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FLASH GENE
Symbol ANKRD1 contributors: SGE/npt - updated : 29-06-2009
HGNC name ankyrin repeat domain 1 (cardiac muscle)
HGNC id 15819
Location 10q23.31      Physical location : 92.671.856 - 92.681.032
Synonym name
  • cardiac ankyrin repeat protein
  • cytokine inducible nuclear protein
  • Synonym symbol(s) C-193, ALRP, CARP, CVARP, MCARP
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 9.10 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    Physical map
    ACTA2 10q22.3-q23.1 actin, alpha 2, smooth muscle, aorta TNFRSF6 10q24.1 tumor necrosis factor receptor superfamily, member 6 CH25H 10q23 cholesterol 25-hydroxylase LIPA 10q23.2-q23.3 lipase A, lysosomal acid, cholesterol esterase (Wolman disease) IFIT2 10q23.3 interferon-induced protein with tetratricopeptide repeats 2 IFIT4 10q23.3 interferon-induced protein with tetratricopeptide repeats 4 LOC389994 10 similar to Interferon-induced protein with tetratricopeptide repeats 1 (IFIT-1) (Interferon-induced 56 kDa protein) (IFI-56K) LOC387699 10 similar to Interferon-induced protein with tetratricopeptide repeats 1 IFIT1 10q25-q26 interferon-induced protein with tetratricopeptide repeats 1 IFIT5 10q23.3 interferon-induced protein with tetratricopeptide repeats 5 LOC387700 10 similar to expressed sequence AW210596 PANK1 10q22.3-q23 pantothenate kinase 1 FLJ37201 10q23.32 hypothetical protein FLJ37201 MPHOSPH1 10q23.33 M-phase phosphoprotein 1 LOC119358 10q23.32 similar to Small nuclear ribonucleoprotein Sm D2 (snRNP core protein D2) (Sm-D2) HTR7 10q22-q24 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) RPP30 10q23.32-q23.33 ribonuclease P (30kD) ANKRD1 10q23.33 ankyrin repeat domain 1 (cardiac muscle) LOC387701 10 LOC387701 MGC34007 10q23.33 hypothetical protein MGC34007 MGC16202 10q23.33 hypothetical protein MGC16202 FLJ37306 10q23.32 hypothetical protein FLJ37306 LOC387702 10 similar to hypothetical protein FLJ25224 PPP1R3C 10q23-q24 protein phosphatase 1, regulatory (inhibitor) subunit 3C LOC389995 10 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) TNKS2 10q23.3 tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 C10orf13 10q23.33 chromosome 10 open reading frame 13 BTAF1 10q22-q23 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) CPEB3 10q23.33 cytoplasmic polyadenylation element binding protein 3 FLJ20445 10q23.33 hypothetical protein FLJ20445 LOC389996 10 similar to MAP/microtubule affinity-regulating kinase 2 isoform a; ELKL motif kinase 1; ELKL motif kinase IDE 10q24 insulin-degrading enzyme KIF11 10q24.1 kinesin family member 11 LOC283014 10q23.33 similar to eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa; eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD ); eukaryotic initiation factor 2-beta HHEX 10q24 hematopoietically expressed homeobox
    RNA
    TRANSCRIPTS type messenger
    text multiple ATTTA sequences are found in the 3'UTR and are implicated in the rapid turn-over of the mRNA
  • can exist in multiple isoforms (ANKRD1i8, intron 8 retained, and ANKRD1i7-8) which may contribute to the functional diversity of ANKRD1 in heart development and disease (Torrado 2009)
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1994 36.2 319 - Cinquetti (2008)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessels    
    Digestiveliver    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/lining   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a nuclear localisation signal KKRKK (NLS)
  • four tandem repeats of ankyrin-like sequence
  • multiples consensus protein phosphorylation sites (both tyrosine and serine-threonine types)
  • HOMOLOGY
    interspecies homolog to murine Ankrd1 (90.3pc)
    homolog to rattus Ankrd1 (90.9pc)
    Homologene
    FAMILY
  • ankyrin family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text
  • muscle specific protein
  • basic FUNCTION
  • may play an important role in endothelial cell activation
  • negative regulator of cardiac gene expression, playing a role in the pathogenesis of heart failure
  • stress-inducible myofibrillar protein (Torrado 2009)
  • its induction seems to be correlated with apoptotic cell death in hepatoma cells
  • is involved in inhibition of vascular lesion formation (de Waard 2003)
  • involved in transcriptional regulation and myofibrillar assembly
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • interacting with YBX1, TTN/titin
  • cell & other
    REGULATION
    induced by IL1, TNF-alpha and parthenolide
    Other short-lived protein whose levels are tightly reguated by 26S proteasome (Badi 2009)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    is expressed in the majority of ovarian adenocarcinomas and higher tumor levels of ANKRD1 are found in patients with worse outcome (Scutt 2008)
    constitutional     --over  
    up-regulated in some muscle diseases including muscular dystrophy and myopathy (Matsuura 2007)
    constitutional     --over  
    tended to be induced in cases exhibiting nephrotic syndrome, and may be correlated with the severity of proteinuria in lupus nephritis (Matsuura 2007)
    Susceptibility
    Variant & Polymorphism
    Candidate gene for total anomalous pulmonary venous return (TAPVR2)
    Marker
    Therapy target
    ANIMAL & CELL MODELS