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ANKRD1 (ankyrin repeat domain 1)

Identity

Alias_namesankyrin repeat domain 1 (cardiac muscle)
Alias_symbol (synonym)C-193
ALRP
CARP
CVARP
MCARP
Other aliasbA320F15.2
HGNC (Hugo) ANKRD1
LocusID (NCBI) 27063
Atlas_Id 50102
Location 10q23.31  [Link to chromosome band 10q23]
Location_base_pair Starts at 90912100 and ends at 90921275 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ANKRD1 (10q23.31) / ATP8B5P (9p13.3)ANKRD1 (10q23.31) / CAV1 (7q31.2)ANKRD1 (10q23.31) / MTATP6P1 ()

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)ANKRD1   15819
LRG (Locus Reference Genomic)LRG_379
Cards
Entrez_Gene (NCBI)ANKRD1  27063  ankyrin repeat domain 1
AliasesALRP; C-193; CARP; CVARP; 
MCARP; bA320F15.2
GeneCards (Weizmann)ANKRD1
Ensembl hg19 (Hinxton)ENSG00000148677 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000148677 [Gene_View]  ENSG00000148677 [Sequence]  chr10:90912100-90921275 [Contig_View]  ANKRD1 [Vega]
ICGC DataPortalENSG00000148677
TCGA cBioPortalANKRD1
AceView (NCBI)ANKRD1
Genatlas (Paris)ANKRD1
WikiGenes27063
SOURCE (Princeton)ANKRD1
Genetics Home Reference (NIH)ANKRD1
Genomic and cartography
GoldenPath hg38 (UCSC)ANKRD1  -     chr10:90912100-90921275 -  10q23.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ANKRD1  -     10q23.31   [Description]    (hg19-Feb_2009)
GoldenPathANKRD1 - 10q23.31 [CytoView hg19]  ANKRD1 - 10q23.31 [CytoView hg38]
ImmunoBaseENSG00000148677
Mapping of homologs : NCBIANKRD1 [Mapview hg19]  ANKRD1 [Mapview hg38]
OMIM609599   
Gene and transcription
Genbank (Entrez)AK290960 AU139209 AY903446 BC005191 BC018667
RefSeq transcript (Entrez)NM_014391
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ANKRD1
Cluster EST : UnigeneHs.448589 [ NCBI ]
CGAP (NCI)Hs.448589
Alternative Splicing GalleryENSG00000148677
Gene ExpressionANKRD1 [ NCBI-GEO ]   ANKRD1 [ EBI - ARRAY_EXPRESS ]   ANKRD1 [ SEEK ]   ANKRD1 [ MEM ]
Gene Expression Viewer (FireBrowse)ANKRD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27063
GTEX Portal (Tissue expression)ANKRD1
Human Protein AtlasENSG00000148677-ANKRD1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15327   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15327  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15327
Splice isoforms : SwissVarQ15327
PhosPhoSitePlusQ15327
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    Ankyrin_rpt-contain_sf   
Domain families : Pfam (Sanger)Ank_2 (PF12796)   
Domain families : Pfam (NCBI)pfam12796   
Domain families : Smart (EMBL)ANK (SM00248)  
Conserved Domain (NCBI)ANKRD1
DMDM Disease mutations27063
Blocks (Seattle)ANKRD1
SuperfamilyQ15327
Human Protein Atlas [tissue]ENSG00000148677-ANKRD1 [tissue]
Peptide AtlasQ15327
HPRD10647
IPIIPI00004294   
Protein Interaction databases
DIP (DOE-UCLA)Q15327
IntAct (EBI)Q15327
FunCoupENSG00000148677
BioGRIDANKRD1
STRING (EMBL)ANKRD1
ZODIACANKRD1
Ontologies - Pathways
QuickGOQ15327
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  RNA polymerase II transcription factor binding  fibrillar center  p53 binding  DNA binding  transcription coactivator activity  transcription corepressor activity  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytosol  regulation of transcription by RNA polymerase II  skeletal muscle tissue development  positive regulation of neuron projection development  regulation of lipid metabolic process  titin binding  titin binding  I band  I band  response to muscle stretch  histone deacetylase binding  positive regulation of apoptotic process  positive regulation of DNA damage response, signal transduction by p53 class mediator  sarcomere organization  positive regulation of protein secretion  cardiac muscle tissue morphogenesis  RNA polymerase II sequence-specific