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Aliases for GALNT5 Gene

Aliases for GALNT5 Gene

  • Polypeptide N-Acetylgalactosaminyltransferase 5 2 3 5
  • Polypeptide GalNAc Transferase 5 2 3 4
  • UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase 5 (GalNAc-T5) 2 3
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 5 3 4
  • Protein-UDP Acetylgalactosaminyltransferase 5 3 4
  • Pp-GaNTase 5 3 4
  • EC 2.4.1.41 4 56
  • GALNAC-T5 3 4
  • GALNACT5 3

External Ids for GALNT5 Gene

Previous GeneCards Identifiers for GALNT5 Gene

  • GC02P156046
  • GC02P156644
  • GC02P158079
  • GC02P158316
  • GC02P157939
  • GC02P157822
  • GC02P149999

Summaries for GALNT5 Gene

Entrez Gene Summary for GALNT5 Gene

  • The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]

GeneCards Summary for GALNT5 Gene

GALNT5 (Polypeptide N-Acetylgalactosaminyltransferase 5) is a Protein Coding gene. Diseases associated with GALNT5 include Hereditary Multiple Exostoses. Among its related pathways are Metabolism of proteins and O-linked glycosylation. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT16.

UniProtKB/Swiss-Prot for GALNT5 Gene

  • 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. Has activity toward EA2 peptide substrate, but has a weak activity toward Muc2 or Muc1b substrates (By similarity).

Additional gene information for GALNT5 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GALNT5 Gene

Genomics for GALNT5 Gene

GeneHancer (GH) Regulatory Elements for GALNT5 Gene

Promoters and enhancers for GALNT5 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
GH02I157256 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 558.2 +2.1 2138 6.2 HDGF PKNOX1 SMAD1 ARNT POLR2B CBX5 E2F8 FOS REST MEF2D GALNT5 FAM133DP RN7SKP281
GH02I157255 Enhancer 0.2 dbSUPER 556.6 -1.6 -1629 0.9 GALNT5 CDK7P1
GH02I157245 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 6.3 -10.9 -10906 3.3 PKNOX1 SIN3A BATF IRF4 ZBTB40 ZNF766 ETV6 FOS RUNX3 CAVIN1 FAM133DP GALNT5 CDK7P1
GH02I157180 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.8 -75.1 -75056 4.7 HDGF ATF1 PKNOX1 TCF12 ELK1 FOS NCOA1 REST ZNF592 MBD2 GALNT5 CDK7P1 LOC105373710
GH02I158126 Enhancer 1 ENCODE 5 +872.3 872327 6.4 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 SLC30A9 ATF7 PAF1 UPP2-IT1 PKP4 GALNT5 GC02P158160 UPP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GALNT5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GALNT5 gene promoter:

Genomic Locations for GALNT5 Gene

Genomic Locations for GALNT5 Gene
chr2:157,257,598-157,314,211
(GRCh38/hg38)
Size:
56,614 bases
Orientation:
Plus strand
chr2:158,114,110-158,170,723
(GRCh37/hg19)

Genomic View for GALNT5 Gene

Genes around GALNT5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALNT5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALNT5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALNT5 Gene

Proteins for GALNT5 Gene

  • Protein details for GALNT5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z7M9-GALT5_HUMAN
    Recommended name:
    Polypeptide N-acetylgalactosaminyltransferase 5
    Protein Accession:
    Q7Z7M9
    Secondary Accessions:
    • A5PKZ1
    • Q9UGK7
    • Q9UHL6

    Protein attributes for GALNT5 Gene

    Size:
    940 amino acids
    Molecular mass:
    106266 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with EXT2. Does not interact with EXT1, EXTL1 or EXTL3.

neXtProt entry for GALNT5 Gene

Selected DME Specific Peptides for GALNT5 Gene

Q7Z7M9:
  • LGTYDPG
  • AGGLFSI
  • VLTFLDSH
  • SPPHLIKEI
  • SFKVWMCGG
  • GLIRARL
  • SVINRSP
  • PCSRVGH
  • GWLEPLL

Post-translational modifications for GALNT5 Gene

  • Glycosylation at isoforms=70, isoforms=94, posLast=108108, posLast=138138, posLast=149149, posLast=154154, isoforms=155, isoforms=159, posLast=163163, isoforms=164, posLast=192192, isoforms=207, isoforms=217, posLast=256256, isoforms=273, posLast=274274, isoforms=292, posLast=302302, isoforms=316, isoforms=362, isoforms=381, isoforms=395, isoforms=406, posLast=420420, posLast=429429, posLast=578578, posLast=776776, posLast=827827, posLast=845845, and isoforms=912

Other Protein References for GALNT5 Gene

Domains & Families for GALNT5 Gene

Gene Families for GALNT5 Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z7M9

UniProtKB/Swiss-Prot:

GALT5_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 GALNT5: view

Function for GALNT5 Gene

Molecular function for GALNT5 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-galactosamine + polypeptide = UDP + N-acetyl-alpha-D-galactosaminyl-polypeptide.
UniProtKB/Swiss-Prot Function:
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. Has activity toward EA2 peptide substrate, but has a weak activity toward Muc2 or Muc1b substrates (By similarity).

