UniProtKB - Q96C23 (GALM_HUMAN)
Galactose mutarotase
GALM
Functioni
Mutarotase that catalyzes the interconversion of beta-D-galactose and alpha-D-galactose during galactose metabolism (PubMed:12753898).
Beta-D-galactose is metabolized in the liver into glucose 1-phosphate, the primary metabolic fuel, by the action of four enzymes that constitute the Leloir pathway: GALM, GALK1 (galactokinase), GALT (galactose-1-phosphate uridylyltransferase) and GALE (UDP-galactose-4'-epimerase) (PubMed:30451973).
Involved in the maintenance of the equilibrium between the beta- and alpha-anomers of galactose, therefore ensuring a sufficient supply of the alpha-anomer for GALK1 (PubMed:12753898).
Also active on D-glucose although shows a preference for galactose over glucose (PubMed:12753898).
2 PublicationsCatalytic activityi
- EC:5.1.3.31 PublicationThis reaction proceeds in the backward1 Publication direction.
- EC:5.1.3.31 Publication
Kineticsi
- KM=37 mM for galactose (at 20 degrees Celsius)1 Publication
- KM=54 mM for glucose (at 20 degrees Celsius)1 Publication
: hexose metabolism Pathwayi
This protein is involved in the pathway hexose metabolism, which is part of Carbohydrate metabolism.1 PublicationView all proteins of this organism that are known to be involved in the pathway hexose metabolism and in Carbohydrate metabolism.
Pathwayi: galactose metabolism
This protein is involved in the pathway galactose metabolism, which is part of Carbohydrate metabolism.1 PublicationView all proteins of this organism that are known to be involved in the pathway galactose metabolism and in Carbohydrate metabolism.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 107 | Beta-D-galactoseCombined sources1 Publication | 1 | |
Active sitei | 176 | Proton donor1 Publication | 1 | |
Binding sitei | 243 | Beta-D-galactoseCombined sources1 Publication | 1 | |
Binding sitei | 279 | Beta-D-galactoseCombined sources1 Publication | 1 | |
Active sitei | 307 | Proton acceptor1 Publication | 1 | |
Binding sitei | 307 | Beta-D-galactoseCombined sources1 Publication | 1 |
GO - Molecular functioni
- aldose 1-epimerase activity Source: UniProtKB
- carbohydrate binding Source: InterPro
GO - Biological processi
- carbohydrate metabolic process Source: MGI
- galactose catabolic process via UDP-galactose Source: GO_Central
- galactose metabolic process Source: UniProtKB
- glucose metabolic process Source: UniProtKB
Keywordsi
Molecular function | Isomerase |
Biological process | Carbohydrate metabolism |
Enzyme and pathway databases
BRENDAi | 5.1.3.3, 2681 |
PathwayCommonsi | Q96C23 |
SABIO-RKi | Q96C23 |
SignaLinki | Q96C23 |
UniPathwayi | UPA00214 UPA00242 |
Names & Taxonomyi
Protein namesi | Recommended name: Galactose mutarotase2 Publications (EC:5.1.3.31 Publication)Alternative name(s): Aldose 1-epimerase1 Publication |
Gene namesi | Name:GALMImported ORF Names:BLOCK25 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24063, GALM |
MIMi | 137030, gene |
neXtProti | NX_Q96C23 |
VEuPathDBi | HostDB:ENSG00000143891 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm Curated
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB-SubCell
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Galactosemia 4 (GALAC4)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083547 | 82 – 342 | Missing in GALAC4; loss of protein accumulation. 1 PublicationAdd BLAST | 261 | |
Natural variantiVAR_083548 | 142 | G → R in GALAC4; unknown pathological significance; decreased protein stability. 1 PublicationCorresponds to variant dbSNP:rs114440198Ensembl. | 1 | |
Natural variantiVAR_083549 | 267 | R → G in GALAC4; decreased protein stability. 1 Publication | 1 | |
Natural variantiVAR_083550 | 311 – 342 | Missing in GALAC4; decreased protein stability. 1 PublicationAdd BLAST | 32 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 107 | H → A: Decreased activity by 5-fold. 1 Publication | 1 | |
Mutagenesisi | 176 | H → A: Decreased activity by 300-fold. 1 Publication | 1 | |
Mutagenesisi | 307 | E → A: Loss of activity. 1 Publication | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 130589 |
MalaCardsi | GALM |
MIMi | 618881, phenotype |
OpenTargetsi | ENSG00000143891 |
Orphaneti | 570422, Galactose mutarotase deficiency |
PharmGKBi | PA134980075 |
Miscellaneous databases
Pharosi | Q96C23, Tbio |
Genetic variation databases
BioMutai | GALM |
DMDMi | 67463772 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000197433 | 2 – 342 | Galactose mutarotaseAdd BLAST | 341 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 14 | PhosphoserineCombined sources | 1 | |
Modified residuei | 124 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q96C23 |
jPOSTi | Q96C23 |
MassIVEi | Q96C23 |
MaxQBi | Q96C23 |
PaxDbi | Q96C23 |
PeptideAtlasi | Q96C23 |
PRIDEi | Q96C23 |
ProteomicsDBi | 76151 |
PTM databases
iPTMneti | Q96C23 |
PhosphoSitePlusi | Q96C23 |
Expressioni
Gene expression databases
Bgeei | ENSG00000143891, Expressed in kidney epithelium and 222 other tissues |
ExpressionAtlasi | Q96C23, baseline and differential |
Genevisiblei | Q96C23, HS |
Organism-specific databases
HPAi | ENSG00000143891, Tissue enhanced (adrenal gland, kidney) |
Interactioni
Subunit structurei
Monomer.
