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ANKLE1 (ankyrin repeat and LEM domain containing 1)

Identity

Other aliasANKRD41
LEM3
LEMD6
HGNC (Hugo) ANKLE1
LocusID (NCBI) 126549
Atlas_Id 56679
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 17281645 and ends at 17287646 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MGA (15q15.1) / ANKLE1 (19p13.11)

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)ANKLE1   26812
Cards
Entrez_Gene (NCBI)ANKLE1  126549  ankyrin repeat and LEM domain containing 1
AliasesANKRD41; LEM3; LEMD6
GeneCards (Weizmann)ANKLE1
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr19:17281645-17287646 [Contig_View]  ANKLE1 [Vega]
TCGA cBioPortalANKLE1
AceView (NCBI)ANKLE1
Genatlas (Paris)ANKLE1
WikiGenes126549
SOURCE (Princeton)ANKLE1
Genetics Home Reference (NIH)ANKLE1
Genomic and cartography
GoldenPath hg38 (UCSC)ANKLE1  -     chr19:17281645-17287646 +  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ANKLE1  -     19p13.11   [Description]    (hg19-Feb_2009)
EnsemblANKLE1 - 19p13.11 [CytoView hg19]  ANKLE1 - 19p13.11 [CytoView hg38]
Mapping of homologs : NCBIANKLE1 [Mapview hg19]  ANKLE1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK092706 AK096688 AK299977 AK303628 BC119015
RefSeq transcript (Entrez)NM_001278443 NM_001278444 NM_001278445 NM_152363
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ANKLE1
Cluster EST : UnigeneHs.721610 [ NCBI ]
CGAP (NCI)Hs.721610
Gene ExpressionANKLE1 [ NCBI-GEO ]   ANKLE1 [ EBI - ARRAY_EXPRESS ]   ANKLE1 [ SEEK ]   ANKLE1 [ MEM ]
Gene Expression Viewer (FireBrowse)ANKLE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)126549
GTEX Portal (Tissue expression)ANKLE1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NAG6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NAG6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NAG6
Splice isoforms : SwissVarQ8NAG6
PhosPhoSitePlusQ8NAG6
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    GIY_YIG (PS50164)    LEM (PS50954)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    GIY-YIG_SF    LEM/LEM-like_dom    LEM_dom   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    LEM (PF03020)   
Domain families : Pfam (NCBI)pfam12796    pfam03020   
Domain families : Smart (EMBL)ANK (SM00248)  
Conserved Domain (NCBI)ANKLE1
DMDM Disease mutations126549
Blocks (Seattle)ANKLE1
SuperfamilyQ8NAG6
Peptide AtlasQ8NAG6
IPIIPI00892517   IPI00910324   IPI00910207   IPI00892658   
Protein Interaction databases
DIP (DOE-UCLA)Q8NAG6
IntAct (EBI)Q8NAG6
BioGRIDANKLE1
STRING (EMBL)ANKLE1
ZODIACANKLE1
Ontologies - Pathways
QuickGOQ8NAG6
Ontology : AmiGOendonuclease activity  protein binding  nucleus  nucleus  integral component of nuclear inner membrane  cytoplasm  DNA repair  protein export from nucleus  protein export from nucleus  nuclear envelope organization  chromatin DNA binding  negative regulation of mitotic recombination  meiotic attachment of telomere to nuclear envelope  nucleic acid phosphodiester bond hydrolysis  regulation of myeloid progenitor cell differentiation  regulation of lymphoid progenitor cell differentiation  positive regulation of response to DNA damage stimulus  
Ontology : EGO-EBIendonuclease activity  protein binding  nucleus  nucleus  integral component of nuclear inner membrane  cytoplasm  DNA repair  protein export from nucleus  protein export from nucleus  nuclear envelope organization  chromatin DNA binding  negative regulation of mitotic recombination  meiotic attachment of telomere to nuclear envelope  nucleic acid phosphodiester bond hydrolysis  regulation of myeloid progenitor cell differentiation  regulation of lymphoid progenitor cell differentiation  positive regulation of response to DNA damage stimulus  
NDEx NetworkANKLE1
Atlas of Cancer Signalling NetworkANKLE1
Wikipedia pathwaysANKLE1
Orthology - Evolution
OrthoDB126549
Phylogenetic Trees/Animal Genes : TreeFamANKLE1
HOVERGENQ8NAG6
HOGENOMQ8NAG6
Homologs : HomoloGeneANKLE1
Homology/Alignments : Family Browser (UCSC)ANKLE1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANKLE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANKLE1
dbVarANKLE1
ClinVarANKLE1
1000_GenomesANKLE1 
Exome Variant ServerANKLE1
ExAC (Exome Aggregation Consortium)ANKLE1 (select the gene name)
Genetic variants : HAPMAP126549
Genomic Variants (DGV)ANKLE1 [DGVbeta]
DECIPHERANKLE1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisANKLE1 
Mutations
ICGC Data PortalANKLE1 
TCGA Data PortalANKLE1 
Broad Tumor PortalANKLE1
OASIS PortalANKLE1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICANKLE1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDANKLE1
BioMutasearch ANKLE1
DgiDB (Drug Gene Interaction Database)ANKLE1
DoCM (Curated mutations)ANKLE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ANKLE1 (select a term)
intoGenANKLE1
Cancer3DANKLE1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenANKLE1
Genetic Testing Registry ANKLE1
NextProtQ8NAG6 [Medical]
TSGene126549
GENETestsANKLE1
Target ValidationANKLE1
Huge Navigator ANKLE1 [HugePedia]
snp3D : Map Gene to Disease126549
BioCentury BCIQANKLE1
ClinGenANKLE1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD126549
Chemical/Pharm GKB GenePA162376509
Clinical trialANKLE1
Miscellaneous
canSAR (ICR)ANKLE1 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineANKLE1
EVEXANKLE1
GoPubMedANKLE1
iHOPANKLE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:54:58 CEST 2017

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