Aliases for ANKRD1 Gene
Aliases for ANKRD1 Gene
External Ids for ANKRD1 Gene
- HGNC: 15819
- Entrez Gene: 27063
- Ensembl: ENSG00000148677
- OMIM: 609599
- UniProtKB: Q15327
Previous GeneCards Identifiers for ANKRD1 Gene
- GC10M092336
- GC10M092661
- GC10M086300
Summaries 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 Hypertrophy Model 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 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD1 Gene
Genomics for ANKRD1 Gene
Regulatory Elements for ANKRD1 Gene
Enhancers for ANKRD1 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH10G090997 | 1.5 | FANTOM5 ENCODE dbSUPER | 10.9 | -77.8 | -77811 | 2.8 | PKNOX1 FOXA2 ARID4B TCF12 ZNF766 ELK1 SP5 JUNB TBX21 PPARG | ANKRD1 RNU6-740P ENSG00000225519 LOC105378431 |
| GH10G090959 | 1.3 | Ensembl ENCODE dbSUPER | 11.3 | -39.3 | -39318 | 2.4 | GTF2F1 CTCF PKNOX1 FOXA2 JUN ZMYM3 ZKSCAN1 GATA2 ZNF600 NFE2 | ENSG00000225519 RNU6-740P ANKRD1 GC10M090939 |
| GH10G090992 | 0.9 | dbSUPER | 11 | -72.7 | -72742 | 2.2 | HDAC1 CBX3 WRNIP1 YBX1 TCF12 ZNF766 RELB CREM CBFB USF2 | RNU6-740P ANKRD1 ENSG00000225519 XLOC_008559 |
| GH10G091033 | 0.9 | Ensembl ENCODE | 10.6 | -113.2 | -113208 | 1.7 | CTCF STAT1 MXI1 ZNF362 GABPA GATA2 ZNF547 FOS HNF4A NR2C2 | ANKRD1 RNU6-740P LOC105378430 LINC00502 |
| GH10G090884 | 0.9 | ENCODE | 10.4 | +36.1 | 36068 | 2.4 | HDAC1 ZNF133 ARID4B SIN3A RAD21 ZNF121 FOS ZNF654 USF2 CEBPB | HTR7 RNU6-740P ANKRD1 PIR59702 PIR41318 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around ANKRD1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 10q23.31 by Ensembl
- 10q23.31 by Entrez Gene
- 10q23.31 by HGNC
ANKRD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for ANKRD1 Gene
Post-translational modifications for ANKRD1 Gene
Other Protein References for ANKRD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Abcam antibodies for ANKRD1
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- antibodies-online Antibodies for ANKRD1: See all 48
- GeneTex ANKRD1 antibody for ANKRD1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ANKRD1
Protein Products
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Cloud-Clone Corp. Proteins for ANKRD1
- antibodies-online Proteins for ANKRD1: See all 14
- Search antibodies-online for peptides
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-
Abcam proteins for ANKRD1
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
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ANKRD1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
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.
| 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 |
Phenotypes for ANKRD1 Gene
- MGI mutant phenotypes for ANKRD1:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for ANKRD1:
Animal Models for ANKRD1 Gene
Animal Model Products
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ViGene Biosciences lentiviral particle packaged cDNA for ANKRD1 gene
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miRNA for ANKRD1 Gene
- miRTarBase miRNAs that target ANKRD1
miRNA Products
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Inhibitory RNA Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
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Horizon Cell Lines for ANKRD1
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ViGene Biosciences adenoviral particle packaged cDNA for ANKRD1 gene
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ViGene Biosciences lentiviral particle packaged cDNA for ANKRD1 gene
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Flow Cytometry Products
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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001650 | fibrillar center | IDA | -- |
| GO:0005634 | nucleus | IDA | 7730328 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | IEA | -- |
| GO:0005737 | cytoplasm | IDA | 12054667 |
Pathways & Interactions for ANKRD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
| 2 | Metabolism |
.37
|
|
| 3 | Hypertrophy Model | ||
Pathways by source for ANKRD1 Gene
1 BioSystems pathway for ANKRD1 Gene
Interacting Proteins for ANKRD1 Gene
Selected Interacting proteins:
ENSP00000360762
Q15327-ANKR1_HUMAN
for ANKRD1 Gene via
STRING
UniProtKB
IID
| 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 | IEA | -- |
| GO:0006366 | transcription from RNA polymerase II promoter | IEA | -- |
| GO:0010976 | positive regulation of neuron projection development | IEA | -- |
| GO:0019216 | regulation of lipid metabolic process | TAS | -- |
No data available for SIGNOR curated interactions for ANKRD1 Gene
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
CRISPR Products
-
OriGene CRISPR knockouts for ANKRD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ANKRD1
