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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ANKRD1 Gene

protein-coding   GIFtS: 56
GCID: GC10M092661

ankyrin repeat domain 1 (cardiac muscle)
 Explore 18 diseases affiliated with
ANKRD1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ANKRD1    

Aliases
for ANKRD1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Ankyrin Repeat Domain 1 (Cardiac Muscle)1 2     Cytokine-Inducible Gene C-193 Protein2 3
CARP1 2 3     Cytokine-Inducible Nuclear Protein2 3
ALRP1 2     Ankyrin Repeat Domain-Containing Protein 12
C-1931 2     BA320F15.21
CVARP1 2     Liver Ankyrin Repeat Domain 12
MCARP1 2     C1933
Cardiac Ankyrin Repeat Protein2 3     HA1A23

External Ids:    HGNC: 158191   Entrez Gene: 270632   Ensembl: ENSG000001486777   OMIM: 6095995   UniProtKB: Q153273   

Export aliases for ANKRD1 gene to outside databases

Previous GC identifers: GC10M092336 GC10M086300


Summaries
for ANKRD1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ANKRD1:
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)

UniProtKB/Swiss-Prot: ANKR1_HUMAN, Q15327
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

Gene Wiki entry for ANKRD1


Genomic Views
for ANKRD1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ANKRD1 gene promoter:
         TBP   Lmo2   IRF-1   AP-2gamma   Evi-1   GATA-6   E2F   E2F-1   IRF-7A   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ANKRD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ANKRD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANKRD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q23.31   Ensembl cytogenetic band:  10q23.31   HGNC cytogenetic band: 10q23.33

ANKRD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRD1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M092661:  view genomic region     (about GC identifiers)

Start:
 92,671,853 bp from pter      End:
 92,681,033 bp from pter
Size:
 9,181 bases      Orientation:
 minus strand

Proteins
for ANKRD1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ANKR1_HUMAN, Q15327 (See protein sequence)
Recommended Name: Ankyrin repeat domain-containing protein 1  
Size: 319 amino acids; 36252 Da
Subunit: Interacts with YBX1 (By similarity). Interacts with TTN/titin
Subcellular location: Nucleus
Secondary accessions: Q96LE7

Explore the universe of human proteins at neXtProt for ANKRD1: NX_Q15327

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15327

    • ANKRD1 Protein expression data from MOPED and PaxDb:    About this image 
    ANKRD1 Protein Expression
    REFSEQ proteins: NP_055206.2  
    ENSEMBL proteins: 
     ENSP00000360762  
    Reactome Protein details: Q15327
    Human Recombinant Protein Products for ANKRD1: 
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    OriGene Protein Over-expression Lysate: ANKRD1
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    Novus Biologicals ANKRD1 Protein
    Novus Biologicals ANKRD1 Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for ANKRD1
    Uscn Proteins for ANKRD1

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19608030
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IEA--
    GO:0005737cytoplasm IDA12054667
    GO:0005829cytosol IDA19608030

    ANKRD1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for ANKRD1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ANKRD1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q15327

    ProtoNet protein and cluster: Q15327

    1 Blocks protein family: IPB002110 Ankyrin repeat signature

    UniProtKB/Swiss-Prot: ANKR1_HUMAN, Q15327
    Similarity: Contains 5 ANK repeats


    Function
    for ANKRD1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ANKR1_HUMAN, Q15327
    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
    Induction: By TNF, IL1A/interleukin-1 alpha and parthenolide

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001085RNA polymerase II transcription factor binding IPI--
    GO:0001105RNA polymerase II transcription coactivator activity IDA--
    GO:0002039p53 binding IPI--
    GO:0003677DNA binding IDA7730328
    GO:0003714transcription corepressor activity TAS--
         
    ANKRD1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ANKRD1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Ankrd1):
     muscle 

    ANKRD1 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Ankrd1tm1Krc for ANKRD1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ANKRD1 

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate ANKRD1:
    hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmid: ANKRD1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ANKRD1 (see all 7)
    OriGene shRNA RFP: ANKRD1
    OriGene siRNA: ANKRD1
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
    Products:       
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    Pathways & Interactions
    for ANKRD1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    		Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)1.00
    		Fatty acid, triacylglycerol, and ketone body metabolism0.52
    		PPARA Activates Gene Expression0.74
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    3Expression of ANKRD1
    		Expression of ANKRD11.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/6        Reactome Pathways for ANKRD1 (see all 6)
        Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Metabolism
    PPARA Activates Gene Expression
    Expression of ANKRD1
    Fatty acid, triacylglycerol, and ketone body metabolism



    ANKRD1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ANKRD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/14 Interacting proteins for ANKRD1 (Q153273 ENSP000003607624) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYPNQ86TC93, ENSP000003517904I2D: score=2 STRING: ENSP00000351790
    CASQ2O149583, ENSP000002614484I2D: score=1 STRING: ENSP00000261448
    TTNQ8WZ423I2D: score=1 
    CARM1ENSP000003256904STRING: ENSP00000325690
    CHD9ENSP000003815224STRING: ENSP00000381522
    About this table

    Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0010976positive regulation of neuron projection development IEA--
    GO:0035690cellular response to drug IEA--
    GO:0035994response to muscle stretch IMP19608030

    ANKRD1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ANKRD1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ANKRD1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ANKRD1
    1 Novoseek chemical compound relationship for ANKRD1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    doxorubicin 17.1 2 16828759 (1), 9278441 (1)

    Search CenterWatch for drugs/clinical trials and news about ANKRD1 / ANKR1 

    Transcripts
    for ANKRD1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ANKRD1 gene: 
    NM_014391.2  

    Unigene Cluster for ANKRD1:

    Ankyrin repeat domain 1 (cardiac muscle)
    Hs.448589  [show with all ESTs]
    Unigene Representative Sequence: NM_014391
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000371697(uc001khe.1)

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate ANKRD1:
    hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmid: ANKRD1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ANKRD1 (see all 7)
    OriGene shRNA RFP: ANKRD1
    OriGene siRNA: ANKRD1
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    Sirion Biotech Custom design and validation of potent shRNA sequences against ANKRD1 
    Clone
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    Primer
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    Additional cDNA sequence: 

    AK290960.1 AY903446.1 BC005191.1 BC018667.1 X83703.1 

    9 DOTS entries:

    DT.411150  DT.95315889  DT.100655665  DT.102825281  DT.121245750  DT.121245861  DT.91844161  DT.91891123 
    DT.95156598 

    24/39 AceView cDNA sequences (see all 39):

    BM717593 NM_014391 CB145719 AA488072 BM674869 BE924898 BG943776 BX500748 
    BE924924 X83703 BF229066 Z36249 BE924910 AJ706787 BE925011 BF229054 
    BE924977 BM999077 BE924985 AL600131 AJ706786 BF856062 BE924899 AA486364 

    GeneLoc Exon Structure


    Expression
    for ANKRD1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ANKRD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGAATTGAA
    ANKRD1 Expression
    About this image

    ANKRD1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    10/19 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 19) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbForelimb Dorsal MusclesMultinuclear MyocytesSkeletal Muscle
    LimbForelimb Ventral MusclesMultinuclear MyocytesSkeletal Muscle
    LimbHindlimb Dorsal MuscleMultinuclear MyocytesSkeletal Muscle
    LimbHindlimb Ventral MuscleMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleAnterior Neck MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleCervical Back MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleLumbar Back MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleLumbar Vertebrae Column MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MusclePelvic MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MusclePosterior Neck MusclesMultinuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/12 LifeMap Cells (see all 12) 
    NameCategory
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)
    PureStem™ progenitor T36 (Embryonic Progenitor Cell)
    PureStem™ progenitor W10 (Embryonic Progenitor Cell)
    Line H7 (WA07) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Definitive endoderm-like cells (Generation of mesend...)
    Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)
    Definitive Endoderm (Generation of beta c...)
    DKK1-induced cells (Derivation of cardio...)
    Cardiomyocyte-like progenitor cells (Derivation of cardio...)

    See ANKRD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANKRD1

    SOURCE GeneReport for Unigene cluster: Hs.448589

    UniProtKB/Swiss-Prot: ANKR1_HUMAN, Q15327
    Tissue specificity: Mainly expressed in activated vascular endothelial cells. To a lower extent, also expressed in
    hepatoma cells

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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKRD1

    Orthologs
    for ANKRD1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for ANKRD1 gene from 3/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ANKRD11 ankyrin repeat domain 1 (cardiac muscle) 71.89(n)
    70.53(a)    		   378926  NM_204405.1  NP_989736.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ANKRD16
    		 --
    		 75(a)
    		 1 ↔ 1
    		 GL343219.1(707509-722600)
    zebrafish
    (Danio rerio)    		 Actinopterygii 570806362   -- 90.49(n)    57080636 


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

    Paralogs
    for ANKRD1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ANKRD1 gene
    ANKRD22  PSMD102  ANKRD232  
    6 SIMAP similar genes for ANKRD1 using alignment to 2 protein entries:     ANKR1_HUMAN (see all proteins):
    ANKRD23    ANKRD2    CDKN2D    PSMD10    DKFZp761E1322    MTPN

