Aliases for ANKLE1 Gene

Aliases for ANKLE1 Gene

  • Ankyrin Repeat And LEM Domain Containing 1 2 3 5
  • Ankyrin Repeat And LEM Domain-Containing Protein 1 3 4
  • 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
  • EC 3.1.-.- 4
  • 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
  • GC19P020465
  • GC19P020606
  • GC19P017713
  • GC19P018283
  • GC19P018685
  • GC19P018991
  • GC19P019313
  • GC19P019648
  • GC19P020005
  • GC19P020321

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. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. An important paralog of this gene is LEMD3.

UniProtKB/Swiss-Prot Summary for ANKLE1 Gene

  • Endonuclease that probably plays a role in the DNA damage response and DNA repair.

Additional gene information for ANKLE1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKLE1 Gene

Genomics for ANKLE1 Gene

GeneHancer (GH) Regulatory Elements for ANKLE1 Gene

Promoters and enhancers for ANKLE1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKLE1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKLE1 gene promoter:
  • CREB
  • deltaCREB
  • ER-alpha
  • LyF-1
  • MyoD
  • Pax-2
  • Pax-2a
  • Pax-4a
  • YY1

Genomic Locations for ANKLE1 Gene

Genomic Locations for ANKLE1 Gene
chr19:17,281,645-17,287,646
(GRCh38/hg38)
Size:
6,002 bases
Orientation:
Plus strand
chr19:17,392,454-17,398,455
(GRCh37/hg19)
Size:
6,002 bases
Orientation:
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:
    Q8NAG6-ANKL1_HUMAN
    Recommended name:
    Ankyrin repeat and LEM domain-containing protein 1
    Protein Accession:
    Q8NAG6
    Secondary Accessions:
    • A8VU82
    • Q8N8J8

    Protein attributes for ANKLE1 Gene

    Size:
    615 amino acids
    Molecular mass:
    66890 Da
    Quaternary structure:
    • Interacts (via LEM domain) with BANF1; the interaction may favor BANF1 dimerization.
    SequenceCaution:
    • Sequence=BAC04840.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ANKLE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKLE1 Gene

Post-translational modifications for ANKLE1 Gene

  • Ubiquitination at Lys368
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANKLE1 Gene

Domains & Families for ANKLE1 Gene

Gene Families for ANKLE1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ANKLE1 Gene

GenScript: Design optimal peptide antigens:
  • ANKLE1 protein (A0JLW0_HUMAN)
  • LEM-domain containing protein 3 (ANKL1_HUMAN)
  • cDNA FLJ53264, highly similar to Ankyrin repeat domain-containing protein 41 (B4E124_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NAG6

UniProtKB/Swiss-Prot:

ANKL1_HUMAN :
  • The LEM domain is required for GIY-YIG domain-mediated DNA cleavage and induction of DNA damage response.
Domain:
  • The LEM domain is required for GIY-YIG domain-mediated DNA cleavage and induction of DNA damage response.
genes like me logo Genes that share domains with ANKLE1: view

Function for ANKLE1 Gene

Molecular function for ANKLE1 Gene

UniProtKB/Swiss-Prot Function:
Endonuclease that probably plays a role in the DNA damage response and DNA repair.

Enzyme Numbers (IUBMB) for ANKLE1 Gene

Phenotypes From GWAS Catalog for ANKLE1 Gene

Gene Ontology (GO) - Molecular Function for ANKLE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004519 endonuclease activity IDA 22399800
GO:0005515 protein binding IPI 22399800
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ANKLE1: view
genes like me logo Genes that share phenotypes with ANKLE1: view

Animal Models for ANKLE1 Gene

MGI Knock Outs for ANKLE1:
  • Ankle1 Ankle1<tm1(KOMP)Wtsi>
  • Ankle1 Ankle1<tm1.2(KOMP)Wtsi>
  • Ankle1 Ankle1<tm1.1(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKLE1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ANKLE1 Gene

Localization for ANKLE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKLE1 Gene

