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	9331
Gene name	Beta-1,4-galactosyltransferase 6
Gene symbol	B4GALT6
Synonyms (NCBI Gene)	B4Gal-T6beta4Gal-T6
Chromosome	18
Chromosome location	18q12.1
Summary	This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes in human. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 link

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018554	hsa-miR-335-5p	Microarray	18185580
MIRT024717	hsa-miR-215-5p	Microarray	19074876
MIRT026806	hsa-miR-192-5p	Microarray	19074876
MIRT708193	hsa-miR-8485	HITS-CLIP	21572407
MIRT708192	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT708191	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT708190	hsa-miR-603	HITS-CLIP	21572407
MIRT198556	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT198557	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT198553	hsa-miR-3941	HITS-CLIP	21572407
MIRT708189	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT079902	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT660381	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT660380	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT660379	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT660378	hsa-miR-1248	HITS-CLIP	23824327
MIRT660377	hsa-miR-9-3p	HITS-CLIP	23824327
MIRT660376	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT441130	hsa-miR-205-5p	HITS-CLIP	22473208
MIRT441130	hsa-miR-205-5p	HITS-CLIP	22473208
MIRT708193	hsa-miR-8485	HITS-CLIP	21572407
MIRT708192	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT708191	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT708190	hsa-miR-603	HITS-CLIP	21572407
MIRT198556	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT198557	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT198553	hsa-miR-3941	HITS-CLIP	21572407
MIRT708189	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT079902	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT660381	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT660380	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT660379	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT660378	hsa-miR-1248	HITS-CLIP	23824327
MIRT660377	hsa-miR-9-3p	HITS-CLIP	23824327
MIRT660376	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT813992	hsa-miR-1257	CLIP-seq
MIRT813993	hsa-miR-125a-5p	CLIP-seq
MIRT813994	hsa-miR-125b	CLIP-seq
MIRT813995	hsa-miR-129-5p	CLIP-seq
MIRT813996	hsa-miR-1304	CLIP-seq
MIRT813997	hsa-miR-1827	CLIP-seq
MIRT813998	hsa-miR-3177-5p	CLIP-seq
MIRT813999	hsa-miR-329	CLIP-seq
MIRT814000	hsa-miR-338-3p	CLIP-seq
MIRT814001	hsa-miR-342-3p	CLIP-seq
MIRT814002	hsa-miR-374c	CLIP-seq
MIRT814003	hsa-miR-4257	CLIP-seq
MIRT814004	hsa-miR-4319	CLIP-seq
MIRT814005	hsa-miR-4530	CLIP-seq
MIRT814006	hsa-miR-4639-3p	CLIP-seq
MIRT814007	hsa-miR-4666-3p	CLIP-seq
MIRT814008	hsa-miR-4668-3p	CLIP-seq
MIRT814009	hsa-miR-4699-5p	CLIP-seq
MIRT814010	hsa-miR-4732-3p	CLIP-seq
MIRT814011	hsa-miR-494	CLIP-seq
MIRT814012	hsa-miR-545	CLIP-seq
MIRT814013	hsa-miR-553	CLIP-seq
MIRT814014	hsa-miR-577	CLIP-seq
MIRT814015	hsa-miR-605	CLIP-seq
MIRT814016	hsa-miR-642b	CLIP-seq
MIRT814017	hsa-miR-655	CLIP-seq
MIRT814018	hsa-miR-668	CLIP-seq
MIRT814019	hsa-miR-670	CLIP-seq
MIRT1940631	hsa-miR-1276	CLIP-seq
MIRT1940632	hsa-miR-139-5p	CLIP-seq
MIRT1940633	hsa-miR-183	CLIP-seq
MIRT1940634	hsa-miR-3117-5p	CLIP-seq
MIRT1940635	hsa-miR-3143	CLIP-seq
MIRT813999	hsa-miR-329	CLIP-seq
MIRT1940636	hsa-miR-3617	CLIP-seq
MIRT1940637	hsa-miR-3662	CLIP-seq
MIRT1940638	hsa-miR-3688-3p	CLIP-seq
MIRT1940639	hsa-miR-3978	CLIP-seq
MIRT814003	hsa-miR-4257	CLIP-seq
MIRT1940640	hsa-miR-4311	CLIP-seq
MIRT1940641	hsa-miR-4476	CLIP-seq
MIRT1940642	hsa-miR-4642	CLIP-seq
MIRT1940643	hsa-miR-4659a-3p	CLIP-seq
MIRT1940644	hsa-miR-4659b-3p	CLIP-seq
MIRT1940645	hsa-miR-4662a-3p	CLIP-seq
MIRT1940646	hsa-miR-4684-5p	CLIP-seq
MIRT1940647	hsa-miR-4711-5p	CLIP-seq
MIRT1940648	hsa-miR-4775	CLIP-seq
MIRT1940649	hsa-miR-4802-3p	CLIP-seq
MIRT1940650	hsa-miR-4803	CLIP-seq
MIRT1940651	hsa-miR-499-3p	CLIP-seq
MIRT1940652	hsa-miR-499a-3p	CLIP-seq
MIRT1940653	hsa-miR-501-5p	CLIP-seq
MIRT814014	hsa-miR-577	CLIP-seq
MIRT1940654	hsa-miR-578	CLIP-seq
MIRT1940655	hsa-miR-583	CLIP-seq
MIRT1940656	hsa-miR-590-3p	CLIP-seq
MIRT814015	hsa-miR-605	CLIP-seq
MIRT1940657	hsa-miR-641	CLIP-seq
MIRT814016	hsa-miR-642b	CLIP-seq
MIRT1940658	hsa-miR-671-5p	CLIP-seq
MIRT1940659	hsa-miR-760	CLIP-seq
MIRT1940660	hsa-miR-942	CLIP-seq
MIRT2179630	hsa-miR-1178	CLIP-seq
MIRT2179631	hsa-miR-137	CLIP-seq
MIRT2179632	hsa-miR-2117	CLIP-seq
MIRT2179633	hsa-miR-300	CLIP-seq
MIRT2179634	hsa-miR-3074-3p	CLIP-seq
MIRT1940634	hsa-miR-3117-5p	CLIP-seq
MIRT2179635	hsa-miR-3168	CLIP-seq
MIRT2179636	hsa-miR-381	CLIP-seq
MIRT2179637	hsa-miR-4289	CLIP-seq
MIRT1940645	hsa-miR-4662a-3p	CLIP-seq
MIRT2179638	hsa-miR-4768-5p	CLIP-seq
MIRT2179639	hsa-miR-518a-5p	CLIP-seq
MIRT2179640	hsa-miR-527	CLIP-seq
MIRT2179641	hsa-miR-587	CLIP-seq
MIRT1940656	hsa-miR-590-3p	CLIP-seq
MIRT814016	hsa-miR-642b	CLIP-seq
MIRT1940634	hsa-miR-3117-5p	CLIP-seq
MIRT1940645	hsa-miR-4662a-3p	CLIP-seq
MIRT2483010	hsa-miR-200b	CLIP-seq
MIRT2483011	hsa-miR-200c	CLIP-seq
MIRT2483012	hsa-miR-3646	CLIP-seq
MIRT2483013	hsa-miR-369-3p	CLIP-seq
MIRT2483014	hsa-miR-429	CLIP-seq
MIRT2483010	hsa-miR-200b	CLIP-seq
MIRT2483011	hsa-miR-200c	CLIP-seq
MIRT2483012	hsa-miR-3646	CLIP-seq
MIRT2483013	hsa-miR-369-3p	CLIP-seq
MIRT2483014	hsa-miR-429	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0001572	Process	Lactosylceramide biosynthetic process	IDA	10320813
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0006688	Process	Glycosphingolipid biosynthetic process	IBA
GO:0006688	Process	Glycosphingolipid biosynthetic process	IEA
GO:0008378	Function	Galactosyltransferase activity	IDA	10320813
GO:0008378	Function	Galactosyltransferase activity	TAS	9597550
GO:0008489	Function	UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	IBA
GO:0008489	Function	UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	IEA
GO:0008489	Function	UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	IMP	24498430
GO:0008489	Function	UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	ISS
GO:0010706	Process	Ganglioside biosynthetic process via lactosylceramide	IEA
GO:0010706	Process	Ganglioside biosynthetic process via lactosylceramide	ISS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0021955	Process	Central nervous system neuron axonogenesis	IEA
GO:0021955	Process	Central nervous system neuron axonogenesis	ISS
GO:0022010	Process	Central nervous system myelination	IEA
GO:0022010	Process	Central nervous system myelination	ISS
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0042551	Process	Neuron maturation	IEA
GO:0042551	Process	Neuron maturation	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0070085	Process	Glycosylation	IBA
GO:1901137	Process	Carbohydrate derivative biosynthetic process	IEA

