Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	81849
Gene name	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5
Gene symbol	ST6GALNAC5
Synonyms (NCBI Gene)	SIAT7-ESIAT7EST6GalNAcV
Chromosome	1
Chromosome location	1p31.1
Summary	The protein encoded by this gene is a Golgi type II transmembrane glycosyltransferase. The encoded protein catalyzes the transfer of sialic acid to cell surface proteins to modulate cell-cell interactions. Several transcript variants encoding different is

Show/Hide all (25)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019483	hsa-miR-148b-3p	Microarray	17612493
MIRT725137	hsa-miR-377-3p	HITS-CLIP	19536157
MIRT725136	hsa-miR-3688-3p	HITS-CLIP	19536157
MIRT725135	hsa-miR-5093	HITS-CLIP	19536157
MIRT725137	hsa-miR-377-3p	HITS-CLIP	19536157
MIRT725136	hsa-miR-3688-3p	HITS-CLIP	19536157
MIRT725135	hsa-miR-5093	HITS-CLIP	19536157
MIRT1393771	hsa-miR-1276	CLIP-seq
MIRT1393772	hsa-miR-219-2-3p	CLIP-seq
MIRT1393773	hsa-miR-2278	CLIP-seq
MIRT1393774	hsa-miR-2964a-3p	CLIP-seq
MIRT1393775	hsa-miR-3130-3p	CLIP-seq
MIRT1393776	hsa-miR-4328	CLIP-seq
MIRT1393777	hsa-miR-4680-3p	CLIP-seq
MIRT1393778	hsa-miR-4793-3p	CLIP-seq
MIRT1393779	hsa-miR-520d-5p	CLIP-seq
MIRT1393780	hsa-miR-524-5p	CLIP-seq
MIRT1393781	hsa-miR-544	CLIP-seq
MIRT2118218	hsa-miR-576-3p	CLIP-seq
MIRT2340200	hsa-miR-3140-3p	CLIP-seq
MIRT2340201	hsa-miR-377	CLIP-seq
MIRT2340202	hsa-miR-4789-3p	CLIP-seq
MIRT1393779	hsa-miR-520d-5p	CLIP-seq
MIRT1393780	hsa-miR-524-5p	CLIP-seq
MIRT1393781	hsa-miR-544	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0001574	Process	Ganglioside biosynthetic process	IBA
GO:0001665	Function	Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	IBA
GO:0001665	Function	Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	ISS
GO:0001665	Function	Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006688	Process	Glycosphingolipid biosynthetic process	ISS
GO:0006688	Process	Glycosphingolipid biosynthetic process	TAS
GO:0008373	Function	Sialyltransferase activity	IEA
GO:0008373	Function	Sialyltransferase activity	ISS	12668675
GO:0009311	Process	Oligosaccharide metabolic process	IBA
GO:0009312	Process	Oligosaccharide biosynthetic process	ISS	12668675
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA

MIM	HGNC	e!Ensembl
610134	19342	ENSG00000117069

Q9BVH7

Protein name

Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (EC 2.4.99.-) (GD1 alpha synthase) (GalNAc alpha-2,6-sialyltransferase V) (ST6GalNAc V) (ST6GalNAcV) (Sialyltransferase 7E) (SIAT7-E)

Protein function

Predominantly catalyzes the biosynthesis of ganglioside GD1alpha from GM1b in the brain, by transferring the sialyl group (N-acetyl-alpha-neuraminyl or NeuAc) from CMP-NeuAc to the GalNAc residue on the NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc sequen

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00777	Glyco_transf_29	79 → 317	Glycosyltransferase family 29 (sialyltransferase)	Family

Sequence

MKTLMRHGLAVCLALTTMCTSLLLVYSSLGGQKERPPQQQQQQQQQQQQASATGSSQPAA
ESSTQQRPGVPAGPRPLDGYLGVADHKPLKMHCRDCALVTSSGHLLHSRQGSQIDQTECV
IRMNDAPTRGYGRDVGNRTSLRVIAHSSIQRILRNRHDLLNVSQGTVFIFWGPSSYMRRD
GKGQVYNNLHLLSQVLPRLKAFMITRHKMLQFDELFKQETGKDRKISNTWLSTGWFTMTI
ALELCDRINVYGMVPPDFCRDPNHPSVPYHYYEPFGPDECTMYLSHERGRKGSHHRFITE
KRVFKNWARTFNIHFFQPDWKPESLAINHPENKPVF

Sequence length

336

Interactions

View interactions

	KEGG		Reactome
	Glycosphingolipid biosynthesis - ganglio series Metabolic pathways		Sialic acid metabolism

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)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ARTHRITIS, RHEUMATOID	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	35853630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	26689941	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25913930, 27529215, 29532526		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30101434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	30101434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30101434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	24399302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	24399302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	24399302	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	24399302	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	24399302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	17986135	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	20616019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	27102283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25913930, 27102283, 27529215, 29532526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19421193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30101434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	34943806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20616019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	36799242	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	17379860, 17568789		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ST6GALNAC5 (ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5)