ALG1
entrez
56052
canonical
uniprot
Q9BT22
canonical
ensembl
ENSG00000033011
resolver
ensp
ENSP00000262374
resolver
ensp
ENSP00000440019
resolver
ensp
ENSP00000507554
resolver
enst
ENST00000684190
resolver
genesymbol
ALG1
resolver
genesymbol_syn
HMAT1
resolver
genesymbol_syn
HMT1
resolver
hgnc
HGNC:18294
resolver
uniprot
A0A804HJL6
resolver
uniprot
B4DP08
resolver
uniprot
Q6UVZ9
resolver
uniprot
Q8N5Y4
resolver
uniprot
Q9P2Y2
resolver
uniprot_entry
A0A804HJL6_HUMAN
resolver
uniprot_entry
ALG1_HUMAN
resolver
uniprot_sec
B4DP08
resolver
uniprot_sec
Q6UVZ9
resolver
uniprot_sec
Q8N5Y4
resolver
uniprot_sec
Q9P2Y2
resolver
amino_acid_sequence
MAASCLVLLALCLLLPLLLLGGWKRWRRGRAARHVVAVVLGDVGRSPRMQYHALSLAMHGFSVTLLGFCNSKPHDELLQNNRIQIVGLTELQSLAVGPRVFQYGVKVVLQAMYLLWKLMWREPGAYIFLQNPPGLPSIAVCWFVGCLCGSKLVIDWHNYGYSIMGLVHGPNHPLVLLAKWYEKFFGRLSHLNLCVTNAMREDLADNWHIRAVTVYDKPASFFKETPLDLQHRLFMKLGSMHSPFRARSEPEDPVTERSAFTERDAGSGLVTRLRERPALLVSSTSWTEDEDFSILLAALEKFEQLTLDGHNLPSLVCVITGKGPLREYYSRLIHQKHFQHIQVCTPWLEAEDYPLLLGSADLGVCLHTSSSGLDLPMKVVDMFGCCLPVCAVNFKCLHELVKHEENGLVFEDSEELAAQLQMLFSNFPDPAGKLNQFRKNLRESQQLRWDESWVQTVLPLVMDT
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]: 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:14709599, ECO:0000269|PubMed:14973778, ECO:0000269|PubMed:14973782, ECO:0000269|PubMed:26931382}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.142
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. Catalyzes, on the cytoplasmic face of the endoplasmic reticulum, the addition of the first mannose residues to the dolichol-linked oligosaccharide chain, to produce Man1GlcNAc(2)-PP-dolichol core oligosaccharide. Man1GlcNAc(2)-PP-dolichol is a substrate for ALG2, the following enzyme in the biosynthetic pathway. {ECO:0000269|PubMed:10704531, ECO:0000269|PubMed:14973778, ECO:0000269|PubMed:26931382}.
uniprot
proteins
mass_dalton
52518
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:14973778}.
uniprot
proteins
protein_family
Glycosyltransferase 33 subfamily
uniprot
proteins
protein_family
Glycosyltransferase group 1 family
uniprot
proteins
pubmed
10704531
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14709599
uniprot
proteins
pubmed
14973778
uniprot
proteins
pubmed
14973782
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26931382
uniprot
proteins
pubmed
35136180
uniprot
proteins
sequence_length
464
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:P16661}; Single-pass membrane protein {ECO:0000250|UniProtKB:P16661}.
uniprot
proteins
transmembrane_region
TRANSMEM 3..23; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins