U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    GALM galactose mutarotase [ Homo sapiens (human) ]

    Gene ID: 130589, updated on 17-Jun-2024

    Summary

    Official Symbol
    GALMprovided by HGNC
    Official Full Name
    galactose mutarotaseprovided by HGNC
    Primary source
    HGNC:HGNC:24063
    See related
    Ensembl:ENSG00000143891 MIM:137030; AllianceGenome:HGNC:24063
    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
    GLAT; IBD1; GALAC4; BLOCK25; HEL-S-63p
    Summary
    This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009]
    Expression
    Broad expression in kidney (RPKM 43.9), duodenum (RPKM 30.0) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GALM in Genome Data Viewer
    Location:
    2p22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (38666114..38734765)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (38672993..38743547)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (38893256..38961907)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2613 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11373 Neighboring gene ribosomal protein lateral stalk subunit P0 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:38763105-38763715 Neighboring gene Sharpr-MPRA regulatory region 10245 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:38779519-38779723 Neighboring gene heterogeneous nuclear ribonucleoprotein L like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11378 Neighboring gene CRISPRi-validated cis-regulatory element chr2.1526 Neighboring gene CRISPRi-validated cis-regulatory element chr2.1528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:38893008-38893520 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:38893521-38894033 Neighboring gene uncharacterized LOC124905993 Neighboring gene Sharpr-MPRA regulatory region 4561 Neighboring gene MPRA-validated peak3666 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15609 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:38967980-38968152 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11380 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15610 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:38982351-38983102 Neighboring gene serine and arginine rich splicing factor 7 Neighboring gene tetratricopeptide repeat domain 39D, 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?

    Phenotypes

    Associated conditions

    Description Tests
    Galactosemia 4
    MedGen: C5394377 OMIM: 618881 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A non-synonymous polymorphism in galactose mutarotase (GALM) is associated with serotonin transporter binding potential in the human thalamus: results of a genome-wide association study.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    galactose mutarotase
    Names
    aldose 1-epimerase
    aldose mutarotase
    epididymis secretory sperm binding protein Li 63p
    galactomutarotase
    galactose enzyme activator
    NP_620156.1
    XP_011530842.1
    XP_047299375.1
    XP_054196547.1
    XP_054196548.1

    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_138801.3NP_620156.1  galactose mutarotase

      See identical proteins and their annotated locations for NP_620156.1

      Status: REVIEWED

      Source sequence(s)
      AC074366, BC019263
      Consensus CDS
      CCDS1797.1
      UniProtKB/Swiss-Prot
      Q53RY1, Q8NIA2, Q96C23, V9HWA8
      UniProtKB/TrEMBL
      A0A384MDW6
      Related
      ENSP00000272252.5, ENST00000272252.10
      Conserved Domains (1) summary
      cd09019
      Location:29339
      galactose_mutarotase_like; galactose mutarotase_like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      38666114..38734765
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443419.1XP_047299375.1  galactose mutarotase isoform X1

      UniProtKB/TrEMBL
      H7C320
      Related
      ENSP00000409083.1, ENST00000444351.5
    2. XM_011532540.3XP_011530842.1  galactose mutarotase isoform X1

      See identical proteins and their annotated locations for XP_011530842.1

      UniProtKB/TrEMBL
      H7C320
      Conserved Domains (1) summary
      cd09019
      Location:29212
      galactose_mutarotase_like; galactose mutarotase_like

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      38672993..38743547
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340573.1XP_054196548.1  galactose mutarotase isoform X1

      UniProtKB/TrEMBL
      H7C320
    2. XM_054340572.1XP_054196547.1  galactose mutarotase isoform X1

      UniProtKB/TrEMBL
      H7C320