ALG13
UDP-N-acetylglucosamine transferase subunit ALG13
Also known as: ALG13_HUMAN, CDG1S, CXorf45, FLJ23018, GLT28D1, MDS031, TDRD13, YGL047W
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NP73
- Gene
- ALG13
- Ensembl
- ENSG00000101901
- Chromosome
- X
- Canonical length
- 1137 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Vesicles,Cytosol
OverviewNCBI Gene
The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Canonical amino-acid sequenceUniProt
1137 residues, UniProt reviewed canonical sequence.
>Q9NP73|ALG13
1 MKCVFVTVGT TSFDDLIACV SAPDSLQKIE SLGYNRLILQ IGRGTVVPEP FSTESFTLDV
61 YRYKDSLKED IQKADLVISH AGAGSCLETL EKGKPLVVVI NEKLMNNHQL ELAKQLHKEG
121 HLFYCTCRVL TCPGQAKSIA SAPGKCQDSA ALTSTAFSGL DFGLLSGYLH KQALVTATHP
181 TCTLLFPSCH AFFPLPLTPT LYKMHKGWKN YCSQKSLNEA SMDEYLGSLG LFRKLTAKDA
241 SCLFRAISEQ LFCSQVHHLE IRKACVSYMR ENQQTFESYV EGSFEKYLER LGDPKESAGQ
301 LEIRALSLIY NRDFILYRFP GKPPTYVTDN GYEDKILLCY SSSGHYDSVY SKQFQSSAAV
361 CQAVLYEILY KDVFVVDEEE LKTAIKLFRS GSKKNRNNAV TGSEDAHTDY KSSNQNRMEE
421 WGACYNAENI PEGYNKGTEE TKSPENPSKM PFPYKVLKAL DPEIYRNVEF DVWLDSRKEL
481 QKSDYMEYAG RQYYLGDKCQ VCLESEGRYY NAHIQEVGNE NNSVTVFIEE LAEKHVVPLA
541 NLKPVTQVMS VPAWNAMPSR KGRGYQKMPG GYVPEIVISE MDIKQQKKMF KKIRGKEVYM
601 TMAYGKGDPL LPPRLQHSMH YGHDPPMHYS QTAGNVMSNE HFHPQHPSPR QGRGYGMPRN
661 SSRFINRHNM PGPKVDFYPG PGKRCCQSYD NFSYRSRSFR RSHRQMSCVN KESQYGFTPG
721 NGQMPRGLEE TITFYEVEEG DETAYPTLPN HGGPSTMVPA TSGYCVGRRG HSSGKQTLNL
781 EEGNGQSENG RYHEEYLYRA EPDYETSGVY STTASTANLS LQDRKSCSMS PQDTVTSYNY
841 PQKMMGNIAA VAASCANNVP APVLSNGAAA NQAISTTSVS SQNAIQPLFV SPPTHGRPVI
901 ASPSYPCHSA IPHAGASLPP PPPPPPPPPP PPPPPPPPPP PPPPPALDVG ETSNLQPPPP
961 LPPPPYSCDP SGSDLPQDTK VLQYYFNLGL QCYYHSYWHS MVYVPQMQQQ LHVENYPVYT
1021 EPPLVDQTVP QCYSEVRRED GIQAEASAND TFPNADSSSV PHGAVYYPVM SDPYGQPPLP
1081 GFDSCLPVVP DYSCVPPWHP VGTAYGGSSQ IHGAINPGPI GCIAPSPPAS HYVPQGMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ALG13 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.55
- Highest tissue expression
- 22 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 22 nTPM
- liver: 22 nTPM
- lymph node: 20 nTPM
- urinary bladder: 20 nTPM
- epididymis: 19 nTPM
- rectum: 18 nTPM
Single-cell type
- somatotrophs: 356 nCPM
- sertoli cells: 343 nCPM
- lactotrophs: 303 nCPM
- mast cells: 242 nCPM
- microglia: 209 nCPM
- b-cells: 203 nCPM
Immune cell
- basophil: 40 nTPM
- myeloid DC: 19 nTPM
- eosinophil: 17 nTPM
- intermediate monocyte: 16 nTPM
- classical monocyte: 16 nTPM
- T-reg: 15 nTPM
Brain region
- white matter: 29 nTPM
- hypothalamus: 25 nTPM
- pons: 24 nTPM
- choroid plexus: 24 nTPM
- medulla oblongata: 24 nTPM
- midbrain: 23 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ALG13.
Disease | AllUniProt
Conditions ALG13 is implicated in, by any mechanism.
- Developmental and epileptic encephalopathy 36 (DEE36) MIM:300884
Disease | GeneticClinVar
11 pathogenic / likely-pathogenic of 1,447 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.16
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.15
- DepMap mean gene effect
- -0.78
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- cysteine-type peptidase activity
- N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Tudor domain
- OTU domain
- Papain-like cysteine peptidase superfamily
- OTU-like cysteine protease
- Glycosyl transferase, family 28, C-terminal
- UDP-N-acetylglucosamine transferase subunit Alg13-like
- Bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13, OTU domain
- Glycosyltransferase family 28 C-terminal domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ALG13 as an antibody target. Whether an autoantibody or antibody against ALG13 could matter depends on whether native ALG13 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ALG13 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ALG13 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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