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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2583
Gene name	Beta-1,4-N-acetyl-galactosaminyltransferase 1
Gene symbol	B4GALNT1
Synonyms (NCBI Gene)	GALGTGALNACTGalNAc-TSPG26
Chromosome	12
Chromosome location	12q13.3
Summary	GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, result

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs377445018	C>T	Likely-pathogenic	Splice donor variant
rs398122382	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs745744124	C>-,CC	Likely-pathogenic, pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, frameshift variant, non coding transcript variant
rs766591558	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant
rs879255241	G>A	Pathogenic	5 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant, intron variant
rs879255242	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1361370524	G>A,C,T	Pathogenic	5 prime UTR variant, synonymous variant, coding sequence variant, non coding transcript variant, stop gained, intron variant, missense variant
rs1555186937	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant

Show/Hide all (59)

miRTarBase ID	miRNA	Experiments
MIRT813458	hsa-miR-2467-3p	CLIP-seq
MIRT813459	hsa-miR-3678-3p	CLIP-seq
MIRT813460	hsa-miR-4310	CLIP-seq
MIRT1940489	hsa-miR-1236	CLIP-seq
MIRT1940490	hsa-miR-2113	CLIP-seq
MIRT813458	hsa-miR-2467-3p	CLIP-seq
MIRT1940491	hsa-miR-28-5p	CLIP-seq
MIRT1940492	hsa-miR-3139	CLIP-seq
MIRT1940493	hsa-miR-3183	CLIP-seq
MIRT1940494	hsa-miR-3670	CLIP-seq
MIRT813459	hsa-miR-3678-3p	CLIP-seq
MIRT1940495	hsa-miR-3925-3p	CLIP-seq
MIRT1940496	hsa-miR-4279	CLIP-seq
MIRT813460	hsa-miR-4310	CLIP-seq
MIRT1940497	hsa-miR-4420	CLIP-seq
MIRT1940498	hsa-miR-4723-3p	CLIP-seq
MIRT1940499	hsa-miR-515-5p	CLIP-seq
MIRT1940500	hsa-miR-665	CLIP-seq
MIRT1940501	hsa-miR-708	CLIP-seq
MIRT1940502	hsa-miR-766	CLIP-seq
MIRT1940503	hsa-miR-942	CLIP-seq
MIRT2179477	hsa-miR-1207-5p	CLIP-seq
MIRT2179478	hsa-miR-1343	CLIP-seq
MIRT2179479	hsa-miR-1913	CLIP-seq
MIRT2179480	hsa-miR-3074-5p	CLIP-seq
MIRT2179481	hsa-miR-3173-3p	CLIP-seq
MIRT2179482	hsa-miR-3189-5p	CLIP-seq
MIRT2179483	hsa-miR-324-3p	CLIP-seq
MIRT2179484	hsa-miR-4695-5p	CLIP-seq
MIRT2179485	hsa-miR-4722-3p	CLIP-seq
MIRT2179486	hsa-miR-4736	CLIP-seq
MIRT2179487	hsa-miR-4758-3p	CLIP-seq
MIRT2179488	hsa-miR-4763-3p	CLIP-seq
MIRT1940503	hsa-miR-942	CLIP-seq
MIRT2179478	hsa-miR-1343	CLIP-seq
MIRT1940490	hsa-miR-2113	CLIP-seq
MIRT813458	hsa-miR-2467-3p	CLIP-seq
MIRT813459	hsa-miR-3678-3p	CLIP-seq
MIRT2384705	hsa-miR-3978	CLIP-seq
MIRT813460	hsa-miR-4310	CLIP-seq
MIRT1940490	hsa-miR-2113	CLIP-seq
MIRT813458	hsa-miR-2467-3p	CLIP-seq
MIRT813459	hsa-miR-3678-3p	CLIP-seq
MIRT813460	hsa-miR-4310	CLIP-seq
MIRT2179477	hsa-miR-1207-5p	CLIP-seq
MIRT2179478	hsa-miR-1343	CLIP-seq
MIRT1940490	hsa-miR-2113	CLIP-seq
MIRT813458	hsa-miR-2467-3p	CLIP-seq
MIRT813459	hsa-miR-3678-3p	CLIP-seq
MIRT2384705	hsa-miR-3978	CLIP-seq
MIRT813460	hsa-miR-4310	CLIP-seq
MIRT2482935	hsa-miR-4323	CLIP-seq
MIRT2179486	hsa-miR-4736	CLIP-seq
MIRT2179488	hsa-miR-4763-3p	CLIP-seq
MIRT1940490	hsa-miR-2113	CLIP-seq
MIRT813458	hsa-miR-2467-3p	CLIP-seq
MIRT813459	hsa-miR-3678-3p	CLIP-seq
MIRT813460	hsa-miR-4310	CLIP-seq
MIRT2482935	hsa-miR-4323	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	ISS
GO:0000139	Component	Golgi membrane	TAS
GO:0001574	Process	Ganglioside biosynthetic process	IBA
GO:0001574	Process	Ganglioside biosynthetic process	IDA	7487055, 7890749
GO:0001574	Process	Ganglioside biosynthetic process	IEA
GO:0001574	Process	Ganglioside biosynthetic process	IMP	1601877
GO:0003947	Function	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	IDA	7487055, 7890749
GO:0003947	Function	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	IEA
GO:0003947	Function	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	IMP	1601877
GO:0003947	Function	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	TAS	8702839
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0005975	Process	Carbohydrate metabolic process	TAS	1601877
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0006687	Process	Glycosphingolipid metabolic process	IEA
GO:0006687	Process	Glycosphingolipid metabolic process	TAS	1601877
GO:0007033	Process	Vacuole organization	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008376	Function	Acetylgalactosaminyltransferase activity	IBA
GO:0008376	Function	Acetylgalactosaminyltransferase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	1601877
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016758	Function	Hexosyltransferase activity	IEA
GO:0019915	Process	Lipid storage	IEA
GO:0021675	Process	Nerve development	IEA
GO:0060173	Process	Limb development	IEA
GO:0061744	Process	Motor behavior	IEA
GO:1901137	Process	Carbohydrate derivative biosynthetic process	IEA

