TRPT1 Gene (Protein Coding)

TRNA Phosphotransferase 1

GC11M064223
GIFtS:
36

Aliases for TRPT1 Gene

Aliases for TRPT1 Gene

  • TRNA Phosphotransferase 1 2 3 5
  • TRNA Splicing 2' Phosphotransferase 1 2 3
  • TRNA 2'-Phosphotransferase 1 3 4
  • EC 2.7.1.160 4

External Ids for TRPT1 Gene

Previous GeneCards Identifiers for TRPT1 Gene

  • GC00U911626
  • GC11M063748
  • GC11M063991
  • GC11M060319

Summaries for TRPT1 Gene

GeneCards Summary for TRPT1 Gene

TRPT1 (TRNA Phosphotransferase 1) is a Protein Coding gene. Diseases associated with TRPT1 include Leukocyte Adhesion Deficiency, Type Iii. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and tRNA 2'-phosphotransferase activity.

UniProtKB/Swiss-Prot Summary for TRPT1 Gene

  • Catalyzes the last step of tRNA splicing, the transfer of the splice junction 2'-phosphate from ligated tRNA to NAD to produce ADP-ribose 1''-2'' cyclic phosphate.

Gene Wiki entry for TRPT1 Gene

Additional gene information for TRPT1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRPT1 Gene

Genomics for TRPT1 Gene

GeneHancer (GH) Regulatory Elements for TRPT1 Gene

Promoters and enhancers for TRPT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRPT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TRPT1 gene promoter:
  • CP2
  • ER-alpha
  • NF-kappaB1
  • Pax-5
  • SEF-1 (1)

Genomic Locations for TRPT1 Gene

Genomic Locations for TRPT1 Gene
chr11:64,223,799-64,226,254
(GRCh38/hg38)
Size:
2,456 bases
Orientation:
Minus strand
chr11:63,991,271-63,993,726
(GRCh37/hg19)
Size:
2,456 bases
Orientation:
Minus strand

Genomic View for TRPT1 Gene

Genes around TRPT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRPT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRPT1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TRPT1 Gene

Proteins for TRPT1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for TRPT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86TN4-TRPT1_HUMAN
    Recommended name:
    tRNA 2'-phosphotransferase 1
    Protein Accession:
    Q86TN4
    Secondary Accessions:
    • A8MU17
    • A8MYC9
    • F5H2B2
    • Q9BSB9

    Protein attributes for TRPT1 Gene

    Size:
    253 amino acids
    Molecular mass:
    27742 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TRPT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRPT1 Gene

Protein Expression for TRPT1 Gene

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

Post-translational modifications for TRPT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TRPT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TRPT1 Gene

Domains & Families for TRPT1 Gene

Gene Families for TRPT1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for TRPT1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TRPT1 Gene

GenScript: Design optimal peptide antigens:
  • tRNA 2'-phosphotransferase 1 (TRPT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86TN4

UniProtKB/Swiss-Prot:

TRPT1_HUMAN :
  • Belongs to the KptA/TPT1 family.
Family:
  • Belongs to the KptA/TPT1 family.
genes like me logo Genes that share domains with TRPT1: view

Function for TRPT1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for TRPT1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the last step of tRNA splicing, the transfer of the splice junction 2'-phosphate from ligated tRNA to NAD to produce ADP-ribose 1''-2'' cyclic phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2'-phospho-[ligated tRNA] + NAD(+) = ADP-D-ribose 1'',2''-cyclic phosphate + mature tRNA + nicotinamide; Xref=Rhea:RHEA:23324, Rhea:RHEA-COMP:11106, Rhea:RHEA-COMP:11107, ChEBI:CHEBI:17154, ChEBI:CHEBI:57540, ChEBI:CHEBI:76596, ChEBI:CHEBI:82883, ChEBI:CHEBI:85027; EC=2.7.1.160;.

Enzyme Numbers (IUBMB) for TRPT1 Gene

Phenotypes From GWAS Catalog for TRPT1 Gene

Gene Ontology (GO) - Molecular Function for TRPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000215 tRNA 2'-phosphotransferase activity IEA --
GO:0003674 molecular_function ND --
GO:0016740 transferase activity IEA --
GO:0016772 transferase activity, transferring phosphorus-containing groups IEA --
genes like me logo Genes that share ontologies with TRPT1: view
genes like me logo Genes that share phenotypes with TRPT1: view

Animal Models for TRPT1 Gene

MGI Knock Outs for TRPT1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TRPT1 Gene

Localization for TRPT1 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 TRPT1 gene
Compartment Confidence
mitochondrion 2
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TRPT1 Gene

Pathways & Interactions for TRPT1 Gene

PathCards logo

SuperPathways for TRPT1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TRPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006388 tRNA splicing, via endonucleolytic cleavage and ligation IEA --
GO:0008033 tRNA processing IEA --
GO:0008150 biological_process ND --
GO:0045859 regulation of protein kinase activity IEA --
genes like me logo Genes that share ontologies with TRPT1: view

No data available for Pathways by source and SIGNOR curated interactions for TRPT1 Gene

Drugs & Compounds for TRPT1 Gene

Products:

  1. Drug

(3) Drugs for TRPT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nicotinamide Approved, Investigational Pharma 519,519
Water Approved Pharma 0
NAD Experimental Pharma Full agonist, Agonist, Activator 0

