TKTL1 (transketolase like 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8277
Gene name Gene Name - the full gene name approved by the HGNC.
Transketolase like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TKTL1
Synonyms (NCBI Gene) Gene synonyms aliases
TKR, TKT2
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq28
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a transketolase that acts as a homodimer and catalyzes the conversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose 5-phosphate and D-xylulose 5-phosphate. This reaction links the pentose pho
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
miRTarBase ID miRNA Experiments Reference
MIRT017410 hsa-miR-335-5p Microarray 18185580
MIRT726322 hsa-miR-15a-5p HITS-CLIP 22473208
MIRT726321 hsa-miR-15b-5p HITS-CLIP 22473208
MIRT726320 hsa-miR-16-5p HITS-CLIP 22473208
MIRT726319 hsa-miR-195-5p HITS-CLIP 22473208
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0004802 Function Transketolase activity IBA
GO:0004802 Function Transketolase activity IEA
GO:0004802 Function Transketolase activity TAS 8838793
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300044 11835 ENSG00000007350
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P51854
Protein name Transketolase-like protein 1 (EC 2.2.1.1) (Transketolase 2) (TK 2) (Transketolase-related protein)
Protein function Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate. ; [Isoform 4]: During fetal neocortex de
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00456 Transketolase_N 23 → 87 Transketolase, thiamine diphosphate binding domain Domain
PF00456 Transketolase_N 83 → 249 Transketolase, thiamine diphosphate binding domain Domain
PF02779 Transket_pyr 287 → 453 Transketolase, pyrimidine binding domain Domain
PF02780 Transketolase_C 464 → 586 Transketolase, C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:8838793). Expressed in endothelial cells and in peripheral neurons (at protein level) (PubMed:15991799). {ECO:0000269|PubMed:15991799, ECO:0000269|PubMed:8838793}.; TISSUE SPECIFICITY: [Isoform 3]: Not expresse
Sequence 
MADAEARAEFPEEARPDRGTLQVLQDMASRLRIHSIRATCSTSSGHPTSCSSSSEIMSVL
FFYIMRYKQSDPENPDNDRFVLAKRLSFVDVATGWLGQGLGVACGMAYTGKYFDRASYRV
FCLMSDGESSEGSVWEAMAFASYYSLDNLVAIFDVNRLGHSGALPAEHCINIYQRRCEAF
GWNTYVVDGRDVEALCQVFWQASQVKHKPTAVVAKTFKGRGTPSIEDAESWHAKPMPRER
ADAIIKLIESQIQTSRNLDPQPPIEDSPEVNITDVRMTSPPDYRVGDKIATRKACGLALA
KLGYANNRVVVLDGDTRYSTFSEIFNKEYPERFIECFMAEQNMVSVALGCASRGRTIAFA
STFAAFLTRAFDHIRIGGLAESNINIIGSHCGVSVGDDGASQMALEDIAMFRTIPKCTIF
YPTDAVSTEHAVALAANAKGMCFIRTTRPETMVIYTPQERFEIGQAKVLRHCVSDKVTVI
GAGITVYEALAAADELSKQDIFIRVIDLFTIKPLDVATIVSSAKATEGRIITVEDHYPQG
GIGEAVCAAVSMDPDIQVHSLAVSGVPQSGKSEELLDMYGISARHIIVAVKCMLLN
Sequence length 596
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Pentose phosphate pathway
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
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
Schizophrenia Schizophrenia N/A N/A GWAS
Testicular Germ Cell Tumor Testicular germ cell tumor N/A N/A GWAS
Show/Hide Text Mining Associations (33)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Mucinous Stimulate 26650256
Azoospermia Nonobstructive Associate 36017582
Blast Crisis Inhibit 24390277
Breast Neoplasms Associate 19655166, 24304513
Carcinogenesis Associate 25048361, 40028213
Carcinoma Hepatocellular Associate 36362375
Carcinoma Intraductal Noninfiltrating Stimulate 19655166
Carcinoma Non Small Cell Lung Associate 37341056
Colonic Neoplasms Associate 16465194
Colorectal Neoplasms Associate 16465194, 21980427, 24193262, 26650256, 27546520, 32795237