MAN1B1 (mannosidase alpha class 1B member 1)

2007-02-01  

Identity

HGNC
MAN1B1
LOCATION
9q34.3
LOCUSID
11253
ALIAS
ERMAN1,ERManI,MANA-ER,MRT15
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11253
MIM: 604346
HGNC: 6823
Ensembl: ENSG00000177239

Variants:

dbSNP: 11253
ClinVar: 11253
TCGA: ENSG00000177239
COSMIC: MAN1B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177239ENST00000371587A0A087X064
ENSG00000177239ENST00000371589Q9UKM7
ENSG00000177239ENST00000475449H0YI64
ENSG00000177239ENST00000535144H0YG20
ENSG00000177239ENST00000542372H0YGQ1
ENSG00000177239ENST00000544448H0YGV7
ENSG00000177239ENST00000545539H0YFU3
ENSG00000177239ENST00000550113H0YIU0

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
N-Glycan biosynthesisKEGGko00510
N-Glycan biosynthesisKEGGhsa00510
Metabolic pathwaysKEGGhsa01100
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
N-glycan precursor trimmingKEGGhsa_M00073
N-glycan precursor trimmingKEGGM00073
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
N-glycan trimming in the ER and Calnexin/Calreticulin cycleREACTOMER-HSA-532668
Calnexin/calreticulin cycleREACTOMER-HSA-901042
ER Quality Control Compartment (ERQC)REACTOMER-HSA-901032

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
366354992023Hepatitis B virus X protein promotes MAN1B1 expression by enhancing stability of GRP78 via TRIM25 to facilitate hepatocarcinogenesis.5
366354992023Hepatitis B virus X protein promotes MAN1B1 expression by enhancing stability of GRP78 via TRIM25 to facilitate hepatocarcinogenesis.5
341620222021MAN1B1-CDG: novel patients and novel variant.3
341620222021MAN1B1-CDG: novel patients and novel variant.3
329586772020The cytoplasmic tail of human mannosidase Man1b1 contributes to catalysis-independent quality control of misfolded alpha1-antitrypsin.4
329586772020The cytoplasmic tail of human mannosidase Man1b1 contributes to catalysis-independent quality control of misfolded alpha1-antitrypsin.4
299083522019MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.7
299083522019MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.7
302187512018MAN1B1 is associated with poor prognosis and modulates proliferation and apoptosis in bladder cancer.9
302187512018MAN1B1 is associated with poor prognosis and modulates proliferation and apoptosis in bladder cancer.9
288878212017SERPINA1 and MAN1B1 polymorphisms are not linked to severe liver disease in a French cohort of alpha-1 antitrypsin deficiency children.2
288878212017SERPINA1 and MAN1B1 polymorphisms are not linked to severe liver disease in a French cohort of alpha-1 antitrypsin deficiency children.2
265770422016Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation.0
278567502016Substrate recognition and catalysis by GH47 α-mannosidases involved in Asn-linked glycan maturation in the mammalian secretory pathway.21
265770422016Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation.0

Citation

Dessen P

MAN1B1 (mannosidase alpha class 1B member 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46290/case-report-explorer/js/lib/js/lib/jquery-3.5.1.min.js