2 PublicationsProtein-protein interaction databases
BioGRIDi | 126244, 20 interactors |
IntActi | Q96C23, 3 interactors |
STRINGi | 9606.ENSP00000272252 |
Miscellaneous databases
RNActi | Q96C23, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q96C23 |
SMRi | Q96C23 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q96C23 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 81 – 82 | Beta-D-galactose bindingCombined sources1 Publication | 2 | |
Regioni | 176 – 178 | Beta-D-galactose bindingCombined sources1 Publication | 3 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1604, Eukaryota |
GeneTreei | ENSGT00510000047589 |
HOGENOMi | CLU_031753_2_0_1 |
InParanoidi | Q96C23 |
OMAi | ATWLSCK |
OrthoDBi | 978899at2759 |
PhylomeDBi | Q96C23 |
TreeFami | TF324207 |
Family and domain databases
Gene3Di | 2.70.98.10, 1 hit |
InterProi | View protein in InterPro IPR018052, Ald1_epimerase_CS IPR015443, Aldose_1-epimerase IPR008183, Aldose_1/G6P_1-epimerase IPR011013, Gal_mutarotase_sf_dom IPR014718, GH-type_carb-bd |
Pfami | View protein in Pfam PF01263, Aldose_epim, 1 hit |
PIRSFi | PIRSF005096, GALM, 1 hit |
SUPFAMi | SSF74650, SSF74650, 1 hit |
PROSITEi | View protein in PROSITE PS00545, ALDOSE_1_EPIMERASE, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MASVTRAVFG ELPSGGGTVE KFQLQSDLLR VDIISWGCTI TALEVKDRQG
60 70 80 90 100
RASDVVLGFA ELEGYLQKQP YFGAVIGRVA NRIAKGTFKV DGKEYHLAIN
110 120 130 140 150
KEPNSLHGGV RGFDKVLWTP RVLSNGVQFS RISPDGEEGY PGELKVWVTY
160 170 180 190 200
TLDGGELIVN YRAQASQATP VNLTNHSYFN LAGQASPNIN DHEVTIEADT
210 220 230 240 250
YLPVDETLIP TGEVAPVQGT AFDLRKPVEL GKHLQDFHLN GFDHNFCLKG
260 270 280 290 300
SKEKHFCARV HHAASGRVLE VYTTQPGVQF YTGNFLDGTL KGKNGAVYPK
310 320 330 340
HSGFCLETQN WPDAVNQPRF PPVLLRPGEE YDHTTWFKFS VA
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH7C1B5 | H7C1B5_HUMAN | Galactose mutarotase | GALM | 218 | Annotation score: | ||
H7C320 | H7C320_HUMAN | Galactose mutarotase | GALM | 194 | Annotation score: | ||
B8ZZ75 | B8ZZ75_HUMAN | Galactose mutarotase | GALM | 194 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083547 | 82 – 342 | Missing in GALAC4; loss of protein accumulation. 1 PublicationAdd BLAST | 261 | |
Natural variantiVAR_083548 | 142 | G → R in GALAC4; unknown pathological significance; decreased protein stability. 1 PublicationCorresponds to variant dbSNP:rs114440198Ensembl. | 1 | |
Natural variantiVAR_024451 | 190 | N → Y. Corresponds to variant dbSNP:rs6741892Ensembl. | 1 | |
Natural variantiVAR_083549 | 267 | R → G in GALAC4; decreased protein stability. 1 Publication | 1 | |
Natural variantiVAR_083550 | 311 – 342 | Missing in GALAC4; decreased protein stability. 1 PublicationAdd BLAST | 32 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY064382 , AY064381, AY064379, AY064380, AY064378 Genomic DNA Translation: AAL62475.1 Sequence problems. AY064385 , AY064378, AY064380, AY064379, AY064381, AY064384, AY064383 Genomic DNA Translation: AAL62476.1 EU794611 mRNA Translation: ACJ13665.1 AK291489 mRNA Translation: BAF84178.1 AC074366 Genomic DNA Translation: AAX93101.1 CH471053 Genomic DNA Translation: EAX00367.1 BC014916 mRNA Translation: AAH14916.1 BC019263 mRNA Translation: AAH19263.1 |
CCDSi | CCDS1797.1 |
RefSeqi | NP_620156.1, NM_138801.2 XP_011530842.1, XM_011532540.1 |
Genome annotation databases
Ensembli | ENST00000272252.10; ENSP00000272252.5; ENSG00000143891.17 |
GeneIDi | 130589 |
KEGGi | hsa:130589 |
MANE-Selecti | ENST00000272252.10; ENSP00000272252.5; NM_138801.3; NP_620156.1 |
