BPNT2
entrez
54928
canonical
uniprot
Q9NX62
canonical
ensembl
ENSG00000104331
resolver
ensp
ENSP00000262644
resolver
ensp
ENSP00000777770
resolver
enst
ENST00000262644
resolver
genesymbol
BPNT2
resolver
genesymbol_syn
IMPA3
resolver
genesymbol_syn
IMPAD1
resolver
hgnc
HGNC:26019
resolver
uniprot
Q6NVY7
resolver
uniprot_entry
IMPA3_HUMAN
resolver
uniprot_sec
Q6NVY7
resolver
activity_regulation
ACTIVITY REGULATION: Strongly inhibited by lithium. {ECO:0000250|UniProtKB:Q80V26}.
uniprot
proteins
amino_acid_sequence
MAPMGIRLSPLGVAVFCLLGLGVLYHLYSGFLAGRFSLFGLGGEPGGGAAGPAAAADGGTVDLREMLAVSVLAAVRGGDEVRRVRESNVLHEKSKGKTREGAEDKMTSGDVLSNRKMFYLLKTAFPSVQINTEEHVDAADQEVILWDHKIPEDILKEVTTPKEVPAESVTVWIDPLDATQEYTEDLRKYVTTMVCVAVNGKPMLGVIHKPFSEYTAWAMVDGGSNVKARSSYNEKTPRIVVSRSHSGMVKQVALQTFGNQTTIIPAGGAGYKVLALLDVPDKSQEKADLYIHVTYIKKWDICAGNAILKALGGHMTTLSGEEISYTGSDGIEGGLLASIRMNHQALVRKLPDLEKTGHK
uniprot
proteins
disease_involvement
DISEASE: Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP) [MIM:614078]: A condition consisting of congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a distinctive face. {ECO:0000269|PubMed:21549340}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.3.7
uniprot
proteins
function
FUNCTION: Exhibits 3'-nucleotidase activity toward adenosine 3',5'-bisphosphate (PAP), namely hydrolyzes adenosine 3',5'-bisphosphate into adenosine 5'-monophosphate (AMP) and a phosphate. May play a role in the formation of skeletal elements derived through endochondral ossification, possibly by clearing adenosine 3',5'-bisphosphate produced by Golgi sulfotransferases during glycosaminoglycan sulfation. Has no activity toward 3'-phosphoadenosine 5'-phosphosulfate (PAPS) or inositol phosphate (IP) substrates including I(1)P, I(1,4)P2, I(1,3,4)P3, I(1,4,5)P3 and I(1,3,4,5)P4. {ECO:0000250|UniProtKB:Q80V26}.
uniprot
proteins
mass_dalton
38681
uniprot
proteins
pathway_participation
PATHWAY: Sulfur metabolism. {ECO:0000250|UniProtKB:Q80V26}.
uniprot
proteins
post_translational_modification
PTM: Contains N-linked glycan resistant to endoglycosydase H. {ECO:0000269|PubMed:18695242}.
uniprot
proteins
protein_family
Inositol monophosphatase superfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18695242
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21549340
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
25732826
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
359
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:18695242}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:18695242}; Single-pass type II membrane protein {ECO:0000255, ECO:0000269|PubMed:18695242}. Note=The catalytic core is predicted to reside within the Golgi lumen. {ECO:0000269|PubMed:18695242}.
uniprot
proteins
transmembrane_region
TRANSMEM 13..33; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins