Gene Gene information from NCBI Gene database.
Entrez ID 54596
Gene name LINE1 type transposase domain containing 1
Gene symbol L1TD1
Synonyms (NCBI Gene)
ECAT11
Chromosome 1
Chromosome location 1p31.3
miRNA miRNA information provided by mirtarbase database.
349
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 factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
NANOG Unknown 22162396
POU5F1 Unknown 22162396
SOX2 Unknown 22162396
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
621222 25595 ENSG00000240563
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 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
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 30529582
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 26159230, 31337362
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 26159230
★☆☆☆☆
Found in Text Mining only
Childhood Medulloblastoma Medulloblastoma BEFREE 26159230, 31337362
★☆☆☆☆
Found in Text Mining only
Chronic myeloproliferative disorder Myeloproliferative disorder BEFREE 29066347
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 31337362
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer GWASCAT_DG 30529582
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms GWASCAT_DG 30529582
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 31337362 Associate
★☆☆☆☆
Found in Text Mining only
Gastritis Gastritis LHGDN 18842996
★☆☆☆☆
Found in Text Mining only