(1) Additional Compounds for TRPT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
cis-4-decenoic acid
  • 2'-Phosphoadenosine 5'-[3-(D-ribofuranosyl) dihydrogen diphosphate]
  • ADP-D-Ribose 2'-phosphate
  • ADPribose 2'-phosphate
 26303-90-2, 57602-94-5
genes like me logo Genes that share compounds with TRPT1: view

Transcripts for TRPT1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TRPT1 Gene

(7) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(153) Selected AceView cDNA sequences:
(16) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TRPT1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d
SP1: - -
SP2: - - -
SP3: - - - -
SP4: - -
SP5: - - - -
SP6: - - -
SP7:
SP8: - - -
SP9: -
SP10:
SP11:

Relevant External Links for TRPT1 Gene

GeneLoc Exon Structure for
TRPT1
ECgene alternative splicing isoforms for
TRPT1

Expression for TRPT1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TRPT1 Gene

mRNA expression in normal human tissues for TRPT1 Gene
mRNA expression by GTEx for TRPT1 GenemRNA expression by BioGPS for TRPT1 Gene

mRNA differential expression in normal tissues according to GTEx for TRPT1 Gene

This gene is overexpressed in Muscle - Skeletal (x4.3).

Protein differential expression in normal tissues from HIPED for TRPT1 Gene

This gene is overexpressed in Breast (29.3) and Lung (23.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TRPT1 Gene



NURSA nuclear receptor signaling pathways regulating expression of TRPT1 Gene:

TRPT1

SOURCE GeneReport for Unigene cluster for TRPT1 Gene:

Hs.326586

mRNA Expression by UniProt/SwissProt for TRPT1 Gene:

Q86TN4-TRPT1_HUMAN
Tissue specificity: Widely expressed. Weakly or not expressed in lung, spleen, small intestine and peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for TRPT1 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with TRPT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TRPT1 Gene

Orthologs for TRPT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TRPT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia TRPT1 33 32
  • 99.48 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia TRPT1 33 32
  • 87.22 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia TRPT1 33 32
  • 87.22 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Trpt1 17 33 32
  • 84.95 (n)
rat
(Rattus norvegicus)
 Mammalia Trpt1 32
  • 84.75 (n)
oppossum
(Monodelphis domestica)
 Mammalia TRPT1 33
  • 71 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia TRPT1 33
  • 63 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia TRPT1 33
  • 64 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia trpt1 32
  • 59.36 (n)
zebrafish
(Danio rerio)
 Actinopterygii trpt1 33 32
  • 57.53 (n)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.2923 32
fruit fly
(Drosophila melanogaster)
 Insecta CG33057 33 32
  • 47.06 (n)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes TPT1 35 33
  • 33 (a)
thale cress
(Arabidopsis thaliana)
 eudicotyledons emb1067 32
  • 48.13 (n)
rice
(Oryza sativa)
 Liliopsida Os06g0134050 32
  • 49 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPAC2C4.12c 32
  • 48.64 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 40 (a)
 OneToMany
-- 33
  • 28 (a)
 OneToMany
Species where no ortholog for TRPT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TRPT1 Gene

ENSEMBL:
Gene Tree for TRPT1 (if available)
TreeFam:
Gene Tree for TRPT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRPT1: view image

Paralogs for TRPT1 Gene

No data available for Paralogs for TRPT1 Gene

Variants for TRPT1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for TRPT1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1337201735 uncertain-significance, Leukocyte adhesion deficiency, type III 64,223,341(-) A/G downstream_transcript_variant
rs142025489 uncertain-significance, likely-benign, not provided, Leukocyte adhesion deficiency, type III 64,223,393(-) C/G/T downstream_transcript_variant
rs150686744 benign, not specified, Leukocyte adhesion deficiency, type III 64,223,417(-) G/A/T downstream_transcript_variant
rs1565299599 uncertain-significance, Leukocyte adhesion deficiency, type III 64,223,395(-) G/T downstream_transcript_variant
rs778780064 uncertain-significance, Leukocyte adhesion deficiency, type III 64,223,424(-) C/T downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TRPT1 Gene

Variant ID Type Subtype PubMed ID
dgv1963n54 CNV loss 21841781
esv992196 CNV deletion 20482838
nsv1159904 CNV deletion 26073780
nsv469961 CNV loss 18288195
nsv555184 CNV loss 21841781
nsv555187 CNV loss 21841781
nsv832186 CNV loss 17160897
nsv951010 CNV deletion 24416366

Variation tolerance for TRPT1 Gene

Residual Variation Intolerance Score: 72.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.29; 81.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRPT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRPT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRPT1 Gene

Disorders for TRPT1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TRPT1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
leukocyte adhesion deficiency, type iii
  • lad3
- elite association - COSMIC cancer census association via MalaCards
Search TRPT1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TRPT1

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TRPT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TRPT1 Gene

Publications for TRPT1 Gene

  1. A human homolog of the yeast gene encoding tRNA 2'-phosphotransferase: cloning, characterization and complementation analysis. (PMID: 14504659) Hu QD … Li YY (Cellular and molecular life sciences : CMLS 2003) 2 3 4 56
  2. Genome-wide association study of the child behavior checklist dysregulation profile. (PMID: 21784300) Mick E … Faraone SV (Journal of the American Academy of Child and Adolescent Psychiatry 2011) 3 43 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  5. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 56

ExternalLinks

View latest publications for TRPT1 gene in Mastermind

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