GALNT14 (polypeptide N-acetylgalactosaminyltransferase 14)

Gene

• Entrez ID: 79623
• Gene name: Polypeptide N-acetylgalactosaminyltransferase 14
• Gene symbol: GALNT14
• Synonyms: 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	TAS
GO:0004653	Function	Polypeptide N-acetylgalactosaminyltransferase activity	IEA
GO:0005794	Component	Golgi apparatus	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0016266	Process	O-glycan processing	TAS
GO:0018215	Process	Protein phosphopantetheinylation	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

• 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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	22843504
Hydrops fetalis	Hydrops Fetalis, Non-Immune	rs28935477, rs1131691986	26036949
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137