Human Gene GALNT7 (uc003isz.4) Description and Page Index
  Description: Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.
RefSeq Summary (NM_017423): This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AJ002744.1, BC047468.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000265000.9/ ENSP00000265000.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr4:174,089,904-174,245,118 Size: 155,215 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr4:174,089,987-174,242,868 Size: 152,882 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr4:174,089,904-174,245,118)mRNA (may differ from genome)Protein (657 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=N-acetylgalactosaminyltransferase 7; EC=2.4.1.-; AltName: Full=Polypeptide GalNAc transferase 7; Short=GalNAc-T7; Short=pp-GaNTase 7; AltName: Full=Protein-UDP acetylgalactosaminyltransferase 7; AltName: Full=UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 7;
FUNCTION: Glycopeptide transferase involved in O-linked oligosaccharide biosynthesis, which catalyzes the transfer of an N-acetyl-D-galactosamine residue to an already glycosylated peptide. In contrast to other proteins of the family, it does not act as a peptide transferase that transfers GalNAc onto serine or threonine residue on the protein receptor, but instead requires the prior addition of a GalNAc on a peptide before adding additional GalNAc moieties. Some peptide transferase activity is however not excluded, considering that its appropriate peptide substrate may remain unidentified.
COFACTOR: Manganese (By similarity).
COFACTOR: Calcium (By similarity).
PATHWAY: Protein modification; protein glycosylation.
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity).
TISSUE SPECIFICITY: Widely expressed. Expressed in uterus, retina, kidney, small intestine, omentum, stomach and CNS.
DOMAIN: There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding (By similarity).
DOMAIN: The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity (By similarity).
SIMILARITY: Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
SIMILARITY: Contains 1 ricin B-type lectin domain.
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="";
WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=N- acetylgalactosaminyltransferase 7; URL="";

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.72 RPKM in Brain - Cerebellum
Total median expression: 286.33 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -30.9083-0.372 Picture PostScript Text
3' UTR -534.322250-0.237 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003859 - Galactosyl_T_2_met
IPR001173 - Glyco_trans_2
IPR000772 - Ricin_B_lectin

Pfam Domains:
PF00535 - Glycosyl transferase family 2
PF00652 - Ricin-type beta-trefoil lectin domain

SCOP Domains:
50370 - Ricin B-like lectins
53448 - Nucleotide-diphospho-sugar transferases

ModBase Predicted Comparative 3D Structure on Q86SF2
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0030246 carbohydrate binding
GO:0046872 metal ion binding

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006486 protein glycosylation
GO:0006493 protein O-linked glycosylation
GO:0016266 O-glycan processing

Cellular Component:
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0070062 extracellular exosome

-  Descriptions from all associated GenBank mRNAs
  BC046129 - Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7), mRNA (cDNA clone MGC:57606 IMAGE:4442080), complete cds.
BC047468 - Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7), mRNA (cDNA clone MGC:50994 IMAGE:5271749), complete cds.
AJ002744 - Homo sapiens mRNA for UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 7.
AK075488 - Homo sapiens cDNA PSEC0182 fis, clone OVARC1001636, highly similar to N-acetylgalactosaminyltransferase 7 (EC 2.4.1.-).
CU690424 - Synthetic construct Homo sapiens gateway clone IMAGE:100020941 5' read GALNT7 mRNA.
JF432835 - Synthetic construct Homo sapiens clone IMAGE:100074154 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7) gene, encodes complete protein.
KJ898953 - Synthetic construct Homo sapiens clone ccsbBroadEn_08347 GALNT7 gene, encodes complete protein.
BC035303 - Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7), mRNA (cDNA clone IMAGE:2900412), partial cds.
JD436536 - Sequence 417560 from Patent EP1572962.
AK295509 - Homo sapiens cDNA FLJ57113 complete cds, highly similar to N-acetylgalactosaminyltransferase 7 (EC 2.4.1.-).
AJ505958 - Homo sapiens partial mRNA for polypeptide N-acetylgalactosaminyltransferase 7 (GALNT7 gene).
AK128437 - Homo sapiens cDNA FLJ46580 fis, A-THYMU3042929, highly similar to Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.
JD174373 - Sequence 155397 from Patent EP1572962.
JD337919 - Sequence 318943 from Patent EP1572962.
JD081873 - Sequence 62897 from Patent EP1572962.
JD503524 - Sequence 484548 from Patent EP1572962.
JD113169 - Sequence 94193 from Patent EP1572962.
JD327748 - Sequence 308772 from Patent EP1572962.
JD093659 - Sequence 74683 from Patent EP1572962.
BC020541 - Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7), mRNA (cDNA clone IMAGE:4424424).
JD493731 - Sequence 474755 from Patent EP1572962.
JD083770 - Sequence 64794 from Patent EP1572962.
JD506738 - Sequence 487762 from Patent EP1572962.
JD039246 - Sequence 20270 from Patent EP1572962.
JD409713 - Sequence 390737 from Patent EP1572962.
JD546111 - Sequence 527135 from Patent EP1572962.
JD301302 - Sequence 282326 from Patent EP1572962.
JD509151 - Sequence 490175 from Patent EP1572962.
JD566077 - Sequence 547101 from Patent EP1572962.
JD562805 - Sequence 543829 from Patent EP1572962.
JD434506 - Sequence 415530 from Patent EP1572962.
JD549300 - Sequence 530324 from Patent EP1572962.
JD061161 - Sequence 42185 from Patent EP1572962.
JD491156 - Sequence 472180 from Patent EP1572962.
JD306000 - Sequence 287024 from Patent EP1572962.
JD503017 - Sequence 484041 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00512 - O-Glycan biosynthesis
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein Q86SF2 (Reactome details) participates in the following event(s):

R-HSA-913675 GALNTs transfer GalNAc from UDP-GalNAc to mucins to form Tn antigens
R-HSA-913709 O-linked glycosylation of mucins
R-HSA-5173105 O-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B3KQU3, GALT7_HUMAN, NM_017423, NP_059119, Q7Z5W7, Q86SF2, Q9UJ28
UCSC ID: uc003isz.4
RefSeq Accession: NM_017423
Protein: Q86SF2 (aka GALT7_HUMAN or GLT7_HUMAN)
CCDS: CCDS3815.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_017423.2
exon count: 12CDS single in 3' UTR: no RNA size: 4339
ORF size: 1974CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3542.00frame shift in genome: no % Coverage: 99.26
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.