L1TD1 Gene (Protein Coding)

LINE1 Type Transposase Domain Containing 1

GC01P062194
GIFtS:
35
See more...

Aliases for L1TD1 Gene

Aliases for L1TD1 Gene

  • LINE1 Type Transposase Domain Containing 1 2 3 5
  • ECAT11 2 3 4
  • LINE-1 Type Transposase Domain-Containing Protein 1 3 4
  • ES Cell-Associated Protein 11 3 4
  • LINE-1 Type Transposase Domain Containing 1 3
  • FLJ10884 2
  • L1TD1 5

External Ids for L1TD1 Gene

Previous GeneCards Identifiers for L1TD1 Gene

  • GC01P062434
  • GC01P062660
  • GC01P060773

Summaries for L1TD1 Gene

GeneCards Summary for L1TD1 Gene

L1TD1 (LINE1 Type Transposase Domain Containing 1) is a Protein Coding gene. Diseases associated with L1TD1 include Testis Seminoma. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and obsolete signal transducer activity.

Additional gene information for L1TD1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for L1TD1 Gene

Genomics for L1TD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for L1TD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J062194 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 287.3 +2.2 2216 5.9 CEBPA ETS1 KDM6A THAP11 CEBPB ZNF623 SIN3A ZNF511 SMAD4 SAP130 L1TD1 PATJ ENSG00000237227 lnc-KANK4-2 KANK4
GH01J062192 Enhancer 0.3 Ensembl 277.6 -1.8 -1848 0.4 EGR2 L1TD1 lnc-L1TD1-1 PATJ
GH01J062179 Enhancer 0.9 ENCODE CraniofacialAtlas dbSUPER 23.8 -12.8 -12794 4.3 ETS1 ZNF217 CUX1 CTBP1 YY1 SMARCE1 DPF2 NFIB POU5F1 ZHX2 HSALNG0004053 piR-61846-001 L1TD1 KANK4 PATJ
GH01J062176 Enhancer 0.7 Ensembl ENCODE dbSUPER 22.7 -17.5 -17455 2 SCRT1 SP1 NANOG piR-39323-001 piR-31433-001 piR-40646-001 L1TD1 PATJ HSALNG0004053 lnc-L1TD1-7
GH01J062234 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 6.3 +41.6 41552 4 CEBPA HOMEZ KDM6A THAP11 CEBPB FOXA2 MAFF SMAD4 SAP130 EP300 hsa-miR-5095-022 L1TD1 lnc-L1TD1-3 KANK4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around L1TD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for L1TD1

Top Transcription factor binding sites by QIAGEN in the L1TD1 gene promoter:
  • HNF-4alpha1
  • HNF-4alpha2

Genomic Locations for L1TD1 Gene

Latest Assembly
chr1:62,194,849-62,212,328
(GRCh38/hg38)
Size:
17,480 bases
Orientation:
Plus strand

Previous Assembly
chr1:62,660,521-62,678,000
(GRCh37/hg19 by Entrez Gene)
Size:
17,480 bases
Orientation:
Plus strand

chr1:62,660,503-62,678,000
(GRCh37/hg19 by Ensembl)
Size:
17,498 bases
Orientation:
Plus strand

Genomic View for L1TD1 Gene

Genes around L1TD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
L1TD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for L1TD1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for L1TD1 Gene

Proteins for L1TD1 Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for L1TD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T7N2-LITD1_HUMAN
    Recommended name:
    LINE-1 type transposase domain-containing protein 1
    Protein Accession:
    Q5T7N2
    Secondary Accessions:
    • Q8NDA1
    • Q9NUV8
    • Q9NV78

    Protein attributes for L1TD1 Gene

    Size:
    865 amino acids
    Molecular mass:
    98850 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91878.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA91878.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for L1TD1 Gene

neXtProt entry for L1TD1 Gene

Protein Expression for L1TD1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for L1TD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for L1TD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for L1TD1
  • Boster Bio Antibodies for L1TD1

No data available for DME Specific Peptides for L1TD1 Gene

Domains & Families for L1TD1 Gene

Gene Families for L1TD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for L1TD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for L1TD1 Gene

GenScript: Design optimal peptide antigens:
  • ES cell-associated protein 11 (LITD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5T7N2

UniProtKB/Swiss-Prot:

LITD1_HUMAN :
  • Belongs to the transposase 22 family.
Family:
  • Belongs to the transposase 22 family.
genes like me logo Genes that share domains with L1TD1: view

Function for L1TD1 Gene

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  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Phenotypes From GWAS Catalog for L1TD1 Gene

Gene Ontology (GO) - Molecular Function for L1TD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003727 single-stranded RNA binding IBA 21873635
GO:0005515 protein binding IPI 25702638
genes like me logo Genes that share ontologies with L1TD1: view
genes like me logo Genes that share phenotypes with L1TD1: view

Animal Models for research

miRNA for L1TD1 Gene

miRTarBase miRNAs that target L1TD1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for L1TD1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for L1TD1 Gene

Localization for L1TD1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for L1TD1 gene
Compartment Confidence
nucleus 3
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for L1TD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:1990904 ribonucleoprotein complex IBA 21873635
genes like me logo Genes that share ontologies with L1TD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for L1TD1 Gene

Pathways & Interactions for L1TD1 Gene

PathCards logo

SuperPathways for L1TD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for L1TD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032197 transposition, RNA-mediated IBA 21873635
genes like me logo Genes that share ontologies with L1TD1: view

No data available for Pathways by source and SIGNOR curated interactions for L1TD1 Gene

Drugs & Compounds for L1TD1 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for L1TD1 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
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mRNA/cDNA for L1TD1 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for L1TD1

Alternative Splicing Database (ASD) splice patterns (SP) for L1TD1 Gene

No ASD Table

Relevant External Links for L1TD1 Gene

GeneLoc Exon Structure for
L1TD1

Expression for L1TD1 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for L1TD1 Gene

mRNA expression in normal human tissues for L1TD1 Gene
mRNA expression by GTEx for L1TD1 GenemRNA expression by BioGPS for L1TD1 Gene

mRNA differential expression in normal tissues according to GTEx for L1TD1 Gene

This gene is overexpressed in Testis (x12.1), Colon - Transverse (x10.7), and Nerve - Tibial (x4.3).

Protein differential expression in normal tissues from HIPED for L1TD1 Gene

This gene is overexpressed in Cervix (27.4), Prostate (12.3), Testis (10.5), and Plasma (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for L1TD1 Gene



Protein tissue co-expression partners for L1TD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for L1TD1

SOURCE GeneReport for Unigene cluster for L1TD1 Gene:

Hs.685462

Evidence on tissue expression from TISSUES for L1TD1 Gene

  • Lung(4.3)
  • Bone(3.6)
genes like me logo Genes that share expression patterns with L1TD1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for L1TD1 Gene

Orthologs for L1TD1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for L1TD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia L1TD1 30 31
  • 99.03 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia L1td1 31
  • 48 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 30 (a)
 OneToMany
-- 31
  • 30 (a)
 OneToMany
-- 31
  • 29 (a)
 OneToMany
-- 31
  • 29 (a)
 OneToMany
-- 31
  • 29 (a)
 OneToMany
-- 31
  • 29 (a)
 OneToMany
-- 31
  • 29 (a)
 OneToMany
-- 31
  • 28 (a)
 OneToMany
-- 31
  • 28 (a)
 OneToMany
-- 31
  • 28 (a)
 OneToMany
-- 31
  • 28 (a)
 OneToMany
-- 31
  • 28 (a)
 OneToMany
-- 31
  • 28 (a)
 OneToMany
-- 31
  • 27 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 26 (a)
 OneToMany
-- 31
  • 25 (a)
 OneToMany
-- 31
  • 25 (a)
 OneToMany
-- 31
  • 25 (a)
 OneToMany
-- 31
  • 24 (a)
 OneToMany
-- 31
  • 24 (a)
 OneToMany
-- 31
  • 22 (a)
 OneToMany
-- 31
  • 21 (a)
 OneToMany
-- 31
  • 17 (a)
 OneToMany
-- 31
  • 15 (a)
 OneToMany
Species where no ortholog for L1TD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for L1TD1 Gene

ENSEMBL:
Gene Tree for L1TD1 (if available)
TreeFam:
Gene Tree for L1TD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for L1TD1: view image

Paralogs for L1TD1 Gene

(1) SIMAP similar genes for L1TD1 Gene using alignment to 1 proteins:

  • LITD1_HUMAN

Pseudogenes.org Pseudogenes for L1TD1 Gene

genes like me logo Genes that share paralogs with L1TD1: view

No data available for Paralogs for L1TD1 Gene

Variants for L1TD1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for L1TD1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs202029696 Benign: not provided 62,210,575(+) GAACT/G
NM_019079.5(L1TD1):c.1805_1808del (p.Leu602fs) 		FRAMESHIFT
rs11207933 - p.Pro549Thr
rs11207934 - p.Leu860Val
rs2457828 - p.Lys329Asn
rs2886644 - p.Thr613Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for L1TD1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for L1TD1 Gene

Variant ID Type Subtype PubMed ID
esv3577899 CNV loss 25503493
esv3893601 CNV loss 25118596
esv3893612 CNV loss 25118596

Variation tolerance for L1TD1 Gene

Gene Damage Index Score: 6.21; 76.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for L1TD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
L1TD1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for L1TD1 Gene

Disorders for L1TD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for L1TD1 Gene - From: COP

Disorder Aliases PubMed IDs
testis seminoma
  • seminoma of testis
- elite association - COSMIC cancer census association via MalaCards
Search L1TD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for L1TD1

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with L1TD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for L1TD1 Gene

Publications for L1TD1 Gene

  1. RNA-binding protein L1TD1 interacts with LIN28 via RNA and is required for human embryonic stem cell self-renewal and cancer cell proliferation. (PMID: 22162396) Närvä E … Lahesmaa R (Stem cells (Dayton, Ohio) 2012) 2 3
  2. L1TD1 is a marker for undifferentiated human embryonic stem cells. (PMID: 21559406) Wong RC … Donovan PJ (PloS one 2011) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. AMPK Interactome Reveals New Function in Non-homologous End Joining DNA Repair. (PMID: 31900314) Chen Z … Chen J (Molecular & cellular proteomics : MCP 2020) 3
  5. Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity. (PMID: 31753913) Kim JJ … Miller KM (Genes & development 2019) 3

ExternalLinks

View latest publications for L1TD1 gene in Mastermind

Products for L1TD1 Gene

Sources for L1TD1 Gene