MAN1B1

GENE INFORMATION

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Gene name

MAN1B1 (HGNC Symbol)

Synonyms

MANA-ER

Description

mannosidase, alpha, class 1B, member 1 (HGNC Symbol)

Entrez gene summary

This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011]

Chromosome

9 (Chromosome progress)

Cytoband

q34.3

Chromosome location (bp)

139981379 - 140003635

Ensembl

ENSG00000177239 (version 73.37)

Entrez gene

11253

UniProt

Q9UKM7 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UKM7

Antibodypedia

MAN1B1 antibodies
 

PROTEIN VIEW

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MAN1B1-001
 
MAN1B1-003
 
MAN1B1-004
 
MAN1B1-008
 
MAN1B1-009
 
MAN1B1-010
 
MAN1B1-012
 
MAN1B1-015
 
MAN1B1-017
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MAN1B1-001 ENSP00000447256
ENST00000474902
B3KQC5
Show all »
Show » Show » 402 46 No 0
MAN1B1-003 ENSP00000448658
ENST00000475449
Show » 270 29.5 No 0
MAN1B1-004 ENSP00000360645
ENST00000371589
Q9UKM7
Show all »
Show » Show » 699 79.6 No 1
MAN1B1-008 ENSP00000441398
ENST00000535144
Show » Show » 705 79.9 No 1
MAN1B1-009 ENSP00000440314
ENST00000545539
H0YFU3
Show all »
52 6 No 0
MAN1B1-010 ENSP00000440616
ENST00000540346
Show » 190 20.6 Yes 1
MAN1B1-012 ENSP00000444966
ENST00000544448
H0YGV7
Show all »
Show » Show » 555 62.8 No 1
MAN1B1-015 ENSP00000444189
ENST00000542372
Show » 182 20.8 No 1
MAN1B1-017 ENSP00000450147
ENST00000550113
Show » 124 14.6 No 0