GALNT14 (polypeptide N-acetylgalactosaminyltransferase 14)

Gene

• Entrez ID: 79623
• Gene name: Polypeptide N-acetylgalactosaminyltransferase 14
• Gene symbol: GALNT14
• Synonyms (NCBI Gene): GALNT15, GalNac-T10, GalNac-T14
• Chromosome: 2
• Chromosome location: 2p23.1
• Summary: 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 threonine

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201118996	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT731368	hsa-miR-125a-5p	Luciferase reporter assay, qRT-PCR, Western blot	27133078
MIRT731368	hsa-miR-125a-5p	Luciferase reporter assay, qRT-PCR, Western blot	27133078
MIRT731368	hsa-miR-125a-5p	Luciferase reporter assay, qRT-PCR, Western blot	27133078
MIRT731368	hsa-miR-125a-5p	Luciferase reporter assay, qRT-PCR, Western blot	27133078
MIRT1010950	hsa-miR-1238	CLIP-seq
MIRT1010951	hsa-miR-125b	CLIP-seq
MIRT1010952	hsa-miR-136	CLIP-seq
MIRT1010953	hsa-miR-3119	CLIP-seq
MIRT1010954	hsa-miR-3120-5p	CLIP-seq
MIRT1010955	hsa-miR-3606	CLIP-seq
MIRT1010956	hsa-miR-3674	CLIP-seq
MIRT1010957	hsa-miR-3909	CLIP-seq
MIRT1010958	hsa-miR-3925-3p	CLIP-seq
MIRT1010959	hsa-miR-3978	CLIP-seq
MIRT1010960	hsa-miR-4261	CLIP-seq
MIRT1010961	hsa-miR-4319	CLIP-seq
MIRT1010962	hsa-miR-4324	CLIP-seq
MIRT1010963	hsa-miR-4329	CLIP-seq
MIRT1010964	hsa-miR-4464	CLIP-seq
MIRT1010965	hsa-miR-4496	CLIP-seq
MIRT1010966	hsa-miR-4652-3p	CLIP-seq
MIRT1010967	hsa-miR-4732-3p	CLIP-seq
MIRT1010968	hsa-miR-4748	CLIP-seq
MIRT1010969	hsa-miR-4753-3p	CLIP-seq
MIRT1010970	hsa-miR-670	CLIP-seq
MIRT1010971	hsa-miR-766	CLIP-seq
MIRT2233068	hsa-miR-1343	CLIP-seq
MIRT2233069	hsa-miR-3194-3p	CLIP-seq
MIRT2233070	hsa-miR-4283	CLIP-seq
MIRT2233071	hsa-miR-637	CLIP-seq
MIRT2233072	hsa-miR-760	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0004653	Function	Polypeptide N-acetylgalactosaminyltransferase activity	IBA
GO:0004653	Function	Polypeptide N-acetylgalactosaminyltransferase activity	IEA
GO:0004653	Function	Polypeptide N-acetylgalactosaminyltransferase activity	TAS
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	IBA
GO:0006493	Process	Protein O-linked glycosylation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016266	Process	Protein O-linked glycosylation via N-acetyl-galactosamine	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 608225
• HGNC: 22946
• e!Ensembl: ENSG00000158089

Protein

• UniProt ID: Q96FL9
• Protein name: Polypeptide N-acetylgalactosaminyltransferase 14 (EC 2.4.1.41) (Polypeptide GalNAc transferase 14) (GalNAc-T14) (pp-GaNTase 14) (Protein-UDP acetylgalactosaminyltransferase 14) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 14)
• Protein 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
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00535	Glycos_transf_2	114 → 292	Glycosyl transferase family 2	Family
  PF00652	Ricin_B_lectin	420 → 547	Ricin-type beta-trefoil lectin domain	Domain

• Tissue specificity: 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,
• Sequence:

  MRRLTRRLVLPVFGVLWITVLLFFWVTKRKLEVPTGPEVQTPKPSDADWDDLWDQFDERR
  YLNAKKWRVGDDPYKLYAFNQRESERISSNRAIPDTRHLRCTLLVYCTDLPPTSIIITFH
  NEARSTLLRTIRSVLNRTPTHLIREIILVDDFSNDPDDCKQLIKLPKVKCLRNNERQGLV
  RSRIRGADIAQGTTLTFLDSHCEVNRDWLQPLLHRVKEDYTRVVCPVIDIINLDTFTYIE
  SASELRGGFDWSLHFQWEQLSPEQKARRLDPTEPIRTPIIAGGLFVIDKAWFDYLGKYDM
  DMDIWGGENFEISFRVWMCGGSLEIVPCSRVGHVFRKKHPYVFPDGNANTYIKNTKRTAE
  VWMDEYKQYYYAARPFALERPFGNVESRLDLRKNLRCQSFKWYLENIYPELSIPKESSIQ
  KGNIRQRQKCLESQRQNNQETPNLKLSPCAKVKGEDAKSQVWAFTYTQQILQEELCLSVI
  TLFPGAPVVLVLCKNGDDRQQWTKTGSHIEHIASHLCLDTDMFGDGTENGKEIVVNPCES
  SLMSQHWDMVSS

• Sequence length: 552

Pathways

KEGG:

Mucin type O-glycan biosynthesis
Other types of O-glycan biosynthesis
Metabolic pathways

Reactome:

O-linked glycosylation of mucins

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Nonimmune Hydrops Fetalis	non-immune hydrops fetalis	rs201118996	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Diabetes	Type 2 diabetes	N/A	N/A	GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma Mucinous	Associate	27124048
Adenocarcinoma of Lung	Associate	32064933
Breast Neoplasms	Associate	20356418, 28347399
Bronchopulmonary Dysplasia	Associate	37478211, 38277517
Carcinoma Hepatocellular	Associate	27124048, 36376274, 36938726, 38151984
Carcinoma Intraductal Noninfiltrating	Associate	20356418
Colorectal Neoplasms	Associate	27124048
Esophageal Squamous Cell Carcinoma	Associate	28418863
Gastrointestinal Neoplasms	Associate	36938726
Hepatitis B	Associate	38151984
Inflammatory Bowel Diseases	Associate	36140740
Lymphoma Non Hodgkin	Associate	31292201
Neoplasm Metastasis	Stimulate	28347399
Neoplasms	Associate	27124048
Neuroblastoma	Associate	26309160
Otitis Media	Associate	23133572
Ovarian Neoplasms	Stimulate	34643088
Rectal Neoplasms	Associate	35409691
Volvulus Of Midgut	Associate	30632303