Gene Gene information from NCBI Gene database.
Entrez ID 126549
Gene name Ankyrin repeat and LEM domain containing 1
Gene symbol ANKLE1
Synonyms (NCBI Gene)
ANKRD41LEM3LEMD6
Chromosome 19
Chromosome location 19p13.11
miRNA miRNA information provided by mirtarbase database.
716
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619348 26812 ENSG00000160117
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma GWASCAT_DG 22976474, 27117709, 29059683
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 28362817, 28957321, 29463814
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 20852631, 21844186, 23717510, 28957321, 33927264 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 20852633, 25173882 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular disease Pubtator 34927450 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 31509622
★☆☆☆☆
Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome Hereditary breast and ovarian cancer syndrome Pubtator 27601076 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer GWASDB_DG 20852631, 22976474
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 28362817, 28957321, 29463814
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of ovary Ovarian cancer GWASDB_DG 20852633
★☆☆☆☆
Found in Text Mining only