MIM	HGNC	e!Ensembl
604017	929	ENSG00000118276

Q9UBX8

Protein name

Beta-1,4-galactosyltransferase 6 (Beta-1,4-GalTase 6) (Beta4Gal-T6) (b4Gal-T6) (EC 2.4.1.-) (Glucosylceramide beta-1,4-galactosyltransferase) (EC 2.4.1.274) (Lactosylceramide synthase) (LacCer synthase) (UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase

Protein function

Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer) (PubMed:1551920, PubMed:24498430, PubMed:3099851). LacCer is the starting point in the biosynthesis of all ganglio

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13733	Glyco_transf_7N	108 → 243	N-terminal region of glycosyl transferase group 7	Domain
PF02709	Glyco_transf_7C	247 → 325	N-terminal domain of galactosyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: High expression in brain and adrenal gland, lower in liver, lung, colon and peripheral white blood cells.

Sequence

MSVLRRMMRVSNRSLLAFIFFFSLSSSCLYFIYVAPGIANTYLFMVQARGIMLRENVKTI
GHMIRLYTNKNSTLNGTDYPEGNNSSDYLVQTTTYLPENFTYSPYLPCPEKLPYMRGFLN
VNVSEVSFDEIHQLFSKDLDIEPGGHWRPKDCKPRWKVAVLIPFRNRHEHLPIFFLHLIP
MLQKQRLEFAFYVIEQTGTQPFNRAMLFNVGFKEAMKDSVWDCVIFHDVDHLPENDRNYY
GCGEMPRHFAAKLDKYMYILPYKEFFGGVSGLTVEQFRKINGFPNAFWGWGGEDDDLWNR
VHYAGYNVTRPEGDLGKYKSIPHHHRGEVQFLGRYKLLRYSKERQYIDGLNNLIYRPKIL
VDRLYTNISVNLMPELAPIEDY

Sequence length

382

Interactions

View interactions

	KEGG		Reactome
	Sphingolipid metabolism Metabolic pathways		Keratan sulfate biosynthesis O-linked glycosylation of mucins N-Glycan antennae elongation

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 (1)

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.
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Cataract Age Related Nuclear	Associate	34954695	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Associate	24668659	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pectus Carinatum	Associate	24668659	★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractive Errors	Associate	24668659	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Inhibit	18683247	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Associate	24668659	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomatognathic Diseases	Associate	24668659	★★★★★ ★☆☆☆☆ Found in Text Mining only

B4GALT6 (beta-1,4-galactosyltransferase 6)