| Entry |
|
| Gene name |
MPI, CDG1B, PMI, PMI1
|
| Definition |
mannose phosphate isomerase (EC:5.3.1.8)
|
| Orthology |
| mannose-6-phosphate isomerase [EC: 5.3.1.8] |
|
| Organism |
|
| Pathway |
| Fructose and mannose metabolism | | Amino sugar and nucleotide sugar metabolism | | Metabolic pathways |
|
| Disease |
| Congenital disorders of glycosylation (CDG) type I |
|
| Class |
Metabolism; Carbohydrate metabolism; Fructose and mannose metabolism [PATH: hsa00051]
Metabolism; Carbohydrate metabolism; Amino sugar and nucleotide sugar metabolism [PATH: hsa00520]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
15q22-qter
|
| AA seq |
423 aa  
MAAPRVFPLSCAVQQYAWGKMGSNSEVARLLASSDPLAQIAEDKPYAELWMGTHPRGDAK
ILDNRISQKTLSQWIAENQDSLGSKVKDTFNGNLPFLFKVLSVETPLSIQAHPNKELAEK
LHLQAPQHYPDANHKPEMAIALTPFQGLCGFRPVEEIVTFLKKVPEFQFLIGDEAATHLK
QTMSHDSQAVASSLQSCFSHLMKSEKKVVVEQLNLLVKRISQQAAAGNNMEDIFGELLLQ
LHQQYPGDIGCFAIYFLNLLTLKPGEAMFLEANVPHAYLKGDCVECMACSDNTVRAGLTP
KFIDVPTLCEMLSYTPSSSKDRLFLPTRSQEDPYLSIYDPPVPDFTIMKTEVPGSVTEYK
VLALDSASILLMVQGTVIASTPTTQTPIPLQRGGVLFIGANESVSLKLTEPKDLLIFRAC
CLL |
| NT seq |
1272 nt  +upstreamnt +downstreamnt
atggccgctccgcgagtattcccactttcctgtgcggtgcagcagtatgcctgggggaag
atgggttccaacagcgaagtggcgcggctgttggccagcagtgatccactggcccagatc
gcagaggacaagccttatgcagagttgtggatggggactcacccccgaggggatgccaag
atccttgacaaccgcatctcacagaagaccctaagccagtggattgctgagaaccaggac
agcttgggctcaaaggtcaaggacacctttaatggcaacctgcccttcctcttcaaagtg
ctctcagttgaaacacccctgtccatccaggcacaccctaacaaggagctggcagagaag
ctgcacctccaggctccgcagcactaccccgatgccaaccacaagccagagatggccatt
gccctcacccccttccagggcttgtgtggcttccggccagttgaggagattgtaaccttt
ctaaagaaggtgcctgagtttcagttcctgattggagatgaggcagcaacacacctgaag
cagaccatgagccatgactcccaggctgtggcctcctctctgcagagctgtttctcccac
ctgatgaagagtgagaagaaggtggtggtggaacagctcaacctgttggtgaagcggatc
tcccagcaagcggctgccggaaacaacatggaggacatctttggggagcttttgctacag
ctgcaccagcagtacccaggtgatatcggctgctttgccatctacttcctgaacctgctt
accctgaagcctggggaggccatgtttctggaggccaacgtaccccatgcctacctgaaa
ggagactgcgtggagtgcatggcgtgttcagacaacacagttcgtgctggcctgacaccc
aagttcattgatgtgccaaccctgtgtgaaatgctcagctatacccctagctccagcaag
gacaggctctttctcccaacacggagtcaggaagacccctacctctcaatctatgacccc
cctgtaccagacttcaccattatgaagacggaggtccctggctctgtcactgaatacaag
gtcttggcactggactctgccagcatcctcctgatggtacaggggacagtaatagccagc
acacccacaacccagacaccaatccctctgcaacgtggtggcgtgctcttcattggggcc
aatgagagtgtctcactgaagcttactgagccgaaggacctgctgatattccgtgcctgc
tgtctgctgtaa |