Homo sapiens gene UGT8, encoding UDP glycosyltransferase 8.
SUMMARY back to top
RefSeq summary
[UGT8] Galactocerebrosides are abundant sphingolipids of the myelin membrane of the central nervous system and peripheral nervous system and are also present in small amounts in kidney. The key enzymatic step in the biosynthesis of galactocerebrosides consists of the transfer of galactose to ceramide catalyzed by UDP-galactose ceramide galactosyltransferase (CGT, EC The enzyme encoded by the CGT gene is the first involved in complex lipid biosynthesis in the myelinating oligodendrocyte.[supplied by OMIM].

RefSeq annotates 2 representative transcripts (NM included in AceView variants .a and .b), but Homo sapiens cDNA sequences in GenBank, dbEST, Trace and SRA, filtered against clone rearrangements, coaligned on the genome and clustered in a minimal non-redundant way by the manually supervised AceView program, support at least 6 spliced variants.

AceView synopsis, each blue text links to tables and details
Expression: According to AceView, this gene is expressed at high level, 1.8 times the average gene in this release. The sequence of this gene is defined by 200 GenBank accessions from 190 cDNA clones, some from brain (seen 23 times), hippocampus (16), hypothalamus (13), thalamus (11), caudate nucleus (8), amygdala (5), cerebellum (5) and 29 other tissues. We annotate structural defects or features in 14 cDNA clones.
Alternative mRNA variants and regulation: The gene contains 9 distinct introns (8 gt-ag, 1 gc-ag). Transcription produces 7 different mRNAs, 6 alternatively spliced variants and 1 unspliced form. There are 2 probable alternative promotors, 2 non overlapping alternative last exons and 2 validated alternative polyadenylation sites (see the diagram). The mRNAs appear to differ by truncation of the 5' end, presence or absence of 4 cassette exons, overlapping exons with different boundaries.
Efficacy of translation may be reduced by the presence of a shorter translated product (uORF) initiating at an AUG upstream of the main open reading frame (in variant aAug10, bAug10).
Function: There are 14 articles specifically referring to this gene in PubMed. Functionally, the gene has been tested for association to a disease (Glioma), proposed to participate in pathways (Metabolic pathways, Sphingolipid metabolism) and processes (central nervous system development, peripheral nervous system development, metabolic process). Proteins are expected to have molecular functions (2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity, transferase activity, transferring hexosyl groups, UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity) and to localize in various compartments (endoplasmic reticulum membrane, integral to membrane).
Protein coding potential: 5 spliced mRNAs putatively encode good proteins, altogether 4 different isoforms (1 complete, 2 COOH complete, 1 partial), some containing UDP-glucoronosyl and UDP-glucosyl transferase domain [Pfam], some transmembrane domains, a vacuolar domain [Psort2]. The remaining mRNA variant (spliced; partial) appears not to encode a good protein. Finally proteins from this gene may be modulated by acetylation; phosphorylation, as detailed at PhosphoSite.

