Aliases for ANKLE1 Gene
Aliases for ANKLE1 Gene
External Ids for ANKLE1 Gene
- HGNC: 26812
- Entrez Gene: 126549
- Ensembl: ENSG00000160117
- UniProtKB: Q8NAG6
Previous HGNC Symbols for ANKLE1 Gene
- ANKRD41
Previous GeneCards Identifiers for ANKLE1 Gene
- GC19P017255
- GC19P017394
- GC19P016959
- GC19P017470
- GC19P017901
- GC19P017292
- GC19P017687
- GC19P017713
- GC19P018283
- GC19P018685
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.
UniProtKB/Swiss-Prot for ANKLE1 Gene
-
Endonuclease that probably plays a role in the DNA damage response and DNA repair.
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
Regulatory Elements for ANKLE1 Gene
Regulatory Element Products
Genomic Location for ANKLE1 Gene
- Chromosome:
- 19
- Start:
- 17,281,645 bp from pter
- End:
- 17,287,646 bp from pter
- Size:
- 6,002 bases
- Orientation:
- Plus strand
Genomic View for ANKLE1 Gene
- Cytogenetic band:
-
- 19p13.11 by Ensembl
- 19p13.11 by Entrez Gene
- 19p13.11 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for ANKLE1 Gene
Post-translational modifications for ANKLE1 Gene
Other Protein References for ANKLE1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Protein Products
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Assay Products
No data available for DME Specific Peptides for ANKLE1 Gene
Domains & Families for ANKLE1 Gene
Gene Families for ANKLE1 Gene
Protein Domains for ANKLE1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ANKLE1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8NAG6UniProtKB/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.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004519 | endonuclease activity | IEA,IDA | 22399800 |
| GO:0005515 | protein binding | IPI | 22399800 |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0031490 | chromatin DNA binding | IBA | -- |
Phenotypes for ANKLE1 Gene
- MGI mutant phenotypes for ANKLE1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for ANKLE1:
Animal Models for ANKLE1 Gene
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miRNA for ANKLE1 Gene
- miRTarBase miRNAs that target ANKLE1
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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Flow Cytometry 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}.
| 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 | IDA,IEA | 22399800 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for ANKLE1 Gene
Interacting Proteins for ANKLE1 Gene
| Symbol | External ID(s) | Details |
|---|---|---|
| EMD |
| 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:0045950 | negative regulation of mitotic recombination | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for ANKLE1 Gene
Transcripts for ANKLE1 Gene
mRNA/cDNA for ANKLE1 Gene
- (4) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (26) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ANKLE1 Gene
CRISPR Products
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miRNA Products
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Inhibitory RNA Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||
| SP5: |
Expression for ANKLE1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
- Bone (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for ANKLE1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANKLE1 Gene
NURSA nuclear receptor signaling pathways regulating expression of ANKLE1 Gene:
ANKLE1SOURCE GeneReport for Unigene cluster for ANKLE1 Gene:
Hs.721610mRNA Expression by UniProt/SwissProt for ANKLE1 Gene:
Q8NAG6-ANKL1_HUMANPrimer Products
-
OriGene qPCR primer pairs for ANKLE1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ANKLE1 35 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ANKLE1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ANKLE1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ankle1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Ankle1 16 35 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ANKLE1 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ANKLE1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ANKLE1 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ANKLE1 35 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | ANKLE1 35 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG42391 35 |
|
OneToMany | |
| CG8679 35 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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)
Paralogs for ANKLE1 Gene
No data available for Paralogs for ANKLE1 Gene
Variants for ANKLE1 Gene
| SNP ID | Clin | Chr 19 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000116851 | -- | 17,281,438(+) | ACCCT(C/T)CTGCC | upstream-variant-2KB | |
| rs1000797636 | -- | 17,281,804(+) | CCCTG(C/T)TCGGC | nc-transcript-variant, reference, missense, utr-variant-5-prime | |
| rs1000890879 | -- | 17,281,967(+) | GCTGC(A/G)GGAGG | intron-variant, nc-transcript-variant, reference, missense | |
| rs1001081544 | -- | 17,284,685(+) | GCCTC(-/TT)TTTTT | intron-variant | |
| rs1001120053 | -- | 17,286,852(+) | CAGTC(C/T)GGTGC | nc-transcript-variant, utr-variant-3-prime |
| 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 |
Relevant External Links for ANKLE1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKLE1 Gene
Disorders for ANKLE1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| patellofemoral pain syndrome |
|
|
Relevant External Links for ANKLE1
No data available for UniProtKB/Swiss-Prot and Genatlas for ANKLE1 Gene
Publications for ANKLE1 Gene
- 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 Biol. 2016) 3 4 64
- 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 64
- 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 46 64
- Common variants at 19p13 are associated with susceptibility to ovarian cancer. (PMID: 20852633) Bolton K.L. … Gayther S.A. (Nat. Genet. 2010) 3 46 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for ANKLE1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
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- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
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- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
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- (60) miRBase
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- (62) NCBI
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- (66) TGDB
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