This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem ... See more...

Aliases for GALNT8 Gene

Aliases for GALNT8 Gene

  • Polypeptide N-Acetylgalactosaminyltransferase 8 2 3 5
  • Polypeptide GalNAc Transferase 8 2 3 4
  • UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase 8 (GalNAc-T8) 2 3
  • Probable Polypeptide N-Acetylgalactosaminyltransferase 8 3 4
  • Protein-UDP Acetylgalactosaminyltransferase 8 3 4
  • Pp-GaNTase 8 3 4
  • EC 2.4.1.41 4 52
  • UDP-GalNAc: Polypeptide N-Acetylgalactosaminyltransferase 8 3
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 8 4
  • GalNAc Transferase 8 3
  • GALNAC-T8 3
  • GalNAc-T8 4

External Ids for GALNT8 Gene

Previous GeneCards Identifiers for GALNT8 Gene

  • GC12P004567
  • GC12P004722
  • GC12P004700
  • GC12P004829

Summaries for GALNT8 Gene

Entrez Gene Summary for GALNT8 Gene

  • This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. [provided by RefSeq, Jul 2008]

GeneCards Summary for GALNT8 Gene

GALNT8 (Polypeptide N-Acetylgalactosaminyltransferase 8) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and voltage-gated potassium channel activity. An important paralog of this gene is ENSG00000255639.

UniProtKB/Swiss-Prot Summary for GALNT8 Gene

  • Probably catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.

Additional gene information for GALNT8 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GALNT8 Gene

Genomics for GALNT8 Gene

GeneHancer (GH) Regulatory Elements for GALNT8 Gene

Promoters and enhancers for GALNT8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GALNT8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GALNT8

Top Transcription factor binding sites by QIAGEN in the GALNT8 gene promoter:
  • Pax-2
  • Pax-2a
  • STAT5A

Genomic Locations for GALNT8 Gene

Genomic Locations for GALNT8 Gene
chr12:4,720,400-4,851,927
(GRCh38/hg38)
Size:
131,528 bases
Orientation:
Plus strand
chr12:4,829,507-4,960,277
(GRCh37/hg19)
Size:
130,771 bases
Orientation:
Plus strand

Genomic View for GALNT8 Gene

Genes around GALNT8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALNT8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALNT8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALNT8 Gene

Proteins for GALNT8 Gene

  • Protein details for GALNT8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NY28-GALT8_HUMAN
    Recommended name:
    Probable polypeptide N-acetylgalactosaminyltransferase 8
    Protein Accession:
    Q9NY28
    Secondary Accessions:
    • B2RU02

    Protein attributes for GALNT8 Gene

    Size:
    637 amino acids
    Molecular mass:
    72851 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

neXtProt entry for GALNT8 Gene

Selected DME Specific Peptides for GALNT8 Gene

Q9NY28:
  • VEILPCS
  • LLKEIILVDD
  • IFVNEALS

Post-translational modifications for GALNT8 Gene

  • Glycosylation at Asn85, Asn107, and Asn160
  • Modification sites at PhosphoSitePlus

Other Protein References for GALNT8 Gene

Domains & Families for GALNT8 Gene

Gene Families for GALNT8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Voltage-gated ion channels

Protein Domains for GALNT8 Gene

Blocks:
  • Glycosyl transferase, family 2
  • Ricin B lectin domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GALNT8 Gene

GenScript: Design optimal peptide antigens:
  • UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 8 (GALT8_HUMAN)
  • Polypeptide N-acetylgalactosaminyltransferase 8 (Q68VJ3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NY28

UniProtKB/Swiss-Prot:

GALT8_HUMAN :
  • 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.
  • Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
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.
  • The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.
Family:
  • Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
genes like me logo Genes that share domains with GALNT8: view

Function for GALNT8 Gene

Molecular function for GALNT8 Gene

UniProtKB/Swiss-Prot Function:
Probably catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:23956, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:12788, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:53604, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138; EC=2.4.1.41;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-threonyl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-threonyl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:52424, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11689, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:87075; EC=2.4.1.41;.

Enzyme Numbers (IUBMB) for GALNT8 Gene

Phenotypes From GWAS Catalog for GALNT8 Gene

Gene Ontology (GO) - Molecular Function for GALNT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity TAS,IEA --
GO:0005216 ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IEA --
GO:0005515 protein binding IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with GALNT8: view
genes like me logo Genes that share phenotypes with GALNT8: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GALNT8 Gene

Localization for GALNT8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALNT8 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GALNT8 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 4
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
nucleus 1
cytosol 1
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GALNT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IBA 21873635
GO:0008076 voltage-gated potassium channel complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GALNT8: view

Pathways & Interactions for GALNT8 Gene

genes like me logo Genes that share pathways with GALNT8: view

UniProtKB/Swiss-Prot Q9NY28-GALT8_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for GALNT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0016266 O-glycan processing TAS --
GO:0051260 protein homooligomerization IEA --
genes like me logo Genes that share ontologies with GALNT8: view

No data available for SIGNOR curated interactions for GALNT8 Gene

Drugs & Compounds for GALNT8 Gene

(3) Drugs for GALNT8 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
Manganese Approved Nutra 51
Uridine 5'-diphosphate Experimental Pharma 0

