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ALG14 R104* [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5633229
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
UDP-N-acetylglucosamine transferase subunit ALG14 homolog, ALG14_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with N-glycosylation of proteins (Homo sapiens)
Defective ALG14 causes ALG14-CMS (Homo sapiens)
Defective ALG14 does not transfer GlcNAc from UDP-GlcNAc to GlcNAcDOLP (Homo sapiens)
ALG13:ALG14 mutants [endoplasmic reticulum membrane] (Homo sapiens)
ALG14 mutants [endoplasmic reticulum membrane] (Homo sapiens)
ALG14 R104* [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q96F25 ALG14
Gene Names
ALG14
Chain
chain:1-216
Reference Genes
BioGPS Gene:199857 ALG14
COSMIC (genes):ALG14 ALG14
CTD Gene:199857 ALG14
dbSNP Gene:199857 ALG14
ENSEMBL:ENSG00000172339 ALG14
ENSEMBL_homo_sapiens_GENE:ENSG00000172339.10 ALG14
HGNC:28287 ALG14
KEGG Gene (Homo sapiens):199857 ALG14
Monarch:199857 ALG14
NCBI Gene:199857 ALG14
OMIM:612866 ALG14
UCSC:Q96F25 ALG14
Reference Transcript
RefSeq:NM_001305242.1 ALG14
RefSeq:NM_144988.3 ALG14
Other Identifiers
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
Participates
as a member of
ALG14 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
ALG14 P65L [endoplasmic reticulum membrane]
ALG14 [endoplasmic reticulum membrane]
Modified Residues
Name
Nonsense mutation at L-arginine 104
Coordinate
104
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name
Identifier
Synonyms
congenital myasthenic syndrome
DOID:3635
Cross References
RefSeq
NP_001292171.1
,
NP_659425.1
OpenTargets
ENSG00000172339
HPA
ENSG00000172339-ALG14
GeneCards
Q96F25
Ensembl
ENSP00000359224
,
ENSG00000172339
,
ENST00000370205
PRO
Q96F25
Pharos - Targets
Q96F25
Orphanet
21980
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