mannosidase alpha class 1B member 1

Summary
Gene Symbol
  • MAN1B1
Aliases
  • ER alpha 1,2-mannosidase
  • ERMan1
  • ERManI
  • MANA-ER
  • MRT15
  • Man9GlcNAc2-specific processing alpha-mannosidase
  • alpha 1,2-mannosidase
  • endoplasmic Reticulum Class I alpha-mannosidase
  • endoplasmic reticulum alpha-mannosidase 1
  • endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1
Organism
Homo sapiens (human)
External Links
NCBI Gene
11253
HGNC
6823
KEGG Gene ID
hsa:11253
PubChem
11253
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Calcium
  • Disease variant
  • Disulfide bond
  • Endoplasmic reticulum
  • Glycosidase
  • Intellectual disability
  • Metal-binding
  • Proteomics identification
  • Reference proteome
  • Signal-anchor
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
Q9UKM7
  • ER alpha-1,2-mannosidase
  • ER mannosidase 1
  • Man9GlcNAc2-specific-processing alpha-mannosidase
  • Mannosidase alpha class 1B member 1
H0YG20
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000177239

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K23741
Name
endoplasmic reticulum Man9GlcNAc2 1,2-alpha-mannosidase [EC:3.2.1.209]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R06722
Disease
Disease Ontology
Displaying entries 21 - 30 of 64 in total
DO ID Disease Name Source
DOID:0070141 autosomal recessive cutis laxa type II classic type
DOID:0070142 autosomal dominant cutis laxa
DOID:0080561 congenital disorder of glycosylation Ii
DOID:0081097 Rafiq syndrome
DOID:1003 pelvic inflammatory disease
DOID:1059 intellectual disability
DOID:10907 microcephaly
DOID:10974 oophoritis
DOID:11054 urinary bladder cancer
DOID:11193 syndactyly
The Human Phenotype Ontology
Displaying entries 61 - 67 of 67 in total
HPO ID HPO Term
HP:0010814 Abnormal position of hair whorl
HP:0010864 Intellectual disability, severe
HP:0011229 Broad eyebrow
HP:0012301 Type II transferrin isoform profile
HP:0012443 Abnormal brain morphology
HP:0012471 Thick vermilion border
HP:0012472 Eclabion
Displaying all 2 entries
Disease ID Disease Name
OMIM:614202
  • Rafiq syndrome
ORPHA:397941
  • MAN1B1-congenital disorder of glycosylation

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024