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Aliases for GALNT14 Gene

Aliases for GALNT14 Gene

  • Polypeptide N-Acetylgalactosaminyltransferase 14 2 3 5
  • Polypeptide GalNAc Transferase 14 2 3 4
  • UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase 14 (GalNAc-T14) 2 3
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 14 3 4
  • Protein-UDP Acetylgalactosaminyltransferase 14 3 4
  • Pp-GaNTase 14 3 4
  • EC 2.4.1.41 4 56
  • GalNac-T14 3 4
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase T10 3
  • Polypeptide N-Acetylgalactosaminyltransferase 15 3
  • GalNAc-T10 3
  • GALNT15 3

External Ids for GALNT14 Gene

Previous GeneCards Identifiers for GALNT14 Gene

  • GC02M031107
  • GC02M031044
  • GC02M030871

Summaries for GALNT14 Gene

Entrez Gene Summary for GALNT14 Gene

  • This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in cancer progression and response to chemotherapy. [provided by RefSeq, Jun 2016]

GeneCards Summary for GALNT14 Gene

GALNT14 (Polypeptide N-Acetylgalactosaminyltransferase 14) is a Protein Coding gene. 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 GALNT14 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. Displays activity toward mucin-derived peptide substrates such as Muc2, Muc5AC, Muc7, and Muc13 (-58). May be involved in O-glycosylation in kidney.

Gene Wiki entry for GALNT14 Gene

Additional gene information for GALNT14 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GALNT14 Gene

Genomics for GALNT14 Gene

GeneHancer (GH) Regulatory Elements for GALNT14 Gene

Promoters and enhancers for GALNT14 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
GH02I031137 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 554.9 +23.5 23529 1.6 SIN3A ZNF2 ZNF335 GLIS2 ZNF143 EGR2 SMARCA5 ZNF202 SP3 USF2 GALNT14 PIR55208
GH02I031332 Enhancer 1.1 Ensembl ENCODE 18 -174.1 -174066 7.4 PKNOX1 FEZF1 GLI4 IRF4 ZNF213 ARID2 ZNF143 ATF7 FOS RUNX3 GALNT14 ENSG00000234579 GC02P031291 PIR52882 GC02M031380 XDH
GH02I031216 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.2 -56.9 -56932 4.1 HDGF PKNOX1 BACH1 PAX8 EBF1 BATF ZIC2 IRF4 ETV6 IKZF2 CAPN14 GALNT14 ENSG00000234579 RNA5SP90 GC02P031184
GH02I031283 Enhancer 0.6 ENCODE dbSUPER 17.5 -122.0 -122022 0.2 JUND PKNOX1 FOS EHD3 GALNT14 CAPN14 RPL21P70 PIR43580
GH02I031281 Enhancer 0.7 ENCODE dbSUPER 14.4 -120.8 -120766 2 SRF GATA3 JUND JUN FOS EHD3 GALNT14 CAPN14 RPL21P70 PIR43580
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GALNT14 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GALNT14 gene promoter:

Genomic Locations for GALNT14 Gene

Genomic Locations for GALNT14 Gene
chr2:30,910,465-31,161,688
(GRCh38/hg38)
Size:
251,224 bases
Orientation:
Minus strand
chr2:31,133,333-31,378,068
(GRCh37/hg19)

Genomic View for GALNT14 Gene

Genes around GALNT14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALNT14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALNT14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALNT14 Gene

Proteins for GALNT14 Gene

  • Protein details for GALNT14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FL9-GLT14_HUMAN
    Recommended name:
    Polypeptide N-acetylgalactosaminyltransferase 14
    Protein Accession:
    Q96FL9
    Secondary Accessions:
    • B3KV89
    • Q4ZG75
    • Q53SU1
    • Q53TJ0
    • Q8IVI4
    • Q9BRH1
    • Q9H827
    • Q9H9J8

    Protein attributes for GALNT14 Gene

    Size:
    552 amino acids
    Molecular mass:
    64321 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB14795.1; Type=Miscellaneous discrepancy; Note=Chimeric at the C-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for GALNT14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GALNT14 Gene

