ANKR1_HUMAN
ID ANKR1_HUMAN Reviewed; 319 AA.
AC Q15327; Q96LE7;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 27-JUN-2006, sequence version 2.
DT 03-AUG-2022, entry version 164.
DE RecName: Full=Ankyrin repeat domain-containing protein 1;
DE AltName: Full=Cardiac ankyrin repeat protein;
DE AltName: Full=Cytokine-inducible gene C-193 protein;
DE AltName: Full=Cytokine-inducible nuclear protein;
GN Name=ANKRD1; Synonyms=C193, CARP, HA1A2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], INDUCTION BY TNF AND IL1A, TISSUE SPECIFICITY,
RP SUBCELLULAR LOCATION, AND FUNCTION.
RC TISSUE=Skin;
RX PubMed=7730328; DOI=10.1074/jbc.270.17.10236;
RA Chu W., Burns D.K., Swerlick R.A., Presky D.H.;
RT "Identification and characterization of a novel cytokine-inducible nuclear
RT protein from human endothelial cells.";
RL J. Biol. Chem. 270:10236-10245(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], INDUCTION BY PARTHELONIDE, FUNCTION, TISSUE
RP SPECIFICITY, AND SUBCELLULAR LOCATION.
RX PubMed=15805281; DOI=10.1158/0008-5472.can-04-2221;
RA Park J.-H., Liu L., Kim I.-H., Kim J.-H., You K.-R., Kim D.-G.;
RT "Identification of the genes involved in enhanced fenretinide-induced
RT apoptosis by parthenolide in human hepatoma cells.";
RL Cancer Res. 65:2804-2814(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skeletal muscle;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP INTERACTION WITH TTN.
RX PubMed=14583192; DOI=10.1016/j.jmb.2003.09.012;
RA Miller M.K., Bang M.-L., Witt C.C., Labeit D., Trombitas C., Watanabe K.,
RA Granzier H., McElhinny A.S., Gregorio C.C., Labeit S.;
RT "The muscle ankyrin repeat proteins: CARP, ankrd2/Arpp and DARP as a family
RT of titin filament-based stress response molecules.";
RL J. Mol. Biol. 333:951-964(2003).
RN [6]
RP VARIANT MET-116.
RX PubMed=18273862; DOI=10.1002/humu.20711;
RA Cinquetti R., Badi I., Campione M., Bortoletto E., Chiesa G., Parolini C.,
RA Camesasca C., Russo A., Taramelli R., Acquati F.;
RT "Transcriptional deregulation and a missense mutation define ANKRD1 as a
RT candidate gene for total anomalous pulmonary venous return.";
RL Hum. Mutat. 29:468-474(2008).
CC -!- FUNCTION: May play an important role in endothelial cell activation.
CC May act as a nuclear transcription factor that negatively regulates the
CC expression of cardiac genes. Induction seems to be correlated with
CC apoptotic cell death in hepatoma cells. {ECO:0000269|PubMed:15805281,
CC ECO:0000269|PubMed:7730328}.
CC -!- SUBUNIT: Interacts with YBX1 (By similarity). Interacts with TTN/titin.
CC {ECO:0000250, ECO:0000269|PubMed:14583192}.
CC -!- INTERACTION:
CC Q15327; Q96GN5: CDCA7L; NbExp=3; IntAct=EBI-5653378, EBI-5278764;
CC Q15327; Q9UPY8: MAPRE3; NbExp=5; IntAct=EBI-5653378, EBI-726739;
CC Q15327; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-5653378, EBI-16439278;
CC Q15327; Q9UJ70-2: NAGK; NbExp=3; IntAct=EBI-5653378, EBI-11526455;
CC Q15327; Q5MJ10: SPANXN2; NbExp=3; IntAct=EBI-5653378, EBI-12023934;
CC Q15327; Q9NWS9-2: ZNF446; NbExp=6; IntAct=EBI-5653378, EBI-740232;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15805281,
CC ECO:0000269|PubMed:7730328}.
CC -!- TISSUE SPECIFICITY: Mainly expressed in activated vascular endothelial
CC cells. To a lower extent, also expressed in hepatoma cells.