MIM	HGNC	e!Ensembl
601873	4117	ENSG00000135454

Q00973

Protein name

Beta-1,4 N-acetylgalactosaminyltransferase 1 (EC 2.4.1.92) ((N-acetylneuraminyl)-galactosylglucosylceramide) (GM2/GD2 synthase) (GalNAc-T)

Protein function

Involved in the biosynthesis of gangliosides GM2, GD2, GT2 and GA2 from GM3, GD3, GT3 and GA3, respectively.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00535	Glycos_transf_2	280 → 450	Glycosyl transferase family 2	Family

Sequence

MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRY
AHIPVRIKEQVVGLLAWNNCSCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQ
EFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSILVPGLSLQAASGQEVYQVNL
TASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRF
STEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIR
RFYPTVTVVIADDSDKPERVSGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFV
FTARTRLERLVDVLERTPLDLVGGAVREISGFATTYRQLLSVEPGAPGLGNCLRQRRGFH
HELVGFPGCVVTDGVVNFFLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVV
VDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ

Sequence length

533

Interactions

View interactions

	KEGG		Reactome
	Sphingolipid metabolism Glycosphingolipid biosynthesis - ganglio series Metabolic pathways		Glycosphingolipid metabolism

284

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary spastic paraplegia 26	Pathogenic; Likely pathogenic	rs2540668608, rs2540668999, rs563575730, rs766591558, rs398122382, rs745744124, rs879255241, rs879255242, rs1885117995, rs1884842111, rs759528128	RCV003317810 RCV003333451 RCV003988715 RCV000054419 RCV000054420 RCV000054421 RCV000054422 RCV000054423 RCV002051912 RCV001391544 RCV001391543
Spastic paraparesis	Likely pathogenic; Pathogenic	rs1884842111	RCV005241247
Spastic paraplegia	Pathogenic; Likely pathogenic	rs144887664, rs371013292, rs745744124, rs1410753769, rs1296877590, rs1269140893, rs2540667597, rs1423595663, rs2540658045, rs2540640409, rs774736480, rs377445018, rs1555186937, rs1361370524, rs398122382, rs1340636078, rs1885117995 View all (2 more)	RCV001387496 RCV002568203 RCV002035395 RCV002007570 RCV003067995 RCV003032228 RCV003035388 RCV003588996 RCV003591003 RCV003751977 RCV003752471 RCV005056065 RCV002525233 RCV000809876 RCV005089450 RCV002515735 RCV001056981 RCV001040708

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
B4GALNT1-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	rs370107238, rs144076705, rs761607770, rs61649746, rs147301375, rs144922627, rs2540652971, rs145611777, rs141524511, rs376140415	RCV003953651 RCV003941283 RCV003916730 RCV003937894 RCV003907864 RCV003919946 RCV003934656 RCV004758014 RCV003932658 RCV003908154
Gastric cancer	Benign; Likely benign	rs78105569	RCV005899522
Ovarian serous cystadenocarcinoma	Benign	rs774897	RCV005916670
Sarcoma	Benign	rs774897	RCV005916669
Uterine carcinosarcoma	Benign	rs774897	RCV005916671

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	32310165
Carcinogenesis	Associate	35935585
Carcinoma Renal Cell	Associate	15178323
Cerebral Palsy	Associate	35775650
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	22566642
Dysarthria	Associate	35775650
Echinococcosis	Associate	36631795
Gait Disorders Neurologic	Associate	35775650
Gastrointestinal Neoplasms	Associate	11856818
Hereditary Breast and Ovarian Cancer Syndrome	Associate	23479608
Leukemia Lymphoma Adult T Cell	Associate	8702839
Melanoma	Associate	15226334, 15817820, 16116595, 20371696, 8702839
Muscle Spasticity	Associate	33638609
Neoplasm Metastasis	Associate	39311783
Neoplasms	Associate	11856818, 23479608, 23799843, 29496042, 35935585, 39311783
Neuroblastoma	Associate	11485908, 8702839
Neurodegenerative Diseases	Associate	24103911
Osteosarcoma	Associate	39311783
Reflex Abnormal	Associate	35775650
Retinoblastoma	Associate	36148636
Spastic Paraplegia Hereditary	Associate	23746551, 24103911, 33638609, 35775650
Spinocerebellar Degenerations	Associate	37510308
Tay Sachs Disease AB Variant	Associate	35775650
Uterine Cervical Neoplasms	Associate	31847655

B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1)