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Q15327

- ANKR1_HUMAN

UniProt

Q15327 - ANKR1_HUMAN

Protein

Ankyrin repeat domain-containing protein 1

Gene

ANKRD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 2 (27 Jun 2006)
      Previous versions | rss
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    Functioni

    May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells.2 Publications

    GO - Molecular functioni

    1. DNA binding Source: BHF-UCL
    2. histone deacetylase binding Source: BHF-UCL
    3. p53 binding Source: BHF-UCL
    4. protein binding Source: BHF-UCL
    5. RNA polymerase II transcription coactivator activity Source: BHF-UCL
    6. RNA polymerase II transcription factor binding Source: BHF-UCL
    7. R-SMAD binding Source: BHF-UCL
    8. titin binding Source: BHF-UCL
    9. transcription corepressor activity Source: BHF-UCL

    GO - Biological processi

    1. cardiac muscle tissue morphogenesis Source: BHF-UCL
    2. cellular lipid metabolic process Source: Reactome
    3. cellular response to drug Source: Ensembl
    4. cellular response to hypoxia Source: Ensembl
    5. cellular response to interleukin-1 Source: BHF-UCL
    6. cellular response to lipopolysaccharide Source: BHF-UCL
    7. cellular response to mechanical stimulus Source: UniProtKB
    8. cellular response to organic cyclic compound Source: Ensembl
    9. cellular response to transforming growth factor beta stimulus Source: BHF-UCL
    10. cellular response to tumor necrosis factor Source: BHF-UCL
    11. negative regulation of DNA biosynthetic process Source: BHF-UCL
    12. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    13. positive regulation of apoptotic process Source: BHF-UCL
    14. positive regulation of DNA damage response, signal transduction by p53 class mediator Source: BHF-UCL
    15. positive regulation of neuron projection development Source: Ensembl
    16. positive regulation of protein secretion Source: UniProtKB
    17. positive regulation of transcription from RNA polymerase II promoter Source: GOC
    18. response to muscle stretch Source: BHF-UCL
    19. sarcomere organization Source: BHF-UCL
    20. skeletal muscle cell differentiation Source: Ensembl
    21. small molecule metabolic process Source: Reactome

    Enzyme and pathway databases

    ReactomeiREACT_116145. PPARA activates gene expression.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ankyrin repeat domain-containing protein 1
    Alternative name(s):
    Cardiac ankyrin repeat protein
    Cytokine-inducible gene C-193 protein
    Cytokine-inducible nuclear protein
    Gene namesi
    Name:ANKRD1
    Synonyms:C193, CARP, HA1A2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:15819. ANKRD1.

    Subcellular locationi

    Nucleus 2 Publications

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. cytosol Source: BHF-UCL
    3. I band Source: BHF-UCL
    4. nucleoplasm Source: Reactome
    5. nucleus Source: BHF-UCL
    6. transcription factor complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Total anomalous pulmonary venous return (TAPVR) [MIM:106700]: Rare congenital heart disease (CHD) in which the pulmonary veins fail to connect to the left atrium during cardiac development, draining instead into either the right atrium or one of its venous tributaries. This disease accounts for 1.5% of all CHDs and has a prevalence of approximately 1 out of 15'000 live births.1 Publication
    Note: The disease may be caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti116 – 1161T → M in TAPVR. 1 Publication
    Corresponds to variant rs142354133 [ dbSNP | Ensembl ].
    VAR_047112

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi106700. phenotype.
    PharmGKBiPA134882768.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 319319Ankyrin repeat domain-containing protein 1PRO_0000240479Add
    BLAST

    Proteomic databases

    MaxQBiQ15327.
    PaxDbiQ15327.
    PRIDEiQ15327.

    PTM databases

    PhosphoSiteiQ15327.

    Expressioni

    Tissue specificityi

    Mainly expressed in activated vascular endothelial cells. To a lower extent, also expressed in hepatoma cells.2 Publications

    Inductioni

    By TNF, IL1A/interleukin-1 alpha and parthenolide.2 Publications

    Gene expression databases

    BgeeiQ15327.
    CleanExiHS_ANKRD1.
    GenevestigatoriQ15327.

