B4GALT7 (beta-1,4-galactosyltransferase 7)

Gene

• Entrez ID: 11285
• Gene name: Beta-1,4-galactosyltransferase 7
• Gene symbol: B4GALT7
• Synonyms: EDSP1, EDSSLA, EDSSPD1, XGALT1, XGPT, XGPT1
• Chromosome: 5
• Chromosome location: 5q35.3
• Summary: This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937869	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121917817	C>A	Pathogenic	Coding sequence variant, missense variant
rs121917818	T>C	Pathogenic	Coding sequence variant, missense variant
rs142476892	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant
rs187063864	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs200503833	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs375845310	T>C	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs753594601	G>A	Pathogenic	Missense variant, coding sequence variant
rs879255634	CCC>-,CC,CCCC	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, inframe deletion
rs1064796683	T>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT036015	hsa-miR-1301-3p	CLASH	23622248
MIRT448197	hsa-miR-7160-5p	PAR-CLIP	22100165
MIRT448198	hsa-miR-4722-5p	PAR-CLIP	22100165
MIRT448198	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT448199	hsa-miR-1827	PAR-CLIP	22100165
MIRT448199	hsa-miR-1827	HITS-CLIP	23313552
MIRT448199	hsa-miR-1827	PAR-CLIP	27292025
MIRT448200	hsa-miR-4635	PAR-CLIP	22100165
MIRT448200	hsa-miR-4635	HITS-CLIP	23824327
MIRT448201	hsa-miR-4649-3p	PAR-CLIP	22100165
MIRT448202	hsa-miR-4768-3p	PAR-CLIP	22100165
MIRT448202	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT448203	hsa-miR-940	PAR-CLIP	22100165
MIRT448203	hsa-miR-940	HITS-CLIP	23824327
MIRT448204	hsa-miR-6808-5p	PAR-CLIP	22100165
MIRT448204	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT448205	hsa-miR-6893-5p	PAR-CLIP	22100165
MIRT448205	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT462840	hsa-miR-4533	PAR-CLIP	23592263
MIRT462841	hsa-miR-3978	PAR-CLIP	23592263
MIRT462842	hsa-miR-3665	PAR-CLIP	23592263
MIRT462843	hsa-miR-657	PAR-CLIP	23592263
MIRT462844	hsa-miR-361-3p	PAR-CLIP	23592263
MIRT462845	hsa-miR-1825	PAR-CLIP	23592263
MIRT462846	hsa-miR-152-3p	PAR-CLIP	23592263
MIRT462847	hsa-miR-148b-3p	PAR-CLIP	23592263
MIRT462848	hsa-miR-148a-3p	PAR-CLIP	23592263
MIRT462849	hsa-miR-3914	PAR-CLIP	23592263
MIRT632180	hsa-miR-7977	HITS-CLIP	23824327
MIRT682055	hsa-miR-106a-3p	HITS-CLIP	23706177
MIRT682055	hsa-miR-106a-3p	HITS-CLIP	23313552
MIRT682055	hsa-miR-106a-3p	PAR-CLIP	27292025
MIRT682056	hsa-miR-4684-3p	HITS-CLIP	23706177
MIRT682056	hsa-miR-4684-3p	HITS-CLIP	23313552
MIRT682056	hsa-miR-4684-3p	PAR-CLIP	27292025
MIRT682057	hsa-miR-650	HITS-CLIP	23706177
MIRT682057	hsa-miR-650	HITS-CLIP	23313552
MIRT682057	hsa-miR-650	PAR-CLIP	27292025
MIRT682058	hsa-miR-3612	HITS-CLIP	23706177
MIRT682058	hsa-miR-3612	HITS-CLIP	23313552
MIRT682058	hsa-miR-3612	PAR-CLIP	27292025
MIRT682059	hsa-miR-2467-3p	HITS-CLIP	23706177
MIRT682059	hsa-miR-2467-3p	HITS-CLIP	23313552
MIRT682059	hsa-miR-2467-3p	PAR-CLIP	27292025
MIRT682060	hsa-miR-4537	HITS-CLIP	23706177
MIRT682060	hsa-miR-4537	PAR-CLIP	27292025
MIRT682061	hsa-miR-1247-3p	HITS-CLIP	23706177
MIRT682061	hsa-miR-1247-3p	HITS-CLIP	23313552
MIRT682061	hsa-miR-1247-3p	PAR-CLIP	27292025
MIRT682062	hsa-miR-4257	HITS-CLIP	23706177
MIRT682062	hsa-miR-4257	HITS-CLIP	23313552
MIRT682062	hsa-miR-4257	PAR-CLIP	27292025
MIRT686126	hsa-miR-6818-3p	HITS-CLIP	23313552
MIRT686127	hsa-miR-3620-5p	HITS-CLIP	23313552
MIRT686128	hsa-miR-1587	HITS-CLIP	23313552
MIRT686129	hsa-miR-4674	HITS-CLIP	23313552
MIRT686130	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT686131	hsa-miR-3147	HITS-CLIP	23313552
MIRT686132	hsa-miR-593-3p	HITS-CLIP	23313552
MIRT686133	hsa-miR-6895-3p	HITS-CLIP	23313552
MIRT686134	hsa-miR-5699-3p	HITS-CLIP	23313552
MIRT686135	hsa-miR-4421	HITS-CLIP	23313552
MIRT686136	hsa-miR-339-5p	HITS-CLIP	23313552
MIRT686137	hsa-miR-4259	HITS-CLIP	23313552
MIRT686138	hsa-miR-382-5p	HITS-CLIP	23313552
MIRT686139	hsa-miR-495-5p	HITS-CLIP	23313552
MIRT686140	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT697135	hsa-miR-1304-5p	HITS-CLIP	23313552
MIRT697136	hsa-miR-6765-5p	HITS-CLIP	23313552
MIRT697137	hsa-miR-298	HITS-CLIP	23313552
MIRT697138	hsa-miR-6086	HITS-CLIP	23313552
MIRT697138	hsa-miR-6086	PAR-CLIP	27292025
MIRT697139	hsa-miR-377-5p	HITS-CLIP	23313552
MIRT697139	hsa-miR-377-5p	PAR-CLIP	27292025
MIRT697140	hsa-miR-6511a-5p	HITS-CLIP	23313552
MIRT697140	hsa-miR-6511a-5p	PAR-CLIP	27292025
MIRT697141	hsa-miR-1910-3p	HITS-CLIP	23313552
MIRT697141	hsa-miR-1910-3p	PAR-CLIP	27292025
MIRT764160	hsa-miR-25-3p	PAR-CLIP	27292025
MIRT765574	hsa-miR-32-5p	PAR-CLIP	27292025
MIRT766179	hsa-miR-363-3p	PAR-CLIP	27292025
MIRT766618	hsa-miR-367-3p	PAR-CLIP	27292025
MIRT772966	hsa-miR-500a-3p	PAR-CLIP	27292025
MIRT773481	hsa-miR-5186	PAR-CLIP	27292025
MIRT781939	hsa-miR-767-5p	PAR-CLIP	27292025
MIRT782671	hsa-miR-92a-3p	PAR-CLIP	27292025
MIRT782710	hsa-miR-92b-3p	PAR-CLIP	27292025