CC {ECO:0000269|PubMed:15805281, ECO:0000269|PubMed:7730328}.
CC -!- INDUCTION: By TNF, IL1A/interleukin-1 alpha and parthenolide.
CC {ECO:0000269|PubMed:15805281, ECO:0000269|PubMed:7730328}.
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DR EMBL; X83703; CAA58676.1; -; mRNA.
DR EMBL; AY903446; AAX23581.1; -; mRNA.
DR EMBL; AL590622; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC018667; AAH18667.1; -; mRNA.
DR CCDS; CCDS7412.1; -.
DR PIR; A57291; A57291.
DR RefSeq; NP_055206.2; NM_014391.2.
DR AlphaFoldDB; Q15327; -.
DR SMR; Q15327; -.
DR BioGRID; 117975; 25.
DR IntAct; Q15327; 20.
DR STRING; 9606.ENSP00000360762; -.
DR iPTMnet; Q15327; -.
DR PhosphoSitePlus; Q15327; -.
DR BioMuta; ANKRD1; -.
DR DMDM; 109940213; -.
DR EPD; Q15327; -.
DR MassIVE; Q15327; -.
DR MaxQB; Q15327; -.
DR PaxDb; Q15327; -.
DR PeptideAtlas; Q15327; -.
DR PRIDE; Q15327; -.
DR ProteomicsDB; 60530; -.
DR Antibodypedia; 30337; 264 antibodies from 28 providers.
DR DNASU; 27063; -.
DR Ensembl; ENST00000371697.4; ENSP00000360762.3; ENSG00000148677.7.
DR GeneID; 27063; -.
DR KEGG; hsa:27063; -.
DR MANE-Select; ENST00000371697.4; ENSP00000360762.3; NM_014391.3; NP_055206.2.
DR UCSC; uc001khe.2; human.
DR CTD; 27063; -.
DR DisGeNET; 27063; -.
DR GeneCards; ANKRD1; -.
DR GeneReviews; ANKRD1; -.
DR HGNC; HGNC:15819; ANKRD1.
DR HPA; ENSG00000148677; Tissue enriched (heart).
DR MalaCards; ANKRD1; -.
DR MIM; 609599; gene.
DR neXtProt; NX_Q15327; -.
DR OpenTargets; ENSG00000148677; -.
DR Orphanet; 154; Familial isolated dilated cardiomyopathy.
DR PharmGKB; PA134882768; -.
DR VEuPathDB; HostDB:ENSG00000148677; -.
DR eggNOG; KOG0504; Eukaryota.
DR GeneTree; ENSGT00940000153956; -.
DR HOGENOM; CLU_000134_11_1_1; -.
DR InParanoid; Q15327; -.
DR OMA; HSTALHW; -.
DR OrthoDB; 1514637at2759; -.
DR PhylomeDB; Q15327; -.
DR TreeFam; TF331650; -.
DR PathwayCommons; Q15327; -.
DR Reactome; R-HSA-1989781; PPARA activates gene expression.
DR SignaLink; Q15327; -.
DR SIGNOR; Q15327; -.
DR BioGRID-ORCS; 27063; 15 hits in 1077 CRISPR screens.
DR ChiTaRS; ANKRD1; human.
DR GeneWiki; ANKRD1; -.
DR GenomeRNAi; 27063; -.
DR Pharos; Q15327; Tbio.
DR PRO; PR:Q15327; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q15327; protein.
DR Bgee; ENSG00000148677; Expressed in apex of heart and 97 other tissues.
DR ExpressionAtlas; Q15327; baseline and differential.
DR Genevisible; Q15327; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; IDA:BHF-UCL.
DR GO; GO:0001650; C:fibrillar center; IDA:HPA.
DR GO; GO:0031674; C:I band; ISS:BHF-UCL.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:BHF-UCL.
DR GO; GO:0005667; C:transcription regulator complex; IEA:Ensembl.
DR GO; GO:0003677; F:DNA binding; IDA:BHF-UCL.
DR GO; GO:0042826; F:histone deacetylase binding; IPI:BHF-UCL.
DR GO; GO:0002039; F:p53 binding; IPI:BHF-UCL.