    ANKRD1 for paralogs           About GeneDecksing



    Genomic Variants
    for ANKRD1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/253 NCBI SNPs in ANKRD1 are shown (see all 253)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs111863621,2
    		H--86300530(+) GGGGTC/GTCTTT 1 -- ds50014Minor allele frequency- G:0.00NS EA 420
    rs111863631,2
    		C,H--86300698(+) gaaatC/Ttgcat 1 -- ds50015Minor allele frequency- T:0.00NS EA NA 422
    rs108818511,2
    		C,A,H--86300771(+) CATTTC/TTAATC 1 -- ds50015Minor allele frequency- T:0.00NS EA NA 422
    rs108818521,2
    		C,A--86300776(+) CTAATC/TTGCAA 1 -- ds50011Minor allele frequency- T:0.50NA 2
    rs669854121,2
    		C,F--86300816(+) CTCCTG/ATATAG 1 -- ds50012Minor allele frequency- A:0.50NA 4
    rs111863641,2
    		C,H--86300984(+) CAATTC/TTGCAT 1 -- ut31 ese34Minor allele frequency- T:0.00NS EA 420
    rs122194781,2
    		C,H--86301137(+) TCACAG/AAATCA 1 -- ut31 ese34Minor allele frequency- A:0.00NS EA 412
    rs122194891,2
    		H--86301222(+) CAGGAG/AAAAAG 1 -- ut31 ese3 trp34Minor allele frequency- A:0.00NS EA 406
    rs171023301,2
    		C,F,H--86301271(+) ATGAGC/TGAATG 1 -- ut31 ese310Minor allele frequency- T:0.01NA NS 942
    rs412869201,2
    		--86301294(+) GCACTT/CGAACT 1 -- ut311Minor allele frequency- C:0.01NA 120

    HapMap Linkage Disequilibrium report for ANKRD1 (92671853 - 92681033 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ANKRD1: --
    Human Gene Mutation Database (HGMD): ANKRD1

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for ANKRD1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ANKRD1 for disorders           About GeneDecksing

    OMIM gene information: 609599    OMIM disorders: --

    UniProtKB/Swiss-Prot: ANKR1_HUMAN, Q15327
  • Defects in ANKRD1 may be a cause of total anomalous pulmonary venous return (TAPVR) [MIM:106700]. TAPVR is a
    • 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

    18 diseases for ANKRD1:    About MalaCards
    diastolic heart failure    muscular dystrophy    amyotrophic lateral sclerosis    congenital muscular dystrophy
    scimitar syndrome    atrial fibrillation    lateral sclerosis    hypertrophic cardiomyopathy
    dilated cardiomyopathy    lupus nephritis    nephritis    cardiomyopathy
    paralysis    proteinuria    ovarian cancer    blindness
    cholesterol    hypoxia

    1 disease from the University of Copenhagen DISEASES database for ANKRD1:
    Scimitar syndrome

    4 Novoseek disease relationships for ANKRD1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cardiac hypertrophy 40.3 3 14499857 (1), 12004005 (1)
    heart failure 40.2 13 19359327 (4), 14499857 (1), 16828759 (1), 19525294 (1) (see all 5)
    hypertrophy 38.3 6 15136035 (2), 14499857 (1), 12384280 (1)
    muscular dystrophies 37.5 4 12746480 (1), 17239933 (1)

    Human Genome Epidemiology (HuGE) Navigator: ANKRD1 (6 documents)

    Export disorders for ANKRD1 gene to outside databases

    Publications
    for ANKRD1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ANKRD1 gene, integrated from 9 sources (see all 57):
    (articles sorted by number of sources associating them with ANKRD1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a novel cytokine-inducible nuclear protein from human endothelial cells. (PubMed id 7730328)1, 2, 3, 9 Chu W.... Presky D.H. (1995)
    2. Identification of the genes involved in enhanced fenretinide-induced apoptosis by parthenolide in human hepatoma cells. (PubMed id 15805281)1, 2, 9 Park J.-H.... Kim D.-G. (2005)
    3. Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return. (PubMed id 18273862)1, 2 Cinquetti R.... Acquati F. (2008)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    6. The muscle ankyrin repeat proteins: CARP, ankrd2/Arpp and DARP as a family of titin filament-based stress response molecules. (PubMed id 14583192)1, 2 Miller M.K.... Labeit S. (2003)
    7. Cardiac ankyrin repeat protein gene (ANKRD1) mutation s in hypertrophic cardiomyopathy. (PubMed id 19608031)1, 9 Arimura T....Kimura A. (2009)
    8. Cardiac ankyrin repeat protein (CARP) expression in human and murine atherosclerotic lesions: activin induces CARP in smooth muscle cells. (PubMed id 12524226)1, 9 de Waard V....de Vries C.J. (2003)
    9. ANKRD1, the gene encoding cardiac ankyrin repeat prot ein, is a novel dilated cardiomyopathy gene. (PubMed id 19608030)1, 9 Moulik M....Towbin J.A. (2009)
    10. Mutations in the ANKRD1 gene encoding CARP are respon sible for human dilated cardiomyopathy. (PubMed id 19525294)1, 9 Duboscq-Bidot L....Villard E. (2009)

    External Searches for ANKRD1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ANKRD1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 27063 HGNC: 15819 AceView: ANKRD1 Ensembl:ENSG00000148677 euGenes: HUgn27063
    ECgene: ANKRD1 H-InvDB: ANKRD1

    Other Databases showing ANKRD1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ANKRD1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ANKRD1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ANKRD1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ANKRD1 gene:
    Search GeneIP for patents involving ANKRD1

    GeneCards and IP:
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