Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ANKRD1 Gene

Aliases for ANKRD1 Gene

  • Ankyrin Repeat Domain 1 2 3
  • Ankyrin Repeat Domain 1 (Cardiac Muscle) 2 3 5
  • Cytokine-Inducible Gene C-193 Protein 3 4
  • Cytokine-Inducible Nuclear Protein 3 4
  • Cardiac Ankyrin Repeat Protein 3 4
  • CARP 3 4
  • 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) is a Protein Coding gene. Diseases associated with ANKRD1 include total anomalous pulmonary venous return and familial isolated dilated cardiomyopathy. Among its related pathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include transcription factor binding and histone deacetylase binding. An important paralog of this gene is ANKRD54.

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

Promoters for ANKRD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ANKRD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ANKRD1 Gene

Chromosome:
10
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

Genes around ANKRD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ANKRD1 Gene

Domains & Families for ANKRD1 Gene

Gene Families for ANKRD1 Gene

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 :
  • Contains 5 ANK repeats.
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:0031432 titin binding IEA,IPI 14583192
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

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
cytosol 5
nucleus 5
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ANKRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA 19608030
GO:0031674 I band IEA,ISS 19525294
genes like me logo Genes that share ontologies with ANKRD1: view

Pathways & Interactions 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:0035690 cellular response to drug IEA --
GO:0035914 skeletal muscle cell differentiation IEA --
GO:0043065 positive regulation of apoptotic process IMP 15805281
GO:0043517 positive regulation of DNA damage response, signal transduction by p53 class mediator IDA 20599664
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with ANKRD1: view

No data available for SIGNOR curated interactions for ANKRD1 Gene

Drugs & Compounds for ANKRD1 Gene

(1) Drugs for ANKRD1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ANKRD1: view

Transcripts for ANKRD1 Gene

mRNA/cDNA for ANKRD1 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(39) Selected AceView cDNA sequences:
(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

Inhibitory RNA 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 (x24.8), Heart - Atrial Appendage (x22.2), and Muscle - Skeletal (x4.4).

Protein differential expression in normal tissues from HIPED for ANKRD1 Gene

This gene is overexpressed in Heart (60.9) and Fetal heart (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ANKRD1: view

Protein tissue co-expression partners for ANKRD1 Gene

- Elite partner

Primer Products

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 36
  • 94 (a)
OneToOne
ANKRD1 35
  • 90.07 (n)
  • 94.04 (a)
dog
(Canis familiaris)
Mammalia ANKRD1 35
  • 91.85 (n)
  • 94.67 (a)
ANKRD1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd1 16
Ankrd1 35
  • 87.25 (n)
  • 90.28 (a)
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 36
  • 53 (a)
OneToMany
ankrd1b 36
  • 50 (a)
OneToMany
ankrd1a 35
  • 61.17 (n)
  • 58.92 (a)
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

(6) 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
rs3939 -- 90,912,807(-) GCCCA(A/G)GAGAA utr-variant-3-prime
rs3839929 -- 90,915,893(-) GTTTT(-/T)CCAAT intron-variant
rs5786929 -- 90,921,726(+) GCCAT(-/AAT)TAGCA upstream-variant-2KB
rs7477890 -- 90,921,831(+) AACCA(G/T)CTATC upstream-variant-2KB
rs10047267 -- 90,919,873(+) TCTCC(C/G)TTGCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831945 CNV Gain 17160897

Variation tolerance for ANKRD1 Gene

Residual Variation Intolerance Score: 57.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.60; 30.85% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(6) MalaCards diseases for ANKRD1 Gene - From: GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
total anomalous pulmonary venous return
  • scimitar syndrome
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
diastolic heart failure
  • heart failure, diastolic
testicular anomalies with or without congenital heart disease
  • tachd
congenital heart disease
  • congestive heart failure
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for ANKRD1

Genetic Association Database (GAD)
ANKRD1
Human Genome Epidemiology (HuGE) Navigator
ANKRD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKRD1
genes like me logo Genes that share disorders with ANKRD1: view

No data available for Genatlas for ANKRD1 Gene

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 67
  2. Upregulated expression of cardiac ankyrin repeat protein in human failing hearts due to arrhythmogenic right ventricular cardiomyopathy. (PMID: 19359327) Wei Y.J. … Hu S.S. (Eur. J. Heart Fail. 2009) 3 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
  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
  5. Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID: 19608031) Arimura T. … Kimura A. (J. Am. Coll. Cardiol. 2009) 3 23

Products for ANKRD1 Gene

Sources for ANKRD1 Gene

Back to Top

Content