DNA-binding transcription factor binding  R-SMAD binding  cellular response to lipopolysaccharide  cellular response to mechanical stimulus  cellular response to interleukin-1  cellular response to tumor necrosis factor  cellular response to organic cyclic compound  cellular response to hypoxia  cellular response to transforming growth factor beta stimulus  positive regulation of nucleic acid-templated transcription  negative regulation of DNA biosynthetic process  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  RNA polymerase II transcription factor binding  fibrillar center  p53 binding  DNA binding  transcription coactivator activity  transcription corepressor activity  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytosol  regulation of transcription by RNA polymerase II  skeletal muscle tissue development  positive regulation of neuron projection development  regulation of lipid metabolic process  titin binding  titin binding  I band  I band  response to muscle stretch  histone deacetylase binding  positive regulation of apoptotic process  positive regulation of DNA damage response, signal transduction by p53 class mediator  sarcomere organization  positive regulation of protein secretion  cardiac muscle tissue morphogenesis  RNA polymerase II sequence-specific DNA-binding transcription factor binding  R-SMAD binding  cellular response to lipopolysaccharide  cellular response to mechanical stimulus  cellular response to interleukin-1  cellular response to tumor necrosis factor  cellular response to organic cyclic compound  cellular response to hypoxia  cellular response to transforming growth factor beta stimulus  positive regulation of nucleic acid-templated transcription  negative regulation of DNA biosynthetic process  
NDEx NetworkANKRD1
Atlas of Cancer Signalling NetworkANKRD1
Wikipedia pathwaysANKRD1
Orthology - Evolution
OrthoDB27063
GeneTree (enSembl)ENSG00000148677
Phylogenetic Trees/Animal Genes : TreeFamANKRD1
HOGENOMQ15327
Homologs : HomoloGeneANKRD1
Homology/Alignments : Family Browser (UCSC)ANKRD1
Gene fusions - Rearrangements
Fusion : QuiverANKRD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANKRD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANKRD1
dbVarANKRD1
ClinVarANKRD1
1000_GenomesANKRD1 
Exome Variant ServerANKRD1
ExAC (Exome Aggregation Consortium)ENSG00000148677
GNOMAD BrowserENSG00000148677
Varsome BrowserANKRD1
Genetic variants : HAPMAP27063
Genomic Variants (DGV)ANKRD1 [DGVbeta]
DECIPHERANKRD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisANKRD1 
Mutations
ICGC Data PortalANKRD1 
TCGA Data PortalANKRD1 
Broad Tumor PortalANKRD1
OASIS PortalANKRD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICANKRD1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DANKRD1
Mutations and Diseases : HGMDANKRD1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ANKRD1
DgiDB (Drug Gene Interaction Database)ANKRD1
DoCM (Curated mutations)ANKRD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ANKRD1 (select a term)
intoGenANKRD1
Cancer3DANKRD1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609599   
Orphanet635   
DisGeNETANKRD1
MedgenANKRD1
Genetic Testing Registry ANKRD1
NextProtQ15327 [Medical]
TSGene27063
GENETestsANKRD1
Target ValidationANKRD1
Huge Navigator ANKRD1 [HugePedia]
snp3D : Map Gene to Disease27063
BioCentury BCIQANKRD1
ClinGenANKRD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27063
Chemical/Pharm GKB GenePA134882768
Clinical trialANKRD1
Miscellaneous
canSAR (ICR)ANKRD1 (select the gene name)
DataMed IndexANKRD1
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineANKRD1
EVEXANKRD1
GoPubMedANKRD1
iHOPANKRD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 26 17:58:57 CEST 2019
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