RPIA
entrez
22934
canonical
uniprot
P49247
canonical
ensembl
ENSG00000153574
resolver
ensp
ENSP00000283646
resolver
ensp
ENSP00000663714
resolver
enst
ENST00000283646
resolver
genesymbol
RPIA
resolver
genesymbol_syn
RPI
resolver
hgnc
HGNC:10297
resolver
uniprot
Q541P9
resolver
uniprot
Q96BJ6
resolver
uniprot_entry
RPIA_HUMAN
resolver
uniprot_sec
Q541P9
resolver
uniprot_sec
Q96BJ6
resolver
amino_acid_sequence
MQRPGPFSTLYGRVLAPLPGRAGGAASGGGGNSWDLPGSHVRLPGRAQSGTRGGAGNTSTSCGDSNSICPAPSTMSKAEEAKKLAGRAAVENHVRNNQVLGIGSGSTIVHAVQRIAERVKQENLNLVCIPTSFQARQLILQYGLTLSDLDRHPEIDLAIDGADEVDADLNLIKGGGGCLTQEKIVAGYASRFIVIADFRKDSKNLGDQWHKGIPIEVIPMAYVPVSRAVSQKFGGVVELRMAVNKAGPVVTDNGNFILDWKFDRVHKWSEVNTAIKMIPGVVDTGLFINMAERVYFGMQDGSVNMREKPFC
uniprot
proteins
disease_involvement
DISEASE: Ribose 5-phosphate isomerase deficiency (RPIAD) [MIM:608611]: An autosomal recessive inborn error of polyols metabolism characterized by highly elevated level of ribitol and arabitol in brain and body fluids. Clinical features include leukoencephalopathy, psychomotor retardation from early life, neurologic regression, and a mild sensorimotor neuropathy. {ECO:0000269|PubMed:14988808}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.3.1.6
uniprot
proteins
function
FUNCTION: Catalyzes the reversible conversion of ribose-5-phosphate to ribulose 5-phosphate and participates in the first step of the non-oxidative branch of the pentose phosphate pathway. {ECO:0000269|PubMed:14988808}.
uniprot
proteins
mass_dalton
33269
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate degradation; pentose phosphate pathway; D-ribose 5-phosphate from D-ribulose 5-phosphate (non-oxidative stage): step 1/1. {ECO:0000269|PubMed:14988808}.
uniprot
proteins
protein_family
Ribose 5-phosphate isomerase family
uniprot
proteins
pubmed
14988808
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
7758956
uniprot
proteins
sequence_length
311
uniprot
proteins