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Aliases for ANKRD1 Gene

Aliases for ANKRD1 Gene

  • Ankyrin Repeat Domain 1 (Cardiac Muscle) 2 3
  • Cytokine-Inducible Gene C-193 Protein 3 4
  • Cytokine-Inducible Nuclear Protein 3 4
  • Cardiac Ankyrin Repeat Protein 3 4
  • CARP 3 4
  • Ankyrin Repeat Domain-Containing Protein 1 3
  • Liver Ankyrin Repeat Domain 1 3
  • BA320F15.2 3
  • C-193 3
  • CVARP 3
  • MCARP 3
  • HA1A2 4
  • ALRP 3
  • C193 4

External Ids for ANKRD1 Gene

Previous GeneCards Identifiers for ANKRD1 Gene

  • GC10M092336
  • GC10M092661
  • GC10M086300

Summaries for ANKRD1 Gene

Entrez Gene Summary for ANKRD1 Gene

  • The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]

GeneCards Summary for ANKRD1 Gene

ANKRD1 (Ankyrin Repeat Domain 1 (Cardiac Muscle)) is a Protein Coding gene. Diseases associated with ANKRD1 include total anomalous pulmonary venous return and ankrd1-related dilated cardiomyopathy. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include transcription corepressor activity and p53 binding. An important paralog of this gene is GABPB2.

UniProtKB/Swiss-Prot for ANKRD1 Gene

  • 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.

Gene Wiki entry for ANKRD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD1 Gene

Genomics for ANKRD1 Gene

Regulatory Elements for ANKRD1 Gene

Genomic Location for ANKRD1 Gene

Start:
90,912,096 bp from pter
End:
90,921,276 bp from pter
Size:
9,181 bases
Orientation:
Minus strand

Genomic View for ANKRD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ANKRD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD1 Gene

Proteins for ANKRD1 Gene

  • Protein details for ANKRD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15327-ANKR1_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 1
    Protein Accession:
    Q15327
    Secondary Accessions:
    • Q96LE7

    Protein attributes for ANKRD1 Gene

    Size:
    319 amino acids
    Molecular mass:
    36252 Da
    Quaternary structure:
    • Interacts with YBX1 (By similarity). Interacts with TTN/titin.

neXtProt entry for ANKRD1 Gene

Proteomics data for ANKRD1 Gene at MOPED

Post-translational modifications for ANKRD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKRD1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ANKRD1 Gene

Domains for ANKRD1 Gene

Gene Families for ANKRD1 Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing

Protein Domains for ANKRD1 Gene

Suggested Antigen Peptide Sequences for ANKRD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15327

UniProtKB/Swiss-Prot:

ANKR1_HUMAN :
  • Q15327
Similarity:
  • Contains 5 ANK repeats.
genes like me logo Genes that share domains with ANKRD1: view

Function for ANKRD1 Gene

Molecular function for ANKRD1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction: By TNF, IL1A/interleukin-1 alpha and parthenolide.

Gene Ontology (GO) - Molecular Function for ANKRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001085 RNA polymerase II transcription factor binding IPI 20599664
GO:0001105 RNA polymerase II transcription coactivator activity IDA 20599664
GO:0002039 p53 binding IPI 20599664
GO:0003677 DNA binding IDA 7730328
GO:0003714 transcription corepressor activity TAS 20599664
genes like me logo Genes that share ontologies with ANKRD1: view
genes like me logo Genes that share phenotypes with ANKRD1: view

Animal Models for ANKRD1 Gene

MGI Knock Outs for ANKRD1:

Animal Model Products

CRISPR Products

miRNA for ANKRD1 Gene

miRTarBase miRNAs that target ANKRD1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ANKRD1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ANKRD1 Gene

Localization for ANKRD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKRD1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANKRD1 Gene COMPARTMENTS Subcellular localization image for ANKRD1 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ANKRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12054667
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA 12054667
genes like me logo Genes that share ontologies with ANKRD1: view

Pathways for ANKRD1 Gene

genes like me logo Genes that share pathways with ANKRD1: view

Gene Ontology (GO) - Biological Process for ANKRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter --
GO:0010976 positive regulation of neuron projection development IEA --
GO:0035690 cellular response to drug IEA --
GO:0035914 skeletal muscle cell differentiation IEA --
genes like me logo Genes that share ontologies with ANKRD1: view

Compounds for ANKRD1 Gene

(1) Novoseek inferred chemical compound relationships for ANKRD1 Gene

Compound -log(P) Hits PubMed IDs
doxorubicin 17.1 2
genes like me logo Genes that share compounds with ANKRD1: view

Transcripts for ANKRD1 Gene

mRNA/cDNA for ANKRD1 Gene

(39) Selected AceView cDNA sequences:
(5) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ANKRD1 Gene

Ankyrin repeat domain 1 (cardiac muscle):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ANKRD1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD1 Gene

