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Aliases for ANKLE1 Gene

Aliases for ANKLE1 Gene

  • Ankyrin Repeat And LEM Domain Containing 1 2 3 5
  • Ankyrin Repeat Domain-Containing Protein 41 3 4
  • LEM Domain Containing 6 2 3
  • ANKRD41 3 4
  • LEM3 3 4
  • LEM-Domain Containing Protein 3 4
  • Ankyrin Repeat Domain 41 2
  • LEM-Domain Containing 3 3
  • LEMD6 3

External Ids for ANKLE1 Gene

Previous HGNC Symbols for ANKLE1 Gene

  • ANKRD41

Previous GeneCards Identifiers for ANKLE1 Gene

  • GC19P017255
  • GC19P017394
  • GC19P016959
  • GC19P017470
  • GC19P017901
  • GC19P017292
  • GC19P017687

Summaries for ANKLE1 Gene

GeneCards Summary for ANKLE1 Gene

ANKLE1 (Ankyrin Repeat And LEM Domain Containing 1) is a Protein Coding gene. Diseases associated with ANKLE1 include Patellofemoral Pain Syndrome. GO annotations related to this gene include oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKLE1 Gene

Genomics for ANKLE1 Gene

Regulatory Elements for ANKLE1 Gene

Enhancers for ANKLE1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ANKLE1 on UCSC Golden Path with GeneCards custom track

Promoters for ANKLE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ANKLE1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ANKLE1 Gene

17,281,645 bp from pter
17,287,646 bp from pter
6,002 bases
Plus strand

Genomic View for ANKLE1 Gene

Genes around ANKLE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKLE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKLE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKLE1 Gene

Proteins for ANKLE1 Gene

  • Protein details for ANKLE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ankyrin repeat and LEM domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • A8VU82
    • Q8N8J8

    Protein attributes for ANKLE1 Gene

    615 amino acids
    Molecular mass:
    66890 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAC04840.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ANKLE1 Gene


neXtProt entry for ANKLE1 Gene

Proteomics data for ANKLE1 Gene at MOPED

Post-translational modifications for ANKLE1 Gene

  • Ubiquitination at Lys 354
  • Modification sites at PhosphoSitePlus

Other Protein References for ANKLE1 Gene

No data available for DME Specific Peptides for ANKLE1 Gene

Domains & Families for ANKLE1 Gene

Protein Domains for ANKLE1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 GIY-YIG domain.
  • Contains 3 ANK repeats.
  • Contains 1 GIY-YIG domain.
  • Contains 1 LEM domain.
  • Contains 3 ANK repeats.
genes like me logo Genes that share domains with ANKLE1: view

Function for ANKLE1 Gene

genes like me logo Genes that share phenotypes with ANKLE1: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKLE1 Gene

Localization for ANKLE1 Gene

Subcellular locations from

Jensen Localization Image for ANKLE1 Gene COMPARTMENTS Subcellular localization image for ANKLE1 gene
Compartment Confidence
cytosol 2
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ANKLE1 Gene

Pathways & Interactions for ANKLE1 Gene

SuperPathways for ANKLE1 Gene

No Data Available

Interacting Proteins for ANKLE1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: ENSP00000377971 Q8NAG6-ANKL1_HUMAN for ANKLE1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for ANKLE1 Gene


No data available for Pathways by source and SIGNOR curated interactions for ANKLE1 Gene

Drugs & Compounds for ANKLE1 Gene

No Compound Related Data Available

Transcripts for ANKLE1 Gene

Unigene Clusters for ANKLE1 Gene

Ankyrin repeat and LEM domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ANKLE1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP2: -
SP3: -

Relevant External Links for ANKLE1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ANKLE1 Gene

mRNA expression in normal human tissues for ANKLE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANKLE1 Gene

This gene is overexpressed in Brain - Cerebellum (x4.9) and Brain - Cerebellar Hemisphere (x4.6).

