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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Uncertain significance rs201853418 RCV005927138
Associations from Text MiningDisease 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