Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ANK1 (ankyrin 1, erythrocytic)

Identity

Other namesANK
SPH1
SPH2
HGNC (Hugo) ANK1
LocusID (NCBI) 286
Location 8p11.21
Location_base_pair Starts at 41510744 and ends at 41655140 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)ANK1   492
Cards
Entrez_Gene (NCBI)ANK1  286  ankyrin 1, erythrocytic
GeneCards (Weizmann)ANK1
Ensembl hg19 (Hinxton)ENSG00000029534 [Gene_View]  chr8:41510744-41655140 [Contig_View]  ANK1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000029534 [Gene_View]  chr8:41510744-41655140 [Contig_View]  ANK1 [Vega]
ICGC DataPortalENSG00000029534
cBioPortalANK1
AceView (NCBI)ANK1
Genatlas (Paris)ANK1
WikiGenes286
SOURCE (Princeton)ANK1
Genomic and cartography
GoldenPath hg19 (UCSC)ANK1  -     chr8:41510744-41655140 -  8p11.21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ANK1  -     8p11.21   [Description]    (hg38-Dec_2013)
EnsemblANK1 - 8p11.21 [CytoView hg19]  ANK1 - 8p11.21 [CytoView hg38]
Mapping of homologs : NCBIANK1 [Mapview hg19]  ANK1 [Mapview hg38]
OMIM182900   612641   
Gene and transcription
Genbank (Entrez)AA404587 AB209418 AI167814 AI684839 AK126647
RefSeq transcript (Entrez)NM_000037 NM_001142445 NM_001142446 NM_020475 NM_020476 NM_020477 NM_020478 NM_020479 NM_020480 NM_020481
RefSeq genomic (Entrez)AC_000140 NC_000008 NC_018919 NG_012820 NT_167187 NW_001839130 NW_004929337
Consensus coding sequences : CCDS (NCBI)ANK1
Cluster EST : UnigeneHs.708861 [ NCBI ]
CGAP (NCI)Hs.708861
Alternative Splicing : Fast-db (Paris)GSHG0029546
Alternative Splicing GalleryENSG00000029534
Gene ExpressionANK1 [ NCBI-GEO ]     ANK1 [ SEEK ]   ANK1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP16157 (Uniprot)
NextProtP16157  [Medical]
With graphics : InterProP16157
Splice isoforms : SwissVarP16157 (Swissvar)
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    DEATH_DOMAIN (PS50017)    ZU5 (PS51145)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    DEATH-like_dom    Death_domain    ZU5   
Related proteins : CluSTrP16157
Domain families : Pfam (Sanger)Ank (PF00023)    Death (PF00531)    ZU5 (PF00791)   
Domain families : Pfam (NCBI)pfam00023    pfam00531    pfam00791   
Domain families : Smart (EMBL)ANK (SM00248)  DEATH (SM00005)  ZU5 (SM00218)  
DMDM Disease mutations286
Blocks (Seattle)P16157
PDB (SRS)1N11    2YQF    2YVI    3F59    3KBT    3KBU    3UD1    3UD2   
PDB (PDBSum)1N11    2YQF    2YVI    3F59    3KBT    3KBU    3UD1    3UD2   
PDB (IMB)1N11    2YQF    2YVI    3F59    3KBT    3KBU    3UD1    3UD2   
PDB (RSDB)1N11    2YQF    2YVI    3F59    3KBT    3KBU    3UD1    3UD2   
Human Protein AtlasENSG00000029534
Peptide AtlasP16157
HPRD01693
IPIIPI00216697   IPI00744986   IPI00744846   IPI00747536   IPI00749301   IPI00748895   IPI00748439   IPI00748074   IPI00748154   IPI00007623   IPI00743884   IPI00646300   IPI00007625   IPI00748330   IPI00654646   IPI00297532   IPI00374973   IPI00745348   IPI00744895   IPI00744408   IPI00747552   IPI00984523   IPI00917882   IPI00182779   IPI00878241   IPI00449128   IPI00795357   IPI00980703   
Protein Interaction databases
DIP (DOE-UCLA)P16157
IntAct (EBI)P16157
FunCoupENSG00000029534
BioGRIDANK1
IntegromeDBANK1
STRING (EMBL)ANK1
Ontologies - Pathways
QuickGOP16157
Ontology : AmiGOstructural molecule activity  structural constituent of cytoskeleton  protein binding  nucleus  cytosol  cytoskeleton  plasma membrane  plasma membrane  porphyrin-containing compound biosynthetic process  exocytosis  ER to Golgi vesicle-mediated transport  cytoskeleton organization  signal transduction  axon guidance  cytoskeletal adaptor activity  cytoskeletal adaptor activity  positive regulation of organelle organization  spectrin-associated cytoskeleton  monovalent inorganic cation transport  basolateral plasma membrane  sarcoplasmic reticulum  enzyme binding  enzyme binding  Z disc  spectrin binding  spectrin binding  spectrin binding  axolemma  cortical cytoskeleton  M band  sarcolemma  maintenance of epithelial cell apical/basal polarity  postsynaptic membrane  erythrocyte development  ATPase binding  protein targeting to plasma membrane  
Ontology : EGO-EBIstructural molecule activity  structural constituent of cytoskeleton  protein binding  nucleus  cytosol  cytoskeleton  plasma membrane  plasma membrane  porphyrin-containing compound biosynthetic process  exocytosis  ER to Golgi vesicle-mediated transport  cytoskeleton organization  signal transduction  axon guidance  cytoskeletal adaptor activity  cytoskeletal adaptor activity  positive regulation of organelle organization  spectrin-associated cytoskeleton  monovalent inorganic cation transport  basolateral plasma membrane  sarcoplasmic reticulum  enzyme binding  enzyme binding  Z disc  spectrin binding  spectrin binding  spectrin binding  axolemma  cortical cytoskeleton  M band  sarcolemma  maintenance of epithelial cell apical/basal polarity  postsynaptic membrane  erythrocyte development  ATPase binding  protein targeting to plasma membrane  
Pathways : BIOCARTASynaptic Proteins at the Synaptic Junction [Genes]   
Pathways : KEGGProteoglycans in cancer   
Protein Interaction DatabaseANK1
DoCM (Curated mutations)ANK1
Wikipedia pathwaysANK1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerANK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANK1
dbVarANK1
ClinVarANK1
1000_GenomesANK1 
Exome Variant ServerANK1
SNP (GeneSNP Utah)ANK1
SNP : HGBaseANK1
Genetic variants : HAPMAPANK1
Genomic VariantsANK1  ANK1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000029534 
Somatic Mutations in Cancer : COSMICANK1 
CONAN: Copy Number AnalysisANK1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)8:41510744-41655140
Mutations and Diseases : HGMDANK1
OMIM182900    612641   
MedgenANK1
NextProtP16157 [Medical]
GENETestsANK1
Disease Genetic AssociationANK1
Huge Navigator ANK1 [HugePedia]  ANK1 [HugeCancerGEM]
snp3D : Map Gene to Disease286
DGIdb (Drug Gene Interaction db)ANK1
General knowledge
Homologs : HomoloGeneANK1
Homology/Alignments : Family Browser (UCSC)ANK1
Phylogenetic Trees/Animal Genes : TreeFamANK1
Chemical/Protein Interactions : CTD286
Chemical/Pharm GKB GenePA24798
Clinical trialANK1
Cancer Resource (Charite)ENSG00000029534
Other databases
Probes
Litterature
PubMed71 Pubmed reference(s) in Entrez
CoreMineANK1
GoPubMedANK1
iHOPANK1
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
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:07:09 CET 2014
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