MPI
entrez
4351
canonical
uniprot
P34949
canonical
ensembl
ENSG00000178802
resolver
ensp
ENSP00000318192
resolver
ensp
ENSP00000318318
resolver
ensp
ENSP00000440447
resolver
ensp
ENSP00000455241
resolver
ensp
ENSP00000455405
resolver
enst
ENST00000535694
resolver
enst
ENST00000563786
resolver
enst
ENST00000566377
resolver
genesymbol
MPI
resolver
genesymbol_syn
PMI1
resolver
hgnc
HGNC:7216
resolver
uniprot
A8K8K9
resolver
uniprot
B4DW50
resolver
uniprot
E7ENB3
resolver
uniprot
F5GX71
resolver
uniprot
H3BPB8
resolver
uniprot
H3BPP3
resolver
uniprot
Q8NHZ6
resolver
uniprot
Q96AB0
resolver
uniprot_entry
B4DW50_HUMAN
resolver
uniprot_entry
F5GX71_HUMAN
resolver
uniprot_entry
H3BPB8_HUMAN
resolver
uniprot_entry
H3BPP3_HUMAN
resolver
uniprot_entry
MPI_HUMAN
resolver
uniprot_entry
Q8NHZ6_HUMAN
resolver
uniprot_sec
A8K8K9
resolver
uniprot_sec
E7ENB3
resolver
uniprot_sec
Q96AB0
resolver
amino_acid_sequence
MAAPRVFPLSCAVQQYAWGKMGSNSEVARLLASSDPLAQIAEDKPYAELWMGTHPRGDAKILDNRISQKTLSQWIAENQDSLGSKVKDTFNGNLPFLFKVLSVETPLSIQAHPNKELAEKLHLQAPQHYPDANHKPEMAIALTPFQGLCGFRPVEEIVTFLKKVPEFQFLIGDEAATHLKQTMSHDSQAVASSLQSCFSHLMKSEKKVVVEQLNLLVKRISQQAAAGNNMEDIFGELLLQLHQQYPGDIGCFAIYFLNLLTLKPGEAMFLEANVPHAYLKGDCVECMACSDNTVRAGLTPKFIDVPTLCEMLSYTPSSSKDRLFLPTRSQEDPYLSIYDPPVPDFTIMKTEVPGSVTEYKVLALDSASILLMVQGTVIASTPTTQTPIPLQRGGVLFIGANESVSLKLTEPKDLLIFRACCLL
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 1B (CDG1B) [MIM:602579]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1B is clinically characterized by protein-losing enteropathy. {ECO:0000269|PubMed:10980531, ECO:0000269|PubMed:11134235, ECO:0000269|PubMed:11350186, ECO:0000269|PubMed:12357336, ECO:0000269|PubMed:12414827, ECO:0000269|PubMed:9525984, ECO:0000269|PubMed:9585601}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.3.1.8
uniprot
proteins
function
FUNCTION: Isomerase that catalyzes the interconversion of fructose-6-P and mannose-6-P and has a critical role in the supply of D-mannose derivatives required for many eukaryotic glycosylation reactions. {ECO:0000269|PubMed:8307007, ECO:0000305|PubMed:9525984, ECO:0000305|PubMed:9585601}.
uniprot
proteins
mass_dalton
46656
uniprot
proteins
pathway_participation
PATHWAY: Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6-phosphate: step 1/2.
uniprot
proteins
protein_family
Mannose-6-phosphate isomerase type 1 family
uniprot
proteins
pubmed
10980531
uniprot
proteins
pubmed
11134235
uniprot
proteins
pubmed
11350186
uniprot
proteins
pubmed
12357336
uniprot
proteins
pubmed
12414827
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
8307007
uniprot
proteins
pubmed
9525984
uniprot
proteins
pubmed
9585601
uniprot
proteins
sequence_length
423
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q924M7}.
uniprot
proteins