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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase
Summary
- UniProt ID
- Q9UKM7
- Gene Symbol
-
- MAN1B1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Calcium
- Disease variant
- Disulfide bond
- Endoplasmic reticulum
- Glycosidase
- Intellectual disability
- Metal-binding
- Reference proteome
- Signal-anchor
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| mannosyl-oligosaccharide 1,2-alpha-mannosidase activity |
| calcium ion binding |
Sequence
MAACEGRRSGALGSSQSDFLTPPVGGAPWAVATTVVMYPPPPPPPHRDFISVTLSFGENYDNSKSWRRRSCWRKWKQLSRLQRNMILFLLAFLLFCGLLFYINLADHWKALAFRLEEEQKMRPEIAGLKPANPPVLPAPQKADTDPENLPEISSQKTQRHIQRGPPHLQIRPPSQDLKDGTQEEATKRQEAPVDPRPEGDPQRTVISWRGAVIEPEQGTELPSRRAEVPTKPPLPPARTQGTPVHLNYRQKGVIDVFLHAWKGYRKFAWGHDELKPVSRSFSEWFGLGLTLIDALDTMWILGLRKEFEEARKWVSKKLHFEKDVDVNLFESTIRILGGLLSAYHLSGDSLFLRKAEDFGNRLMPAFRTPSKIPYSDVNIGTGVAHPPRWTSDSTVAEVTSIQLEFRELSRLTGDKKFQEAVEKVTQHIHGLSGKKDGLVPMFINTHSGLFTHLGVFTLGARADSYYEYLLKQWIQGGKQETQLLEDYVEAIEGVRTHLLRHSEPSKLTFVGELAHGRFSAKMDHLVCFLPGTLALGVYHGLPASHMELAQELMETCYQMNRQMETGLSPEIVHFNLYPQPGRRDVEVKPADRHNLLRPETVESLFYLYRVTGDRKYQDWGWEILQSFSRFTRVPSGGYSSINNVQDPQKPEPRDKMESFFLGETLKYLFLLFSDDPNLLSLDAYVFNTEAHPLPIWTPA
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 142 |
|
|||
| 144 |
|
|||
| 164 |
|
|||
| 174 |
|
|||
| 186 |
|
|||
| 204 |
|
|||
| 210 |
|
|||
| 219 |
|
|||
| 223 |
|
|||
| 230 |
|
G57321FI
G29068FM
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Defective MAN1B1 causes MRT15 | Homo sapiens |
| ER Quality Control Compartment (ERQC) | Homo sapiens |
| Maturation of spike protein | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070140 | autosomal recessive cutis laxa type IIC | |
| 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 |
