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    GALC galactosylceramidase [ Homo sapiens (human) ]

    Gene ID: 2581, updated on 6-Dec-2016
    Official Symbol
    GALCprovided by HGNC
    Official Full Name
    galactosylceramidaseprovided by HGNC
    Primary source
    HGNC:HGNC:4115
    See related
    Ensembl:ENSG00000054983 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]
    Orthologs
    Location:
    14q31.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (87933014..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 LOC105370610 Neighboring gene uncharacterized LOC107984691 Neighboring gene uncharacterized LOC105370611 Neighboring gene family with sequence similarity 35, member A2 (pseudogene) Neighboring gene uncharacterized LOC107984669 Neighboring gene RNA, U6 small nuclear 835, pseudogene 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
    IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary 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

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat protein transduction domain increases expression of GALC fusion protein mainly through increased translation efficiency in 293T cells PubMed

    Go to the HIV-1, Human 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...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • 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
     
    galactosylceramidase activity TAS
    Traceable Author Statement
    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
     
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    GALCERase
    galactocerebroside beta-galactosidase
    galactosylceramide beta-galactosidase
    galactosylceraminidase
    testis tissue sperm-binding protein Li 88E
    testis tissue sperm-binding protein Li 89A
    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 RefSeqGene

      Range
      5293..65550
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for 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
      UniProtKB/TrEMBL
      A0A0A0MQV0
      Related
      ENSP00000261304, OTTHUMP00000027906, ENST00000261304, OTTHUMT00000071559
      Conserved Domains (2) summary
      pfam02057
      Location:17685
      Glyco_hydro_59; Glycosyl hydrolase family 59
      cl23815
      Location:138358
      Glyco_hydro_30; O-Glycosyl hydrolase family 30
    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/Swiss-Prot
      P54803
      Related
      ENSP00000377198, OTTHUMP00000244264, ENST00000393568, OTTHUMT00000410096
      Conserved Domains (2) summary
      pfam02057
      Location:17662
      Glyco_hydro_59; Glycosyl hydrolase family 59
      cl23815
      Location:115335
      Glyco_hydro_30; O-Glycosyl hydrolase family 30
    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
      Related
      ENSP00000377199, OTTHUMP00000244263, ENST00000393569, OTTHUMT00000410094
      Conserved Domains (2) summary
      pfam02057
      Location:39659
      Glyco_hydro_59; Glycosyl hydrolase family 59
      cl23815
      Location:112332
      Glyco_hydro_30; O-Glycosyl hydrolase family 30

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      87933014..87993665 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536618.2XP_011534920.1  

      Related
      ENSP00000437513, OTTHUMP00000244262, ENST00000544807, OTTHUMT00000410093
      Conserved Domains (2) summary
      pfam02057
      Location:10629
      Glyco_hydro_59; Glycosyl hydrolase family 59
      cl23815
      Location:82302
      Glyco_hydro_30; O-Glycosyl hydrolase family 30

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      88337479..88398139 complement
      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.
    Support Center