DR GO; GO:0070412; F:R-SMAD binding; IPI:BHF-UCL.
DR GO; GO:0061629; F:RNA polymerase II-specific DNA-binding transcription factor binding; IPI:BHF-UCL.
DR GO; GO:0031432; F:titin binding; IPI:BHF-UCL.
DR GO; GO:0003713; F:transcription coactivator activity; IDA:BHF-UCL.
DR GO; GO:0003714; F:transcription corepressor activity; TAS:BHF-UCL.
DR GO; GO:0055008; P:cardiac muscle tissue morphogenesis; IMP:BHF-UCL.
DR GO; GO:0071347; P:cellular response to interleukin-1; IDA:BHF-UCL.
DR GO; GO:0071222; P:cellular response to lipopolysaccharide; IDA:BHF-UCL.
DR GO; GO:0071260; P:cellular response to mechanical stimulus; IDA:UniProtKB.
DR GO; GO:0071560; P:cellular response to transforming growth factor beta stimulus; IDA:BHF-UCL.
DR GO; GO:0071356; P:cellular response to tumor necrosis factor; IDA:BHF-UCL.
DR GO; GO:0071466; P:cellular response to xenobiotic stimulus; IEA:Ensembl.
DR GO; GO:2000279; P:negative regulation of DNA biosynthetic process; IMP:BHF-UCL.
DR GO; GO:0043065; P:positive regulation of apoptotic process; IMP:BHF-UCL.
DR GO; GO:0043517; P:positive regulation of DNA damage response, signal transduction by p53 class mediator; IDA:BHF-UCL.
DR GO; GO:0050714; P:positive regulation of protein secretion; IMP:UniProtKB.
DR GO; GO:0070528; P:protein kinase C signaling; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0035994; P:response to muscle stretch; IMP:BHF-UCL.
DR GO; GO:0045214; P:sarcomere organization; NAS:BHF-UCL.
DR GO; GO:0035914; P:skeletal muscle cell differentiation; IEA:Ensembl.
DR Gene3D; 1.25.40.20; -; 2.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR Pfam; PF12796; Ank_2; 2.
DR PRINTS; PR01415; ANKYRIN.
DR SMART; SM00248; ANK; 4.
DR SUPFAM; SSF48403; SSF48403; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 4.
PE 1: Evidence at protein level;
KW ANK repeat; Coiled coil; Disease variant; Nucleus; Reference proteome;
KW Repeat.
FT CHAIN 1..319
FT /note="Ankyrin repeat domain-containing protein 1"
FT /id="PRO_0000240479"
FT REPEAT 152..181
FT /note="ANK 1"
FT REPEAT 185..214
FT /note="ANK 2"
FT REPEAT 218..247
FT /note="ANK 3"
FT REPEAT 251..280
FT /note="ANK 4"
FT REPEAT 284..315
FT /note="ANK 5"
FT COILED 61..89
FT /evidence="ECO:0000255"
FT VARIANT 116
FT /note="T -> M (found in a sporadic case of total anomalous
FT pulmonary venous return; unknown pathological significance;
FT dbSNP:rs142354133)"
FT /evidence="ECO:0000269|PubMed:18273862"
FT /id="VAR_047112"
FT CONFLICT 71
FT /note="K -> P (in Ref. 1; CAA58676)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 319 AA; 36252 MW; 9AD91D2B1344A235 CRC64;
MMVLKVEELV TGKKNGNGEA GEFLPEDFRD GEYEAAVTLE KQEDLKTLLA HPVTLGEQQW
KSEKQREAEL KKKKLEQRSK LENLEDLEII IQLKKRKKYR KTKVPVVKEP EPEIITEPVD
VPTFLKAALE NKLPVVEKFL SDKNNPDVCD EYKRTALHRA CLEGHLAIVE KLMEAGAQIE
FRDMLESTAI HWASRGGNLD VLKLLLNKGA KISARDKLLS TALHVAVRTG HYECAEHLIA
CEADLNAKDR EGDTPLHDAV RLNRYKMIRL LIMYGADLNI KNCAGKTPMD LVLHWQNGTK
AIFDSLRENS YKTSRIATF
