RBCC

TPIS_HUMAN

Source: hRBCD ; ID: IPI00465028
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: TPI1 , TPI
Protein names and data: TPIS_HUMAN , Triosephosphate isomerase; TIM; 5.3.1.1 , Triose-phosphate isomerase Lenght: 286 a.a.
Mass: 30791 Da
fasta formatted sequence
Catalytic activity: D-glyceraldehyde 3-phosphate = glycerone phosphate.
Pathway: Carbohydrate biosynthesis; gluconeogenesis. Carbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate from glycerone phosphate: step 1/1.
Disease: ( OMIM: 190450 ) Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]: Autosomal recessive disorder. It is the most severe clinical disorder of glycolysis. It is associated with neonatal jaundice, chronic hemolytic anemia, progressive neuromuscular dysfunction, cardiomyopathy and increased susceptibility to infection. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genetic variants

79 - 79 C -> Y (in TPI deficiency). VAR_007534
110 - 110 G -> A (in TPI deficiency). VAR_007535
142 - 142 E -> D (in TPI deficiency; the enzyme becomes thermolabile). VAR_007536
160 - 160 G -> R (in Manchester; thermolabile). VAR_007537
192 - 192 V -> M (in TPI deficiency; dbSNP:rs188138723). VAR_007538 188138723
208 - 208 I -> V (in TPI deficiency). VAR_007539
269 - 269 V -> M (in TPI deficiency). VAR_007540
278 - 278 F -> L (in TPI deficiency; Hungary; thermolabile). VAR_007541

Database cross-references

UniProt: P60174
Ensembl: ENST00000229270
Ensembl: ENST00000396705
Ensembl: ENST00000488464
Ensembl: ENST00000535434
Ensembl: ENST00000595390
Ensembl: ENST00000598287
Ensembl: ENST00000599583
Ensembl: ENST00000601074
MIM: 190450
neXtProt: NX_P60174
Antibodypedia: P60174 (may not find the protein thus also not any antibody)
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RBCC Red Blood Cell Collection

TPIS_HUMAN

Genetic variants

Database cross-references

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