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GALC galactosylceramidase [ Homo sapiens (human) ]

Gene ID: 2581, updated on 26-Aug-2014
Official Symbol
GALCprovided by HGNC
Official Full Name
galactosylceramidaseprovided by HGNC
Primary source
HGNC:4115
See related
Ensembl:ENSG00000054983; HPRD:06057; MIM:606890; Vega:OTTHUMG00000028646
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
Summary
This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
See GALC in Epigenomics, MapViewer
Location:
14q31
Exon count:
21
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 14 NC_000014.9 (87837820..87993665, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (88304164..88460009, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928767 Neighboring gene uncharacterized LOC102724380 Neighboring gene uncharacterized LOC283585 Neighboring gene uncharacterized LOC101928791 Neighboring gene family with sequence similarity 35, member A2 (pseudogene) Neighboring gene long intergenic non-protein coding RNA 1146 Neighboring gene G protein-coupled receptor 65

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Galactosylceramide beta-galactosidase deficiency
MedGen: C0023521 OMIM: 245200 GeneReviews: Krabbe Disease
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study of breast cancer in women of African ancestry.
NHGRI GWA Catalog
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog

Replication interactions

Interaction Pubs
Knockdown of galactosylceramidase (GALC) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Glycosphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Glycosphingolipid metabolism, organism-specific biosystemThe steps involved in the synthesis of glycosphingolipids (sphingolipids with one or more sugars attached) are annotated here (Gault et al. 2010).
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Sphingolipid metabolism, organism-specific biosystem (from KEGG)
    Sphingolipid metabolism, organism-specific biosystem
    Sphingolipid metabolism
  • Sphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Sphingolipid metabolism, organism-specific biosystemSphingolipids are derivatives of long chain sphingoid bases such as sphingosine (trans-1,3-dihydroxy 2-amino-4-octadecene), an 18-carbon unsaturated amino alcohol which is the most abundant sphingoid...
  • Sphingolipid metabolism, conserved biosystem (from KEGG)
    Sphingolipid metabolism, conserved biosystem
    Sphingolipid metabolism
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
galactosylceramidase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
galactosylceramide catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
sphingolipid metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosome TAS
Traceable Author Statement
more info
PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
galactocerebrosidase
Names
galactocerebrosidase
GALCERase
galactosylceraminidase
galactocerebroside beta-galactosidase
galactosylceramide beta-galactosidase
NP_000144.2
NP_001188330.1
NP_001188331.1

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.

Genomic

  1. NG_011853.2 

    Range
    4899..65550
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000153.3NP_000144.2  galactocerebrosidase isoform a precursor

    See proteins identical to NP_000144.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AL136501, BC036518, BQ015788, D25283, D25284, DA323070, H80485
    Consensus CDS
    CCDS9878.2
    UniProtKB/Swiss-Prot
    P54803
    Related
    ENSP00000261304, OTTHUMP00000027906, ENST00000261304, OTTHUMT00000071559
    Conserved Domains (2) summary
    pfam02057
    Location:40685
    Blast Score: 3630
    Glyco_hydro_59; Glycosyl hydrolase family 59
    cl19200
    Location:138358
    Blast Score: 115
    Cellulase-like; Sugar-binding cellulase-like
  2. NM_001201401.1NP_001188330.1  galactocerebrosidase isoform c precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform c), compared to isoform a.
    Source sequence(s)
    AL136501, BC036518, BQ015788, D25283, D25284, DA323070, H80485
    Consensus CDS
    CCDS55936.1
    UniProtKB/TrEMBL
    E7EPA4
    UniProtKB/Swiss-Prot
    P54803
    Conserved Domains (2) summary
    pfam02057
    Location:40662
    Blast Score: 3458
    Glyco_hydro_59; Glycosyl hydrolase family 59
    cl19200
    Location:115335
    Blast Score: 115
    Cellulase-like; Sugar-binding cellulase-like
  3. NM_001201402.1NP_001188331.1  galactocerebrosidase isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AL136501, BC036518, BQ015788, D25283, DC334180, H80485
    Consensus CDS
    CCDS55937.1
    UniProtKB/Swiss-Prot
    P54803
    Conserved Domains (2) summary
    pfam02057
    Location:39659
    Blast Score: 3502
    Glyco_hydro_59; Glycosyl hydrolase family 59
    cl19200
    Location:112332
    Blast Score: 117
    Cellulase-like; Sugar-binding cellulase-like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 

    Range
    87837820..87993665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_245677.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000146.1 

    Range
    68569486..68630135
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 

    Range
    88337479..88398139
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001037525.2: Suppressed sequence

    Description
    NM_001037525.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.