UniProt:Q96F25 ALG14

chain
  • chain:1-216
checksum 0724FEAE33A841E8
comment
  • FUNCTION Involved in protein N-glycosylation. May play a role in the second step of the dolichol-linked oligosaccharide pathway. May anchor the catalytic subunit ALG13 to the ER.SUBUNIT Heterodimer with ALG13 isoform 2 to form a functional enzyme.SUBCELLULAR LOCATION The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease may be caused by variants affecting the gene represented in this entry.DISEASE The disease may be caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the ALG14 family.
created [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference
databaseName UniProt
dbId 218403
description
  • recommendedName: UDP-N-acetylglucosamine transferase subunit ALG14 homolog
displayName UniProt:Q96F25 ALG14
geneName
  • ALG14
identifier Q96F25
isSequenceChanged false
keyword
  • Congenital myasthenic syndrome
  • Disease variant
  • Endoplasmic reticulum
  • Epilepsy
  • Intellectual disability
  • Membrane
  • Neurodegeneration
  • Nucleus
  • Reference proteome
  • Transmembrane
  • Transmembrane helix
modified [InstanceEdit:12187927] Wright, Adam, 2024-03-12
name
  • ALG14
otherIdentifier
  • 11743909_at
  • 1553954_PM_at
  • 1553954_at
  • 16689923
  • 199857
  • 2424140
  • 2424141
  • 2424143
  • 2424145
  • 2424147
  • 2424149
  • 2424150
  • 2424151
  • 2424152
  • 2424160
  • 2424170
  • 2424172
  • 2424173
  • 7917896
  • 84301_at
  • 84303_g_at
  • A_23_P257423
  • GE80389
  • GO:0003824
  • GO:0004577
  • GO:0005634
  • GO:0005635
  • GO:0005783
  • GO:0005789
  • GO:0006486
  • GO:0006488
  • GO:0006629
  • GO:0016020
  • GO:0016740
  • GO:0031965
  • GO:0036211
  • GO:0043226
  • GO:0043541
  • GO:1901135
  • HMNXSV003004589
  • Hs2.124005.1.S1_3p_at
  • ILMN_1743635
  • ILMN_2191822
  • PH_hs_0026538
  • TC01002892.hg
  • p33346
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • ALG14_HUMAN
  • A8K030
sequenceLength 216
species [Species:48887] Homo sapiens
url https://purl.uniprot.org/uniprot/Q96F25
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