Human Gene B4GALNT1 (ENST00000341156.9) from GENCODE V44
Description: Homo sapiens beta-1,4-N-acetyl-galactosaminyltransferase 1 (B4GALNT1), transcript variant 1, mRNA. (from RefSeq NM_001478)
RefSeq Summary (NM_001478): 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, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013].
Gencode Transcript: ENST00000341156.9
Gencode Gene: ENSG00000135454.14
Transcript (Including UTRs)
Position: hg38 chr12:57,623,409-57,633,201 Size: 9,793 Total Exon Count: 11 Strand: -
Coding Region
Position: hg38 chr12:57,626,744-57,632,132 Size: 5,389 Coding Exon Count: 10
Data last updated at UCSC: 2023-08-18 00:09:47
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
ID: B4GN1_HUMAN
DESCRIPTION: RecName: Full=Beta-1,4 N-acetylgalactosaminyltransferase 1; EC=2.4.1.92; AltName: Full=(N-acetylneuraminyl)-galactosylglucosylceramide; AltName: Full=GM2/GD2 synthase; AltName: Full=GalNAc-T;
FUNCTION: Involved in the biosynthesis of gangliosides GM2, GD2 and GA2.CATALYTIC ACTIVITY: UDP-N-acetyl-D-galactosamine + 1-O-(O-(N- acetyl-alpha-neuraminosyl)-(2->3)-O-beta-D-galactopyranosyl- (1->4)-beta-D-glucopyranosyl)-ceramide = UDP + 1-O-(O-2- (acetylamino)-2-deoxy-beta-D-galactopyranosyl-(1->4)-O-(N-acetyl- alpha-neuraminosyl-(2->3))-O-beta-D-galactopyranosyl-(1->4)-beta- D-glucopyranosyl)-ceramide.PATHWAY: Protein modification; protein glycosylation.SUBUNIT: Homodimer; disulfide-linked.SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein.SIMILARITY: Belongs to the glycosyltransferase 2 family.WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Beta-1,4 N-acetylgalactosaminyltransferase 1; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_480";
Primer design for this transcript
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR001173 - Glyco_trans_2
IPR011143 - GM2_synthase
Pfam Domains: PF00535 - Glycosyl transferase family 2
ModBase Predicted Comparative 3D Structure on Q00973
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Descriptions from all associated GenBank mRNAs
KY966298 - Homo sapiens cell line 94T778 B4GALNT1 isoform1/SLC28A3 fusion mRNA, partial sequence.AB209460 - Homo sapiens mRNA for UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)- galactosylglucosylceramide N-acetylgalactosaminyltransferase variant protein.BC015493 - Homo sapiens cDNA clone IMAGE:3903666.LF208926 - JP 2014500723-A/16429: Polycomb-Associated Non-Coding RNAs.MA444503 - JP 2018138019-A/16429: Polycomb-Associated Non-Coding RNAs.M83651 - Human beta-1,4 N-acetylgalactosaminyltransferase mRNA, complete cds.JD062246 - Sequence 43270 from Patent EP1572962.JD444268 - Sequence 425292 from Patent EP1572962.JD087300 - Sequence 68324 from Patent EP1572962.JD216741 - Sequence 197765 from Patent EP1572962.JD084736 - Sequence 65760 from Patent EP1572962.JD045735 - Sequence 26759 from Patent EP1572962.JD511985 - Sequence 493009 from Patent EP1572962.JD409705 - Sequence 390729 from Patent EP1572962.JD364743 - Sequence 345767 from Patent EP1572962.AK127448 - Homo sapiens cDNA FLJ45540 fis, clone BRTHA2033155.JD218483 - Sequence 199507 from Patent EP1572962.JD543618 - Sequence 524642 from Patent EP1572962.JD188539 - Sequence 169563 from Patent EP1572962.AK293432 - Homo sapiens cDNA FLJ55323 complete cds, highly similar to Beta-1,4 N-acetylgalactosaminyltransferase 1 (EC 2.4.1.92).JD269322 - Sequence 250346 from Patent EP1572962.JD385539 - Sequence 366563 from Patent EP1572962.JD566596 - Sequence 547620 from Patent EP1572962.JD390655 - Sequence 371679 from Patent EP1572962.JD227285 - Sequence 208309 from Patent EP1572962.JD500386 - Sequence 481410 from Patent EP1572962.JD417948 - Sequence 398972 from Patent EP1572962.JD443653 - Sequence 424677 from Patent