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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
  • Protein-UDP Acetylgalactosaminyltransferase 8 3 4
  • Pp-GaNTase 8 3 4
  • EC 2.4.1.41 4 56
  • GALNAC-T8 3 4
  • UDP-GalNAc: Polypeptide N-Acetylgalactosaminyltransferase 8 3
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 8 4
  • Probable 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 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 GALNT18.

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.

Additional gene information for GALNT8 Gene

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

Genomics for GALNT8 Gene

GeneHancer (GH) Regulatory Elements for GALNT8 Gene

Promoters and enhancers for GALNT8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I004719 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 550.8 0.0 -23 2.1 POU5F1 SIN3A GALNT8 LOC101929549 DYRK4 ENSG00000255639
GH12I004809 Promoter 0.9 EPDnew 550.2 +88.8 88792 0.1 MAZ SP3 SP2 ZNF398 ZFHX2 PATZ1 ZSCAN5C KLF9 PRDM10 EGR2 ENSG00000256988 GALNT8 KCNA6 GC12P005508
GH12I004647 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.8 -71.3 -71289 2.4 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B ZNF207 AKAP3 GC12P005656 NDUFA9 LOC103568124 GALNT8 LOC101929549 DYRK4 LOC100420673 ENSG00000256381 ENSG00000272921
GH12I004857 Enhancer 0.9 Ensembl ENCODE 9.8 +137.6 137582 0.6 CTCF RB1 SIN3A EBF1 IRF4 RAD21 ZNF335 GLIS2 ZNF366 ZBTB48 KCNA1 LOC101929549 GALNT8 GC12P005660 ENSG00000255608
GH12I004858 Enhancer 0.8 ENCODE 9.8 +138.3 138269 0.2 GTF2F1 CTCF TFAP4 PKNOX1 ESRRA MAX SIN3A ZIC2 RARA TEAD3 KCNA1 GALNT8 LOC101929549 GC12P005660 ENSG00000255608
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GALNT8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GALNT8 gene promoter:

Genomic Locations for GALNT8 Gene

Genomic Locations for GALNT8 Gene
chr12:4,720,341-4,851,927
(GRCh38/hg38)
Size:
131,587 bases
Orientation:
Plus strand
chr12:4,829,507-4,960,277
(GRCh37/hg19)

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 posLast=8585, posLast=107107, and posLast=160160

Other Protein References for GALNT8 Gene

Domains & Families for GALNT8 Gene

Gene Families for GALNT8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

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.
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

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 --
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity TAS --
GO:0005251 delayed rectifier potassium channel activity IDA --
genes like me logo Genes that share ontologies with GALNT8: view
genes like me logo Genes that share phenotypes with GALNT8: view

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 2
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS --
GO:0008076 voltage-gated potassium channel complex ISS --
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

Pathways by source for GALNT8 Gene

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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS --
GO:0016266 O-glycan processing TAS --
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 0
Manganese Approved Nutra 37
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
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:

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
ECgene alternative splicing isoforms for
GALNT8

Expression for GALNT8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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).

NURSA nuclear receptor signaling pathways regulating expression of GALNT8 Gene:

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 33
  • 98.88 (n)
dog
(Canis familiaris)
Mammalia GALNT8 33 34
  • 83.89 (n)
cow
(Bos Taurus)
Mammalia GALNT8 33 34
  • 79.66 (n)
oppossum
(Monodelphis domestica)
Mammalia GALNT8 34
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 58 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Galntl6 34
  • 26 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 52 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii LOC568645 33
  • 60.82 (n)
GALNT8 (4 of 5) 34
  • 55 (a)
OneToMany
galnt8a 34
  • 53 (a)
OneToMany
galnt8b 34
  • 51 (a)
OneToMany
GALNT8 (3 of 5) 34
  • 50 (a)
OneToMany
GALNT8 (1 of 5) 34
  • 48 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7579 34
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gly-8 34
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10417 34
  • 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)

Paralogs for GALNT8 Gene

Variants for GALNT8 Gene

Sequence variations from dbSNP and Humsavar for GALNT8 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000033466 -- 4,740,412(+) T/G intron_variant
rs1000086677 -- 4,740,713(+) A/G intron_variant
rs1000124317 -- 4,764,838(+) C/T intron_variant
rs1000173811 -- 4,767,505(+) T/C intron_variant
rs1000224886 -- 4,771,708(+) C/T intron_variant

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
nsv483060 CNV loss 15286789
nsv1054218 CNV loss 25217958
nsv1040098 CNV gain 25217958
esv3892128 CNV loss 25118596
esv3628371 CNV gain 21293372
esv3628370 CNV loss 21293372
esv3628367 CNV loss 21293372
esv3378236 CNV insertion 20981092
esv3307893 CNV mobile element insertion 20981092
esv2668070 CNV deletion 23128226
dgv246e214 CNV loss 21293372

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 58
  2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  3. 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 58
  4. Single-nucleotide polymorphisms in GALNT8 are associated with the response to interferon therapy for chronic hepatitis C. (PMID: 23034592) Nakano R … Chayama K (The Journal of general virology 2013) 3 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58

Products for GALNT8 Gene

Sources for GALNT8 Gene

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