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Aliases for GALM Gene

Aliases for GALM Gene

  • Galactose Mutarotase 2 3 4 5
  • Aldose 1-Epimerase 2 3
  • Aldose Mutarotase 2 3
  • Galactomutarotase 2 3
  • EC 5.1.3.3 4 58
  • Epididymis Secretory Sperm Binding Protein Li 63p 3
  • Galactose Enzyme Activator 3
  • HEL-S-63p 3
  • BLOCK25 3
  • GLAT 3
  • IBD1 3

External Ids for GALM Gene

Previous GeneCards Identifiers for GALM Gene

  • GC02P038867
  • GC02P038787

Summaries for GALM Gene

Entrez Gene Summary for GALM Gene

  • 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]

GeneCards Summary for GALM Gene

GALM (Galactose Mutarotase) is a Protein Coding gene. Among its related pathways are Glucose metabolism and Galactose metabolism. GO annotations related to this gene include carbohydrate binding and aldose 1-epimerase activity.

UniProtKB/Swiss-Prot for GALM Gene

  • Mutarotase converts alpha-aldose to the beta-anomer. It is active on D-glucose, L-arabinose, D-xylose, D-galactose, maltose and lactose (By similarity).

Gene Wiki entry for GALM Gene

Additional gene information for GALM Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GALM Gene

Genomics for GALM Gene

Regulatory Elements for GALM Gene

Enhancers for GALM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H038689 1.5 Ensembl ENCODE dbSUPER 21.7 +25.9 25948 5.4 PKNOX1 FOXA2 MLX ARID4B SIN3A TCF12 ZNF121 FOS MXD4 MIER2 GALM SRSF7 ENSG00000232518 ENSG00000252473 HNRNPLL SOS1 ENSG00000235586 RPLP0P6
GH02H038664 1.7 FANTOM5 ENCODE dbSUPER 16.8 +0.8 823 3.5 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 SRSF7 GALM HNRNPLL ATL2 ENSG00000232518
GH02H038709 1 ENCODE dbSUPER 20.2 +43.8 43779 1.2 HDGF PKNOX1 RB1 BACH1 BMI1 EBF1 RELA ATF7 ZSCAN29 RUNX3 GALM ENSG00000232518 HNRNPLL ENSG00000235586 SRSF7
GH02H038701 1.2 Ensembl ENCODE dbSUPER 16.4 +36.5 36526 1 TAL1 HLF DPF2 ATF2 TCF12 JUND SMARCA4 IKZF1 FOS KDM1A GALM ENSG00000232518 HNRNPLL ENSG00000235586 SRSF7
GH02H038696 0.9 ENCODE dbSUPER 21.4 +31.7 31697 2.5 BCOR STAT1 NFIB CEBPB CEBPG DPF2 ZNF7 FOXA1 GATA3 NFIC GALM ENSG00000232518 HNRNPLL ENSG00000235586 SRSF7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GALM on UCSC Golden Path with GeneCards custom track

Promoters for GALM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000115589 690 2001 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9

Genomic Locations for GALM Gene

Genomic Locations for GALM Gene
chr2:38,665,910-38,741,237
(GRCh38/hg38)
Size:
75,328 bases
Orientation:
Plus strand
chr2:38,893,052-38,968,379
(GRCh37/hg19)

Genomic View for GALM Gene

Genes around GALM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALM Gene

Proteins for GALM Gene

  • Protein details for GALM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96C23-GALM_HUMAN
    Recommended name:
    Aldose 1-epimerase
    Protein Accession:
    Q96C23
    Secondary Accessions:
    • Q53RY1
    • Q8NIA2
    • V9HWA8

    Protein attributes for GALM Gene

    Size:
    342 amino acids
    Molecular mass:
    37766 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAL62475.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GALM Gene

neXtProt entry for GALM Gene

Selected DME Specific Peptides for GALM Gene

Q96C23:
  • GFDKVLWTP
  • YPKHSGFCLETQ
  • LRPGEEY
  • TNHSYFNL
  • WPDAVNQP
  • ANRIAKG
  • GTAFDLRKPVELG
  • VDIISWGCTITAL
  • FCARVHHA
  • QFYTGNFLDGTLKGK
  • GFDHNFCLK

