Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hereditary spastic paraplegia 26 | | ISO | B4GALNT1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hereditary spastic paraplegia 26 | | ISO | B4GALNT1 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
2. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
3. | beta 1-4N-acetylgalactosaminyltransferase can synthesize both asialoglycosphingolipid GM2 and glycosphingolipid GM2 in vitro and in vivo: isolation and characterization of a beta 1-4N-acetylgalactosaminyltransferase cDNA clone from rat ascites hepatoma cell line AH7974F. | Hidari JK, etal., Biochem J 1994 Nov 1;303 ( Pt 3):957-65. |
4. | The c-series gangliosides GT3, GT2 and GP1c are formed in rat liver Golgi by the same set of glycosyltransferases that catalyse the biosynthesis of asialo-, a- and b-series gangliosides. | Iber H, etal., Glycobiology. 1992 Apr;2(2):137-42. doi: 10.1093/glycob/2.2.137. |
5. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
6. | Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides. | Nagata Y, etal., J Biol Chem 1992 Jun 15;267(17):12082-9. |
7. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
8. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
9. | Online Mendelian Inheritance in Man, OMIM (TM). | Online Mendelian Inheritance in Man, OMIM (TM). |
10. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
11. | Both GA2, GM2, and GD2 synthases and GM1b, GD1a, and GT1b synthases are single enzymes in Golgi vesicles from rat liver. | Pohlentz G, etal., Proc Natl Acad Sci U S A. 1988 Oct;85(19):7044-8. doi: 10.1073/pnas.85.19.7044. |
12. | GOA pipeline | RGD automated data pipeline |
13. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
14. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
15. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
PMID:7487055 | PMID:7890749 | PMID:8855236 | PMID:10021458 | PMID:15489334 | PMID:18308723 |
B4galnt1 (Rattus norvegicus - Norway rat) |
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B4GALNT1 (Homo sapiens - human) |
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B4galnt1 (Mus musculus - house mouse) |
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B4galnt1 (Chinchilla lanigera - long-tailed chinchilla) |
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B4GALNT1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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B4GALNT1 (Canis lupus familiaris - dog) |
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B4galnt1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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B4GALNT1 (Sus scrofa - pig) |
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B4GALNT1 (Chlorocebus sabaeus - green monkey) |
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B4galnt1 (Heterocephalus glaber - naked mole-rat) |
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Variants in B4galnt1
17 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
B4galnt1 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 2 | 2 | 44 | 36 | 19 | 36 | 64 | 20 | 8 | 1 | |||
Low | 1 | 13 | 13 | 5 | 5 | 8 | 11 | 10 | 15 | 33 | 10 | 8 | |
Below cutoff | 28 |
RefSeq Transcripts | NM_022860 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006241497 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017595100 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039079858 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063264214 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063264215 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063264216 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001838716 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC114111 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
BC081799 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH473950 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D17809 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ232922 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000046099 ⟹ ENSRNOP00000048586 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000097144 ⟹ ENSRNOP00000078917 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000104089 ⟹ ENSRNOP00000088949 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_022860 ⟹ NP_074051 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006241497 ⟹ XP_006241559 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039079858 ⟹ XP_038935786 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063264214 ⟹ XP_063120284 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063264215 ⟹ XP_063120285 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063264216 ⟹ XP_063120286 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_001838716 | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_074051 | (Get FASTA) | NCBI Sequence Viewer |
XP_006241559 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038935786 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063120284 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063120285 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063120286 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH81799 | (Get FASTA) | NCBI Sequence Viewer |
BAA04632 | (Get FASTA) | NCBI Sequence Viewer | |
EDM16492 | (Get FASTA) | NCBI Sequence Viewer | |
EDM16493 | (Get FASTA) | NCBI Sequence Viewer | |
EDM16494 | (Get FASTA) | NCBI Sequence Viewer | |
EDM16495 | (Get FASTA) | NCBI Sequence Viewer | |
EDM16496 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000048586 | ||
ENSRNOP00000048586.3 | |||
ENSRNOP00000078917 | |||
ENSRNOP00000078917.1 | |||
ENSRNOP00000088949.1 | |||
ENSRNOP00055038095 | |||
ENSRNOP00060010781 | |||
ENSRNOP00065021297 | |||
GenBank Protein | Q10468 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_074051 ⟸ NM_022860 |
- UniProtKB: | Q10468 (UniProtKB/Swiss-Prot), A6HQS8 (UniProtKB/TrEMBL), A0A8L2QP76 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006241559 ⟸ XM_006241497 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8I5ZLQ7 (UniProtKB/TrEMBL), A0A8L2QP76 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000048586 ⟸ ENSRNOT00000046099 |
RefSeq Acc Id: | XP_038935786 ⟸ XM_039079858 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | ENSRNOP00000078917 ⟸ ENSRNOT00000097144 |
RefSeq Acc Id: | ENSRNOP00000088949 ⟸ ENSRNOT00000104089 |
RefSeq Acc Id: | XP_063120284 ⟸ XM_063264214 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_063120285 ⟸ XM_063264215 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_063120286 ⟸ XM_063264216 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q10468-F1-model_v2 | AlphaFold | Q10468 | 1-533 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:620490 | AgrOrtholog |
BioCyc Gene | G2FUF-33762 | BioCyc |
BioCyc Pathway | PWY-7836 [ganglio-series glycosphingolipids biosynthesis] | BioCyc |
BioCyc Pathway Image | PWY-7836 | BioCyc |
Ensembl Genes | ENSRNOG00000004839 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
ENSRNOG00055026868 | UniProtKB/Swiss-Prot | |
ENSRNOG00060008437 | UniProtKB/Swiss-Prot | |
ENSRNOG00065016270 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENSRNOT00000046099 | ENTREZGENE |
ENSRNOT00000046099.4 | UniProtKB/TrEMBL | |
ENSRNOT00000097144.1 | UniProtKB/TrEMBL | |
ENSRNOT00000104089.1 | UniProtKB/TrEMBL | |
ENSRNOT00055046445 | UniProtKB/Swiss-Prot | |
ENSRNOT00060014082 | UniProtKB/Swiss-Prot | |
ENSRNOT00065027095 | UniProtKB/Swiss-Prot | |
IMAGE_CLONE | IMAGE:7133837 | IMAGE-MGC_LOAD |
InterPro | Glyco_trans_2-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GM2_synthase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Nucleotide-diphossugar_trans | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:64828 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MGC_CLONE | MGC:93424 | IMAGE-MGC_LOAD |
NCBI Gene | 64828 | ENTREZGENE |
PANTHER | BETA-1,4 N-ACETYLGALACTOSAMINYLTRANSFERASE 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GLYCO_TRANS_2-LIKE DOMAIN-CONTAINING PROTEIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Glycos_transf_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | B4galnt1 | PhenoGen |
PIRSF | GM2_GD2_synthase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | PROKAR_LIPOPROTEIN | UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000004839 | RatGTEx |
ENSRNOG00055026868 | RatGTEx | |
ENSRNOG00060008437 | RatGTEx | |
ENSRNOG00065016270 | RatGTEx | |
Superfamily-SCOP | SSF53448 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A8I5ZLQ7 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8I6A8U0_RAT | UniProtKB/TrEMBL | |
A0A8L2QP76 | ENTREZGENE, UniProtKB/TrEMBL | |
A6HQS6_RAT | UniProtKB/TrEMBL | |
A6HQS7_RAT | UniProtKB/TrEMBL | |
A6HQS8 | ENTREZGENE, UniProtKB/TrEMBL | |
A6HQS9_RAT | UniProtKB/TrEMBL | |
A6HQT0_RAT | UniProtKB/TrEMBL | |
B4GN1_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2006-03-30 | B4galnt1 | beta-1,4-N-acetyl-galactosaminyl transferase 1 | Galgt1 | UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide-beta-1, 4-N-acetylgalactosaminyltransferase | Symbol and Name updated | 1299863 | APPROVED |
2005-01-20 | Galgt1 | UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide-beta-1, 4-N-acetylgalactosaminyltransferase | beta-4N-acetylgalactosaminyltransferase | Name updated | 1299863 | APPROVED | |
2002-08-07 | Galgt1 | beta-4N-acetylgalactosaminyltransferase | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
Note Type | Note | Reference |
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gene_expression | strongly expressed in rat brain, testis, and spleen | |
gene_function | catalyses the formation of asialo-GM2, GM2, and GD2 | 631865 |
gene_homology | 88% similar to the human GALGT gene | 631865 |
gene_protein | typical type II membrane protein |