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ALG12 L158P [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-4722115
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase, ALG12_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 ALG12 causes CDG-1g (Homo sapiens)
Defective ALG12 does not add mannose to the N-glycan precursor (Homo sapiens)
ALG12 mutants [endoplasmic reticulum membrane] (Homo sapiens)
ALG12 L158P [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9BV10 ALG12
Gene Names
ALG12, PP14673
Chain
chain:1-488
Reference Genes
BioGPS Gene:79087 ALG12
COSMIC (genes):ALG12 ALG12
CTD Gene:79087 ALG12
dbSNP Gene:79087 ALG12
ENSEMBL:ENSG00000182858 ALG12
ENSEMBL_homo_sapiens_GENE:ENSG00000182858.14 ALG12
HGNC:19358 ALG12
KEGG Gene (Homo sapiens):79087 ALG12
Monarch:79087 ALG12
NCBI Gene:79087 ALG12
OMIM:607144 ALG12
UCSC:Q9BV10 ALG12
Reference Transcript
RefSeq:NM_024105.3 ALG12
Other Identifiers
11735729_a_at
16936255
218444_3p_at
218444_PM_at
218444_at
3965397
3965398
3965399
3965400
3965401
3965402
3965403
3965406
3965407
3965408
3965409
3965410
3965411
3965412
3965413
3965417
3965418
3965419
3965421
3965423
3965424
3965425
3965426
54946_at
79087
8076851
A_23_P60718
GE86702
GO:0000009
GO:0000030
GO:0003824
GO:0005783
GO:0005789
GO:0006457
GO:0006486
GO:0006487
GO:0006488
GO:0006629
GO:0016020
GO:0016740
GO:0016757
GO:0036211
GO:0043226
GO:0052917
GO:1901135
HMNXSV003013679
ILMN_1743995
PH_hs_0004474
TC22000904.hg
g13129113_3p_at
g13129113_3p_s_at
g13129113_3p_x_at
Participates
as a member of
ALG12 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Other forms of this molecule
ALG12 T67M [endoplasmic reticulum membrane]
ALG12 G101R [endoplasmic reticulum membrane]
ALG12 R146Q [endoplasmic reticulum membrane]
ALG12 F142V [endoplasmic reticulum membrane]
ALG12 Y414* [endoplasmic reticulum membrane]
ALG12 [endoplasmic reticulum membrane]
Modified Residues
Name
L-leucine 158 replaced with L-proline
Coordinate
158
PsiMod
L-leucine removal [MOD:01641]
A protein modification that effectively removes or replaces an L-leucine.
L-proline residue [MOD:00024]
A protein modification that effectively converts a source amino acid residue to L-proline.
Disease
Name
Identifier
Synonyms
congenital disorder of glycosylation type I
DOID:0050570
Cross References
RefSeq
NP_077010.1
OpenTargets
ENSG00000182858
IntEnz
2.4.1.260
HPA
ENSG00000182858-ALG12
GeneCards
Q9BV10
Ensembl
ENST00000330817
,
ENSP00000333813
,
ENSG00000182858
PRO
Q9BV10
Pharos - Targets
Q9BV10
Orphanet
15495
HMDB Protein
HMDBP11609
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q96GX1 TCTN2
1
TCTN2 [ciliary membrane]
(R-HSA-5626661)
0.527
2
UniProt:Q9UJ14 GGT7
2
GGT7(473-662) [plasma membrane]
(R-HSA-1247919)
GGT7(1-472) [plasma membrane]
(R-HSA-1247890)
0.527
2
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