Post-translational modifications for GALM Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GALM Gene

Domains & Families for GALM Gene

Gene Families for GALM Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GALM Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96C23

UniProtKB/Swiss-Prot:

GALM_HUMAN :
  • Belongs to the aldose epimerase family.
Family:
  • Belongs to the aldose epimerase family.
genes like me logo Genes that share domains with GALM: view

Function for GALM Gene

Molecular function for GALM Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Alpha-D-glucose = beta-D-glucose.
UniProtKB/Swiss-Prot Function:
Mutarotase converts alpha-aldose to the beta-anomer. It is active on D-glucose, L-arabinose, D-xylose, D-galactose, maltose and lactose (By similarity).

Enzyme Numbers (IUBMB) for GALM Gene

Phenotypes From GWAS Catalog for GALM Gene

Gene Ontology (GO) - Molecular Function for GALM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004034 aldose 1-epimerase activity IDA,IEA 12753898
GO:0016853 isomerase activity IEA --
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with GALM: view
genes like me logo Genes that share phenotypes with GALM: view

Animal Model Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GALM Gene

Localization for GALM Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALM Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GALM gene
Compartment Confidence
extracellular 5
nucleus 2
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GALM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with GALM: view

Pathways & Interactions for GALM Gene

genes like me logo Genes that share pathways with GALM: view

Pathways by source for GALM Gene

1 GeneGo (Thomson Reuters) pathway for GALM Gene

UniProtKB/Swiss-Prot Q96C23-GALM_HUMAN

  • Pathway: Carbohydrate metabolism; hexose metabolism.

Gene Ontology (GO) - Biological Process for GALM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006006 glucose metabolic process IDA 12753898
GO:0006012 galactose metabolic process IDA 12753898
GO:0019318 hexose metabolic process IEA --
GO:0033499 galactose catabolic process via UDP-galactose IBA --
genes like me logo Genes that share ontologies with GALM: view

No data available for SIGNOR curated interactions for GALM Gene

Drugs & Compounds for GALM Gene

(3) Drugs for GALM Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Beta-D-Glucose Experimental Pharma 0

(3) Additional Compounds for GALM Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Alpha-D-Glucose
  • a-D-Glucopyranose
  • a-D-Glucose
  • a-Dextrose
  • a-Glucose
  • alpha-D-Glucopyranose
492-62-6
genes like me logo Genes that share compounds with GALM: view

Transcripts for GALM Gene

Unigene Clusters for GALM Gene

Galactose mutarotase (aldose 1-epimerase):
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for GALM Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10
SP1: - -
SP2: -
SP3: - -
SP4:
SP5:

Relevant External Links for GALM Gene

GeneLoc Exon Structure for
GALM
ECgene alternative splicing isoforms for
GALM

Expression for GALM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GALM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GALM Gene

This gene is overexpressed in Adrenal Gland (x10.1), Kidney - Cortex (x4.3), and Liver (x4.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GALM Gene



Protein tissue co-expression partners for GALM Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GALM Gene:

GALM

SOURCE GeneReport for Unigene cluster for GALM Gene:

Hs.435012

Evidence on tissue expression from TISSUES for GALM Gene

  • Liver(4.3)
  • Nervous system(4.2)
  • Skin(4.1)
  • Kidney(2.7)
genes like me logo Genes that share expression patterns with GALM: view