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0003831	Function	Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IDA	24052259
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005794	Component	Golgi apparatus	IBA	21873635
GO:0005794	Component	Golgi apparatus	IDA	10506123
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IDA	10438455
GO:0006029	Process	Proteoglycan metabolic process	IMP	16583246
GO:0006464	Process	Cellular protein modification process	TAS	10473568
GO:0006487	Process	Protein N-linked glycosylation	IDA	24052259
GO:0008378	Function	Galactosyltransferase activity	IBA	21873635
GO:0008378	Function	Galactosyltransferase activity	IDA	10506123
GO:0008378	Function	Galactosyltransferase activity	IMP	16583246
GO:0016021	Component	Integral component of membrane	IDA	10438455
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0030145	Function	Manganese ion binding	IDA	24052259
GO:0030166	Process	Proteoglycan biosynthetic process	IBA	21873635
GO:0030203	Process	Glycosaminoglycan metabolic process	TAS
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0046525	Function	Xylosylprotein 4-beta-galactosyltransferase activity	IBA	21873635
GO:0046525	Function	Xylosylprotein 4-beta-galactosyltransferase activity	IDA	10438455
GO:0046525	Function	Xylosylprotein 4-beta-galactosyltransferase activity	TAS
GO:0048147	Process	Negative regulation of fibroblast proliferation	IMP	16583246
GO:0070085	Process	Glycosylation	IBA	21873635
GO:0097435	Process	Supramolecular fiber organization	IMP	16583246

Other IDs

• MIM: 604327
• HGNC: 930
• e!Ensembl: ENSG00000027847

Protein

• UniProt ID: Q9UBV7
• Protein name: Beta-1,4-galactosyltransferase 7 (Beta-1,4-GalTase 7) (Beta4Gal-T7) (b4Gal-T7) (EC 2.4.1.-) (Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I) (UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7) (UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7) (UDP-galactose:beta-xylose beta-1,4-galactosyltransferase) (XGPT) (XGalT-1) (Xylosylprotein 4-beta-galactosyltransferase) (EC 2.4.1.133) (Xylosylprotein beta-1,4-galactosyltransferase)
• Protein function: Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.
• PDB: 4IRP, 4IRQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13733	Glyco_transf_7N	79 → 177	N-terminal region of glycosyl transferase group 7	Domain
  PF02709	Glyco_transf_7C	181 → 259	N-terminal domain of galactosyltransferase	Family

• Sequence:

  MFPSRRKAAQLPWEDGRSGLLSGGLPRKCSVFHLFVACLSLGFFSLLWLQLSCSGDVARA
  VRGQGQETSGPPRACPPEPPPEHWEEDASWGPHRLAVLVPFRERFEELLVFVPHMRRFLS
  RKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEA
  GPFHVASPELHPLYHYKTYVGGILLLSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGL
  QLFRPSGITTGYKTFRHLHDPAWRKRDQKRIAAQKQEQFKVDREGGLNTVKYHVASRTAL
  SVGGAPCTVLNIMLDCDKTATPWCTFS

• Sequence length: 327