Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54596
Gene name Gene Name - the full gene name approved by the HGNC.
LINE1 type transposase domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
L1TD1
Synonyms (NCBI Gene) Gene synonyms aliases
ECAT11
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p31.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT035899 hsa-miR-1303 CLASH 23622248
MIRT1102584 hsa-miR-1193 CLIP-seq
MIRT1102585 hsa-miR-1208 CLIP-seq
MIRT1102586 hsa-miR-1976 CLIP-seq
MIRT1102587 hsa-miR-2392 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
NANOG Unknown 22162396
POU5F1 Unknown 22162396
SOX2 Unknown 22162396
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003727 Function Single-stranded RNA binding IBA
GO:0005515 Function Protein binding IPI 25702638, 30021884
GO:0032197 Process Retrotransposition IBA
GO:1990904 Component Ribonucleoprotein complex IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
621222 25595 ENSG00000240563
Protein
UniProt ID Q5T7N2
Protein name LINE-1 type transposase domain-containing protein 1 (ES cell-associated protein 11)
PDB 2LR6 , 3SOO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17490 Tnp_22_dsRBD 251 315 L1 transposable element dsRBD-like domain Domain
PF02994 Transposase_22 699 795 L1 transposable element RBD-like domain Domain
PF17490 Tnp_22_dsRBD 798 862 L1 transposable element dsRBD-like domain Domain
Sequence
MSDVSTSVQSKFARLAKKKENITYMKREQLTETDKDIAPVLDLKCKDVSAIMNKFKVLME
IQDLMFEEMRETLKNDLKAVLGGKATIPEVKNSENSSSRTEFQQIINLALQKTGMVGKIE
GENSKIGDDNENLTFKLEVNELSGKLDNTNEYNSNDGKKLPQGESRSYEVMGSMEETLCN
IDDRDGNRNVHLEFTERESRKDGEDEFVKEMREERKFQKLKNKEEVLKASREEKVLMDEG
AVLTLVADLSSATLDISKQWSNVFNILRENDFEPKFLCEVKLAFKCDGEIKTFSDLQSLR
KFASQKSSVKELLKD
VLPQKEEINQGGRKYGIQEKRDKTLIDSKHRAGEITSDGLSFLFL
KEVKVAKPEEMKNLETQEEEFSELEELDEEASGMEDDEDTSGLEEEEEEPSGLEEEEEEE
ASGLEEDEASGLEEEEEQTSEQDSTFQGHTLVDAKHEVEITSDGMETTFIDSVEDSESEE
EEEGKSSETGKVKTTSLTEKKASRRQKEIPFSYLVGDSGKKKLVKHQVVHKTQEEEETAV
PTSQGTGTPCLTLCLASPSKSLEMSHDEHKKHSHTNLSISTGVTKLKKTEEKKHRTLHTE
ELTSKEADLTEETEENLRSSVINSIREIKEEIGNLKSSHSGVLEIENSVDDLSSRMDILE
ERIDSLEDQIEEFSKDTMQMTKQIISKERQRDIEERSRSCNIRLIGIPEKESYENRAEDI
IKEIIDENFAELKKGSSLEIVSACRVPSKIDEKRLTPRHILVKFWNSSDKEKIIRASRER
REITYQGTRIRLTAD
LSLDTLDARSKWSNVFKVLLEKGFNPRILYPAKMAFDFRGKTKVF
LSIEEFRDYVLHMPTLRELLGN
NIP
Sequence length 865
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
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 30175151
Colorectal Neoplasms Associate 31337362
Medulloblastoma Associate 31337362
Neoplasms Associate 22162396, 30175151
Neuroblastoma Associate 32599975
Sarcoma Kaposi Associate 40016701
Seminoma Associate 22162396