ALG12
entrez
79087
canonical
uniprot
Q9BV10
canonical
ensembl
ENSG00000182858
resolver
ensp
ENSP00000333813
resolver
ensp
ENSP00000575576
resolver
ensp
ENSP00000575577
resolver
ensp
ENSP00000600101
resolver
ensp
ENSP00000637620
resolver
ensp
ENSP00000744586
resolver
ensp
ENSP00000785020
resolver
enst
ENST00000330817
resolver
enst
ENST00000905517
resolver
enst
ENST00000905518
resolver
enst
ENST00000930042
resolver
enst
ENST00000967561
resolver
genesymbol
ALG12
resolver
hgnc
HGNC:19358
resolver
uniprot
A6PWM1
resolver
uniprot
Q4KMH4
resolver
uniprot
Q8NG10
resolver
uniprot
Q96AA4
resolver
uniprot_entry
ALG12_HUMAN
resolver
uniprot_sec
A6PWM1
resolver
uniprot_sec
Q4KMH4
resolver
uniprot_sec
Q8NG10
resolver
uniprot_sec
Q96AA4
resolver
amino_acid_sequence
MAGKGSSGRRPLLLGLLVAVATVHLVICPYTKVEESFNLQATHDLLYHWQDLEQYDHLEFPGVVPRTFLGPVVIAVFSSPAVYVLSLLEMSKFYSQLIVRGVLGLGVIFGLWTLQKEVRRHFGAMVATMFCWVTAMQFHLMFYCTRTLPNVLALPVVLLALAAWLRHEWARFIWLSAFAIIVFRVELCLFLGLLLLLALGNRKVSVVRALRHAVPAGILCLGLTVAVDSYFWRQLTWPEGKVLWYNTVLNKSSNWGTSPLLWYFYSALPRGLGCSLLFIPLGLVDRRTHAPTVLALGFMALYSLLPHKELRFIIYAFPMLNITAARGCSYLLNNYKKSWLYKAGSLLVIGHLVVNAAYSATALYVSHFNYPGGVAMQRLHQLVPPQTDVLLHIDVAAAQTGVSRFLQVNSAWRYDKREDVQPGTGMLAYTHILMEAAPGLLALYRDTHRVLASVVGTTGVSLNLTQLPPFNVHLQTKLVLLERLPRPS
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269|PubMed:11983712, ECO:0000269|PubMed:12093361, ECO:0000269|PubMed:12217961, ECO:0000269|PubMed:12736397, ECO:0000269|PubMed:17506107}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.260
uniprot
proteins
function
FUNCTION: Mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. The sequential addition of sugars to dolichol pyrophosphate produces dolichol-linked oligosaccharides containing fourteen sugars, including two GlcNAcs, nine mannoses and three glucoses. Once assembled, the oligosaccharide is transferred from the lipid to nascent proteins by oligosaccharyltransferases. In the lumen of the endoplasmic reticulum, adds the eighth mannose residue in an alpha-1,6 linkage onto Man(7)GlcNAc(2)-PP-dolichol to produce Man(8)GlcNAc(2)-PP-dolichol. {ECO:0000269|PubMed:11983712, ECO:0000269|PubMed:12093361, ECO:0000269|PubMed:12217961}.
uniprot
proteins
mass_dalton
54655
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:11983712, ECO:0000269|PubMed:12093361}.
uniprot
proteins
protein_family
Glycosyltransferase 22 family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
11983712
uniprot
proteins
pubmed
12093361
uniprot
proteins
pubmed
12217961
uniprot
proteins
pubmed
12736397
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
17506107
uniprot
proteins
sequence_length
488
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305|PubMed:12217961}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 11..31; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 68..88; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 93..113; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 122..142; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 145..165; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 177..197; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 212..232; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 264..284; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 290..310; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 312..332; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 346..366; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 423..443; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins