| Type | Description |
|---|---|
| Definition | GDP-mannose pyrophosphorylase A |
| Date | Results | Publications |
|---|---|---|
| 2021-01-09 13:26:00 | Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome. | 31898852 |
| 2017-12-02 10:28:00 | Based on our findings and the previous report describing patients with an overlapping phenotype, we conclude that this novel variant in GMPPA, identified by exome sequencing in the proband and her affected sister, is the genetic cause of their phenotype and may expand the known phenotype of this recently described glycosylation disorder. | 28574218 |
| 2014-02-22 10:43:00 | GMPPA might serve as a GMPPB regulatory subunit mediating feedback inhibition of GMPPB instead of displaying catalytic enzyme activity itself. | 24035193 |
| Type | IDs |
|---|---|
| Synonymous | AAMR |
| Gene |
UniProtKB-ID:
GMPPA_HUMAN,
A0A384MDS7_HUMAN
UniprotKB:
Q96IJ6,
A0A384MDS7
UniParc:
UPI000006D41C,
UPI000066D9A1
EMBL:
AF135422,
AK290671,
AK222951,
AC053503,
GQ891444,
CH471063,
AK000999,
BC007456,
AK022578
Ensembl:
ENSG00000144591
KO:
hsa:29926
|
| Nucleutide sequences |
EMBL-CDS:
AAH07456.1,
BAA91460.1,
BAG51096.1,
BAF83360.1,
BAD96671.1,
EAW70755.1,
EAW70759.1,
AAY15053.1,
AAD38517.1,
ADO22306.1,
EAW70757.1,
EAW70758.1
Gene_ORFName:
hCG_15576
Ensembl_TRS:
ENST00000341142,
ENST00000373917,
ENST00000358215,
ENST00000373908,
ENST00000313597
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000340760,
ENSP00000315925,
ENSP00000363016,
ENSP00000350949,
ENSP00000363027
RefSeq:
NP_001361223.1,
NP_037467.2,
NP_001361224.1,
NP_995319.1
|
| Others |
UniRef100:
UniRef100_Q96IJ6
UniRef90:
UniRef90_Q96IJ6
UniRef50:
UniRef50_Q96IJ6
UniGene:
Hs.27059
CCDS:
CCDS2441.1
|
| {{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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