    Organism-specific databases

    HPAiHPA038736.

    Interactioni

    Subunit structurei

    Interacts with YBX1 By similarity. Interacts with TTN/titin.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi117975. 3 interactions.
    IntActiQ15327. 13 interactions.
    STRINGi9606.ENSP00000360762.

    Structurei

    3D structure databases

    ProteinModelPortaliQ15327.
    SMRiQ15327. Positions 92-314.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati152 – 18130ANK 1Add
    BLAST
    Repeati185 – 21430ANK 2Add
    BLAST
    Repeati218 – 24730ANK 3Add
    BLAST
    Repeati251 – 28030ANK 4Add
    BLAST
    Repeati284 – 31532ANK 5Add
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili61 – 8929Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Contains 5 ANK repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    ANK repeat, Coiled coil, Repeat

    Phylogenomic databases

    eggNOGiCOG0666.
    HOGENOMiHOG000236321.
    HOVERGENiHBG071561.
    InParanoidiQ15327.
    OMAiEGDTPMH.
    OrthoDBiEOG7FJH17.
    PhylomeDBiQ15327.
    TreeFamiTF331650.

    Family and domain databases

    Gene3Di1.25.40.20. 2 hits.
    InterProiIPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    [Graphical view]
    PfamiPF12796. Ank_2. 2 hits.
    [Graphical view]
    PRINTSiPR01415. ANKYRIN.
    SMARTiSM00248. ANK. 4 hits.
    [Graphical view]
    SUPFAMiSSF48403. SSF48403. 1 hit.
    PROSITEiPS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 4 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q15327-1 [UniParc]FASTAAdd to Basket

    « Hide

    MMVLKVEELV TGKKNGNGEA GEFLPEDFRD GEYEAAVTLE KQEDLKTLLA    50
    HPVTLGEQQW KSEKQREAEL KKKKLEQRSK LENLEDLEII IQLKKRKKYR 100
    KTKVPVVKEP EPEIITEPVD VPTFLKAALE NKLPVVEKFL SDKNNPDVCD 150
    EYKRTALHRA CLEGHLAIVE KLMEAGAQIE FRDMLESTAI HWASRGGNLD 200
    VLKLLLNKGA KISARDKLLS TALHVAVRTG HYECAEHLIA CEADLNAKDR 250
    EGDTPLHDAV RLNRYKMIRL LIMYGADLNI KNCAGKTPMD LVLHWQNGTK 300
    AIFDSLRENS YKTSRIATF 319
    Length:319
    Mass (Da):36,252
    Last modified:June 27, 2006 - v2
    Checksum:i9AD91D2B1344A235
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti71 – 711K → P in CAA58676. (PubMed:7730328)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti116 – 1161T → M in TAPVR. 1 Publication
    Corresponds to variant rs142354133 [ dbSNP | Ensembl ].
    VAR_047112

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X83703 mRNA. Translation: CAA58676.1.
    AY903446 mRNA. Translation: AAX23581.1.
    AL590622 Genomic DNA. Translation: CAC70101.1.
    BC018667 mRNA. Translation: AAH18667.1.
    CCDSiCCDS7412.1.
    PIRiA57291.
    RefSeqiNP_055206.2. NM_014391.2.
    UniGeneiHs.448589.

    Genome annotation databases

    EnsembliENST00000371697; ENSP00000360762; ENSG00000148677.
    GeneIDi27063.
    KEGGihsa:27063.
    UCSCiuc001khe.1. human.

    Polymorphism databases

    DMDMi109940213.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X83703 mRNA. Translation: CAA58676.1 .
    AY903446 mRNA. Translation: AAX23581.1 .
    AL590622 Genomic DNA. Translation: CAC70101.1 .
    BC018667 mRNA. Translation: AAH18667.1 .
    CCDSi CCDS7412.1.
    PIRi A57291.
    RefSeqi NP_055206.2. NM_014391.2.
    UniGenei Hs.448589.

