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Protein

Ankyrin repeat domain-containing protein 1

Gene

ANKRD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • DNA binding Source: BHF-UCL
  • histone deacetylase binding Source: BHF-UCL
  • p53 binding Source: BHF-UCL
  • RNA polymerase II sequence-specific DNA binding transcription factor binding Source: GO_Central
  • RNA polymerase II transcription coactivator activity Source: BHF-UCL
  • RNA polymerase II transcription factor binding Source: BHF-UCL
  • R-SMAD binding Source: BHF-UCL
  • titin binding Source: BHF-UCL
  • transcription corepressor activity Source: BHF-UCL

GO - Biological processi

  • cardiac muscle tissue morphogenesis Source: BHF-UCL
  • cellular response to drug Source: Ensembl
  • cellular response to hypoxia Source: Ensembl
  • cellular response to interleukin-1 Source: BHF-UCL
  • cellular response to lipopolysaccharide Source: BHF-UCL
  • cellular response to mechanical stimulus Source: UniProtKB
  • cellular response to organic cyclic compound Source: Ensembl
  • cellular response to transforming growth factor beta stimulus Source: BHF-UCL
  • cellular response to tumor necrosis factor Source: BHF-UCL
  • myoblast differentiation Source: GO_Central
  • negative regulation of DNA biosynthetic process Source: BHF-UCL
  • negative regulation of transcription by RNA polymerase II Source: Ensembl
  • positive regulation of apoptotic process Source: BHF-UCL
  • positive regulation of DNA damage response, signal transduction by p53 class mediator Source: BHF-UCL
  • positive regulation of neuron projection development Source: Ensembl
  • positive regulation of protein secretion Source: UniProtKB
  • regulation of lipid metabolic process Source: Reactome
  • response to muscle stretch Source: BHF-UCL
  • sarcomere organization Source: BHF-UCL
  • skeletal muscle cell differentiation Source: GO_Central

Enzyme and pathway databases

ReactomeiR-HSA-1989781 PPARA activates gene expression
SIGNORiQ15327

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
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000148677.6
HGNCiHGNC:15819 ANKRD1
MIMi609599 gene
neXtProtiNX_Q15327

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Total anomalous pulmonary venous return (TAPVR)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionRare 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.
See also OMIM:106700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047112116T → M in TAPVR. 1 PublicationCorresponds to variant dbSNP:rs142354133EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi27063
GeneReviewsiANKRD1
MalaCardsiANKRD1
MIMi106700 phenotype
OpenTargetsiENSG00000148677
PharmGKBiPA134882768

Polymorphism and mutation databases

BioMutaiANKRD1
DMDMi109940213

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002404791 – 319Ankyrin repeat domain-containing protein 1Add BLAST319

Proteomic databases

EPDiQ15327
MaxQBiQ15327
PaxDbiQ15327
PeptideAtlasiQ15327
PRIDEiQ15327
ProteomicsDBi60530

PTM databases

iPTMnetiQ15327
PhosphoSitePlusiQ15327

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

BgeeiENSG00000148677
CleanExiHS_ANKRD1
GenevisibleiQ15327 HS

Organism-specific databases

HPAiHPA038736

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
ZNF446Q9NWS9-24EBI-5653378,EBI-740232

GO - Molecular functioni

  • histone deacetylase binding Source: BHF-UCL
  • p53 binding Source: BHF-UCL
  • RNA polymerase II sequence-specific DNA binding transcription factor binding Source: GO_Central
  • RNA polymerase II transcription factor binding Source: BHF-UCL
  • R-SMAD binding Source: BHF-UCL
  • titin binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi117975, 5 interactors
IntActiQ15327, 18 interactors
STRINGi9606.ENSP00000360762

Structurei

3D structure databases

ProteinModelPortaliQ15327
SMRiQ15327
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati152 – 181ANK 1Add BLAST30
Repeati185 – 214ANK 2Add BLAST30
Repeati218 – 247ANK 3Add BLAST30
Repeati251 – 280ANK 4Add BLAST30
Repeati284 – 315ANK 5Add BLAST32

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili61 – 89Sequence analysisAdd BLAST29

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00910000144039
HOGENOMiHOG000236321
HOVERGENiHBG071561
InParanoidiQ15327
KOiK21433
OMAiKGDPNVC
OrthoDBiEOG091G0DCN
PhylomeDBiQ15327
TreeFamiTF331650

Family and domain databases

CDDicd00204 ANK, 1 hit
Gene3Di1.25.40.20, 2 hits
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
PfamiView protein in Pfam
PF12796 Ank_2, 2 hits
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 4 hits
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 4 hits

Sequencei

Sequence statusi: Complete.

Q15327-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MMVLKVEELV TGKKNGNGEA GEFLPEDFRD GEYEAAVTLE KQEDLKTLLA
60 70 80 90 100
HPVTLGEQQW KSEKQREAEL KKKKLEQRSK LENLEDLEII IQLKKRKKYR
110 120 130 140 150
KTKVPVVKEP EPEIITEPVD VPTFLKAALE NKLPVVEKFL SDKNNPDVCD
160 170 180 190 200
EYKRTALHRA CLEGHLAIVE KLMEAGAQIE FRDMLESTAI HWASRGGNLD
210 220 230 240 250
VLKLLLNKGA KISARDKLLS TALHVAVRTG HYECAEHLIA CEADLNAKDR
260 270 280 290 300
EGDTPLHDAV RLNRYKMIRL LIMYGADLNI KNCAGKTPMD LVLHWQNGTK
310
AIFDSLRENS YKTSRIATF
Length:319
Mass (Da):36,252
Last modified:June 27, 2006 - v2
Checksum:i9AD91D2B1344A235
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti71K → P in CAA58676 (PubMed:7730328).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047112116T → M in TAPVR. 1 PublicationCorresponds to variant dbSNP:rs142354133EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X83703 mRNA Translation: CAA58676.1
AY903446 mRNA Translation: AAX23581.1
AL590622 Genomic DNA No translation available.
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.2 human

Similar proteinsi

Entry informationi

Entry nameiANKR1_HUMAN
AccessioniPrimary (citable) accession number: Q15327
Secondary accession number(s): Q96LE7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: June 27, 2006
Last modified: June 20, 2018
This is version 139 of the entry and version 2 of the sequence. See 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

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