RBCC Red Blood Cell Collection

GLU2B_HUMAN

Source: hRBCD ; ID: IPI00026154
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Non-membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: PRKCSH , G19P1
Protein names and data: GLU2B_HUMAN , Glucosidase 2 subunit beta , 80K-H protein; Glucosidase II subunit beta; Protein kinase C substrate 60.1 kDa protein heavy chain; PKCSH; Flags: Precursor Lenght: 528 a.a.
Mass: 59425 Da
fasta formatted sequence
Function: Regulatory subunit of glucosidase II.
Pathway: Glycan metabolism; N-glycan metabolism.
Disease: ( OMIM: 174050 177060 ) Polycystic liver disease (PCLD) [MIM:174050]: A hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Endoplasmic reticulum (Potential).

Genetic variants

74 - 74 S -> N (in dbSNP:rs10406672). VAR_028761 10406672
291 - 291 A -> T (in dbSNP:rs11557488). VAR_028762 11557488
338 - 338 A -> G (in dbSNP:rs35847588). VAR_048658 35847588

Database cross-references

UniProt: P14314
Ensembl: ENST00000252455
Ensembl: ENST00000412601
Ensembl: ENST00000586486
Ensembl: ENST00000587327
Ensembl: ENST00000589838
Ensembl: ENST00000591462
MIM: 174050
MIM: 177060
neXtProt: NX_P14314
Antibodypedia: P14314 (may not find the protein thus also not any antibody)
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