PIGB
entrez
9488
canonical
uniprot
Q92521
canonical
ensembl
ENSG00000069943
resolver
ensp
ENSP00000164305
resolver
ensp
ENSP00000528311
resolver
ensp
ENSP00000528313
resolver
ensp
ENSP00000674582
resolver
enst
ENST00000164305
resolver
genesymbol
PIGB
resolver
hgnc
HGNC:8959
resolver
uniprot
Q53FF9
resolver
uniprot
Q8WVN7
resolver
uniprot_entry
PIGB_HUMAN
resolver
uniprot_sec
Q53FF9
resolver
uniprot_sec
Q8WVN7
resolver
amino_acid_sequence
MRRPLSKCGMEPGGGDASLTLHGLQNRSHGKIKLRKRKSTLYFNTQEKSARRRGDLLGENIYLLLFTIALRILNCFLVQTSFVPDEYWQSLEVSHHMVFNYGYLTWEWTERLRSYTYPLIFASIYKILHLLGKDSVQLLIWIPRLAQALLSAVADVRLYSLMKQLENQEVARWVFFCQLCSWFTWYCCTRTLTNTMETVLTIIALFYYPLEGSKSMNSVKYSSLVALAFIIRPTAVILWTPLLFRHFCQEPRKLDLILHHFLPVGFVTLSLSLMIDRIFFGQWTLVQFNFLKFNVLQNWGTFYGSHPWHWYFSQGFPVILGTHLPFFIHGCYLAPKRYRILLVTVLWTLLVYSMLSHKEFRFIYPVLPFCMVFCGYSLTHLKTWKKPALSFLFLSNLFLALYTGLVHQRGTLDVMSHIQKVCYNNPNKSSASIFIMMPCHSTPYYSHVHCPLPMRFLQCPPDLTGKSHYLDEADVFYLNPLNWLHREFHDDASLPTHLITFSILEEEISAFLISSNYKRTAVFFHTHLPEGRIGSHIYVYERKLKGKFNMKMKF
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 80 (DEE80) [MIM:618580]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE80 is an autosomal recessive form characterized by onset of refractory seizures in the first year of life, severe global developmental delay and/or intellectual disability. Additional variable features include polyneuropathy, hearing loss, visual impairment, dysmorphic or coarse facial features, and distal skeletal abnormalities. {ECO:0000269|PubMed:31256876}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.-
uniprot
proteins
function
FUNCTION: Alpha-1,2-mannosyltransferase that catalyzes the transfer of the third mannose, via an alpha-1,2 bond, from a dolichol-phosphate-mannose (Dol-P-Man) to a 2-acyl-6-[alpha-D-mannosyl-(1->6)-2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol intermediate to generate a 2-acyl-6-[alpha-D-mannosyl-(1->2)-alpha-D-mannosyl-(1->6)-2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H6) and participates in the nineth step of the glycosylphosphatidylinositol-anchor biosynthesis (Probable). May also add the third mannose to a 2-acyl-6-[alpha-D-mannosyl-(1->6)-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H3) intermediate generating a 2-acyl-6-(alpha-D-mannosyl-(1->2)-alpha-D-mannosyl-(1->6)-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl)-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H4) (Probable). {ECO:0000305|PubMed:17311586, ECO:0000305|PubMed:8861954}.
uniprot
proteins
mass_dalton
65056
uniprot
proteins
pathway_participation
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000269|PubMed:8861954}.
uniprot
proteins
protein_family
Glycosyltransferase 22 family
uniprot
proteins
protein_family
PIGB subfamily
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17311586
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
31256876
uniprot
proteins
pubmed
7907094
uniprot
proteins
pubmed
8861954
uniprot
proteins
sequence_length
554
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:8861954}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 63..83; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 136..156; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 192..212; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 224..244; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 255..275; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 315..335; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 340..360; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 362..382; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 387..407; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins