Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
126549
Gene name Gene Name - the full gene name approved by the HGNC.
Ankyrin repeat and LEM domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ANKLE1
Synonyms (NCBI Gene) Gene synonyms aliases
ANKRD41, LEM3, LEMD6
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT606956 hsa-miR-8485 HITS-CLIP 19536157
MIRT606955 hsa-miR-329-3p HITS-CLIP 19536157
MIRT606954 hsa-miR-362-3p HITS-CLIP 19536157
MIRT606953 hsa-miR-3127-3p HITS-CLIP 19536157
MIRT606952 hsa-miR-6756-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000712 Process Resolution of meiotic recombination intermediates IBA
GO:0000724 Process Double-strand break repair via homologous recombination IBA
GO:0004518 Function Nuclease activity IEA
GO:0004519 Function Endonuclease activity IDA 22399800
GO:0004519 Function Endonuclease activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
619348 26812 ENSG00000160117
Protein
UniProt ID Q8NAG6
Protein name Ankyrin repeat and LEM domain-containing protein 1 (EC 3.1.-.-) (Ankyrin repeat domain-containing protein 41) (LEM-domain containing protein 3)
Protein function Endonuclease that probably plays a role in the DNA damage response and DNA repair.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 11 106 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 54 137 Ankyrin repeats (3 copies) Repeat
PF03020 LEM 357 394 LEM domain Domain
Tissue specificity TISSUE SPECIFICITY: Expression is predominant in adult bone marrow. {ECO:0000269|PubMed:22399800}.
Sequence
MCSEARLARRLRDALREEEPWAVEELLRCGADPNLVLEDGAAAVHLAAGARHPRGLRCLG
ALLRQGGDPNARSVEALTPLHVAAAWGCRRGLELLLSQGADPALRD
QDGLRPLDLALQQG
HLECARVLQDLDTRTRT
RTRIGAETQEPEPAPGTPGLSGPTDETLDSIALQKQPCRGDNR
DIGLEADPGPPSLPVPLETVDKHGSSASPPGHWDYSSDASFVTAVEVSGAEDPASDTPPW
AGSLPPTRQGLLHVVHANQRVPRSQGTEAELNARLQALTLTPPNAAGFQSSPSSMPLLDR
SPAHSPPRTPTPGASDCHCLWEHQTSIDSDMATLWLTEDEASSTGGREPVGPCRHLPVST
VSDLELLKGLRALGENPHPITPFTRQLYHQQLEE
AQIAPGPEFSGHSLELAAALRTGCIP
DVQADEDALAQQFEQPDPARRWREGVVKSSFTYLLLDPRETQDLPARAFSLTPAERLQTF
IRAIFYVGKGTRARPYVHLWEALGHHGRSRKQPHQACPKVRQILDIWASGCGVVSLHCFQ
HVVAVEAYTREACIVEALGIQTLTNQKQGHCYGVVAGWPPARRRRLGVHLLHRALLVFLA
EGERQLHPQDIQARG
Sequence length 615
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast cancer Breast cancer (estrogen-receptor negative), Breast cancer N/A N/A GWAS
Breast Cancer Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative), Breast Cancer in BRCA1 mutation carriers N/A N/A GWAS
Carcinoma Basal cell carcinoma N/A N/A GWAS
Tremor Essential tremor N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 35650630
Breast Neoplasms Associate 20852631, 21844186, 23717510, 28957321, 33927264
Carcinoma Ovarian Epithelial Associate 20852633, 25173882
Cardiovascular Diseases Associate 34927450
Hereditary Breast and Ovarian Cancer Syndrome Associate 27601076
Neoplasms Associate 35650630
Ovarian Neoplasms Associate 22235027, 23133607, 27601076
Triple Negative Breast Neoplasms Associate 21844186, 33927264