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

Gene ID: 7357, updated on 1-Jun-2020

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
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

Genomic context

See UGCG in Genome Data Viewer
Location:
9q31.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (111896766..111935369)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (114659206..114697649)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene shortage in chiasmata 1 Neighboring gene RNA, U6 small nuclear 1013, pseudogene Neighboring gene microRNA 4668 Neighboring gene RNA, U6 small nuclear 710, pseudogene Neighboring gene uncharacterized LOC105376220

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

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
ceramide glucosyltransferase
Names
UDP-glucose:N-acylsphingosine D-glucosyltransferase
glucosylceramide synthase
NP_003349.1
XP_005252243.1
XP_016870596.1

NCBI Reference Sequences (RefSeq)

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
    UniProtKB/TrEMBL
    A0A024R157
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    111896766..111935369
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005252186.5XP_005252243.1  ceramide glucosyltransferase isoform X1

    Conserved Domains (1) summary
    pfam13506
    Location:1150
    Glyco_transf_21; Glycosyl transferase family 21
  2. XM_017015107.1XP_016870596.1  ceramide glucosyltransferase isoform X2

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