Please quote: AceView: a comprehensive cDNA-supported gene and transcripts annotation, Genome Biology 2006, 7(Suppl 1):S12.
Map on chromosome 4, links to other databases and other names
Map: This gene UGT8 maps on chromosome 4, at 4q26 according to Entrez Gene. In AceView, it covers 78.64 kb, from 115519559 to 115598202 (NCBI 37, August 2010), on the direct strand.
Links to: manual annotations from KEGG_00600, KEGG_01100, PhosphoSite, the SNP view, gene overviews from Entrez Gene 7368, GeneCards, expression data from ECgene, UniGene, molecular and other annotations from UCSC, or our GOLD analysis.
The previous AceView annotation is here.
Other names: The gene is also known as UGT8, CGT, UGT4 or LOC7368, mawgla. It has been described as 2-hydroxyacylsphingosine 1-beta-galactosyltransferase, cerebroside synthase, ceramide UDP-galactosyltransferase, uridine diphosphate glycosyltransferase 8, UDP-galactose ceramide galactosyltransferase, UDP-galactose-ceramide galactosyltransferase.
EC number: This gene encodes protein number:
Closest AceView homologs in other species ?
The closest mouse gene, according to BlastP, is the AceView gene Ugt8a (e= 10-148).
The closest C.elegans genes, according to BlastP, are the AceView/WormGenes ugt-48 (e=3 10-12), ugt-58 (e=3 10-12), ugt-29 (e=7 10-11), 5E318 (e=10-10), ugt-23 (e=3 10-10), ugt-32 (e=3 10-10), ugt-49 (e=3 10-10), ugt-31 (e=4 10-10), ugt-40 (e=5 10-10), ugt-15 (e=6 10-10), ugt-19 (e=7 10-10), which may contain interesting functional annotation.
The closest A.thaliana genes, according to BlastP, are the AceView genes UGT84A3 (e=2 10-12), AT3G02100 (e=3 10-11), AT5G17030 (e=4 10-10), UGT84A4 (e=4 10-10), AT5G05900 (e=4 10-10), UGT84B1 (e=4 10-10), AT5G17040 (e=6 10-10), AT2G29750 (e=6 10-10), AT1G05680 (e=7 10-10), which may contain interesting functional annotation
RNA_seq discoveries back to top
Expression/conservation in primates tissues evaluated by cross-mapping to human. back to top
RNA-seq gene expression profile across 16 selected tissues from the Non-Human Primates Reference Transcriptome Resource (link to NHPRTR project).
- Primates: Apes (HUM: Human (Illumina BodyMap 2), CHP: Chimpanzee), Old World monkeys (PTM: Pig-Tailed Macaque, JMI Japanese Macaque, RMI Rhesus Macaque Indian, RMC Rhesus Macaque Chinese, CMM Cynomolgus Macaque Mauritian, CMC Cynomolgus Macaque Chinese, BAB Olive Baboon, SMY Sooty Mangabey); New World monkeys (MST common Marmoset, SQM Squirrel Monkey, OWL Owl Monkey); and Lemurs (MLM Mouse Lemur, RTL Ring-Tailed Lemur).
- The level for significantly expressed genes is color coded in 8 equal sized bins (light to dark green). Light gray is for weak not-accurately measured expression (2 to 8 reads above intergenic background); dark gray for no expression or no sequence conservation (0 read in gene). The plot to the right shows the distribution of measured expression values in all tissues for all genes (blue) and for this gene (green), in Magic index = log2(1000 sFPKM).
You may also examine the strand-specific genome coverage plots on the experimental AceView/Magic hub at UCSC, by tissue or by species. Tracks may be slow to load; please reload if some tracks come up yellow-greenish, and thanks to UCSC for the great work!.
          Complete gene on genome diagram: back to top
Please choose between the zoomable GIF version., and the Flash version.
This diagram shows in true scale the gene on the genome, the mRNAs and the cDNA clones.
Compact gene diagram back to top
Alternative mRNAs are shown aligned from 5' to 3' on a virtual genome where introns have been shrunk to a minimal length. Exon size is proportional to length, intron height reflects the number of cDNAs supporting each intron, the small numbers show the support of the introns in deep sequencing (with details in mouse-over) . Introns of the same color are identical, of different colors are different. 'Good proteins' are pink, partial or not-good proteins are yellow, uORFs are green. 5' cap or3' poly A flags show completeness of the transcript.
Sequences: click on the numbers to get the DNA back to top
mRNA variant mRNA matching the genome Best predicted protein 5' UTR 3' UTR uORF Upstream sequence Transcription
Downstream sequence
aAug10 2898 bp 541 aa 514 bp 758 bp 108 bp 2kb possibly including promoter 54680 bp 1kb
bAug10 2958 bp 541 aa 574 bp 758 bp 45 bp 2kb including Promoter 78644 bp 1kb
cAug10 627 bp 175 aa 99 bp 2kb 44789 bp 1kb
dAug10 634 bp 68 aa 426 bp 2kb 24455 bp 1kb
eAug10-unspliced 4580 bp 67 aa 332 bp 4044 bp 2kb 4580 bp 1kb
fAug10 1478 bp 278 aa 642 bp 2kb including Promoter 25279 bp 1kb
gAug10 563 bp 141 aa 524 bp 2kb including Promoter 69453 bp 1kb

Gene neighbors and Navigator on chromosome 4q26 back to top
ZOOM IN                D:disease,C:conserved,I:interactions,R:regulation,P:publications        
Annotated mRNA diagrams back to top
Bibliography:               14 articles in PubMed back to top
? Gene Summary Gene on genome mRNA:.a, .b, .c, .d, .e-u, .f, .g Alternative mRNAs features, proteins, introns, exons, sequences Expression Tissue Function, regulation, related genes DC

To mine knowledge about the gene, please click the 'Gene Summary' or the 'Function, regulation, related genes ' tab at the top of the page. The 'Gene Summary' page includes all we learnt about the gene, functional annotations of neighboring genes, maps, links to other sites and the bibliography. The 'Function, regulation, related genes ' page includes Diseases (D), Pathways, GO annotations, conserved domains (C), interactions (I) reference into function, and pointers to all genes with the same functional annotation.
To compare alternative variants, their summarized annotations, predicted proteins, introns and exons, or to access any sequence, click the 'Alternative mRNAs features' tab. To see a specific mRNA variant diagram, sequence and annotation, click the variant name in the 'mRNA' tab. To examine expression data from all cDNAs clustered in this gene by AceView, click the 'Expression tissue'.

If you know more about this gene, or found errors, please share your knowledge. Thank you !