| Type | Description |
|---|---|
| Definition | phosphoglucomutase 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-12-12 13:26:00 | AMPK-dependent phosphorylation of HDAC8 triggers PGM1 expression to promote lung cancer cell survival under glucose starvation. | 32171858 |
| 2020-12-05 13:03:00 | Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the alpha-D-phosphohexomutase superfamily. | 32221390 |
| 2020-07-25 12:16:00 | Variation in PGM-1 was associated with lower blood alcohol content in Korean subjects, suggesting likely involvement in alcohol metabolism and possible association with the development of alcohol-related diseases in Korea. | 31002879 |
| 2020-05-02 10:51:00 | c.405delT encodes a truncated protein with abnormal distribution and expression in skeletal muscle. | 30737079 |
| 2019-12-28 12:37:00 | A genetic variant in the gene for phosphoglucomutase 1 (PGM1) was identified in the index patient and her two brothers, all were found to be homozygous for the genetic variant (G230E) NM_002633.2:c.689G>A in PGM1. This variant has been linked to a congenital disorder of glycosylation. Both parents and three other siblings were found to be heterozygous gene carriers without risk for the disease. | 31563034 |
| Type | IDs |
|---|---|
| Synonymous | CDG1T, GSD14 |
| Gene |
UniProtKB-ID:
PGM1_HUMAN,
B4DDQ8_HUMAN,
B7Z6C2_HUMAN
UniprotKB:
P36871,
B4DDQ8,
B7Z6C2
UniParc:
UPI000000105F,
UPI000016A812,
UPI00017A7786,
UPI00017A6D85,
UPI0001914E43
EMBL:
AK298505,
BC001756,
S67998,
BC019920,
BT006961,
AK293298,
AL109925,
BC090856,
M83088,
AK300100,
AK312254,
S67989,
BC067763
Ensembl:
ENSG00000079739
KO:
hsa:5236
|
| Nucleutide sequences |
EMBL-CDS:
AAB29177.2,
BAG60712.1,
AAH67763.2,
AAA60080.1,
AAP35607.1,
BAG35186.1,
AAH19920.1,
AAH01756.3,
AAH90856.1,
AAB29178.1,
BAG56819.1,
BAH13208.1
Ensembl_TRS:
ENST00000540265,
ENST00000371084,
ENST00000371083
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000443449,
ENSP00000360125,
ENSP00000360124
RefSeq:
NP_001166289.1,
NP_002624.2,
NP_001166290.1
|
| Others |
UniRef100:
UniRef100_B7Z6C2,
UniRef100_P36871,
UniRef100_B4DDQ8
UniRef90:
UniRef90_P36871-2,
UniRef90_B4DDQ8,
UniRef90_P36871
UniRef50:
UniRef50_A0A0D2Q818,
UniRef50_P36871
UniGene:
Hs.1869
CCDS:
CCDS53324.1,
CCDS53323.1,
CCDS625.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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