Gene Report
Basic Info
Approved Symbol |
LMAN1
|
Previous Symbol |
F5F8D |
Symbol Alias |
MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1 |
Approved Name |
lectin, mannose-binding, 1 |
Previous Name |
coagulation factor V-factor VIII combined deficiency |
Name Alias |
endoplasmic reticulum-golgi intermediate compartment protein 53 |
Location |
18q21.3-q22 |
Position |
chr18:56995055-57026508, - |
External Links |
HGNC: 6631
Entrez Gene: 3998
Ensembl: ENSG00000074695
UCSC: uc002lhz.2
|
No. of Studies |
0 (significant: 0; non-significant: 0; trend: 0) |
Source |
Mapped by LD-proxy; Mapped by PBA pathway; Mapped by significant region |
Gene related studies (count: 0)
Gene related SNPs (count: 7)
Gene related CNVs (count: 0)
Gene related other variant (count: 0)
Gene related regions (count: 1)
Gene related GO terms (count: 22)
Gene related KEGG pathways (count: 1)
ID |
Name |
No. of Genes in ADHDgene |
Brief Description |
hsa04141 |
Protein processing in endoplasmic reticulum |
26 |
The endoplasmic reticulum (ER) is a subcellular organelle wh......
The endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylated. Correctly folded proteins are packaged into transport vesicles that shuttle them to the Golgi complex. Misfolded proteins are retained within the ER lumen in complex with molecular chaperones. Proteins that are terminally misfolded bind to BiP and are directed toward degradation through the proteasome in a process called ER-associated degradation (ERAD). Accumulation of misfolded proteins in the ER causes ER stress and activates a signaling pathway called the unfolded protein response (UPR). In certain severe situations, however, the protective mechanisms activated by the UPR are not sufficient to restore normal ER function and cells die by apoptosis.
More...
|
Genes shared at least 5 GO terms with LMAN1 (count: 32)
Genes shared at least 2 KEGG pathways with LMAN1 (count: 0)
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