ALG9
entrez
79796
canonical
uniprot
Q9H6U8
canonical
ensembl
ENSG00000086848
resolver
ensp
ENSP00000381090
resolver
ensp
ENSP00000435517
resolver
ensp
ENSP00000482437
resolver
ensp
ENSP00000484200
resolver
ensp
ENSP00000527286
resolver
ensp
ENSP00000527287
resolver
ensp
ENSP00000673189
resolver
ensp
ENSP00000697570
resolver
genesymbol
ALG9
resolver
genesymbol_syn
DIBD1
resolver
hgnc
HGNC:15672
resolver
uniprot
Q6ZMD5
resolver
uniprot
Q7Z4R4
resolver
uniprot
Q96GS7
resolver
uniprot
Q96PB9
resolver
uniprot
Q9H068
resolver
uniprot_entry
ALG9_HUMAN
resolver
uniprot_sec
Q6ZMD5
resolver
uniprot_sec
Q7Z4R4
resolver
uniprot_sec
Q96GS7
resolver
uniprot_sec
Q96PB9
resolver
uniprot_sec
Q9H068
resolver
amino_acid_sequence
MASRGARQRLKGSGASSGDTAPAADKLRELLGSREAGGAEHRTELSGNKAGQVWAPEGSTAFKCLLSARLCAALLSNISDCDETFNYWEPTHYLIYGEGFQTWEYSPAYAIRSYAYLLLHAWPAAFHARILQTNKILVFYFLRCLLAFVSCICELYFYKAVCKKFGLHVSRMMLAFLVLSTGMFCSSSAFLPSSFCMYTTLIAMTGWYMDKTSIAVLGVAAGAILGWPFSAALGLPIAFDLLVMKHRWKSFFHWSLMALILFLVPVVVIDSYYYGKLVIAPLNIVLYNVFTPHGPDLYGTEPWYFYLINGFLNFNVAFALALLVLPLTSLMEYLLQRFHVQNLGHPYWLTLAPMYIWFIIFFIQPHKEERFLFPVYPLICLCGAVALSALQKCYHFVFQRYRLEHYTVTSNWLALGTVFLFGLLSFSRSVALFRGYHGPLDLYPEFYRIATDPTIHTVPEGRPVNVCVGKEWYRFPSSFLLPDNWQLQFIPSEFRGQLPKPFAEGPLATRIVPTDMNDQNLEEPSRYIDISKCHYLVDLDTMRETPREPKYSSNKEEWISLAYRPFLDASRSSKLLRAFYVPFLSDQYTVYVNYTILKPRKAKQIRKKSGG
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving ALG9 is found in a family with bipolar affective disorder. Translocation t(9;11)(p24;q23). However, common variations in ALG9 do not play a major role in predisposition to bipolar affective disorder. {ECO:0000269|PubMed:12030331}.; DISEASE: Congenital disorder of glycosylation 1L (CDG1L) [MIM:608776]: 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:15148656, ECO:0000269|PubMed:15945070}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Gillessen-Kaesbach-Nishimura syndrome (GIKANIS) [MIM:263210]: A rare autosomal recessive syndrome characterized by severe skeletal dysplasia, facial dysmorphic features, polycystic kidney disease and other visceral malformations. It may be lethal in utero or early in life. The skeletal features uniformly comprise a round pelvis, mesomelic shortening of the upper limbs and defective ossification of the cervical spine. {ECO:0000269|PubMed:25966638}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.259
uniprot
proteins
ec_number
2.4.1.261
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, catalyzes the addition of the seventh and ninth alpha-1,2-linked mannose residues to Man(6)GlcNAc(2)-PP-dolichol and Man(8)GlcNAc(2)-PP-dolichol respectively. {ECO:0000269|PubMed:15148656, ECO:0000269|PubMed:15945070}.
uniprot
proteins
mass_dalton
69863
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:15148656, ECO:0000269|PubMed:15945070}.
uniprot
proteins
protein_family
Glycosyltransferase 22 family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12030331
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15148656
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15945070
uniprot
proteins
pubmed
16859551
uniprot
proteins
pubmed
25966638
uniprot
proteins
sequence_length
611
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305|PubMed:15148656}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P53868}.
uniprot
proteins
transmembrane_region
TRANSMEM 136..156; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 172..192; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 214..234; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 250..270; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 305..325; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 343..363; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 371..391; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 406..426; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins