Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q15327 (ANKR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:ANKRD1
Synonyms:C193, CARP, HA1A2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length319 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1 Ref.2

Subunit structure

Interacts with YBX1 By similarity. Interacts with TTN/titin. Ref.5

Subcellular location

Nucleus Ref.1 Ref.2.

Tissue specificity

Mainly expressed in activated vascular endothelial cells. To a lower extent, also expressed in hepatoma cells. Ref.1 Ref.2

Induction

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

Involvement in disease

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. Ref.6

Sequence similarities

Contains 5 ANK repeats.

Ontologies

Keywords
   Cellular componentNucleus
   DiseaseDisease mutation
   DomainANK repeat
Coiled coil
Repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcardiac muscle tissue morphogenesis

Inferred from mutant phenotype PubMed 19525294PubMed 19608030. Source: BHF-UCL

cellular lipid metabolic process

Traceable author statement. Source: Reactome

cellular response to drug

Inferred from electronic annotation. Source: Ensembl

cellular response to hypoxia

Inferred from electronic annotation. Source: Ensembl

cellular response to interleukin-1

Inferred from direct assay Ref.1. Source: BHF-UCL

cellular response to lipopolysaccharide

Inferred from direct assay Ref.1. Source: BHF-UCL

cellular response to mechanical stimulus

Inferred from direct assay PubMed 17239933. Source: UniProtKB

cellular response to organic cyclic compound

Inferred from electronic annotation. Source: Ensembl

cellular response to transforming growth factor beta stimulus

Inferred from direct assay PubMed 11139470. Source: BHF-UCL

cellular response to tumor necrosis factor

Inferred from direct assay Ref.1. Source: BHF-UCL

negative regulation of DNA biosynthetic process

Inferred from mutant phenotype PubMed 11139470. Source: BHF-UCL

negative regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

positive regulation of DNA damage response, signal transduction by p53 class mediator

Inferred from direct assay PubMed 20599664. Source: BHF-UCL

positive regulation of apoptotic process

Inferred from mutant phenotype Ref.2. Source: BHF-UCL

positive regulation of neuron projection development

Inferred from electronic annotation. Source: Ensembl

positive regulation of protein secretion

Inferred from mutant phenotype PubMed 17239933. Source: UniProtKB

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 20599664. Source: GOC

response to muscle stretch

Inferred from mutant phenotype PubMed 19608030. Source: BHF-UCL

sarcomere organization

Non-traceable author statement PubMed 11309420. Source: BHF-UCL

skeletal muscle cell differentiation

Inferred from electronic annotation. Source: Ensembl

small molecule metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentI band

Inferred from sequence or structural similarity PubMed 19525294. Source: BHF-UCL

cytoplasm

Inferred from direct assay PubMed 17239933. Source: UniProtKB

cytosol

Inferred from direct assay PubMed 19608030. Source: BHF-UCL

nucleoplasm

Traceable author statement. Source: Reactome

nucleus

Inferred from direct assay PubMed 12054667PubMed 19608030Ref.1. Source: BHF-UCL

transcription factor complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionDNA binding

Inferred from direct assay Ref.1. Source: BHF-UCL

R-SMAD binding

Inferred from physical interaction PubMed 20599664. Source: BHF-UCL

RNA polymerase II transcription coactivator activity

Inferred from direct assay PubMed 20599664. Source: BHF-UCL

RNA polymerase II transcription factor binding

Inferred from physical interaction PubMed 20599664. Source: BHF-UCL

histone deacetylase binding

Inferred from physical interaction PubMed 20599664. Source: BHF-UCL

p53 binding

Inferred from physical interaction PubMed 20599664. Source: BHF-UCL

titin binding

Inferred from physical interaction Ref.5. Source: BHF-UCL

transcription corepressor activity

Traceable author statement PubMed 20599664. Source: BHF-UCL

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 319319Ankyrin repeat domain-containing protein 1
PRO_0000240479

Regions

Repeat152 – 18130ANK 1
Repeat185 – 21430ANK 2
Repeat218 – 24730ANK 3
Repeat251 – 28030ANK 4
Repeat284 – 31532ANK 5
Coiled coil61 – 8929 Potential

Natural variations

Natural variant1161T → M in TAPVR. Ref.6
Corresponds to variant rs142354133 [ dbSNP | Ensembl ].
VAR_047112

Experimental info

Sequence conflict711K → P in CAA58676. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q15327 [UniParc].

