GALNT5 (polypeptide N-acetylgalactosaminyltransferase 5)

Gene

• Entrez ID: 11227
• Gene name: Polypeptide N-acetylgalactosaminyltransferase 5
• Gene symbol: GALNT5
• Synonyms (NCBI Gene): GALNAC-T5, GALNACT5
• Chromosome: 2
• Chromosome location: 2q24.1
• Summary: 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-gala

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016895	hsa-miR-335-5p	Microarray	18185580
MIRT664834	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT664833	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT664832	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT664831	hsa-miR-3148	HITS-CLIP	23824327
MIRT664834	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT664833	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT664832	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT664831	hsa-miR-3148	HITS-CLIP	23824327
MIRT1011411	hsa-miR-128	CLIP-seq
MIRT1011412	hsa-miR-144	CLIP-seq
MIRT1011413	hsa-miR-27a	CLIP-seq
MIRT1011414	hsa-miR-27b	CLIP-seq
MIRT1011415	hsa-miR-4506	CLIP-seq
MIRT1011416	hsa-miR-5096	CLIP-seq
MIRT1011417	hsa-miR-513a-5p	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	IDA	10545594
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:0006024	Process	Glycosaminoglycan biosynthetic process	TAS	10545594
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: 615129
• HGNC: 4127
• e!Ensembl: ENSG00000136542

Protein

• UniProt ID: Q7Z7M9
• Protein name: Polypeptide N-acetylgalactosaminyltransferase 5 (EC 2.4.1.41) (Polypeptide GalNAc transferase 5) (GalNAc-T5) (pp-GaNTase 5) (Protein-UDP acetylgalactosaminyltransferase 5) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 5)
• 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. Has activity toward EA2 peptide substrate, but has a weak acti
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00535	Glycos_transf_2	499 → 682	Glycosyl transferase family 2	Family
  PF00652	Ricin_B_lectin	810 → 932	Ricin-type beta-trefoil lectin domain	Domain

• Sequence:

  MNRIRKFFRGSGRVLAFIFVASVIWLLFDMAALRLSFSEINTRVIKEDIVRRERIGFRVQ
  PDQGKIFYSSIKEMKPPLRGHGKGAWGKENVRKTEESVLKVEVDLDQTQRERKMQNALGR
  GKVVPLWHPAHLQTLPVTPNKQKTDGRGTKPEASSHQGTPKQTTAQGAPKTSFIAAKGTQ
  VVKISVHMGRVSLKQEPRKSHSPSSDTSKLAAERDLNVTISLSTDRPKQRSQAVANERAH
  PASTAVPKSGEAMALNKTKTQSKEVNANKHKANTSLPFPKFTVNSNRLRKQSINETPLGS
  LSKDDGARGAHGKKLNFSESHLVIITKEEEQKADPKEVSNSKTKTIFPKVLGKSQSKHIS
  RNRSEMSSSSLAPHRVPLSQTNHALTGGLEPAKINITAKAPSTEYNQSHIKALLPEDSGT
  HQVLRIDVTLSPRDPKAPGQFGRPVVVPHGKEKEAERRWKEGNFNVYLSDLIPVDRAIED
  TRPAGCAEQLVHNNLPTTSVIMCFVDEVWSTLLRSVHSVINRSPPHLIKEILLVDDFSTK
  DYLKDNLDKYMSQFPKVRILRLKERHGLIRARLAGAQNATGDVLTFLDSHVECNVGWLEP
  LLERVYLSRKKVACPVIEVINDKDMSYMTVDNFQRGIFVWPMNFGWRTIPPDVIAKNRIK
  ETDTIRCPVMAGGLFSIDKSYFFELGTYDPGLDVWGGENMELSFKVWMCGGEIEIIPCSR
  VGHIFRNDNPYSFPKDRMKTVERNLVRVAEVWLDEYKELFYGHGDHLIDQGLDVGNLTQQ
  RELRKKLKCKSFKWYLENVFPDLRAPIVRASGVLINVALGKCISIENTTVILEDCDGSKE
  LQQFNYTWLRLIKCGEWCIAPIPDKGAVRLHPCDNRNKGLKWLHKSTSVFHPELVNHIVF
  ENNQQLLCLEGNFSQKILKVAACDPVKPYQKWKFEKYYEA

• Sequence length: 940

Pathways

KEGG:

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

Reactome:

O-linked glycosylation of mucins

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31828095	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31731384	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28533224		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31283009		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24619076, 29743591		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28533224		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24619076, 29743591, 31283009		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31283009		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31731384		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24619076, 29743591		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24619076	Inhibit	★☆☆☆☆ Found in Text Mining only