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Aliases for ANKRD1 Gene

Aliases for ANKRD1 Gene

  • Ankyrin Repeat Domain 1 2 3 5
  • Ankyrin Repeat Domain-Containing Protein 1 3 4
  • 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
  • Epididymis Secretory Sperm Binding Protein 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) is a Protein Coding gene. Diseases associated with ANKRD1 include Total Anomalous Pulmonary Venous Return 1 and Familial Isolated Dilated Cardiomyopathy. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Hypertrophy Model. Gene Ontology (GO) annotations related to this gene include transcription factor binding and histone deacetylase binding. An important paralog of this gene is ANKRD2.

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

Additional gene information for ANKRD1 Gene

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

Genomics for ANKRD1 Gene

GeneHancer (GH) Regulatory Elements for ANKRD1 Gene

Promoters and enhancers for ANKRD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J091161 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 600.1 -242.3 -242269 3.7 ZFX ZNF148 NKRF CEBPG ZNF687 SP7 SP1 PPARG SP5 CREM PCGF5 ANKRD1 BTAF1 TNKS2 RPP30 NUDT9P1 HECTD2 PIR60971
GH10J090916 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 600.7 +1.8 1832 6.6 ZNF652 ELF3 CEBPG RERE MAFK TFE3 SP7 ELF1 SP5 PRDM1 ANKRD1 HTR7 GC10M090914 RNU6-740P
GH10J090997 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11 -78.3 -78264 3.7 ZNF687 RELA CREM MLLT1 ZBED1 IKZF1 BACH1 IKZF2 PKNOX1 NRF1 ENSG00000273124 RNU6-740P ANKRD1 ENSG00000225519 LINC00502
GH10J090959 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.3 -39.4 -39403 2.6 MAFK CREM POLR2A CREB1 ZNF600 PKNOX1 CEBPB JUN SP1 NFE2 ENSG00000225519 ANKRD1 RNU6-740P GC10M090939
GH10J091032 Enhancer 1 FANTOM5 Ensembl ENCODE 10.6 -113.1 -113125 4 MZF1 ZNF547 CREB1 POLR2A GABPA NR2C2 STAT1 HNF4A ZNF362 LINC00502 LOC105378430 ANKRD1 RNU6-740P DDX18P6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKRD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKRD1 gene promoter:
  • AP-2gamma
  • E2F
  • E2F-1
  • Evi-1
  • GATA-6
  • IRF-1
  • IRF-7A
  • Lmo2
  • STAT3
  • TBP

Genomic Locations for ANKRD1 Gene

Genomic Locations for ANKRD1 Gene
chr10:90,912,096-90,921,276
(GRCh38/hg38)
Size:
9,181 bases
Orientation:
Minus strand
chr10:92,671,853-92,681,033
(GRCh37/hg19)
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

Post-translational modifications for ANKRD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKRD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANKRD1 Gene

Domains & Families for ANKRD1 Gene

Gene Families for ANKRD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ANKRD1 Gene

Suggested Antigen Peptide Sequences for ANKRD1 Gene

GenScript: Design optimal peptide antigens:
  • Cytokine-inducible nuclear protein (ANKR1_HUMAN)
  • ANKRD1 protein (Q05DQ9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for ANKRD1 Gene

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.

Phenotypes From GWAS Catalog for ANKRD1 Gene

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:0002039 p53 binding IPI 20599664
GO:0003677 DNA binding IDA 7730328
GO:0003713 transcription coactivator activity IDA 20599664
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

Human Phenotype Ontology for ANKRD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD1

Clone Products

  • Applied Biological Materials (abm): Clones for ANKRD1 - Now 50% OFF >
  • * ANKRD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ANKRD1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANKRD1 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANKRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IDA,IBA 7730328
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 12054667
GO:0005829 cytosol IDA 19608030
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

SIGNOR curated interactions for ANKRD1 Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ANKRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007519 skeletal muscle tissue development IBA 21873635
GO:0010976 positive regulation of neuron projection development IEA --
GO:0019216 regulation of lipid metabolic process TAS --
genes like me logo Genes that share ontologies with ANKRD1: view

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 :
(7) Additional mRNA sequences :
(39) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for ANKRD1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD1

Clone Products

  • Applied Biological Materials (abm): Clones for ANKRD1 - Now 50% OFF >
  • * ANKRD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ANKRD1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ANKRD1 Gene



Protein tissue co-expression partners for ANKRD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANKRD1 Gene:

ANKRD1

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.

Evidence on tissue expression from TISSUES for ANKRD1 Gene

  • Muscle(4.8)
  • Heart(4.5)
  • Skin(4)
genes like me logo Genes that share expression patterns with ANKRD1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD1 Gene

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 34
  • 99.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD1 35 34
  • 91.85 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKRD1 35 34
  • 90.07 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd1 17 35 34
  • 87.25 (n)
rat
(Rattus norvegicus)
Mammalia Ankrd1 34
  • 86 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKRD1 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD1 35 34
  • 71.89 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD1 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd1 34
  • 70.65 (n)
zebrafish
(Danio rerio)
Actinopterygii ankrd1a 35 34
  • 61.17 (n)
OneToMany
ankrd1b 35
  • 50 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 23 (a)
OneToMany
Species where no ortholog for ANKRD1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ANKRD1: view image

Paralogs for ANKRD1 Gene

Paralogs for ANKRD1 Gene

(6) SIMAP similar genes for ANKRD1 Gene using alignment to 2 proteins:

  • ANKR1_HUMAN
  • Q05DQ9_HUMAN
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 Variation AA Info Type
rs1048316962 uncertain-significance, Cardiovascular phenotype 90,918,930(-) C/A coding_sequence_variant, stop_gained
rs1060504952 likely-benign, ANKRD1-related dilated cardiomyopathy 90,919,206(-) G/T coding_sequence_variant, synonymous_variant
rs10881854 benign, not specified, not provided 90,918,991(-) A/T intron_variant
rs10881855 likely-benign, Dilated Cardiomyopathy, Dominant 90,921,172(-) A/G 5_prime_UTR_variant
rs114144205 benign, uncertain-significance, not specified, Dilated Cardiomyopathy, Dominant 90,921,061(-) G/A 5_prime_UTR_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)

Additional Variant Information for ANKRD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

(8) MalaCards diseases for ANKRD1 Gene - From: HGMD, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
total anomalous pulmonary venous return 1
  • tapvr1
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
diastolic heart failure
  • heart failure, diastolic
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 15'000 live births. {ECO:0000269 PubMed:18273862}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ANKRD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 DH (The Journal of biological chemistry 1995) 2 3 4 23 58
  2. Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy. (PMID: 19525294) Duboscq-Bidot L … EUROGENE Heart Failure Network (European heart journal 2009) 3 23 45 58
  3. ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene. (PMID: 19608030) Moulik M … Towbin JA (Journal of the American College of Cardiology 2009) 3 23 45 58
  4. Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID: 19608031) Arimura T … Kimura A (Journal of the American College of Cardiology 2009) 3 23 45 58
  5. Identification of the genes involved in enhanced fenretinide-induced apoptosis by parthenolide in human hepatoma cells. (PMID: 15805281) Park JH … Kim DG (Cancer research 2005) 3 4 23 58

Products for ANKRD1 Gene

  • Boster Bio Antibodies for ANKRD1
  • Boster Bio ELISA Kits for ANKRD1

Sources for ANKRD1 Gene

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