ALG8
entrez
79053
canonical
uniprot
Q9BVK2
canonical
ensembl
ENSG00000159063
resolver
ensp
ENSP00000299626
resolver
ensp
ENSP00000365326
resolver
ensp
ENSP00000431357
resolver
ensp
ENSP00000432381
resolver
ensp
ENSP00000432953
resolver
ensp
ENSP00000433429
resolver
ensp
ENSP00000434066
resolver
ensp
ENSP00000435626
resolver
ensp
ENSP00000436064
resolver
ensp
ENSP00000437033
resolver
ensp
ENSP00000480742
resolver
ensp
ENSP00000504917
resolver
ensp
ENSP00000505016
resolver
ensp
ENSP00000505074
resolver
ensp
ENSP00000505136
resolver
ensp
ENSP00000505200
resolver
ensp
ENSP00000505207
resolver
ensp
ENSP00000505407
resolver
ensp
ENSP00000505743
resolver
ensp
ENSP00000505811
resolver
ensp
ENSP00000505965
resolver
ensp
ENSP00000505984
resolver
ensp
ENSP00000506092
resolver
ensp
ENSP00000506099
resolver
ensp
ENSP00000506170
resolver
ensp
ENSP00000506215
resolver
ensp
ENSP00000506408
resolver
ensp
ENSP00000506421
resolver
ensp
ENSP00000523826
resolver
ensp
ENSP00000523828
resolver
ensp
ENSP00000523830
resolver
ensp
ENSP00000523832
resolver
ensp
ENSP00000523835
resolver
ensp
ENSP00000595599
resolver
ensp
ENSP00000653186
resolver
ensp
ENSP00000731336
resolver
enst
ENST00000525761
resolver
enst
ENST00000525783
resolver
enst
ENST00000527099
resolver
enst
ENST00000529139
resolver
enst
ENST00000530608
resolver
enst
ENST00000530910
resolver
enst
ENST00000532306
resolver
enst
ENST00000532440
resolver
enst
ENST00000615266
resolver
enst
ENST00000679444
resolver
enst
ENST00000679497
resolver
enst
ENST00000680101
resolver
enst
ENST00000680256
resolver
enst
ENST00000680329
resolver
enst
ENST00000680399
resolver
enst
ENST00000680499
resolver
enst
ENST00000680580
resolver
enst
ENST00000680761
resolver
enst
ENST00000680829
resolver
enst
ENST00000681221
resolver
enst
ENST00000681225
resolver
enst
ENST00000681417
resolver
enst
ENST00000681489
resolver
enst
ENST00000681575
resolver
genesymbol
ALG8
resolver
hgnc
HGNC:23161
resolver
uniprot
A0A024R5K5
resolver
uniprot
A0A7P0TA89
resolver
uniprot
A0A7P0TAA8
resolver
uniprot
A0A7P0Z449
resolver
uniprot
A0A804G6E3
resolver
uniprot
A6NDW6
resolver
uniprot
E9PLP7
resolver
uniprot
E9PP04
resolver
uniprot
E9PR58
resolver
uniprot
H0YCV0
resolver
uniprot
H0YD42
resolver
uniprot
H0YDD3
resolver
uniprot
H0YDQ1
resolver
uniprot
H0YEE0
resolver
uniprot
O60860
resolver
uniprot_entry
A0A024R5K5_HUMAN
resolver
uniprot_entry
A0A7P0TA89_HUMAN
resolver
uniprot_entry
A0A7P0TAA8_HUMAN
resolver
uniprot_entry
A0A7P0Z449_HUMAN
resolver
uniprot_entry
A0A804G6E3_HUMAN
resolver
uniprot_entry
ALG8_HUMAN
resolver
uniprot_entry
E9PR58_HUMAN
resolver
uniprot_entry
H0YCV0_HUMAN
resolver
uniprot_entry
H0YD42_HUMAN
resolver
uniprot_entry
H0YDD3_HUMAN
resolver
uniprot_entry
H0YEE0_HUMAN
resolver
uniprot_sec
A6NDW6
resolver
uniprot_sec
E9PLP7
resolver
uniprot_sec
E9PP04
resolver
uniprot_sec
H0YDQ1
resolver
uniprot_sec
O60860
resolver
amino_acid_sequence
MAALTIATGTGNWFSALALGVTLLKCLLIPTYHSTDFEVHRNWLAITHSLPISQWYYEATSEWTLDYPPFFAWFEYILSHVAKYFDQEMLNVHNLNYSSSRTLLFQRFSVIFMDVLFVYAVRECCKCIDGKKVGKELTEKPKFILSVLLLWNFGLLIVDHIHFQYNGFLFGLMLLSIARLFQKRHMEGAFLFAVLLHFKHIYLYVAPAYGVYLLRSYCFTANKPDGSIRWKSFSFVRVISLGLVVFLVSALSLGPFLALNQLPQVFSRLFPFKRGLCHAYWAPNFWALYNALDKVLSVIGLKLKFLDPNNIPKASMTSGLVQQFQHTVLPSVTPLATLICTLIAILPSIFCLWFKPQGPRGFLRCLTLCALSSFMFGWHVHEKAILLAILPMSLLSVGKAGDASIFLILTTTGHYSLFPLLFTAPELPIKILLMLLFTIYSISSLKTLFRKEKPLFNWMETFYLLGLGPLEVCCEFVFPFTSWKVKYPFIPLLLTSVYCAVGITYAWFKLYVSVLIDSAIGKTKKQ
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104]: 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:15235028}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Polycystic liver disease 3 with or without kidney cysts (PCLD3) [MIM:617874]: A form of polycystic liver disease, an autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. PCLD3 patients may also develop kidney cysts that usually do not result in clinically significant renal disease. {ECO:0000269|PubMed:28375157}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.265
uniprot
proteins
function
FUNCTION: Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase 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 second glucose residue from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide intermediate Glc(1)Man(9)GlcNAc(2)-PP-Dol to produce Glc(2)Man(9)GlcNAc(2)-PP-Dol. Glc(2)Man(9)GlcNAc(2)-PP-Dol is a substrate for ALG10, the following enzyme in the biosynthetic pathway (PubMed:12480927, PubMed:15235028). Required for PKD1/Polycystin-1 maturation and localization to the plasma membrane of the primary cilia (By similarity). {ECO:0000250|UniProtKB:Q6P8H8, ECO:0000269|PubMed:12480927, ECO:0000269|PubMed:15235028}.
uniprot
proteins
mass_dalton
60088
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:12480927, ECO:0000269|PubMed:15235028}.
uniprot
proteins
protein_family
ALG6/ALG8 glucosyltransferase family
uniprot
proteins
pubmed
11124703
uniprot
proteins
pubmed
12480927
uniprot
proteins
pubmed
15235028
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
28375157
uniprot
proteins
sequence_length
526
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305|PubMed:15235028}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 4..24; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 103..122; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 143..163; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 188..208; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 238..258; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 334..354; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 368..388; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 389..409; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 427..449; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 461..481; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 488..508; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins