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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
GALNT12 79695 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)  9CRCS1; GalNAc-T12 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
19617566   2009Cell line : -

Source : ATCC

Sample Type : CRC tumor and normal tissue

No. of Sample : -

Stage : -

Immunohistochemistry, western Blotting.Mutation-The 8 GALNT12 mutations are evidence that this gene may have a role in colorectal cancers. These data also provides evidence that mutations of GALNT12 may be detected in the normal tissues of individuals who develop cancer.


Gene Details



Chromosome: 9; NC_000009.11 (101569981..101612363)

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Gene Type protein coding
Gene Family Glycosyltransferase family 2 domain containing
Description This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.[provided by RefSeq, Mar 2011]  
Chromosome 9
Location 9q22.33
Start 98807699  
End 98850081  
Strand -  
Gene Sequence

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Length 42383  
OMIM ID 610290   
HGNC ID HGNC:19877   
Unigene ID Hs.47099    
Ensembl ID ENSG00000119514   
PharmGKB ID -   

mRNA Information


mRNA ID NM_024642.4
Exon join(1..371,15558..15727,19054..19243,24074..24259, 27551..27668,29274..29450,32304..32435,36398..36511, 38279..38425,41254..42383)  
mRNA Sequence

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Length 2752  



CDS Information


   
Location join(1..371,15558..15727,19054..19243,24074..24259, 27551..27668,29274..29450,32304..32435,36398..36511, 38279..38425,41254..41394)
CDS Sequence

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CCDS ID CCDS6737.1



Protein Information


      
Protein IDNP_078918.3
Protein NameUDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)
Molecular Wt. (Da)66808
Protein Sequence

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Length 581  
Uniprot IDQ12778
Ensembl Protein ID ENSP00000368880  



Post-translational Modification Information (Source : HPRD)


No matching records could be found.

Enzyme Information


   
EC2.4.1.41
Namepolypeptide N-acetylgalactosaminyltransferase
protein-UDP acetylgalactosaminyltransferase
UDP-GalNAc:polypeptide N-acetylgalactosaminyl transferase
UDP-N-acetylgalactosamine:kappa-casein polypeptide N-acetylgalactosaminyltransferase
uridine diphosphoacetylgalactosamine-glycoprotein acetylgalactosaminyltransferase
glycoprotein acetylgalactosaminyltransferase
polypeptide-N-acetylgalactosamine transferase
UDP-acetylgalactosamine-glycoprotein acetylgalactosaminyltransferase
UDP-acetylgalactosamine:peptide-N-galactosaminyltransferase
UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase
UDP-N-acetylgalactosamine-glycoprotein N-acetylgalactosaminyltransferase
UDP-N-acetylgalactosamine-protein N-acetylgalactosaminyltransferase
UDP-N-acetylgalactosamine:polypeptide N-acetylgalactosaminyltransferase
UDP-N-acetylgalactosamine:protein N-acetylgalactosaminyl transferase
ppGalNAc-T
ClassTransferases; Glycosyltransferases; Hexosyltransferases
SysnameUDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyl-transferase  
SubstrateUDP-N-acetyl-alpha-D-galactosamine [CPD:C00203]; polypeptide  
ProductUDP [CPD:C00015]; N-acetyl-alpha-D-galactosaminyl-polypeptide  
Reaction (IUBMB)



PPi Information


(Click to view network : Source STRING)      View   

                                             
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
4582MUC11152P15941in vitro12135769   
4583MUC211828NP_002448.2in vitro12135769   
4589MUC711759NP_689504.2in vitro12135769   


Pathway Information


            
Pathway Name Pathway ID
Metabolic pathways hsa01100
Mucin type O-Glycan biosynthesis hsa00512


Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd02510139-433  pp-GalNAc-T
cl11394139-433  Glyco_tranf_GTA_type superfamily
cd00161447-576  RICIN
cl22458447-576  RICIN superfamily
pfam00535139-322  Glycos_transf_2
cd00761140-254  Glyco_tranf_GTA_type
cd02525139-357  Succinoglycan_BP_ExoA
cd04179140-270  DPM_DPG-synthase_like
cd04186140-363  GT_2_like_c
cd04184136-229  GT2_RfbC_Mx_like
cd04192140-281  GT_2_like_e
cd06423140-254  CESA_like
cd04188140-254  DPG_synthase
cd06442140-253  DPM1_like
cd04187140-229  DPM1_like_bac
cd02522139-351  GT_2_like_a
cd06439131-228  CESA_like_1
cd06434138-230  GT2_HAS
pfam02709305-365  Glyco_transf_7C
pfam00652445-574  Ricin_B_lectin
COG0463134-429  WcaA
smart00458453-577  RICIN
TIGR03965170-363  mycofact_glyco
COG1215113-361  BcsA
pfam13641136-367  Glyco_tranf_2_3
pfam10111139-345  Glyco_tranf_2_2
TIGR04283139-249  glyco_like_mftF
PRK10073136-228  PRK10073


Ontology Information


   
HPRD ID1297
Molecular ClassEnzyme: Galactosyltransferase
Molecular FunctionTransmembrane receptor protein tyrosine kinase activity (GO:0004714)
Biological ProcessCell communication (GO:0007154); Signal transduction (GO:0007165)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO