GALM galactose mutarotase [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 2p22.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (38666114..38734765)
RS_2023_03	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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Identification and characterisation of human aldose 1-epimerase.
Title: Identification and characterisation of human aldose 1-epimerase.
The enzyme is a monomer and has a similar structure to the Lactococcus lactis mutarotase.
Title: Molecular structure of human galactose mutarotase.
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.

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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	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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH103756 (e-PCR)
- UniSTS:98081

D2S2331 (e-PCR)
- UniSTS:20566

GALM__6775 (e-PCR)
- UniSTS:471440

RH46052 (e-PCR)
- UniSTS:68282

Homology

Homologs of the GALM gene: The GALM gene is conserved in dog, cow, mouse, rat, chicken, zebrafish, mosquito, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 516 organisms have orthologs with human gene GALM
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables aldose 1-epimerase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
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	PubMed
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 more info	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

EC 5.1.3.3

XP_011530842.1

EC 5.1.3.3

XP_047299375.1

EC 5.1.3.3

XP_054196547.1

EC 5.1.3.3

XP_054196548.1

EC 5.1.3.3

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.