., Lee K.A., Guo A., Goss V.L., Spek E.J., Zhang H., Zha X.-M., Polakiewicz R.D., Comb M.J.
      Nat. Biotechnol. 23:94-101(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-264, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. "Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry."
      Denis N.J., Vasilescu J., Lambert J.-P., Smith J.C., Figeys D.
      Proteomics 7:868-874(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-210.
      Tissue: Mammary cancer.
    7. Cited for: FUNCTION, INVOLVEMENT IN CILD26, VARIANTS TRP-33; GLY-141 AND TYR-173.

    Entry informationi

    Entry nameiCU059_HUMAN
    AccessioniPrimary (citable) accession number: P57076
    Secondary accession number(s): Q53FH0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: December 1, 2000
    Last modified: October 1, 2014
    This is version 95 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 21
      Human chromosome 21: 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
    6. Uncharacterized protein families (UPF)
      List of uncharacterized protein family (UPF) entries

    External Data

    Dasty 3