EP1572962.JD519615 - Sequence 500639 from Patent EP1572962.JD417825 - Sequence 398849 from Patent EP1572962.JD531966 - Sequence 512990 from Patent EP1572962.JD260233 - Sequence 241257 from Patent EP1572962.LC273521 - Homo sapiens B4GALNT1 mRNA for beta-1,4-N-acetyl-galactosaminyl transferase 1, complete cds.AK299845 - Homo sapiens cDNA FLJ60142 complete cds, highly similar to Beta-1,4 N-acetylgalactosaminyltransferase 1 (EC 2.4.1.92).LF324138 - JP 2014500723-A/131641: Polycomb-Associated Non-Coding RNAs.MA559715 - JP 2018138019-A/131641: Polycomb-Associated Non-Coding RNAs.HQ860788 - Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 isoform c (B4GALNT1) mRNA, partial cds, alternatively spliced.HQ860786 - Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 isoform a (B4GALNT1) mRNA, partial cds, alternatively spliced.HQ860787 - Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 isoform b (B4GALNT1) mRNA, partial cds, alternatively spliced.BC029828 - Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1, mRNA (cDNA clone MGC:34476 IMAGE:5176204), complete cds.AK289690 - Homo sapiens cDNA FLJ75209 complete cds, highly similar to Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1, mRNA.JF432494 - Synthetic construct Homo sapiens clone IMAGE:100073715 beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1) gene, encodes complete protein.KJ904466 - Synthetic construct Homo sapiens clone ccsbBroadEn_13860 B4GALNT1 gene, encodes complete protein.HQ860789 - Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 isoform d (B4GALNT1) mRNA, partial cds, alternatively spliced.LF212362 - JP 2014500723-A/19865: Polycomb-Associated Non-Coding RNAs.MA447939 - JP 2018138019-A/19865: Polycomb-Associated Non-Coding RNAs.AK302503 - Homo sapiens cDNA FLJ55781 complete cds, highly similar to Beta-1,4 N-acetylgalactosaminyltransferase 1 (EC 2.4.1.92).LF213198 - JP 2014500723-A/20701: Polycomb-Associated Non-Coding RNAs.MA448775 - JP 2018138019-A/20701: Polycomb-Associated Non-Coding RNAs.KY966277 - Homo sapiens cell line 93T449 B4GALNT1/SLC28A3 isoform1 fusion mRNA, partial sequence.JD383465 - Sequence 364489 from Patent EP1572962.JD387428 - Sequence 368452 from Patent EP1572962.JD386133 - Sequence 367157 from Patent EP1572962.JD114775 - Sequence 95799 from Patent EP1572962.JD473089 - Sequence 454113 from Patent EP1572962.JD179137 - Sequence 160161 from Patent EP1572962.JD307527 - Sequence 288551 from Patent EP1572962.JD124672 - Sequence 105696 from Patent EP1572962.JD191335 - Sequence 172359 from Patent EP1572962.JD108520 - Sequence 89544 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00604 - Glycosphingolipid biosynthesis - ganglio serieshsa01100 - Metabolic pathways
BioCyc Knowledge Library PWY-7835 - superpathway of glycosphingolipids biosynthesis
PWY-7836 - ganglio-series glycosphingolipids biosynthesis
Reactome (by CSHL, EBI, and GO) Protein Q00973 (Reactome details) participates in the following event(s):R-HSA-8856223 B4GALNT1 dimer transfers GalNAc from UDP-GalNAc to GM3 and GD3 gangliosides
R-HSA-1660662 Glycosphingolipid metabolism
R-HSA-428157 Sphingolipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism
Other Names for This Gene
Alternate Gene Symbols: B4GN1_HUMAN, ENST00000341156.1, ENST00000341156.2, ENST00000341156.3, ENST00000341156.4, ENST00000341156.5, ENST00000341156.6, ENST00000341156.7, ENST00000341156.8, GALGT, NM_001478, Q00973, SIAT2, uc001spg.1, uc001spg.2, uc001spg.3, uc001spg.4UCSC ID: ENST00000341156.9RefSeq Accession: NM_001478
Protein: Q00973
(aka B4GN1_HUMAN)
CCDS: CCDS8950.1
GeneReviews for This Gene
GeneReviews article(s) related to gene B4GALNT1:hsp (Hereditary Spastic Paraplegia Overview)
Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.