Protein differential expression in normal tissues from HIPED for ANKLE1 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANKLE1 Gene

SOURCE GeneReport for Unigene cluster for ANKLE1 Gene Hs.721610

genes like me logo Genes that share expression patterns with ANKLE1: view

Protein tissue co-expression partners for ANKLE1 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ANKLE1 Gene

Orthologs for ANKLE1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKLE1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ANKLE1 35
  • 76.65 (n)
  • 69.58 (a)
  • 70 (a)
(Canis familiaris)
Mammalia ANKLE1 35
  • 77.23 (n)
  • 70.15 (a)
  • 67 (a)
(Mus musculus)
Mammalia Ankle1 35
  • 64.6 (n)
  • 64.03 (a)
Ankle1 16
Ankle1 36
  • 61 (a)
(Pan troglodytes)
Mammalia ANKLE1 35
  • 98.7 (n)
  • 97.16 (a)
  • 91 (a)
(Rattus norvegicus)
Mammalia Ankle1 35
  • 65.82 (n)
  • 63.28 (a)
(Monodelphis domestica)
Mammalia ANKLE1 36
  • 44 (a)
(Ornithorhynchus anatinus)
Mammalia ANKLE1 36
  • 52 (a)
(Gallus gallus)
Aves ANKLE1 36
  • 42 (a)
(Anolis carolinensis)
Reptilia ANKLE1 36
  • 36 (a)
(Danio rerio)
Actinopterygii ANKLE1 36
  • 25 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG42391 36
  • 30 (a)
CG8679 36
  • 22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
Species with no ortholog for ANKLE1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANKLE1 Gene

Gene Tree for ANKLE1 (if available)
Gene Tree for ANKLE1 (if available)

Paralogs for ANKLE1 Gene

No data available for Paralogs for ANKLE1 Gene

Variants for ANKLE1 Gene

Sequence variations from dbSNP and Humsavar for ANKLE1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs8108174 - 17,282,721(+) GGAGC(A/T)GCTGC nc-transcript-variant, reference, missense
rs2363956 - 17,283,315(+) TGGCT(G/T)GGAGG nc-transcript-variant, reference, missense
rs891017 - 17,283,695(+) CACCA(A/C)CCCCT nc-transcript-variant, reference, missense
rs11086065 - 17,284,194(+) TGAGC(A/G)GCCAG intron-variant, reference, missense
rs34112069 - 17,284,229(+) GGGTC(A/G)TGAAG intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ANKLE1 Gene

Variant ID Type Subtype PubMed ID
dgv3757n71 CNV Loss 21882294
dgv3758n71 CNV Loss 21882294
nsv911182 CNV Loss 21882294
nsv470129 CNV Loss 18288195
nsv911185 CNV Loss 21882294
nsv911186 CNV Gain 21882294
nsv911188 CNV Loss 21882294
dgv3759n71 CNV Loss 21882294
dgv3760n71 CNV Loss 21882294
nsv911198 CNV Loss 21882294
nsv911199 CNV Loss 21882294
nsv515965 CNV Loss 19592680
nsv911200 CNV Loss 21882294
esv2674696 CNV Deletion 23128226
esv2661731 CNV Deletion 23128226

Variation tolerance for ANKLE1 Gene

Residual Variation Intolerance Score: 99.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.80; 98.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANKLE1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKLE1 Gene

Disorders for ANKLE1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ANKLE1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
patellofemoral pain syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ANKLE1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ANKLE1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANKLE1 Gene

Publications for ANKLE1 Gene

  1. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. (PMID: 20852631) Antoniou A.C. … Couch F.J. (Nat. Genet. 2010) 3 48 67
  2. Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple negative breast cancer. (PMID: 24325915) Purrington K.S. … Couch F.J. (Carcinogenesis 2013) 3
  3. The endonuclease Ankle1 requires its LEM and GIY-YIG motifs for DNA cleavage in vivo. (PMID: 22399800) Brachner A. … Foisner R. (J. Cell. Sci. 2012) 3
  4. A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. (PMID: 22976474) Siddiq A. … Vachon C.M. (Hum. Mol. Genet. 2012) 3
  5. New genetic associations detected in a host response study to hepatitis B vaccine. (PMID: 20237496) Davila S. … Seielstad M. (Genes Immun. 2010) 3

Products for ANKLE1 Gene

Sources for ANKLE1 Gene