Selected DME Specific Peptides for GALNT14 Gene

Q96FL9:
  • VVCPVID
  • VGHVFRK
  • AEVWMDEYK
  • CGGSLEI
  • FLDSHCE
  • WYLENIYP
  • MDIWGGEN
  • CQSFKWYL
  • PCSRVGH

Post-translational modifications for GALNT14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for GALNT14 Gene

Gene Families for GALNT14 Gene

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

Graphical View of Domain Structure for InterPro Entry

Q96FL9

UniProtKB/Swiss-Prot:

GLT14_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 GALNT14: view

Function for GALNT14 Gene

Molecular function for GALNT14 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. Displays activity toward mucin-derived peptide substrates such as Muc2, Muc5AC, Muc7, and Muc13 (-58). May be involved in O-glycosylation in kidney.

Enzyme Numbers (IUBMB) for GALNT14 Gene

Phenotypes From GWAS Catalog for GALNT14 Gene

Gene Ontology (GO) - Molecular Function for GALNT14 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 GALNT14: view
genes like me logo Genes that share phenotypes with GALNT14: view

Animal Models for GALNT14 Gene

MGI Knock Outs for GALNT14:

Animal Model Products

  • Taconic Biosciences Mouse Models for GALNT14

miRNA for GALNT14 Gene

miRTarBase miRNAs that target GALNT14

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GALNT14 Gene

Localization for GALNT14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALNT14 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 GALNT14 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for GALNT14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
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 GALNT14: view

Pathways & Interactions for GALNT14 Gene

genes like me logo Genes that share pathways with GALNT14: view

Pathways by source for GALNT14 Gene

UniProtKB/Swiss-Prot Q96FL9-GLT14_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for GALNT14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0016266 O-glycan processing TAS --
genes like me logo Genes that share ontologies with GALNT14: view

No data available for SIGNOR curated interactions for GALNT14 Gene

Drugs & Compounds for GALNT14 Gene

(6) Drugs for GALNT14 Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 2906
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 1970
Mitoxantrone Approved, Investigational Pharma 275
calcium Approved Nutra 0
Manganese Approved Nutra 37

(3) Additional Compounds for GALNT14 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 GALNT14: view

Transcripts for GALNT14 Gene

Unigene Clusters for GALNT14 Gene

UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GALNT14 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21a ·
SP1: - - -
SP2: - - - - - - -
SP3: - - - - - - - -
SP4:
SP5: - - - -
SP6: -
SP7: - - - - - - - -
SP8:

ExUns: 21b · 21c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for GALNT14 Gene

GeneLoc Exon Structure for
GALNT14
ECgene alternative splicing isoforms for
GALNT14

Expression for GALNT14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GALNT14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GALNT14 Gene

This gene is overexpressed in Whole Blood (x10.2), Kidney - Cortex (x9.6), and Esophagus - Mucosa (x5.1).

Protein differential expression in normal tissues from HIPED for GALNT14 Gene

This gene is overexpressed in Skin (60.3) and Peripheral blood mononuclear cells (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GALNT14 Gene



Protein tissue co-expression partners for GALNT14 Gene

NURSA nuclear receptor signaling pathways regulating expression of GALNT14 Gene:

GALNT14

SOURCE GeneReport for Unigene cluster for GALNT14 Gene:

Hs.468058

mRNA Expression by UniProt/SwissProt for GALNT14 Gene:

Q96FL9-GLT14_HUMAN
Tissue specificity: Detected in renal tubules (at protein level). Highly expressed in fetal and adult kidney. Widely expressed at low level. Weakly expressed in whole brain, cerebellum, thymus, lung, mammary gland, liver, stomach, small intestine, colon, pancreas, spleen, bladder, uterus, placenta, testis, ovary, skeletal muscle, leukocyte, B-cell, bone marrow, fetal brain, fetal thymus, fetal lung, fetal liver, fetal small intestine, fetal spleen, fetal skeletal and fetus. Detected in renal tubules (at protein level).

