ENSG00000115339


Homo sapiens

Features
Gene ID: ENSG00000115339
  
Biological name :GALNT3
  
Synonyms : GALNT3 / polypeptide N-acetylgalactosaminyltransferase 3 / Q14435
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q24.3
Gene start: 165747591
Gene end: 165794682
  
Corresponding Affymetrix probe sets: 203397_s_at (Human Genome U133 Plus 2.0 Array)   203398_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000376465
Ensembl peptide - ENSP00000413694
Ensembl peptide - ENSP00000413477
Ensembl peptide - ENSP00000412643
Ensembl peptide - ENSP00000399880
Ensembl peptide - ENSP00000397112
Ensembl peptide - ENSP00000391104
Ensembl peptide - ENSP00000386955
NCBI entrez gene - 2591     See in Manteia.
OMIM - 601756
RefSeq - NM_004482
RefSeq - XM_005246449
RefSeq - XM_011510929
RefSeq - XM_017003770
RefSeq Peptide - NP_004473
swissprot - E7EUL0
swissprot - Q14435
swissprot - H7BZS4
swissprot - C9JY57
swissprot - C9JXX2
swissprot - C9JW45
swissprot - C9J388
swissprot - C9J2C3
Ensembl - ENSG00000115339
  
Related genetic diseases (OMIM): 211900 - Tumoral calcinosis, hyperphosphatemic, familial, 1, 211900
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 GALNT3ENSDARG00000108649Danio rerio
 GALNT3ENSGALG00000010960Gallus gallus
 Galnt3ENSMUSG00000026994Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GALNT6 / Q8NCL4 / polypeptide N-acetylgalactosaminyltransferase 6ENSG0000013962964
GALNT4 / Q8N4A0 / polypeptide N-acetylgalactosaminyltransferase 4ENSG0000025759441
POC1B-GALNT4 / POC1B-GALNT4 readthroughENSG0000025907540
Q8IUC8 / GALNT13 / polypeptide N-acetylgalactosaminyltransferase 13ENSG0000014427839
Q8IXK2 / GALNT12 / polypeptide N-acetylgalactosaminyltransferase 12ENSG0000011951439
GALNT1 / Q10472 / polypeptide N-acetylgalactosaminyltransferase 1ENSG0000014142938
Q8N428 / GALNT16 / polypeptide N-acetylgalactosaminyltransferase 16ENSG0000010062635
GALNT5 / Q7Z7M9 / polypeptide N-acetylgalactosaminyltransferase 5ENSG0000013654233
Q8NCW6 / GALNT11 / polypeptide N-acetylgalactosaminyltransferase 11ENSG0000017823433
GALNT2 / Q10471 / polypeptide N-acetylgalactosaminyltransferase 2ENSG0000014364133
Q96FL9 / GALNT14 / polypeptide N-acetylgalactosaminyltransferase 14ENSG0000015808931
Q7Z4T8 / GALNTL5 / polypeptide N-acetylgalactosaminyltransferase like 5ENSG0000010664825


Protein motifs (from Interpro)
Interpro ID Name
 IPR000772  Ricin B, lectin domain
 IPR001173  Glycosyltransferase 2-like
 IPR027791  Galactosyltransferase, C-terminal
 IPR029044  Nucleotide-diphospho-sugar transferases
 IPR035992  Ricin B-like lectins


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process NAS
 biological_processGO:0006486 protein glycosylation IEA
 biological_processGO:0008543 fibroblast growth factor receptor signaling pathway TAS
 biological_processGO:0016266 O-glycan processing TAS
 biological_processGO:0018242 protein O-linked glycosylation via serine IDA
 biological_processGO:0018243 protein O-linked glycosylation via threonine IDA
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0032580 Golgi cisterna membrane IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004653 polypeptide N-acetylgalactosaminyltransferase activity TAS
 molecular_functionGO:0005509 calcium ion binding IDA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0030145 manganese ion binding IDA
 molecular_functionGO:0030246 carbohydrate binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
FGFR3c ligand binding and activation
Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC)
O-linked glycosylation of mucins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000118972 FGF23 / Q9GZV9 / fibroblast growth factor 23  / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr