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    UGCG UDP-glucose ceramide glucosyltransferase [ Homo sapiens (human) ]

    Gene ID: 7357, updated on 9-Dec-2024

    Summary

    Official Symbol
    UGCGprovided by HGNC
    Official Full Name
    UDP-glucose ceramide glucosyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:12524
    See related
    Ensembl:ENSG00000148154 MIM:602874; AllianceGenome:HGNC:12524
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GCS; GLCT1
    Summary
    This gene encodes an enzyme that catalyzes the first glycosylation step in the biosynthesis of glycosphingolipids, which are membrane components containing lipid and sugar moieties. The product of this reaction is glucosylceramide, which is the core structure of many glycosphingolipids. [provided by RefSeq, Dec 2014]
    Expression
    Ubiquitous expression in bone marrow (RPKM 38.2), adrenal (RPKM 32.9) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See UGCG in Genome Data Viewer
    Location:
    9q31.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (111896814..111935369)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (124068161..124106716)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (114659094..114697649)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902249 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106030 Neighboring gene RNA, U6 small nuclear 1013, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:114630592-114631111 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:114637095-114637945 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:114648577-114649405 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:114658545-114659128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28801 Neighboring gene uncharacterized LOC124902250 Neighboring gene microRNA 4668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28802 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:114736633-114736863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28805 Neighboring gene RNA, U6 small nuclear 710, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ceramide glucosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ceramide glucosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ceramide glucosyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cornified envelope assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in establishment of skin barrier ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glucosylceramide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glucosylceramide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glycosphingolipid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in intestinal lipid absorption ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in keratinocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in leptin-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein lipidation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    ceramide glucosyltransferase
    Names
    UDP-glucose:N-acylsphingosine D-glucosyltransferase
    glucosylceramide synthase
    glycosylceramide synthase
    NP_003349.1
    XP_016870596.1
    XP_047279800.1
    XP_054219720.1
    XP_054219721.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_003358.3NP_003349.1  ceramide glucosyltransferase

      See identical proteins and their annotated locations for NP_003349.1

      Status: REVIEWED

      Source sequence(s)
      AK314847, AL442066, BC038711, BM052821, D50840
      Consensus CDS
      CCDS6782.1
      UniProtKB/Swiss-Prot
      Q16739, Q5T258
      Related
      ENSP00000363397.3, ENST00000374279.4
      Conserved Domains (1) summary
      cd02520
      Location:51280
      Glucosylceramide_synthase; Glucosylceramide synthase catalyzes the first glycosylation step of glycosphingolipid synthesis

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      111896814..111935369
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015107.2XP_016870596.1  ceramide glucosyltransferase isoform X2

    2. XM_047423844.1XP_047279800.1  ceramide glucosyltransferase isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      124068161..124106716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363746.1XP_054219721.1  ceramide glucosyltransferase isoform X2

    2. XM_054363745.1XP_054219720.1  ceramide glucosyltransferase isoform X1