(3) Additional Compounds for GALNT8 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Lactosamine
  • 2-amino-2-Deoxy-4-O-beta-D-galactopyranosyl-D-glucose
  • 2-amino-2-Deoxy-4-O-beta-delta-galactopyranosyl-delta-glucose
  • beta-D-Galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose
  • beta-D-Galactopyranosyl-(1->4)-D-glucosamine
  • beta-delta-Galactopyranosyl-(1->4)-2-amino-2-deoxy-delta-glucose
13000-25-4
UDP-N-acetyl-alpha-D-galactosamine
  • (2R,3R,4R,5R,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphate (non-preferred name)
  • URIDINE-diphosphATE-N-acetylgalactosamine
  • (2R,3R,4R,5R,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphoric acid (non-preferred name)
  • UDP-N-Acetyl-a-D-galactosamine
  • UDP-N-Acetyl-α-D-galactosamine
Uridine diphosphate-N-acetylgalactosamine
  • UDP-N-Acetyl-D-galactosamine
  • UDP-N-Acetyl-delta-galactosamine
  • UDP-N-Acetylgalactosamine
  • Uridine 5'-diphospho-N-acetylgalactosamine
  • Uridine diphosphate-N-acetyl-D-galactosamine
7277-98-7
genes like me logo Genes that share compounds with GALNT8: view

Transcripts for GALNT8 Gene

mRNA/cDNA for GALNT8 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GALNT8 Gene

No ASD Table

Relevant External Links for GALNT8 Gene

GeneLoc Exon Structure for
GALNT8

Expression for GALNT8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GALNT8 Gene

mRNA differential expression in normal tissues according to GTEx for GALNT8 Gene

This gene is overexpressed in Testis (x14.3), Colon - Transverse (x8.6), and Small Intestine - Terminal Ileum (x6.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GALNT8

SOURCE GeneReport for Unigene cluster for GALNT8 Gene:

Hs.511985

mRNA Expression by UniProt/SwissProt for GALNT8 Gene:

Q9NY28-GALT8_HUMAN
Tissue specificity: Widely expressed. Expressed in heart, skeletal muscle, kidney, liver, small intestine and placenta. Weakly expressed in colon, thymus, spleen, lung and leukocyte.

Evidence on tissue expression from TISSUES for GALNT8 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with GALNT8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GALNT8 Gene

Orthologs for GALNT8 Gene

This gene was present in the common ancestor of animals.

Orthologs for GALNT8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GALNT8 30
  • 98.88 (n)
dog
(Canis familiaris)
Mammalia GALNT8 31 30
  • 83.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GALNT8 31 30
  • 79.66 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GALNT8 31
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 58 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Galntl6 31
  • 26 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 52 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii LOC568645 30
  • 60.82 (n)
GALNT8 (4 of 5) 31
  • 55 (a)
OneToMany
galnt8a 31
  • 53 (a)
OneToMany
galnt8b 31
  • 51 (a)
OneToMany
GALNT8 (3 of 5) 31
  • 50 (a)
OneToMany
GALNT8 (1 of 5) 31
  • 48 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7579 31
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gly-8 31
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10417 31
  • 29 (a)
ManyToMany
Species where no ortholog for GALNT8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GALNT8 Gene

ENSEMBL:
Gene Tree for GALNT8 (if available)
TreeFam:
Gene Tree for GALNT8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GALNT8: view image

Paralogs for GALNT8 Gene

(23) SIMAP similar genes for GALNT8 Gene using alignment to 4 proteins:

  • GALT8_HUMAN
  • H0YFU9_HUMAN
  • H0YGU9_HUMAN
  • Q68VJ3_HUMAN
genes like me logo Genes that share paralogs with GALNT8: view

Variants for GALNT8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GALNT8 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs10849133 -. - p.Tyr53Aspp.Tyr53Asn
rs1468556 - p.Val515Phe
rs16931676 - p.Glu234Lys
rs16931692 - p.Asp630Gly
rs199920896 - p.Ala337Val

Additional dbSNP identifiers (rs#s) for GALNT8 Gene

Structural Variations from Database of Genomic Variants (DGV) for GALNT8 Gene

Variant ID Type Subtype PubMed ID
dgv246e214 CNV loss 21293372
esv2668070 CNV deletion 23128226
esv3307893 CNV mobile element insertion 20981092
esv3378236 CNV insertion 20981092
esv3628367 CNV loss 21293372
esv3628370 CNV loss 21293372
esv3628371 CNV gain 21293372
esv3892128 CNV loss 25118596
nsv1040098 CNV gain 25217958
nsv1054218 CNV loss 25217958
nsv483060 CNV loss 15286789
nsv589 CNV insertion 18451855
nsv832318 CNV gain 17160897

Variation tolerance for GALNT8 Gene

Residual Variation Intolerance Score: 91.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.68; 78.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GALNT8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALNT8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALNT8 Gene

Disorders for GALNT8 Gene

Additional Disease Information for GALNT8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for GALNT8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GALNT8 Gene

Publications for GALNT8 Gene

  1. Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene. (PMID: 10767557) White KE … Econs MJ (Gene 2000) 2 3 4 54
  2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41 54
  3. Dynamic chromosomal tuning of a novel GAU1 lncing driver at chr12p13.32 accelerates tumorigenesis. (PMID: 29741668) Chai P … Fan X (Nucleic acids research 2018) 3 54
  4. A High-Density Map for Navigating the Human Polycomb Complexome. (PMID: 27705803) Hauri S … Beisel C (Cell reports 2016) 3 54
  5. Clinically significant missense variants in human GALNT3, GALNT8, GALNT12, and GALNT13 genes: intriguing in silico findings. (PMID: 24038392) Hussain MRM … Al-Aama JY (Journal of cellular biochemistry 2014) 3 54

Products for GALNT8 Gene

Sources for GALNT8 Gene