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GALM galactose mutarotase [ Homo sapiens (human) ]

Gene ID: 130589, updated on 1-Jun-2020

Summary

Official Symbol
GALMprovided by HGNC
Official Full Name
galactose mutarotaseprovided by HGNC
Primary source
HGNC:HGNC:24063
See related
Ensembl:ENSG00000143891 MIM:137030
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

Genomic context

See GALM in Genome Data Viewer
Location:
2p22.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (38665922..38734765)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (38893052..38961909)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr2.1526 Neighboring gene CRISPRi-validated cis-regulatory element chr2.1528 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 IV
MedGen: CN280928 OMIM: 618881 GeneReviews: Not available
not available

NHGRI 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.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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  aldose 1-epimerase

    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
    Q96C23
    Related
    ENSP00000272252.5, ENST00000272252.10
    Conserved Domains (1) summary
    cd09019
    Location:29339
    galactose_mutarotase_like; galactose mutarotase_like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    38665922..38734765
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532540.2XP_011530842.1  aldose 1-epimerase isoform X1

    See identical proteins and their annotated locations for XP_011530842.1

    UniProtKB/Swiss-Prot
    Q96C23
    Related
    ENSP00000409083.1, ENST00000444351.5
    Conserved Domains (1) summary
    cd09019
    Location:29212
    galactose_mutarotase_like; galactose mutarotase_like

RNA

  1. XR_244925.2 RNA Sequence

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