RBCC

APT_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: APRT
Protein names and data: APT_HUMAN , Adenine phosphoribosyltransferase; APRT; 2.4.2.7 Lenght: 180 a.a.
Mass: 19608 Da
fasta formatted sequence
Function: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
Catalytic activity: AMP + diphosphate = adenine + 5-phospho-alpha- D-ribose 1-diphosphate.
Pathway: Purine metabolism; AMP biosynthesis via salvage pathway; AMP from adenine: step 1/1.
Disease: ( OMIM: 102600 614723 ) Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]: An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm.

Genetic variants

33 - 33 L -> P (in APRTD). VAR_069049
65 - 65 D -> V (in APRTD; Icelandic type). VAR_006747
84 - 84 V -> M (in APRTD; dbSNP:rs200392753). VAR_069050 200392753
110 - 110 L -> P (in APRTD; Newfoundland type). VAR_006748
121 - 121 Q -> R (in dbSNP:rs8191494). VAR_019055 8191494
133 - 133 G -> D (in APRTD). VAR_069051
136 - 136 M -> T (in APRTD; Japanese type; allele APRT*J; most common mutation; dbSNP:rs28999113). VAR_006749 28999113
150 - 150 V -> F (in APRTD). VAR_022608
153 - 153 C -> R (in APRTD). VAR_022609
173 - 173 Missing (in APRTD). VAR_037575

Database cross-references

UniProt: P07741
Ensembl: ENST00000378364
Ensembl: ENST00000426324
MIM: 102600
MIM: 614723
neXtProt: NX_P07741
Antibodypedia: P07741 (may not find the protein thus also not any antibody)
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RBCC Red Blood Cell Collection

APT_HUMAN

Genetic variants

Database cross-references

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