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ANKHD1 (ankyrin repeat and KH domain containing 1)

Identity

Other namesMASK
VBARP
HGNC (Hugo) ANKHD1
LocusID (NCBI) 54882
Location 5q31.3
Location_base_pair Starts at 139781399 and ends at 139852062 bp from pter ( according to hg19-Feb_2009)
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)ANKHD1   24714
Entrez_Gene (NCBI)ANKHD1  54882  ankyrin repeat and KH domain containing 1
Cards
GeneCards (Weizmann)ANKHD1
Ensembl (Hinxton)ENSG00000131503 [Gene_View]  chr5:139781399-139852062 [Contig_View]  ANKHD1 [Vega]
AceView (NCBI)ANKHD1
Genatlas (Paris)ANKHD1
SOURCE (Stanford)NM_001197030 NM_017747 NM_017978 NM_024668
Genomic and cartography
GoldenPath (UCSC)ANKHD1  -  5q31.3   chr5:139781399-139852062 +  5q31.3   [Description]    (hg19-Feb_2009)
EnsemblANKHD1 - 5q31.3 [CytoView]
Mapping of homologs : NCBIANKHD1 [Mapview]
OMIM610500   
Gene and transcription
Genbank (Entrez)AF217646 AF258557 AF521882 AI675547 AI870943
RefSeq transcript (SRS)NM_001197030 NM_017747 NM_017978 NM_024668
RefSeq transcript (Entrez)NM_001197030 NM_017747 NM_017978 NM_024668
RefSeq genomic (SRS)AC_000137 NC_000005 NC_018916 NT_029289 NW_001838953 NW_004078025
RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NT_029289 NW_001838953 NW_004078025
Consensus coding sequences : CCDS (NCBI)ANKHD1
Cluster EST : UnigeneHs.594084 [ SRS ] Hs.594084 [ NCBI ]
CGAP (NCI)Hs.594084
Alternative Splicing : Fast-db (Paris)GSHG0024289
Alternative Splicing GalleryENSG00000131503
Gene ExpressionANKHD1 [ NCBI-GEO ]   ANKHD1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IWZ3 (SRS) Q8IWZ3 (Uniprot)
NextProtQ8IWZ3
With graphics : InterProQ8IWZ3
Splice isoforms : SwissVarQ8IWZ3(Swissvar)
Domaine pattern : Prosite (SRS)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    KH_TYPE_1 (PS50084)   
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    KH_TYPE_1 (PS50084)   
Domains : Interpro (SRS)Ankyrin_rpt    Ankyrin_rpt-contain_dom    KH_dom    KH_dom_type_1   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    KH_dom    KH_dom_type_1   
Related proteins : CluSTrQ8IWZ3
Domain families : Pfam (SRS)Ank (PF00023)    Ank_2 (PF12796)    KH_1 (PF00013)   
Domain families : Pfam (Sanger)Ank (PF00023)    Ank_2 (PF12796)    KH_1 (PF00013)   
Domain families : Pfam (NCBI)pfam00023    pfam12796    pfam00013   
Domain families : Smart (EMBL)ANK (SM00248)  KH (SM00322)  
DMDM54882
Blocks (Seattle)Q8IWZ3
Human Protein AtlasENSG00000131503
HPRD16489
Protein Interaction databases
DIP (DOE-UCLA)Q8IWZ3
IntAct (EBI)Q8IWZ3
FunCoupENSG00000131503
REACTOMEANKHD1
Protein Interaction Database54882
BioGRIDANKHD1
InParanoidQ8IWZ3
Interologous Interaction database Q8IWZ3
IntegromeDBANKHD1
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ANKHD1
SNP (GeneSNP Utah)ANKHD1
SNP : HGBaseANKHD1
Genetic variants : HAPMAPANKHD1
Somatic Mutations in Cancer : COSMICANKHD1 
CONAN: Copy Number AnalysisANKHD1 
Mutations and Diseases : HGMDANKHD1
OMIM610500   
GENETests610500   
Disease Genetic AssociationANKHD1
Huge Navigator ANKHD1 [HugePedia]  ANKHD1 [HugeCancerGEM]
Genomic VariantsANKHD1  ANKHD1 [DGVbeta]
ClinVarANKHD1
snp3D : Map Gene to Disease54882
General knowledge
Homologs : HomoloGeneANKHD1
Homology/Alignments : Family Browser (UCSC)ANKHD1
Phylogenetic Trees/Animal Genes : TreeFamANKHD1
Chemical/Protein Interactions : CTD54882
Chemical/Pharm GKB GenePA134947858
Clinical trialANKHD1
Cancer Resource (Charite)ENSG00000131503
Ontology : AmiGORNA binding  protein binding  nucleus  nucleolus  cytoplasm  
Ontology : EGO-EBIRNA binding  protein binding  nucleus  nucleolus  cytoplasm  
Other databases
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
PubGeneANKHD1
iHOPANKHD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 14 17:54:31 CEST 2013

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