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GALM Gene

Orthologs for GALM Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GALM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GALM 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GALM 33 34
  • 89.57 (n)
dog
(Canis familiaris)
Mammalia GALM 33 34
  • 87.62 (n)
rat
(Rattus norvegicus)
Mammalia Galm 33
  • 86.35 (n)
mouse
(Mus musculus)
Mammalia Galm 33 16 34
  • 85.67 (n)
oppossum
(Monodelphis domestica)
Mammalia GALM 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GALM 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves GALM 33 34
  • 67.54 (n)
lizard
(Anolis carolinensis)
Reptilia GALM 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galm 33
  • 68.91 (n)
Str.19129 33
zebrafish
(Danio rerio)
Actinopterygii galm 33 34
  • 63.81 (n)
Dr.18948 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004376 33
  • 54.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10467 34
  • 43 (a)
OneToMany
CG32445 34
  • 39 (a)
OneToMany
CG4988 34
  • 37 (a)
OneToMany
CG32444 34
  • 36 (a)
OneToMany
CG10996 34
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C01B4.6 34
  • 32 (a)
OneToMany
Y19D10A.16 34
  • 32 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 32 (a)
OneToMany
-- 34
  • 32 (a)
OneToMany
-- 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G17940 33
  • 54.79 (n)
rice
(Oryza sativa)
Liliopsida Os10g0155500 33
  • 56.15 (n)
Os.20067 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToOne
Species where no ortholog for GALM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GALM Gene

ENSEMBL:
Gene Tree for GALM (if available)
TreeFam:
Gene Tree for GALM (if available)

Paralogs for GALM Gene

(2) SIMAP similar genes for GALM Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with GALM: view

No data available for Paralogs for GALM Gene

Variants for GALM Gene

Sequence variations from dbSNP and Humsavar for GALM Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000035549 -- 38,723,665(+) GTACT(G/T)CAGTA intron-variant
rs1000047698 -- 38,670,181(+) TCATC(A/G)GCATG intron-variant
rs1000056321 -- 38,705,893(+) AGTGC(A/C)GTGGC intron-variant
rs1000097824 -- 38,724,229(+) TGTGA(C/T)TCTCA intron-variant
rs1000103332 -- 38,665,756(+) ATAGC(C/T)ACCGA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GALM Gene

Variant ID Type Subtype PubMed ID
nsv9646 CNV loss 18304495
nsv961401 CNV duplication 23825009
nsv828997 CNV loss 20364138
nsv828986 CNV loss 20364138
nsv828975 CNV loss 20364138
nsv820974 CNV duplication 20802225
nsv819664 CNV loss 19587683
nsv817751 CNV gain 17921354
nsv581487 CNV gain 21841781
nsv581485 CNV gain 21841781
nsv518220 CNV gain 19592680
nsv512771 CNV insertion 21212237
nsv441752 CNV gain 18776908
nsv213847 CNV deletion 16902084
nsv1116372 CNV deletion 24896259
nsv1114076 CNV deletion 24896259
esv3891860 CNV loss 25118596
esv3590421 CNV gain 21293372
esv3590420 CNV loss 21293372
esv3590419 CNV loss 21293372
esv3575232 CNV gain 25503493
esv2763640 CNV gain 21179565
esv2719950 CNV deletion 23290073
esv2667715 CNV deletion 23128226
esv2667436 CNV deletion 23128226
esv24300 CNV loss 19812545
esv2421335 CNV duplication 20811451
dgv6791n54 CNV gain 21841781
dgv6790n54 CNV gain 21841781

Variation tolerance for GALM Gene

Residual Variation Intolerance Score: 48.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.73; 83.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GALM Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALM Gene

Disorders for GALM Gene

Relevant External Links for GALM

Genetic Association Database (GAD)
GALM
Human Genome Epidemiology (HuGE) Navigator
GALM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GALM

No disorders were found for GALM Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GALM Gene

Publications for GALM Gene

  1. Identification and characterisation of human aldose 1-epimerase. (PMID: 12753898) Timson DJ … Reece RJ (FEBS letters 2003) 2 3 4 22 60
  2. Molecular structure of human galactose mutarotase. (PMID: 15026423) Thoden JB … Holden HM (The Journal of biological chemistry 2004) 3 4 22 60
  3. 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. (PMID: 21339755) Liu X … McMahon FJ (Molecular psychiatry 2011) 3 45 60
  4. Galactomutarotase and other galactose-related genes are rapidly induced by retinoic acid in human myeloid cells. (PMID: 18052213) Pai T … Ross AC (Biochemistry 2007) 3 22 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for GALM Gene

Sources for GALM Gene

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