Last modified June 27, 2006. Version 2.
Checksum: 9AD91D2B1344A235

FASTA31936,252
        10         20         30         40         50         60 
MMVLKVEELV TGKKNGNGEA GEFLPEDFRD GEYEAAVTLE KQEDLKTLLA HPVTLGEQQW 

        70         80         90        100        110        120 
KSEKQREAEL KKKKLEQRSK LENLEDLEII IQLKKRKKYR KTKVPVVKEP EPEIITEPVD 

       130        140        150        160        170        180 
VPTFLKAALE NKLPVVEKFL SDKNNPDVCD EYKRTALHRA CLEGHLAIVE KLMEAGAQIE 

       190        200        210        220        230        240 
FRDMLESTAI HWASRGGNLD VLKLLLNKGA KISARDKLLS TALHVAVRTG HYECAEHLIA 

       250        260        270        280        290        300 
CEADLNAKDR EGDTPLHDAV RLNRYKMIRL LIMYGADLNI KNCAGKTPMD LVLHWQNGTK 

       310 
AIFDSLRENS YKTSRIATF 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X83703 mRNA. Translation: CAA58676.1.
AY903446 mRNA. Translation: AAX23581.1.
AL590622 Genomic DNA. Translation: CAC70101.1.
BC018667 mRNA. Translation: AAH18667.1.
PIRA57291.
RefSeqNP_055206.2. NM_014391.2.
UniGeneHs.448589.

3D structure databases

ProteinModelPortalQ15327.
SMRQ15327. Positions 107-307.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117975. 3 interactions.
IntActQ15327. 13 interactions.
STRING9606.ENSP00000360762.

PTM databases

PhosphoSiteQ15327.

Polymorphism databases

DMDM109940213.

Proteomic databases

PaxDbQ15327.
PRIDEQ15327.

Protocols and materials databases

DNASU27063.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000371697; ENSP00000360762; ENSG00000148677.
GeneID27063.
KEGGhsa:27063.
UCSCuc001khe.1. human.

Organism-specific databases

CTD27063.
GeneCardsGC10M092661.
HGNCHGNC:15819. ANKRD1.
HPAHPA038736.
MIM106700. phenotype.
609599. gene.
neXtProtNX_Q15327.
PharmGKBPA134882768.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0666.
HOGENOMHOG000236321.
HOVERGENHBG071561.
InParanoidQ15327.
OMAEGDTPMH.
OrthoDBEOG7FJH17.
PhylomeDBQ15327.
TreeFamTF331650.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

BgeeQ15327.
CleanExHS_ANKRD1.
GenevestigatorQ15327.

Family and domain databases

Gene3D1.25.40.20. 2 hits.
InterProIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
[Graphical view]
PfamPF12796. Ank_2. 2 hits.
[Graphical view]
PRINTSPR01415. ANKYRIN.
SMARTSM00248. ANK. 4 hits.
[Graphical view]
SUPFAMSSF48403. SSF48403. 1 hit.
PROSITEPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSANKRD1. human.
GeneWikiANKRD1.
GenomeRNAi27063.
NextBio49630.
PROQ15327.
SOURCESearch...

Entry information

Entry nameANKR1_HUMAN
AccessionPrimary (citable) accession number: Q15327
Secondary accession number(s): Q96LE7
Entry history
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: June 27, 2006
Last modified: April 16, 2014
This is version 103 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM