Gene Summary for NIH-1790 |
Functional Category: |
enzyme-glycosyltransferase |
Cell Location: |
integral membrane |
OST #: |
126901 |
Mouse Nucleotide Accession #: |
NM_019737 |
Human Nucleotide Accession #: |
NM_004775 |
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Summary: |
The targeted mouse gene is B4galt6 (UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6), the ortholog of human B4GALT6. Aliases include beta-1, 4-galactosyltransferase VI; UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase; B4Gal-T6; LacCer synthase; 4GalT-VIa; 4GalT-VIb; beta4GalT-VI, and beta4Gal-T6. |
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Phenotypic Summary for NIH-1790 |
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No Notable Phenotype |
Mouse Gene Sequence Information |
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Nucleotide Reference: |
NM_019737 ACCESSION:NM_019737 NID:9790036 Mus musculus Mus musculus UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6 (B4galt6), mRNA. mouse_refseq |
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Protein Reference: |
Q9WVK5 ACCESSION:Q9WVK5 NID: Mus musculus (Mouse). BETA-1,4-GALACTOSYLTRANSFERASE 6 (EC 2.4.1.-) (BETA-1,4-GALTASE 6) (BETA4GAL-T6) (B4GAL-T6) (UDP-GALACTOSE:BETA-N-ACETYLGLUCOSAMINE BETA- 1,4-GALACTOSYLTRANSFERASE 6) (UDP-GAL:BETA-GLCNAC BETA-1,4- GALACTOSYLTRANSFERASE 6) [INCLUDES: LACTOSYLCERAMIDE SYNTHASE (EC 2.4.1.-) (LACCER SYNTHASE) (UDP-GAL:GLUCOSYLCERAMIDE BETA-1,4- GALACTOSYLTRANSFERASE)]. MOUSESPTRNRDB |
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Entrez Gene: |
56386 |
Human Gene Sequence Information |
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Nucleotide Reference: |
NM_004775 ACCESSION:NM_004775 NID:13929471 Homo sapiens Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 (B4GALT6), mRNA. hs_refseq |
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Protein Reference: |
Q9UBX8 ACCESSION:Q9UBX8 NID: Homo sapiens (Human). BETA-1,4-GALACTOSYLTRANSFERASE 6 (EC 2.4.1.-) (BETA-1,4-GALTASE 6) (BETA4GAL-T6) (B4GAL-T6) (UDP-GALACTOSE:BETA-N-ACETYLGLUCOSAMINE BETA- 1,4-GALACTOSYLTRANSFERASE 6) (UDP-GAL:BETA-GLCNAC BETA-1,4- GALACTOSYLTRANSFERASE 6) [INCLUDES: LACTOSYLCERAMIDE SYNTHASE (EC 2.4.1.-) (LACCER SYNTHASE) (UDP-GAL:GLUCOSYLCERAMIDE BETA-1,4- GALACTOSYLTRANSFERASE)]. HUMANSPTRNRDB |
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Entrez Gene: |
9331 |
Mutation Information |
Mutation Type: |
Retroviral Insertion (OST) |
Description: |
Retroviral insertion occurred between coding exons 1 and 2 (NCBI accession NM_019737). |
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