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:0004519 Function Endonuclease activity IDA 22399800
GO:0005515 Function Protein binding IPI 22399800
GO:0005634 Component Nucleus IDA 22399800
GO:0005634 Component Nucleus IMP 27245214
GO:0005654 Component Nucleoplasm IDA
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
22976474, 20852631
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
29059683, 27117709, 22976474
Ovarian cancer Malignant neoplasm of ovary rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828
View all (31 more)
20852633
Triple negative breast neoplasms Triple Negative Breast Neoplasms rs80357691 24325915
Unknown
Disease term Disease name Evidence References Source
Tremor Tremor GWAS
Carcinoma Carcinoma GWAS
Associations from Text Mining
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