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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
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 8 3 4
  • Protein-UDP Acetylgalactosaminyltransferase 8 3 4
  • Pp-GaNTase 8 3 4
  • EC 2.4.1.41 4 63
  • GALNAC-T8 3 4
  • UDP-GalNAc: Polypeptide N-Acetylgalactosaminyltransferase 8 3
  • GalNAc Transferase 8 3

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 and O-linked glycosylation. GO annotations related to this gene include carbohydrate binding and voltage-gated potassium channel activity. An important paralog of this gene is GALNT9.

UniProtKB/Swiss-Prot 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GALNT8 Gene

Genomics for GALNT8 Gene

Regulatory Elements for GALNT8 Gene

Genomic Location for GALNT8 Gene

Chromosome:
12
Start:
4,720,341 bp from pter
End:
4,851,927 bp from pter
Size:
131,587 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

Proteomics data for GALNT8 Gene at MOPED

Selected DME Specific Peptides for GALNT8 Gene

Post-translational modifications for GALNT8 Gene

  • Glycosylation at Asn 85, Asn 107, and Asn 160
  • Modification sites at PhosphoSitePlus

Other Protein References for GALNT8 Gene

Domains & Families for GALNT8 Gene

Gene Families for GALNT8 Gene

Suggested Antigen Peptide Sequences for GALNT8 Gene

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.
  • Contains 1 ricin B-type lectin domain.
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 CatalyticActivity:
UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP + N-acetyl-alpha-D-galactosaminyl-polypeptide.
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.

Enzyme Numbers (IUBMB) for GALNT8 Gene

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

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for GALNT8 Gene COMPARTMENTS Subcellular localization image for GALNT8 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for GALNT8 Gene

Pathways & Interactions for GALNT8 Gene

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

Pathways by source for GALNT8 Gene

UniProtKB/Swiss-Prot Q9NY28-GALT8_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for GALNT8 Gene

Gene Ontology (GO) - Biological Process for GALNT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043687 post-translational protein modification TAS --
GO:0051260 protein homooligomerization IEA --
GO:0055085 transmembrane transport 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
Uridine-5'-Diphosphate Experimental Pharma 0
Manganese Pharma 32
calcium Nutra 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
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

Unigene Clusters for GALNT8 Gene

UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8):
Representative Sequences:

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

No ASD Table

Relevant External Links for GALNT8 Gene

GeneLoc Exon Structure for
GALNT8
ECgene alternative splicing isoforms for
GALNT8

Expression for GALNT8 Gene

mRNA expression in normal human tissues 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).

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.
genes like me logo Genes that share expression patterns with GALNT8: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia GALNT8 35
  • 79.66 (n)
  • 73.85 (a)
GALNT8 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GALNT8 35
  • 83.89 (n)
  • 78.52 (a)
GALNT8 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GALNT8 35
  • 98.88 (n)
  • 97.82 (a)
oppossum
(Monodelphis domestica)
Mammalia GALNT8 36
  • 63 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Galntl6 36
  • 26 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 58 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 52 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii LOC568645 35
  • 60.82 (n)
  • 58.28 (a)
GALNT8 (1 of 5) 36
  • 48 (a)
OneToMany
GALNT8 (3 of 5) 36
  • 50 (a)
OneToMany
GALNT8 (4 of 5) 36
  • 55 (a)
OneToMany
galnt8a 36
  • 53 (a)
OneToMany
galnt8b 36
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7579 36
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gly-8 36
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10417 36
  • 29 (a)
ManyToMany
Species with no ortholog for GALNT8:
  • 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)

Paralogs for GALNT8 Gene

Paralogs for GALNT8 Gene

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

Variants for GALNT8 Gene

Sequence variations from dbSNP and Humsavar for GALNT8 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_019581 -
VAR_019582 -
rs34776842 - 4,744,640(-) CAGCT(C/T)CCCAG reference, missense
rs34829532 - 4,745,503(-) TGTCA(A/G)AACGA reference, missense
rs199920896 - 4,745,578(+) CGATG(C/T)ACTGC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv832318 CNV Gain 17160897
nsv589 CNV Insertion 18451855
esv272167 CNV Insertion 20981092
esv2668070 CNV Deletion 23128226

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)

Relevant External Links for GALNT8 Gene

HapMap Linkage Disequilibrium report
GALNT8

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

Disorders for GALNT8 Gene

Relevant External Links for GALNT8

Genetic Association Database (GAD)
GALNT8
Human Genome Epidemiology (HuGE) Navigator
GALNT8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GALNT8

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 K.E. … Econs M.J. (Gene 2000) 2 3 4 67
  2. Clinically significant missense variants in human GALNT3, GALNT8, GALNT12, and GALNT13 genes: intriguing in silico findings. (PMID: 24038392) Hussain M.R. … Al-Aama J.Y. (J. Cell. Biochem. 2014) 3
  3. Single-nucleotide polymorphisms in GALNT8 are associated with the response to interferon therapy for chronic hepatitis C. (PMID: 23034592) Nakano R. … Chayama K. (J. Gen. Virol. 2013) 3
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3
  5. Initiation of O-glycan synthesis in IgA1 hinge region is determined by a single enzyme, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N- acetylgalactosaminyltransferase 2. (PMID: 12438318) Iwasaki H. … Narimatsu H. (J. Biol. Chem. 2003) 3

Products for GALNT8 Gene

Sources for GALNT8 Gene

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