UCSCi | uc002rqy.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY064382 , AY064381, AY064379, AY064380, AY064378 Genomic DNA Translation: AAL62475.1 Sequence problems. AY064385 , AY064378, AY064380, AY064379, AY064381, AY064384, AY064383 Genomic DNA Translation: AAL62476.1 EU794611 mRNA Translation: ACJ13665.1 AK291489 mRNA Translation: BAF84178.1 AC074366 Genomic DNA Translation: AAX93101.1 CH471053 Genomic DNA Translation: EAX00367.1 BC014916 mRNA Translation: AAH14916.1 BC019263 mRNA Translation: AAH19263.1 |
CCDSi | CCDS1797.1 |
RefSeqi | NP_620156.1, NM_138801.2 XP_011530842.1, XM_011532540.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1SNZ | X-ray | 2.20 | A/B | 1-342 | [»] | |
1SO0 | X-ray | 2.30 | A/B/C/D | 1-342 | [»] | |
AlphaFoldDBi | Q96C23 | |||||
SMRi | Q96C23 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 126244, 20 interactors |
IntActi | Q96C23, 3 interactors |
STRINGi | 9606.ENSP00000272252 |
PTM databases
iPTMneti | Q96C23 |
PhosphoSitePlusi | Q96C23 |
Genetic variation databases
BioMutai | GALM |
DMDMi | 67463772 |
Proteomic databases
EPDi | Q96C23 |
jPOSTi | Q96C23 |
MassIVEi | Q96C23 |
MaxQBi | Q96C23 |
PaxDbi | Q96C23 |
PeptideAtlasi | Q96C23 |
PRIDEi | Q96C23 |
ProteomicsDBi | 76151 |
Protocols and materials databases
Antibodypediai | 29513, 217 antibodies from 26 providers |
DNASUi | 130589 |
Genome annotation databases
Ensembli | ENST00000272252.10; ENSP00000272252.5; ENSG00000143891.17 |
GeneIDi | 130589 |
KEGGi | hsa:130589 |
MANE-Selecti | ENST00000272252.10; ENSP00000272252.5; NM_138801.3; NP_620156.1 |
UCSCi | uc002rqy.4, human |
Organism-specific databases
CTDi | 130589 |
DisGeNETi | 130589 |
GeneCardsi | GALM |
HGNCi | HGNC:24063, GALM |
HPAi | ENSG00000143891, Tissue enhanced (adrenal gland, kidney) |
MalaCardsi | GALM |
MIMi | 137030, gene 618881, phenotype |
neXtProti | NX_Q96C23 |
OpenTargetsi | ENSG00000143891 |
Orphaneti | 570422, Galactose mutarotase deficiency |
PharmGKBi | PA134980075 |
VEuPathDBi | HostDB:ENSG00000143891 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1604, Eukaryota |
GeneTreei | ENSGT00510000047589 |
HOGENOMi | CLU_031753_2_0_1 |
InParanoidi | Q96C23 |
OMAi | ATWLSCK |
OrthoDBi | 978899at2759 |
PhylomeDBi | Q96C23 |
TreeFami | TF324207 |
Enzyme and pathway databases
UniPathwayi | UPA00214 UPA00242 |
BRENDAi | 5.1.3.3, 2681 |
PathwayCommonsi | Q96C23 |
SABIO-RKi | Q96C23 |
SignaLinki | Q96C23 |
Miscellaneous databases
BioGRID-ORCSi | 130589, 12 hits in 1078 CRISPR screens |
ChiTaRSi | GALM, human |
EvolutionaryTracei | Q96C23 |
GeneWikii | Galactose_mutarotase |
GenomeRNAii | 130589 |
Pharosi | Q96C23, Tbio |
PROi | PR:Q96C23 |
RNActi | Q96C23, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000143891, Expressed in kidney epithelium and 222 other tissues |
ExpressionAtlasi | Q96C23, baseline and differential |
Genevisiblei | Q96C23, HS |
Family and domain databases
Gene3Di | 2.70.98.10, 1 hit |
InterProi | View protein in InterPro IPR018052, Ald1_epimerase_CS IPR015443, Aldose_1-epimerase IPR008183, Aldose_1/G6P_1-epimerase IPR011013, Gal_mutarotase_sf_dom IPR014718, GH-type_carb-bd |
Pfami | View protein in Pfam PF01263, Aldose_epim, 1 hit |
PIRSFi | PIRSF005096, GALM, 1 hit |
SUPFAMi | SSF74650, SSF74650, 1 hit |
PROSITEi | View protein in PROSITE PS00545, ALDOSE_1_EPIMERASE, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | GALM_HUMAN | |
Accessioni | Q96C23Primary (citable) accession number: Q96C23 Secondary accession number(s): Q53RY1, Q8NIA2, V9HWA8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 10, 2005 |
Last sequence update: | December 1, 2001 | |
Last modified: | May 25, 2022 | |
This is version 160 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families