    3D structure databases

    ProteinModelPortali Q15327.
    SMRi Q15327. Positions 92-314.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117975. 3 interactions.
    IntActi Q15327. 13 interactions.
    STRINGi 9606.ENSP00000360762.

    PTM databases

    PhosphoSitei Q15327.

    Polymorphism databases

    DMDMi 109940213.

    Proteomic databases

    MaxQBi Q15327.
    PaxDbi Q15327.
    PRIDEi Q15327.

    Protocols and materials databases

    DNASUi 27063.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000371697 ; ENSP00000360762 ; ENSG00000148677 .
    GeneIDi 27063.
    KEGGi hsa:27063.
    UCSCi uc001khe.1. human.

    Organism-specific databases

    CTDi 27063.
    GeneCardsi GC10M092661.
    GeneReviewsi ANKRD1.
    HGNCi HGNC:15819. ANKRD1.
    HPAi HPA038736.
    MIMi 106700. phenotype.
    609599. gene.
    neXtProti NX_Q15327.
    PharmGKBi PA134882768.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0666.
    HOGENOMi HOG000236321.
    HOVERGENi HBG071561.
    InParanoidi Q15327.
    OMAi EGDTPMH.
    OrthoDBi EOG7FJH17.
    PhylomeDBi Q15327.
    TreeFami TF331650.

    Enzyme and pathway databases

    Reactomei REACT_116145. PPARA activates gene expression.

    Miscellaneous databases

    ChiTaRSi ANKRD1. human.
    GeneWikii ANKRD1.
    GenomeRNAii 27063.
    NextBioi 49630.
    PROi Q15327.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q15327.
    CleanExi HS_ANKRD1.
    Genevestigatori Q15327.

    Family and domain databases

    Gene3Di 1.25.40.20. 2 hits.
    InterProi IPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    [Graphical view ]
    Pfami PF12796. Ank_2. 2 hits.
    [Graphical view ]
    PRINTSi PR01415. ANKYRIN.
    SMARTi SM00248. ANK. 4 hits.
    [Graphical view ]
    SUPFAMi SSF48403. SSF48403. 1 hit.
    PROSITEi PS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification and characterization of a novel cytokine-inducible nuclear protein from human endothelial cells."
      Chu W., Burns D.K., Swerlick R.A., Presky D.H.
      J. Biol. Chem. 270:10236-10245(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], INDUCTION BY TNF AND IL1A, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, FUNCTION.
      Tissue: Skin.
    2. "Identification of the genes involved in enhanced fenretinide-induced apoptosis by parthenolide in human hepatoma cells."
      Park J.-H., Liu L., Kim I.-H., Kim J.-H., You K.-R., Kim D.-G.
      Cancer Res. 65:2804-2814(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], INDUCTION BY PARTHELONIDE, FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
    3. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [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: Skeletal muscle.
    5. "The muscle ankyrin repeat proteins: CARP, ankrd2/Arpp and DARP as a family of titin filament-based stress response molecules."
      Miller M.K., Bang M.-L., Witt C.C., Labeit D., Trombitas C., Watanabe K., Granzier H., McElhinny A.S., Gregorio C.C., Labeit S.
      J. Mol. Biol. 333:951-964(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TTN.
    6. "Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return."
      Cinquetti R., Badi I., Campione M., Bortoletto E., Chiesa G., Parolini C., Camesasca C., Russo A., Taramelli R., Acquati F.
      Hum. Mutat. 29:468-474(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT TAPVR MET-116.

    Entry informationi

    Entry nameiANKR1_HUMAN
    AccessioniPrimary (citable) accession number: Q15327
    Secondary accession number(s): Q96LE7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 27, 2006
    Last sequence update: June 27, 2006
    Last modified: October 1, 2014
    This is version 108 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 10
      Human chromosome 10: 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