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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
  • Ankyrin Repeat And LEM Domain-Containing Protein 1 3
  • 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
  • GC19P017713
  • GC19P018283
  • GC19P018685
  • GC19P018991
  • GC19P019313

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.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for ANKLE1 Gene

Genomics for ANKLE1 Gene

GeneHancer (GH) Regulatory Elements for ANKLE1 Gene

Promoters and enhancers for ANKLE1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I017281 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 557.9 +0.4 435 2.1 ARID4B SIN3A ZNF2 ZNF48 TCF12 ZNF121 ARID2 ZNF143 ATF7 RUNX3 ANKLE1 USHBP1 MRPL34 OCEL1 ABHD8 BABAM1 ENSG00000269307
GH19I017333 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.9 +52.6 52616 2.4 FEZF1 IRF4 YY1 ZNF213 ZNF416 ZNF143 SP3 NFYC MEF2D ZNF610 GTPBP3 ANO8 CHERP IQCN C19orf44 ENSG00000267904 ENSG00000268743 ENSG00000268087 MRPL34 ENSG00000269578
GH19I017336 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 6.6 +55.7 55711 2.5 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 GTPBP3 CHERP ENSG00000269578 ENSG00000268743 IQCN COLGALT1 C19orf44 SIN3B HAUS8 MVB12A
GH19I017239 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 5.4 -36.6 -36629 10.4 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 NR2F6 GC19M017243 CHERP ENSG00000267904 MVB12A GTPBP3 C19orf44 ENSG00000268087 OCEL1 ENSG00000268743
GH19I017225 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 4.5 -54.8 -54832 2.8 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 POLR2B ZNF766 OCEL1 MVB12A PGLS ENSG00000269578 ENSG00000268087 COLGALT1 USE1 ANKLE1 GC19M017243
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANKLE1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKLE1 gene promoter:

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)

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

Other Protein References for ANKLE1 Gene

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

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,IEA 22399800
GO:0005515 protein binding IPI 22399800
GO:0016787 hydrolase activity IEA --
GO:0031490 chromatin DNA binding IBA --
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:

Animal Model Products

Inhibitory RNA 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

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:0005639 integral component of nuclear inner membrane IBA --
GO:0005737 cytoplasm IEA,IDA 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

SuperPathways for ANKLE1 Gene

No Data Available

Interacting Proteins for ANKLE1 Gene

Selected Interacting proteins: Q8NAG6-ANKL1_HUMAN for ANKLE1 Gene via IID

Symbol External ID(s) Details
EMD

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:0006998 nuclear envelope organization IBA --
GO:0070197 meiotic attachment of telomere to nuclear envelope IBA --
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

Unigene Clusters for ANKLE1 Gene

Ankyrin repeat and LEM domain containing 1:
Representative Sequences:

Inhibitory RNA 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

Primer Products

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 34
  • 98.7 (n)
dog
(Canis familiaris)
Mammalia ANKLE1 33 34
  • 77.23 (n)
cow
(Bos Taurus)
Mammalia ANKLE1 33 34
  • 76.65 (n)
rat
(Rattus norvegicus)
Mammalia Ankle1 33
  • 65.82 (n)
mouse
(Mus musculus)
Mammalia Ankle1 33 16 34
  • 64.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ANKLE1 34
  • 52 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANKLE1 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKLE1 34
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKLE1 34
  • 36 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ANKLE1 34
  • 25 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42391 34
  • 30 (a)
OneToMany
CG8679 34
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

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 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
rs747914827 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 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_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
nsv578740 CNV loss 21841781
nsv515965 CNV loss 19592680
nsv470129 CNV loss 18288195
esv3643816 CNV loss 21293372
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)

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 58
  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 58
  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 44 58
  4. Common variants at 19p13 are associated with susceptibility to ovarian cancer. (PMID: 20852633) Bolton KL … Gayther SA (Nature genetics 2010) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ANKLE1 Gene

Sources for ANKLE1 Gene

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