GNPNAT1
entrez
64841
canonical
uniprot
Q96EK6
canonical
ensembl
ENSG00000100522
resolver
ensp
ENSP00000216410
resolver
ensp
ENSP00000452032
resolver
ensp
ENSP00000496934
resolver
ensp
ENSP00000545261
resolver
ensp
ENSP00000545262
resolver
ensp
ENSP00000545263
resolver
ensp
ENSP00000545264
resolver
ensp
ENSP00000545265
resolver
ensp
ENSP00000545266
resolver
ensp
ENSP00000545267
resolver
ensp
ENSP00000545268
resolver
ensp
ENSP00000545269
resolver
ensp
ENSP00000545270
resolver
ensp
ENSP00000545271
resolver
ensp
ENSP00000586869
resolver
ensp
ENSP00000586871
resolver
ensp
ENSP00000586872
resolver
ensp
ENSP00000586873
resolver
enst
ENST00000216410
resolver
enst
ENST00000650397
resolver
enst
ENST00000875202
resolver
enst
ENST00000875203
resolver
enst
ENST00000875204
resolver
enst
ENST00000875205
resolver
enst
ENST00000875206
resolver
enst
ENST00000875207
resolver
enst
ENST00000875208
resolver
enst
ENST00000875209
resolver
enst
ENST00000875210
resolver
enst
ENST00000875211
resolver
enst
ENST00000875212
resolver
enst
ENST00000916811
resolver
enst
ENST00000916812
resolver
enst
ENST00000916813
resolver
enst
ENST00000916815
resolver
genesymbol
GNPNAT1
resolver
genesymbol_syn
GNA1
resolver
hgnc
HGNC:19980
resolver
uniprot_entry
GNA1_HUMAN
resolver
amino_acid_sequence
MKPDETPMFDPSLLKEVDWSQNTATFSPAISPTHPGEGLVLRPLCTADLNRGFFKVLGQLTETGVVSPEQFMKSFEHMKKSGDYYVTVVEDVTLGQIVATATLIIEHKFIHSCAKRGRVEDVVVSDECRGKQLGKLLLSTLTLLSKKLNCYKITLECLPQNVGFYKKFGYTVSEENYMCRRFLK
uniprot
proteins
disease_involvement
DISEASE: Rhizomelic dysplasia, Ain-Naz type (RHZDAN) [MIM:619598]: An autosomal recessive skeletal dysplasia characterized by short stature, marked rhizomelic shortening of the limbs, platyspondyly, hip dysplasia, and large hands and feet relative to height. {ECO:0000269|PubMed:32591345}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.4
uniprot
proteins
mass_dalton
20749
uniprot
proteins
mutagenesis
MUTAGEN 156; /note="E->A: Reduces affinity for glucosamine-6-phosphate 6-fold."; /evidence="ECO:0000269|PubMed:18675810"; MUTAGEN 156; /note="E->D: Slightly reduced catalytic activity."; /evidence="ECO:0000269|PubMed:18675810
uniprot
proteins
pathway_participation
PATHWAY: Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; N-acetyl-alpha-D-glucosamine 1-phosphate from alpha-D-glucosamine 6-phosphate (route I): step 1/2.
uniprot
proteins
protein_family
Acetyltransferase family
uniprot
proteins
protein_family
GNA1 subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18601654
uniprot
proteins
pubmed
18675810
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
32591345
uniprot
proteins
sequence_length
184
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane; Peripheral membrane protein. Endosome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
uniprot
proteins