| Type | Description |
|---|---|
| Definition | phosphomannomutase 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-02-16 10:19:00 | The 1.93 A resolution structure of PMM1 complexed with inosine monophosphate (IMP) was determined. The structure reveals IMP bound at the substrate recruitment site, thus inhibiting the mutase activity while simultaneously activating a phosphatase activity (IMP Kact = 1.5 muM) resulting from the hydrolysis of the phospho-enzyme. | 29695157 |
| 2018-01-13 12:44:00 | a triple mutant of phospomannomutase1 that retains mutase and phosphatase activity, but is unable to bind inosine monophosphate, was characterized. | 29261720 |
| 2010-01-21 00:00:00 | Mutations in phosphomannomutase is associated with ophthalmic manifestations of congenital disorder of glycosylation type 1a | 12789572 |
| 2010-01-21 00:00:00 | The genes GUS and PMM1 are recommended for normalization purposes in gene expression studies of liver tissue from patients with chronic hepatitis. | 18591914 |
| 2010-01-21 00:00:00 | PMM1 is responsible for the degradation of Glc-1,6-P(2) in brain | 18927083 |
| Type | IDs |
|---|---|
| Synonymous | PMM 1, PMMH-22, Sec53 |
| Gene |
UniProtKB-ID:
PMM1_HUMAN,
A0A024R1U5_HUMAN
UniprotKB:
Q92871,
A0A024R1U5
UniParc:
UPI00000302B6
EMBL:
U62526,
AK316580,
AL023553,
CR456544,
BC010855,
BC016818,
AK289368,
U86070,
D87810,
CH471095
Ensembl:
ENSG00000100417
KO:
hsa:5372
|
| Nucleutide sequences |
EMBL-CDS:
CAG30430.1,
AAH10855.1,
AAC51117.1,
BAG38168.1,
BAA13460.1,
BAF82057.1,
EAW60443.1,
AAH16818.1,
AAC00023.1,
EAW60444.1
Gene_ORFName:
hCG_41539
Ensembl_TRS:
ENST00000216259
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000216259
RefSeq:
XP_011528531.1,
XP_011528533.1,
XP_024308019.1,
NP_002667.2,
XP_005261695.1,
XP_011528532.1,
XP_011528534.1
|
| Others |
UniRef100:
UniRef100_Q92871
UniRef90:
UniRef90_Q92871
UniRef50:
UniRef50_Q92871
UniGene:
Hs.75835
CCDS:
CCDS14020.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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