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11253 MAN1B1

11253

MAN1B1

mannosidase alpha class 1B member 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition mannosidase alpha class 1B member 1

研究结论

Date Results Publications
2020-12-12 13:29:00 The cytoplasmic tail of human mannosidase Man1b1 contributes to catalysis-independent quality control of misfolded alpha1-antitrypsin. 32958677
2019-03-09 12:57:00 Novel MAN1B1 variants were identified in patients with facial dysmorphism, hypotonia, truncal obesity and in some, behavioural problems. 29908352
2018-10-27 10:29:00 Results show that MAN1B1 expression was higher in bladder cancer (BC) tissues than those in normal tissues. Its overexpression was associated with poor prognosis. Furthermore, MAN1B1 seems to act as an oncogene in BC, which improved the likelihood of MAN1B1 taking on a promising prognostic biomarker. 30218751
2018-07-07 12:11:00 The two genetic associations with severe liver disease that had been suspected previously (one SNP for SERPINA1 and another for MAN1B1) were not confirmed in our cohort. For MAN1B1, four major haplotypes were identified but the prevalence of PHT did not significantly differ between them. 28887821
2018-04-07 10:17:00 in the bound substrate complex, hydrophobic stacking interactions between Trp residues and the glycan core anchor the base of the glycan structure to the enzyme cleft 27856750

名称对应

Type IDs
Synonymous ERMAN1, ERManI, MANA-ER, MRT15
Gene
UniProtKB-ID: MA1B1_HUMAN
UniprotKB: Q9UKM7
UniParc: UPI0000169E6E
EMBL: BC006079, AF148509, AL807752, BC002953, AL929554, AY358465, AF145732
Ensembl: ENSG00000177239
KO: hsa:11253
Nucleutide sequences
EMBL-CDS: AAD45504.1, AAH02953.1, AAH06079.1, AAQ88830.1, AAF03215.1
Gene_ORFName: UNQ747/PRO1477
Ensembl_TRS: ENST00000371589
Protein sequencees
Ensembl_PRO: ENSP00000360645
RefSeq: XP_006717008.1, NP_057303.2, XP_024303171.1, XP_016869728.1
Others
UniRef100: UniRef100_Q9UKM7
UniRef90: UniRef90_Q9UKM7
UniRef50: UniRef50_Q9UKM7
UniGene: Hs.279881
CCDS: CCDS7029.1

全选

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