SHPK
entrez
23729
canonical
uniprot
Q9UHJ6
canonical
ensembl
ENSG00000197417
resolver
ensembl
ENSG00000262304
resolver
ensp
ENSP00000225519
resolver
ensp
ENSP00000461416
resolver
enst
ENST00000225519
resolver
enst
ENST00000572919
resolver
genesymbol
SHPK
resolver
genesymbol_syn
CARKL
resolver
hgnc
HGNC:1492
resolver
uniprot
A0A0B4J2A0
resolver
uniprot
B2R640
resolver
uniprot
Q8WUH3
resolver
uniprot_entry
A0A0B4J2A0_HUMAN
resolver
uniprot_entry
SHPK_HUMAN
resolver
uniprot_sec
B2R640
resolver
uniprot_sec
Q8WUH3
resolver
amino_acid_sequence
MAARPITLGIDLGTTSVKAALLRAAPDDPSGFAVLASCARAARAEAAVESAVAGPQGREQDVSRILQALHECLAALPRPQLRSVVGIGVSGQMHGVVFWKTGQGCEWTEGGITPVFEPRAVSHLVTWQDGRCSSEFLASLPQPKSHLSVATGFGCATIFWLLKYRPEFLKSYDAAGTIHDYVVAMLCGLPRPLMSDQNAASWGYFNTQSQSWNVETLRSSGFPVHLLPDIAEPGSVAGRTSHMWFEIPKGTQVGVALGDLQASVYSCMAQRTDAVLNISTSVQLAASMPSGFQPAQTPDPTAPVAYFPYFNRTYLGVAASLNGGNVLATFVHMLVQWMADLGLEVEESTVYSRMIQAAVQQRDTHLTITPTVLGERHLPDQLASVTRISSSDLSLGHVTRALCRGIVQNLHSMLPIQQLQEWGVERVMGSGSALSRNDVLKQEVQRAFPLPMSFGQDVDAAVGAALVMLRRHLNQKES
uniprot
proteins
disease_involvement
DISEASE: Sedoheptulokinase deficiency (SHPKD) [MIM:617213]: An autosomal recessive metabolic disease characterized by increased urinary erythritol and sedoheptulose. Neonatal cholestasis, hypoglycemia, anemia, congenital arthrogryposis multiplex, multiple contractures and dysmorphisms have been reported in SHPKD patients, but the relationship of these features to the SHPKD is unclear. {ECO:0000269|PubMed:25647543}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.14
uniprot
proteins
function
FUNCTION: Acts as a modulator of macrophage activation through control of glucose metabolism. {ECO:0000250}.
uniprot
proteins
mass_dalton
51505
uniprot
proteins
protein_family
FGGY kinase family
uniprot
proteins
pubmed
10673275
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18186520
uniprot
proteins
pubmed
22682222
uniprot
proteins
pubmed
25647543
uniprot
proteins
sequence_length
478
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
uniprot
proteins