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GALM galactose mutarotase [ Homo sapiens (human) ]

Gene ID: 130589, updated on 3-Apr-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_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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. 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. Liu X, et al. Mol Psychiatry, 2011 Jun. PMID 21339755, Free PMC Article
  2. Galactomutarotase and other galactose-related genes are rapidly induced by retinoic acid in human myeloid cells. Pai T, et al. Biochemistry, 2007 Dec 25. PMID 18052213, Free PMC Article
  3. Molecular structure of human galactose mutarotase. Thoden JB, et al. J Biol Chem, 2004 May 28. PMID 15026423
  4. Structure and function of enzymes of the Leloir pathway for galactose metabolism. Holden HM, et al. J Biol Chem, 2003 Nov 7. PMID 12923184
  5. Isolation and properties of mutarotase in erythrocytes. Sacks W. Arch Biochem Biophys, 1968 Mar 11. PMID 5661008

See all (25) 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
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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)

Genotypes

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_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_047443419.1 → XP_047299375.1  galactose mutarotase isoform X1

    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

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

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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