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Details on Person UniProt:Q9BV10 ALG12
| Class:Id | ReferenceGeneProduct:143903 |
|---|---|
| _chainChangeLog | chain:1-488 added on Fri February 6 2015 |
| _displayName | UniProt:Q9BV10 ALG12 |
| _timestamp | 2025-02-21 20:06:17 |
| chain | chain:1-488 |
| checksum | 8D4F921C21CBC8B6 |
| comment | FUNCTION Mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. The sequential addition of sugars to dolichol pyrophosphate produces dolichol-linked oligosaccharides containing fourteen sugars, including two GlcNAcs, nine mannoses and three glucoses. Once assembled, the oligosaccharide is transferred from the lipid to nascent proteins by oligosaccharyltransferases. In the lumen of the endoplasmic reticulum, adds the eighth mannose residue in an alpha-1,6 linkage onto Man(7)GlcNAc(2)-PP-dolichol to produce Man(8)GlcNAc(2)-PP-dolichol.CATALYTIC ACTIVITY an alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphospho-di-trans,poly-cis-dolichol + a di-trans,poly-cis-dolichyl beta-D-mannosyl phosphate = an alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphospho-di-trans,poly-cis-dolichol + a di-trans,poly-cis-dolichyl phosphate + H(+)PATHWAY Protein modification; protein glycosylation.SUBCELLULAR LOCATION The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the glycosyltransferase 22 family. |
| created | [InstanceEdit:143527] Schmidt, EE, 2004-11-12 07:45:10 |
| description | recommendedName: fullName evidence="9"Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase ecNumber evidence="2 3 4"2.4.1.260 alternativeName: fullName evidence="11"Asparagine-linked glycosylation protein 12 homolog shortName: hALG12 alternativeName: Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase alternativeName: Mannosyltransferase ALG12 homolog alternativeName: Membrane protein SB87 |
| geneName | ALG12 PP14673 |
| identifier | Q9BV10 |
| isSequenceChanged | FALSE |
| keyword | Congenital disorder of glycosylation Disease variant Endoplasmic reticulum Glycosyltransferase Membrane Proteomics identification Reference proteome Transferase Transmembrane Transmembrane helix |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | ALG12 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8998151] ENSEMBL:ENSG00000182858 ALG12 [Homo sapiens] |
| secondaryIdentifier | ALG12_HUMAN A6PWM1 Q4KMH4 Q8NG10 Q96AA4 |
| sequenceLength | 488 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:449348] ALG12 [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:4722098] ALG12 R146Q [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:4722101] ALG12 G101R [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:4722108] ALG12 F142V [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:4722115] ALG12 L158P [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:4722118] ALG12 T67M [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:4722121] ALG12 Y414* [endoplasmic reticulum membrane] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:4722102] glycine 101 replaced with L-arginine [ReplacedResidue:4722117] L-threonine 67 replaced with L-methionine [ReplacedResidue:4722119] L-phenylalanine 142 replaced with L-valine [ReplacedResidue:4722120] L-leucine 158 replaced with L-proline [ReplacedResidue:4722123] L-arginine 146 replaced with L-glutamine [NonsenseMutation:4722124] Nonsense mutation at L-tyrosine 414 |
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No pathways have been reviewed or authored by UniProt:Q9BV10 ALG12 (143903)