Evidence on tissue expression from TISSUES for GALNT14 Gene

  • Nervous system(4.7)
  • Eye(4.2)
  • Stomach(4.1)
  • Kidney(3.7)
genes like me logo Genes that share expression patterns with GALNT14: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GALNT14 Gene

Orthologs for GALNT14 Gene

This gene was present in the common ancestor of animals.

Orthologs for GALNT14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GALNT14 33
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia GALNT14 33 34
  • 89.73 (n)
cow
(Bos Taurus)
Mammalia GALNT14 33 34
  • 89.01 (n)
rat
(Rattus norvegicus)
Mammalia Galnt14 33
  • 87.86 (n)
mouse
(Mus musculus)
Mammalia Galnt14 33 16 34
  • 86.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GALNT14 34
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GALNT14 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves GALNT14 33 34
  • 72.89 (n)
lizard
(Anolis carolinensis)
Reptilia GALNT14 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galnt14 33
  • 69.59 (n)
zebrafish
(Danio rerio)
Actinopterygii galnt14 33 34
  • 63.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta pgant2 34
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gly-4 34
  • 38 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10774 34
  • 45 (a)
OneToMany
Species where no ortholog for GALNT14 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 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)
  • wheat (Triticum aestivum)

Evolution for GALNT14 Gene

ENSEMBL:
Gene Tree for GALNT14 (if available)
TreeFam:
Gene Tree for GALNT14 (if available)

Paralogs for GALNT14 Gene

Variants for GALNT14 Gene

Sequence variations from dbSNP and Humsavar for GALNT14 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs201118996 likely-pathogenic, Non-immune hydrops fetalis 30,924,226(-) G/A coding_sequence_variant, intron_variant, non_coding_transcript_variant, stop_gained
rs1000000004 -- 31,032,286(-) T/C intron_variant
rs1000001129 -- 31,012,765(-) A/G intron_variant
rs1000013900 -- 31,067,320(-) C/A intron_variant
rs1000014359 -- 30,948,915(-) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GALNT14 Gene

Variant ID Type Subtype PubMed ID
dgv1880n106 CNV deletion 24896259
dgv690e199 CNV deletion 23128226
esv1683223 CNV deletion 17803354
esv22531 CNV loss 19812545
esv2674441 CNV deletion 23128226
esv2719868 CNV deletion 23290073
esv2719869 CNV deletion 23290073
esv2719870 CNV deletion 23290073
esv2719871 CNV deletion 23290073
esv2845014 CNV deletion 24192839
esv3554489 CNV deletion 23714750
esv3567 CNV loss 18987735
esv3590211 CNV loss 21293372
esv3590212 CNV loss 21293372
esv3590213 CNV loss 21293372
esv3590215 CNV loss 21293372
nsv1071985 CNV deletion 25765185
nsv1127717 CNV deletion 24896259
nsv833659 CNV gain 17160897
nsv955061 CNV deletion 24416366

Variation tolerance for GALNT14 Gene

Residual Variation Intolerance Score: 65.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.65; 86.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GALNT14 Gene

Human Gene Mutation Database (HGMD)
GALNT14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALNT14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALNT14 Gene

Disorders for GALNT14 Gene

Additional Disease Information for GALNT14

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

No disorders were found for GALNT14 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GALNT14 Gene

Publications for GALNT14 Gene

  1. Cloning and characterization of a novel UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, pp-GalNAc-T14. (PMID: 12507512) Wang H … Narimatsu H (Biochemical and biophysical research communications 2003) 2 3 4 58
  2. Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure. (PMID: 22174851) Lingappa JR … Partners in Prevention HSV/HIV Transmission Study Team (PloS one 2011) 3 44 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. 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
  5. Development of immunohistochemistry assays to assess GALNT14 and FUT3/6 in clinical trials of dulanermin and drozitumab. (PMID: 20179215) Stern HM … Ashkenazi A (Clinical cancer research : an official journal of the American Association for Cancer Research 2010) 3 4 58

Products for GALNT14 Gene

Sources for GALNT14 Gene

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