No ASD Table

Relevant External Links for ANKRD1 Gene

GeneLoc Exon Structure for
ANKRD1
ECgene alternative splicing isoforms for
ANKRD1

Expression for ANKRD1 Gene

mRNA expression in normal human tissues for ANKRD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANKRD1 Gene

This gene is overexpressed in Heart - Left Ventricle (24.8), Heart - Atrial Appendage (22.2), and Muscle - Skeletal (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ANKRD1 Gene

SOURCE GeneReport for Unigene cluster for ANKRD1 Gene Hs.448589

mRNA Expression by UniProt/SwissProt for ANKRD1 Gene

Q15327-ANKR1_HUMAN
Tissue specificity: Mainly expressed in activated vascular endothelial cells. To a lower extent, also expressed in hepatoma cells.
genes like me logo Genes that share expressions with ANKRD1: view

In Situ Assay Products

Orthologs for ANKRD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ANKRD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKRD1 35
  • 99.58 (n)
  • 99.69 (a)
ANKRD1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ANKRD1 35
  • 90.07 (n)
  • 94.04 (a)
ANKRD1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD1 35
  • 91.85 (n)
  • 94.67 (a)
ANKRD1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd1 35
  • 87.25 (n)
  • 90.28 (a)
Ankrd1 16
Ankrd1 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANKRD1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD1 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankrd1 35
  • 86 (n)
  • 90.91 (a)
chicken
(Gallus gallus)
Aves ANKRD1 35
  • 71.89 (n)
  • 70.53 (a)
ANKRD1 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD1 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd1 35
  • 70.65 (n)
  • 67.3 (a)
zebrafish
(Danio rerio)
Actinopterygii ankrd1a 35
  • 61.17 (n)
  • 58.92 (a)
ankrd1a 36
  • 53 (a)
OneToMany
ankrd1b 36
  • 50 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToMany
Species with no ortholog for ANKRD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANKRD1 Gene

ENSEMBL:
Gene Tree for ANKRD1 (if available)
TreeFam:
Gene Tree for ANKRD1 (if available)

Paralogs for ANKRD1 Gene

Paralogs for ANKRD1 Gene

Selected SIMAP similar genes for ANKRD1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ANKRD1: view

Variants for ANKRD1 Gene

Sequence variations from dbSNP and Humsavar for ANKRD1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs3939 -- 90,912,807(-) GCCCA(A/G)GAGAA utr-variant-3-prime
rs1130407 -- 90,920,276(-) AGTAT(G/T)AAGCT reference, stop-gained
rs3824739 -- 90,921,718(-) GGCCA(A/G)TGACA upstream-variant-2KB
rs3839929 -- 90,915,893(-) GTTTT(-/T)CCAAT intron-variant
rs4933200 -- 90,916,370(+) CCCCA(C/T)CTAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANKRD1 Gene

Variant ID Type Subtype PubMed ID
nsv831945 CNV Gain 17160897

Relevant External Links for ANKRD1 Gene

HapMap Linkage Disequilibrium report
ANKRD1
Human Gene Mutation Database (HGMD)
ANKRD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD1 Gene

Disorders for ANKRD1 Gene

UniProtKB/Swiss-Prot

ANKR1_HUMAN
  • 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 15000 live births. {ECO:0000269 PubMed:18273862}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ANKRD1 Gene

(4) Novoseek inferred disease relationships for ANKRD1 Gene

Disease -log(P) Hits PubMed IDs
cardiac hypertrophy 40.3 2
heart failure 40.2 8
hypertrophy 38.3 4
muscular dystrophies 37.5 2

Relevant External Links for ANKRD1

Genetic Association Database (GAD)
ANKRD1
Human Genome Epidemiology (HuGE) Navigator
ANKRD1
genes like me logo Genes that share disorders with ANKRD1: view

Publications for ANKRD1 Gene

  1. Identification and characterization of a novel cytokine-inducible nuclear protein from human endothelial cells. (PMID: 7730328) Chu W. … Presky D.H. (J. Biol. Chem. 1995) 2 3 4 23
  2. Identification of the genes involved in enhanced fenretinide-induced apoptosis by parthenolide in human hepatoma cells. (PMID: 15805281) Park J.-H. … Kim D.-G. (Cancer Res. 2005) 3 4 23
  3. Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy. (PMID: 19525294) Duboscq-Bidot L. … Villard E. (Eur. Heart J. 2009) 3 23 48
  4. ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene. (PMID: 19608030) Moulik M. … Towbin J.A. (J. Am. Coll. Cardiol. 2009) 3 23 48
  5. Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID: 19608031) Arimura T. … Kimura A. (J. Am. Coll. Cardiol. 2009) 3 23 48

Products for ANKRD1 Gene

  • antibodies-online proteins for ANKRD1
  • antibodies-online antibodies for ANKRD1
  • antibodies-online kits for ANKRD1

Sources for ANKRD1 Gene

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