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miRNA Products
- Search ViGene Biosciences for ANKRD1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ANKRD1
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ViGene Biosciences ready-to-package AAV shRNAs for ANKRD1 gene
Clone Products
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- VectorBuilder custom plasmid, inducible vectors for ANKRD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ANKRD1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for ANKRD1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Multinuclear Myocytes Anterior Neck Muscles
- Multinuclear Myocytes Forelimb Dorsal Muscles
- Multinuclear Myocytes Trunk Muscles
- Multinuclear Myocytes Hindlimb Ventral Muscle
- Multinuclear Myocytes Lumbar Vertebrae Column Muscles
-
Heart (Cardiovascular System)
- Primitive Heart Tube Cells Primitive Heart Tube
- Atrioventricular Canal Cells Atrioventricular Canal
- Cardiac Fibroblasts Myocardium
- Heart Tube
- Right Ventricle
-
Limb (Muscoskeletal System)
- Multinuclear Myocytes Forelimb Dorsal Muscles
- Multinuclear Myocytes Hindlimb Ventral Muscle
- Multinuclear Myocytes Forelimb Ventral Muscles
- Multinuclear Myocytes Hindlimb Dorsal Muscle
- Inner Cell Mass (Early Embryonic Tissues)
- NULL (Uncategorized)
-
Fibroblasts
- Cardiac Fibroblasts Myocardium
-
Pancreas (Endocrine System)
- Duct Cells Pancreatic Ducts
-
Epithelial Cells
- Duct Cells Pancreatic Ducts
- Gut Tube (Gastrointestinal Tract)
- Blood (Hematopoietic System)
- Umbilical Cord (Extraembryonic Tissues)
- Endoderm (Gastrulation Derivatives)
- Primitive Streak (Early Embryonic Tissues)
-
Amnion (Extraembryonic Tissues)
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).
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, MaxQB, and MOPED for ANKRD1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ANKRD1 Gene:
ANKRD1SOURCE GeneReport for Unigene cluster for ANKRD1 Gene:
Hs.448589mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for ANKRD1
-
OriGene qPCR primer pairs and template standards for ANKRD1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ANKRD1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | ANKRD1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ANKRD1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Ankrd1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ankrd1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ANKRD1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ANKRD1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ANKRD1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ANKRD1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ankrd1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ankrd1a 34 35 |
|
||
| ankrd1b 35 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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)
Paralogs for ANKRD1 Gene
Variants for ANKRD1 Gene
| SNP ID | Clin | Chr 10 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs142354133 | Uncertain significance, Total anomalous pulmonary venous return (TAPVR) [MIM:106700] | 90,918,971(+) | GTTCC(A/G)TCTAA | reference, missense | |
| rs145387010 | Likely pathogenic | 90,918,950(+) | GAAAC(A/G)TAGGC | reference, missense | |
| rs786205461 | Likely pathogenic | 90,915,602(-) | TGAAC(C/T)GCTAT | reference, missense | |
| rs794728975 | Likely pathogenic | 90,912,966(-) | GAAGA(C/T)GCCGA | reference, missense | |
| rs10881855 | Likely benign | 90,921,172(+) | CTCCC(A/G)CCCCC | utr-variant-5-prime |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD1 Gene
Disorders for ANKRD1 Gene
(6) MalaCards diseases for ANKRD1 Gene - From: GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| total anomalous pulmonary venous return |
|
|
| familial isolated dilated cardiomyopathy |
|
|
| ankrd1-related dilated cardiomyopathy |
|
|
| diastolic heart failure |
|
|
| heart disease |
|
Search ANKRD1 in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for ANKRD1 Gene
Publications for ANKRD1 Gene
- 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 22 64
- 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 22 46 64
- 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 22 46 64
- Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID: 19608031) Arimura T. … Kimura A. (J. Am. Coll. Cardiol. 2009) 3 22 46 64
- 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 22 64
Products for ANKRD1 Gene
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- Cyagen custom Knockout/knockin (KOKI) mouse models for ANKRD1
- VectorBuilder custom plasmid, inducible vectors for ANKRD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ANKRD1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for ANKRD1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
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