Enzyme Numbers (IUBMB) for GALNT5 Gene

Phenotypes From GWAS Catalog for GALNT5 Gene

Gene Ontology (GO) - Molecular Function for GALNT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030246 carbohydrate binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GALNT5: view
genes like me logo Genes that share phenotypes with GALNT5: view

Animal Models for GALNT5 Gene

MGI Knock Outs for GALNT5:

Animal Model Products

miRNA for GALNT5 Gene

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GALNT5 Gene

Localization for GALNT5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALNT5 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 GALNT5 gene
Compartment Confidence
golgi apparatus 5
extracellular 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for GALNT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005575 cellular_component ND --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GALNT5: view

Pathways & Interactions for GALNT5 Gene

genes like me logo Genes that share pathways with GALNT5: view

Pathways by source for GALNT5 Gene

UniProtKB/Swiss-Prot Q7Z7M9-GALT5_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for GALNT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006024 glycosaminoglycan biosynthetic process TAS 10545594
GO:0006486 protein glycosylation IEA --
GO:0016266 O-glycan processing TAS --
genes like me logo Genes that share ontologies with GALNT5: view

No data available for SIGNOR curated interactions for GALNT5 Gene

Drugs & Compounds for GALNT5 Gene

(3) Drugs for GALNT5 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 GALNT5 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 GALNT5: view

Transcripts for GALNT5 Gene

Unigene Clusters for GALNT5 Gene

UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GALNT5 Gene

No ASD Table

Relevant External Links for GALNT5 Gene

GeneLoc Exon Structure for
GALNT5
ECgene alternative splicing isoforms for
GALNT5

Expression for GALNT5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GALNT5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GALNT5 Gene

This gene is overexpressed in Minor Salivary Gland (x7.5), Colon - Transverse (x5.3), Vagina (x4.9), and Esophagus - Mucosa (x4.7).

Protein differential expression in normal tissues from HIPED for GALNT5 Gene

This gene is overexpressed in Breast (48.0) and Stomach (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GALNT5 Gene



Protein tissue co-expression partners for GALNT5 Gene

NURSA nuclear receptor signaling pathways regulating expression of GALNT5 Gene:

GALNT5

SOURCE GeneReport for Unigene cluster for GALNT5 Gene:

Hs.269027
genes like me logo Genes that share expression patterns with GALNT5: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GALNT5 Gene

Orthologs for GALNT5 Gene

This gene was present in the common ancestor of animals.

Orthologs for GALNT5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GALNT5 33 34
  • 99.26 (n)
cow
(Bos Taurus)
Mammalia GALNT5 33 34
  • 85.13 (n)
dog
(Canis familiaris)
Mammalia GALNT5 34
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Galnt5 33 16 34
  • 81.29 (n)
rat
(Rattus norvegicus)
Mammalia Galnt5 33
  • 80.79 (n)
oppossum
(Monodelphis domestica)
Mammalia GALNT5 34
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GALNT5 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves GALNT5 33 34
  • 58.83 (n)
lizard
(Anolis carolinensis)
Reptilia GALNT5 34
  • 51 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG2103 35
  • 38 (a)
GalNAc-T1 35 34
  • 37 (a)
CG7297 35
  • 32 (a)
CG7304 35
  • 31 (a)
CG7579 35
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea Y47D3A.23 35
  • 47 (a)
H38K22.5c 35
  • 45 (a)
Y39E4B.12b 35
  • 42 (a)
Y39E4B.12c 35
  • 42 (a)
gly-9 34
  • 36 (a)
OneToOne
Species where no ortholog for GALNT5 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • zebrafish (Danio rerio)

Evolution for GALNT5 Gene

ENSEMBL:
Gene Tree for GALNT5 (if available)
TreeFam:
Gene Tree for GALNT5 (if available)

Paralogs for GALNT5 Gene

(14) SIMAP similar genes for GALNT5 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with GALNT5: view

Variants for GALNT5 Gene

Sequence variations from dbSNP and Humsavar for GALNT5 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
VAR_035991 A breast cancer sample p.Glu507Asp
VAR_035992 A breast cancer sample p.Leu692Phe
rs1000002853 -- 157,278,143(+) T/A intron_variant
rs1000040614 -- 157,275,914(+) G/T intron_variant
rs1000065718 -- 157,308,095(+) A/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GALNT5 Gene

Variant ID Type Subtype PubMed ID
nsv834432 CNV gain 17160897
nsv1011505 CNV gain 25217958
esv3593056 CNV loss 21293372
esv2661479 CNV deletion 23128226

Variation tolerance for GALNT5 Gene

Residual Variation Intolerance Score: 36.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.21; 84.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GALNT5 Gene

Human Gene Mutation Database (HGMD)
GALNT5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALNT5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALNT5 Gene

Disorders for GALNT5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GALNT5 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hereditary multiple exostoses
  • hereditary multiple exostoses 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GALNT5

genes like me logo Genes that share disorders with GALNT5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GALNT5 Gene

Publications for GALNT5 Gene

  1. A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses. (PMID: 10545594) Simmons AD … Lovett M (Human molecular genetics 1999) 2 3 4 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery. (PMID: 25813380) Campos D … Reis CA (Molecular & cellular proteomics : MCP 2015) 3 58
  4. Clinical significance of polypeptide N-acetylgalactosaminyl transferase-5 (GalNAc-T5) expression in patients with gastric cancer. (PMID: 24619076) He H … Sun Y (British journal of cancer 2014) 3 58
  5. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 58

Products for GALNT5 Gene

Sources for GALNT5 Gene

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