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Q15327

- ANKR1_HUMAN

UniProt

Q15327 - ANKR1_HUMAN

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Protein
Ankyrin repeat domain-containing protein 1
Gene
ANKRD1, C193, CARP, HA1A2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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

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 DNA damage response, signal transduction by p53 class mediator Source: BHF-UCL
  14. positive regulation of apoptotic process 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
Complete GO annotation...

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

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.
Note: The disease may be caused by mutations affecting the gene represented in this entry.1 Publication
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 1
PRO_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.1 Publication

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliQ15327.
SMRiQ15327. Positions 92-314.

Family & Domainsi

Domains and Repeats

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

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili61 – 8929 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Contains 5 ANK repeats.

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

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti71 – 711K → P in CAA58676. 1 Publication

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...

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 107 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

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