TKTL1 - transketolase like 1 Gene

Also Known as TKR; TKT2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8277

About TKTL1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,295,795-154,330,350 (from NCBI)

This gene has 8 transcripts (splice variants), 97 orthologues and 4 paralogues. Restricted expression toward testis (RPKM 88.4).

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]

TKTL1 Products (3)

mRNA Protein Name
NM_001145933.2 NP_001139405.1 transketolase-like protein 1 isoform b
NM_001145934.2 NP_001139406.1 transketolase-like protein 1 isoform c
NM_012253.4 NP_036385.3 transketolase-like protein 1 isoform a

TKTL1 Protein Structure

Transketolase_N

Transketolase_N: Transketolase, thiamine diphosphate binding domain (25 - 84)

Transketolase_N

Transketolase_N: Transketolase, thiamine diphosphate binding domain (88 - 240)

Transket_pyr

Transket_pyr: Transketolase, pyrimidine binding domain (288 - 450)

Transketolase_C

Transketolase_C: Transketolase, C-terminal domain (468 - 586)

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  • 596 a.a.
Protein Preferred Names Protein Names

transketolase-like protein 1

  • TK 2

Related Diseases

Diseases Alias
Wernicke-Korsakoff Syndrome
  • Korsakoff Syndrome

  • Transketolase Defect

  • Korsakoff'S Syndrome

  • Alcohol-Induced Encephalopathy

  • Korsakoff'S Psychosis

  • Korsakov Psychosis

  • Korsakov'S Psychosis

  • Alcohol Induced Encephalopathy

  • Korsakoff Disease

  • Korsakoff Psychosis

Hypochondroplasia
  • HCH

  • Hypochondrodysplasia

  • Chondrogenesis Imperfecta

  • Hypochondroplastic Dwarfism

  • Hypochondroplastic Short Stature

Dry Beriberi
Thiamine Deficiency Disease
Conjunctival Nevus
  • Nevus Of Conjunctiva

Beriberi
  • Thiamine Deficiency

  • Vitamin B1 Deficiency

  • Aneurin Deficiency

  • Thiamine Vitamin Deficiency

  • Beriberi Nos

  • Beriberi Due To Vitamin B1 Deficiency

  • Beriberi Due To Thiamine Vitamin Deficiency

  • Kakkè

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus TKTL1 RGD RGD:1593490
Macaca mulatta TKTL1 VGNC VGNC:78363
Canis familiaris TKTL1 VGNC VGNC:47392
Bos taurus TKTL1 VGNC VGNC:35885
Felis catus TKTL1 VGNC VGNC:66204
Mus musculus TKTL1 MGD MGI:1933244