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TKTL1 transketolase like 1 [ Homo sapiens (human) ]

Gene ID: 8277, updated on 14-Jun-2020

Summary

Official Symbol
TKTL1provided by HGNC
Official Full Name
transketolase like 1provided by HGNC
Primary source
HGNC:HGNC:11835
See related
Ensembl:ENSG00000007350 MIM:300044
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TKR; TKT2
Summary
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 phosphate pathway with the glycolytic pathway. Variations in this gene may be the cause of Wernicke-Korsakoff syndrome. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
Expression
Restricted expression toward testis (RPKM 88.4) See more
Orthologs

Genomic context

See TKTL1 in Genome Data Viewer
Location:
Xq28
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (154295795..154330350)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153523979..153558713)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene opsin 1, medium wave sensitive 3 Neighboring gene testis expressed 28 Neighboring gene uncharacterized LOC105373386 Neighboring gene Xq28 proximal FLNA-EMD recombination region Neighboring gene filamin A

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
NHGRI GWA Catalog
Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
thiamine pyrophosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transketolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
glucose catabolic process TAS
Traceable Author Statement
more info
PubMed 
thiamine metabolic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transketolase-like protein 1
Names
TK 2
transketolase-2
transketolase-related protein
NP_001139405.1
NP_001139406.1
NP_036385.3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028264.1 RefSeqGene

    Range
    5122..39674
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145933.2NP_001139405.1  transketolase-like protein 1 isoform b

    See identical proteins and their annotated locations for NP_001139405.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. This results in a shorter protein (isoform b) compared to isoform a.
    Source sequence(s)
    AK302044, BG718121, DB524246
    UniProtKB/TrEMBL
    B7Z7I0
    Conserved Domains (4) summary
    cd07033
    Location:287442
    TPP_PYR_DXS_TK_like; Pyrimidine (PYR) binding domain of 1-deoxy-D-xylulose-5-phosphate synthase (DXS), transketolase (TK), and related proteins
    PRK05899
    Location:17588
    PRK05899; transketolase; Reviewed
    pfam02780
    Location:458580
    Transketolase_C; Transketolase, C-terminal domain
    cl01629
    Location:30239
    TPP_enzymes; Thiamine pyrophosphate (TPP) enzyme family, TPP-binding module; found in many key metabolic enzymes which use TPP (also known as thiamine diphosphate) as a cofactor. These enzymes include, among others, the E1 components of the pyruvate, the acetoin and ...
  2. NM_001145934.2NP_001139406.1  transketolase-like protein 1 isoform c

    See identical proteins and their annotated locations for NP_001139406.1

    Status: REVIEWED

    Source sequence(s)
    AC245140
    Consensus CDS
    CCDS55541.1
    UniProtKB/Swiss-Prot
    P51854
    Related
    ENSP00000358928.2, ENST00000369912.2
    Conserved Domains (4) summary
    cd07033
    Location:237392
    TPP_PYR_DXS_TK_like; Pyrimidine (PYR) binding domain of 1-deoxy-D-xylulose-5-phosphate synthase (DXS), transketolase (TK), and related proteins
    PRK05899
    Location:1538
    PRK05899; transketolase; Reviewed
    pfam02780
    Location:408530
    Transketolase_C; Transketolase, C-terminal domain
    cl01629
    Location:1189
    TPP_enzymes; Thiamine pyrophosphate (TPP) enzyme family, TPP-binding module; found in many key metabolic enzymes which use TPP (also known as thiamine diphosphate) as a cofactor. These enzymes include, among others, the E1 components of the pyruvate, the acetoin and ...
  3. NM_012253.4NP_036385.3  transketolase-like protein 1 isoform a

    See identical proteins and their annotated locations for NP_036385.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AK292261, BG718121, DB524246
    Consensus CDS
    CCDS35448.1
    UniProtKB/Swiss-Prot
    P51854
    Related
    ENSP00000358931.3, ENST00000369915.8
    Conserved Domains (4) summary
    cd07033
    Location:293448
    TPP_PYR_DXS_TK_like; Pyrimidine (PYR) binding domain of 1-deoxy-D-xylulose-5-phosphate synthase (DXS), transketolase (TK), and related proteins
    PRK05899
    Location:17594
    PRK05899; transketolase; Reviewed
    pfam02780
    Location:464586
    Transketolase_C; Transketolase, C-terminal domain
    cl01629
    Location:30245
    TPP_enzymes; Thiamine pyrophosphate (TPP) enzyme family, TPP-binding module; found in many key metabolic enzymes which use TPP (also known as thiamine diphosphate) as a cofactor. These enzymes include, among others, the E1 components of the pyruvate, the acetoin and ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    154295795..154330350
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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