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    GALM galactose mutarotase [ Homo sapiens (human) ]

    Gene ID: 130589, updated on 10-Dec-2024

    Summary

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    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
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    Genomic context

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    See GALM in Genome Data Viewer
    Location:
    2p22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (38666114..38734765)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (38672993..38743547)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Mutant hamster cells exhibiting a pleiotropic effect on carbohydrate metabolism. Sun NC, et al. Proc Natl Acad Sci U S A, 1975 Feb. PMID 164654, Free PMC Article
    2. Synteny of the human genes for Gal-1-PT, ACP1, MDH-1, and Gal+-Act and assignment to chromosome 2. Chu EH, et al. Cytogenet Cell Genet, 1975. PMID 1192801
    3. Mutarotase in erythrocytes: isolation and properties. Sacks W. Science, 1967 Oct 27. PMID 4963341
    4. Isolation and properties of mutarotase in erythrocytes. Sacks W. Arch Biochem Biophys, 1968 Mar 11. PMID 5661008
    5. Structure and function of enzymes of the Leloir pathway for galactose metabolism. Holden HM, et al. J Biol Chem, 2003 Nov 7. PMID 12923184

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This study demonistrated that polymorphism in galactose mutarotase (GALM) is associated with serotonin transporter binding potential in the human thalamus.
      Title: 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.
    2. Identification and characterisation of human aldose 1-epimerase.
      Title: Identification and characterisation of human aldose 1-epimerase.
    3. The enzyme is a monomer and has a similar structure to the Lactococcus lactis mutarotase.
      Title: Molecular structure of human galactose mutarotase.
    4. Gene encodes a functional aldose 1-epimerase (mutarotase). The enzyme exhibits (approx. four-fold) preference for galactose over glucose. Mutation E307A results in no detactable activity.
      Title: Identification and characterisation of human aldose 1-epimerase.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

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

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aldose 1-epimerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables aldose 1-epimerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within carbohydrate metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in galactose catabolic process via UDP-galactose IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in galactose catabolic process via UDP-galactose IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in galactose metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glucose metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glucose metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    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)

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    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_138801.3 → NP_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:29 → 339
      galactose_mutarotase_like; galactose mutarotase_like

    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_000002.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      H7C320
      Related
      ENSP00000409083.1, ENST00000444351.5

    2. XM_011532540.3 → XP_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:29 → 212
      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_054340573.1 → XP_054196548.1  galactose mutarotase isoform X1

      UniProtKB/TrEMBL
      H7C320

    2. XM_054340572.1 → XP_054196547.1  galactose mutarotase isoform X1

      UniProtKB/TrEMBL
      H7C320
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96C23.1 GenPept UniProtKB/Swiss-Prot:Q96C23

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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