Cytoplasm. Nucleus. Note=At the steady state, localizes predominantly in the cytoplasm. {ECO:0000269 PubMed:22399800, ECO:0000269 PubMed:27245214}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANKLE1 gene
Compartment Confidence
nucleus 4
cytosol 2
plasma membrane 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANKLE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 colocalizes_with nucleus IMP 27245214
GO:0005737 cytoplasm IDA,IEA 22399800
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ANKLE1: view

Pathways & Interactions for ANKLE1 Gene

PathCards logo

SuperPathways for ANKLE1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKLE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006611 protein export from nucleus IMP 22399800
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0090305 nucleic acid phosphodiester bond hydrolysis IC 22399800
GO:2001022 positive regulation of response to DNA damage stimulus IDA 22399800
genes like me logo Genes that share ontologies with ANKLE1: view

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKLE1

Clone Products

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
SP1:
SP2: -
SP3: -
SP4:
SP5:

Relevant External Links for ANKLE1 Gene

GeneLoc Exon Structure for
ANKLE1
ECgene alternative splicing isoforms for
ANKLE1

Expression for ANKLE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for ANKLE1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANKLE1 Gene:

ANKLE1

SOURCE GeneReport for Unigene cluster for ANKLE1 Gene:

Hs.721610

mRNA Expression by UniProt/SwissProt for ANKLE1 Gene:

Q8NAG6-ANKL1_HUMAN
Tissue specificity: Expression is predominant in adult bone marrow.
genes like me logo Genes that share expression patterns with ANKLE1: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ANKLE1 33 32
  • 98.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKLE1 33 32
  • 77.23 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKLE1 33 32
  • 76.65 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankle1 32
  • 65.82 (n)
mouse
(Mus musculus)
Mammalia Ankle1 17 33 32
  • 64.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ANKLE1 33
  • 52 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANKLE1 33
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKLE1 33
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKLE1 33
  • 36 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ANKLE1 33
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42391 33
  • 30 (a)
OneToMany
CG8679 33
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 32 (a)
OneToOne
Species where no ortholog for ANKLE1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for ANKLE1 (if available)
TreeFam:
Gene Tree for ANKLE1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANKLE1: view image

Paralogs for ANKLE1 Gene

Paralogs for ANKLE1 Gene

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

Variants for ANKLE1 Gene

Sequence variations from dbSNP and Humsavar for ANKLE1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs371454519 benign, not specified 17,286,684(+) G/T 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs758109052 benign, not specified 17,286,689(+) TGTTTGT/TGT/TGTTTGTTTGT 3_prime_UTR_variant, coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1000116851 -- 17,281,438(+) C/T upstream_transcript_variant
rs1000797636 -- 17,281,804(+) C/T upstream_transcript_variant
rs1000890879 -- 17,281,967(+) G/A coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv2661731 CNV deletion 23128226
esv2674696 CNV deletion 23128226
esv3643816 CNV loss 21293372
nsv470129 CNV loss 18288195
nsv515965 CNV loss 19592680
nsv578740 CNV loss 21841781

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)

Additional Variant Information for ANKLE1 Gene

Human Gene Mutation Database (HGMD)
ANKLE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKLE1

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: HGMD and DISEASES

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

Additional Disease Information for ANKLE1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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. Nucleo-cytoplasmic shuttling of the endonuclease ankyrin repeats and LEM domain-containing protein 1 (Ankle1) is mediated by canonical nuclear export- and nuclear import signals. (PMID: 27245214) Zlopasa L … Foisner R (BMC cell biology 2016) 3 4 56
  2. The endonuclease Ankle1 requires its LEM and GIY-YIG motifs for DNA cleavage in vivo. (PMID: 22399800) Brachner A … Foisner R (Journal of cell science 2012) 3 4 56
  3. 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 AC … Couch FJ (Nature genetics 2010) 3 43 56
  4. Common variants at 19p13 are associated with susceptibility to ovarian cancer. (PMID: 20852633) Bolton KL … Gayther SA (Nature genetics 2010) 3 43 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for ANKLE1 Gene

Sources for ANKLE1 Gene