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Protein

Ankyrin repeat domain-containing protein 1

Gene

ANKRD1

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

  • DNA binding Source: BHF-UCL
  • histone deacetylase binding Source: BHF-UCL
  • p53 binding Source: BHF-UCL
  • 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
  • muscle cell differentiation Source: GO_Central
  • negative regulation of DNA biosynthetic process Source: BHF-UCL
  • 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
  • response to muscle stretch Source: BHF-UCL
  • sarcomere organization Source: BHF-UCL
  • skeletal muscle cell differentiation Source: Ensembl
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000148677-MONOMER.
ReactomeiR-HSA-1989781. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:15819. ANKRD1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: BHF-UCL
  • I band Source: BHF-UCL
  • nucleolus Source: HPA
  • nucleoplasm Source: Reactome
  • nucleus Source: BHF-UCL
  • sarcomere Source: GO_Central
  • transcription factor complex Source: Ensembl
Complete GO annotation...

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 rs142354133dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi27063.
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.

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

GO - Molecular functioni

  • histone deacetylase binding Source: BHF-UCL
  • p53 binding Source: BHF-UCL
  • 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. 17 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

Sequence similaritiesi

Contains 5 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00860000133710.
HOGENOMiHOG000236321.
HOVERGENiHBG071561.
InParanoidiQ15327.
OMAiKGDPNVC.
OrthoDBiEOG091G0DCN.
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

        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 rs142354133dbSNPEnsembl.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. 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.2. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ15327.
SMRiQ15327.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117975. 5 interactors.
IntActiQ15327. 17 interactors.
STRINGi9606.ENSP00000360762.

PTM databases

iPTMnetiQ15327.
PhosphoSitePlusiQ15327.

Polymorphism and mutation databases

BioMutaiANKRD1.
DMDMi109940213.

Proteomic databases

EPDiQ15327.
MaxQBiQ15327.
PaxDbiQ15327.
PeptideAtlasiQ15327.
PRIDEiQ15327.

Protocols and materials databases

DNASUi27063.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371697; ENSP00000360762; ENSG00000148677.
GeneIDi27063.
KEGGihsa:27063.
UCSCiuc001khe.2. human.

Organism-specific databases

CTDi27063.
DisGeNETi27063.
GeneCardsiANKRD1.
GeneReviewsiANKRD1.
HGNCiHGNC:15819. ANKRD1.
HPAiHPA038736.
MalaCardsiANKRD1.
MIMi106700. phenotype.
609599. gene.
neXtProtiNX_Q15327.
OpenTargetsiENSG00000148677.
PharmGKBiPA134882768.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00860000133710.
HOGENOMiHOG000236321.
HOVERGENiHBG071561.
InParanoidiQ15327.
OMAiKGDPNVC.
OrthoDBiEOG091G0DCN.
PhylomeDBiQ15327.
TreeFamiTF331650.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000148677-MONOMER.
ReactomeiR-HSA-1989781. PPARA activates gene expression.

Miscellaneous databases

ChiTaRSiANKRD1. human.
GeneWikiiANKRD1.
GenomeRNAii27063.
PROiQ15327.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148677.
CleanExiHS_ANKRD1.
GenevisibleiQ15327. HS.

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]
ProtoNetiSearch...

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: November 30, 2016
This is version 128 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.