InnateDB Protein
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IDBP-82769.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ALG13
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Protein Name
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asparagine-linked glycosylation 13 homolog (S. cerevisiae)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000251943
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InnateDB Gene
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IDBG-82767 (ALG13)
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Protein Structure
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Function |
Isoform 1: Possible multifunctional enzyme with both glycosyltransferase and deubiquitinase activities.Isoform 2: May be involved in protein N-glycosylation, second step of the dolichol-linked oligosaccharide pathway.
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Subcellular Localization |
Isoform 2: Endoplasmic reticulum {ECO:0000305}. Note=Could be recruited to the cytosolic face of the endoplasmic reticulum membrane through its interaction with ALG14.
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Disease Associations |
Congenital disorder of glycosylation 1S (CDG1S) [MIM:300884]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269PubMed:22492991}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
9
[view]
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Protein-Protein |
9
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0004577
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N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity
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GO:0008234
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cysteine-type peptidase activity
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GO:0030246
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carbohydrate binding
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GO:0044822
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poly(A) RNA binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002999
Tudor domain
IPR003323
Ovarian tumour, otubain
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PFAM |
PF00567
PF02338
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PRINTS |
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PIRSF |
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SMART |
SM00333
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NP73
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PhosphoSite |
PhosphoSite-Q9NP73
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TrEMBL |
D6RD27
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UniProt Splice Variant |
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Entrez Gene |
79868
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UniGene |
Hs.443061
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RefSeq |
NP_001244166
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HUGO |
HGNC:30881
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OMIM |
300776
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CCDS |
CCDS59173
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HPRD |
06542
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IMGT |
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EMBL |
AF220051
AK026671
AK223154
AK300394
AK302729
AK302890
AK304712
AK312229
AK316306
AK316522
AL049563
AL096764
BC005336
BC117377
BC117379
CH471120
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GenPept |
AAF67644
AAH05336
AAI17378
AAI17380
BAB15521
BAD96874
BAG35162
BAH13276
BAH13790
BAH13833
BAH14244
BAH14677
BAH14893
CAB89277
CAI43016
CAM28218
CAM28219
CAM28289
EAX02632
EAX02633
EAX02635
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