| Type | Description |
|---|---|
| Definition | phosphoglucomutase 3 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-13 13:29:00 | Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions. | 31707513 |
| 2020-07-25 11:16:00 | Deficiency of phosphoglucomutase 3 (PGM3) is an autosomal recessive disorder of N- and O-glycosylation. | 31231132 |
| 2020-05-02 10:09:00 | our findings demonstrate that defective glycosylation in PGM3-deficient patients results in reduced expression of unglycosylated gp130 protein and consequently, impaired gp130-dependent phosphorylation. | 30578875 |
| 2018-04-28 12:02:00 | Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations. | 28543917 |
| 2018-01-20 10:52:00 | study reports the first founder mutation in PGM3 gene (p.Glu340del) in twelve Tunisian PGM3 deficient patients belonging to three consanguineous families originating from a rural district in west central Tunisia | 28704707 |
| Type | IDs |
|---|---|
| Synonymous | AGM1, IMD23, PAGM, PGM 3 |
| Gene |
UniProtKB-ID:
AGM1_HUMAN,
J3KN95_HUMAN
UniprotKB:
O95394,
J3KN95
UniParc:
UPI0000EE1E5C,
UPI0000579B50,
UPI0001639C12,
UPI0000037A97
EMBL:
AK023709,
AL121716,
AF102265,
AF180371,
AK314512,
AB032081,
CH471051,
AL117443,
AL049699,
AK301867,
BC001258
Ensembl:
ENSG00000013375
KO:
hsa:5238
|
| Nucleutide sequences |
EMBL-CDS:
AAH01258.1,
AAD55097.1,
BAB14652.1,
BAG37112.1,
EAW48670.1,
CAB55928.1,
EAW48671.1,
BAG63306.1,
AAC72409.1,
BAB00613.1,
EAW48668.1
Gene_ORFName:
hCG_401113
Ensembl_TRS:
ENST00000512866,
ENST00000513973,
ENST00000506587,
ENST00000283977
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000424874,
ENSP00000425809,
ENSP00000421565,
ENSP00000283977
RefSeq:
NP_001354216.1,
NP_001186846.1,
NP_001186848.1,
NP_001354215.1,
NP_001186847.1,
XP_016866424.1,
NP_056414.1,
XP_016866426.1
|
| Others |
UniRef100:
UniRef100_J3KN95,
UniRef100_O95394
UniRef90:
UniRef90_O95394,
UniRef90_J3KN95
UniRef50:
UniRef50_O95394,
UniRef50_J3KN95
UniGene:
Hs.661665
CCDS:
CCDS4997.1,
CCDS56436.1,
CCDS56435.1
|
| {{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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