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Protein

Aldose 1-epimerase

Gene

GALM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).By similarity2 Publications

Catalytic activityi

Alpha-D-glucose = beta-D-glucose.PROSITE-ProRule annotation

Pathwayi: hexose metabolism

This protein is involved in the pathway hexose metabolism, which is part of Carbohydrate metabolism.
View all proteins of this organism that are known to be involved in the pathway hexose metabolism and in Carbohydrate metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei176Proton donor1
Binding sitei243Substrate1 Publication1
Active sitei307Proton acceptor1

GO - Molecular functioni

  • aldose 1-epimerase activity Source: UniProtKB
  • carbohydrate binding Source: InterPro

GO - Biological processi

Keywordsi

Molecular functionIsomerase
Biological processCarbohydrate metabolism

Enzyme and pathway databases

BioCyciMetaCyc:HS07125-MONOMER
BRENDAi5.1.3.3 2681
SABIO-RKiQ96C23
SignaLinkiQ96C23
UniPathwayi
UPA00242

Names & Taxonomyi

Protein namesi
Recommended name:
Aldose 1-epimerase (EC:5.1.3.3)
Alternative name(s):
Galactose mutarotase
Gene namesi
Name:GALM
ORF Names:BLOCK25
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000143891.16
HGNCiHGNC:24063 GALM
MIMi137030 gene
neXtProtiNX_Q96C23

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi107H → A: Reduces activity over 5-fold. 1 Publication1
Mutagenesisi176H → A: Loss of activity. 1 Publication1
Mutagenesisi307E → A: Loss of activity. 1 Publication1

Organism-specific databases

DisGeNETi130589
OpenTargetsiENSG00000143891
PharmGKBiPA134980075

Polymorphism and mutation databases

BioMutaiGALM
DMDMi67463772

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001974332 – 342Aldose 1-epimeraseAdd BLAST341

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei14PhosphoserineCombined sources1
Modified residuei124PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ96C23
MaxQBiQ96C23
PaxDbiQ96C23
PeptideAtlasiQ96C23
PRIDEiQ96C23
ProteomicsDBi76151

PTM databases

iPTMnetiQ96C23
PhosphoSitePlusiQ96C23

Expressioni

Gene expression databases

BgeeiENSG00000143891 Expressed in 208 organ(s), highest expression level in kidney epithelium
CleanExiHS_GALM
ExpressionAtlasiQ96C23 baseline and differential
GenevisibleiQ96C23 HS

Organism-specific databases

HPAiHPA035472
HPA035473
HPA064835

Interactioni

Subunit structurei

Monomer.1 Publication

Protein-protein interaction databases

BioGridi126244, 5 interactors
IntActiQ96C23, 1 interactor
STRINGi9606.ENSP00000272252

Structurei

Secondary structure

1342
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ96C23
SMRiQ96C23
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96C23

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni81 – 82Substrate binding2

Sequence similaritiesi

Belongs to the aldose epimerase family.Curated

Phylogenomic databases

eggNOGiKOG1604 Eukaryota
COG2017 LUCA
GeneTreeiENSGT00510000047589
HOGENOMiHOG000072798
HOVERGENiHBG051697
InParanoidiQ96C23
KOiK01785
OMAiATWLSCK
OrthoDBiEOG091G0COE
PhylomeDBiQ96C23
TreeFamiTF324207

Family and domain databases

Gene3Di2.70.98.10, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF01263 Aldose_epim, 1 hit
PIRSFiPIRSF005096 GALM, 1 hit
SUPFAMiSSF74650 SSF74650, 1 hit
PROSITEiView protein in PROSITE
PS00545 ALDOSE_1_EPIMERASE, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q96C23-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:342
Mass (Da):37,766
Last modified:December 1, 2001 - v1
Checksum:i611A54AE7E85813E
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C320H7C320_HUMAN
Aldose 1-epimerase
GALM
194Annotation score:
H7C1B5H7C1B5_HUMAN
Aldose 1-epimerase
GALM
218Annotation score:
B8ZZ75B8ZZ75_HUMAN
Aldose 1-epimerase
GALM
194Annotation score:

Sequence cautioni

The sequence AAL62475 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024451190N → Y. Corresponds to variant dbSNP:rs6741892Ensembl.1

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
CCDSiCCDS1797.1
RefSeqiNP_620156.1, NM_138801.2
XP_011530842.1, XM_011532540.1
UniGeneiHs.435012

Genome annotation databases

EnsembliENST00000272252; ENSP00000272252; ENSG00000143891
GeneIDi130589
KEGGihsa:130589
UCSCiuc002rqy.4 human

Keywords - Coding sequence diversityi

Polymorphism

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
CCDSiCCDS1797.1
RefSeqiNP_620156.1, NM_138801.2
XP_011530842.1, XM_011532540.1
UniGeneiHs.435012

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1SNZX-ray2.20A/B1-342[»]
1SO0X-ray2.30A/B/C/D1-342[»]
ProteinModelPortaliQ96C23
SMRiQ96C23
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126244, 5 interactors
IntActiQ96C23, 1 interactor
STRINGi9606.ENSP00000272252

PTM databases

iPTMnetiQ96C23
PhosphoSitePlusiQ96C23

Polymorphism and mutation databases

BioMutaiGALM
DMDMi67463772

Proteomic databases

EPDiQ96C23
MaxQBiQ96C23
PaxDbiQ96C23
PeptideAtlasiQ96C23
PRIDEiQ96C23
ProteomicsDBi76151

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000272252; ENSP00000272252; ENSG00000143891
GeneIDi130589
KEGGihsa:130589
UCSCiuc002rqy.4 human

Organism-specific databases

CTDi130589
DisGeNETi130589
EuPathDBiHostDB:ENSG00000143891.16
GeneCardsiGALM
HGNCiHGNC:24063 GALM
HPAiHPA035472
HPA035473
HPA064835
MIMi137030 gene
neXtProtiNX_Q96C23
OpenTargetsiENSG00000143891
PharmGKBiPA134980075
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1604 Eukaryota
COG2017 LUCA
GeneTreeiENSGT00510000047589
HOGENOMiHOG000072798
HOVERGENiHBG051697
InParanoidiQ96C23
KOiK01785
OMAiATWLSCK
OrthoDBiEOG091G0COE
PhylomeDBiQ96C23
TreeFamiTF324207

Enzyme and pathway databases

UniPathwayi
UPA00242

BioCyciMetaCyc:HS07125-MONOMER
BRENDAi5.1.3.3 2681
SABIO-RKiQ96C23
SignaLinkiQ96C23

Miscellaneous databases

ChiTaRSiGALM human
EvolutionaryTraceiQ96C23
GeneWikiiGalactose_mutarotase
GenomeRNAii130589
PROiPR:Q96C23
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143891 Expressed in 208 organ(s), highest expression level in kidney epithelium
CleanExiHS_GALM
ExpressionAtlasiQ96C23 baseline and differential
GenevisibleiQ96C23 HS

Family and domain databases

Gene3Di2.70.98.10, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF01263 Aldose_epim, 1 hit
PIRSFiPIRSF005096 GALM, 1 hit
SUPFAMiSSF74650 SSF74650, 1 hit
PROSITEiView protein in PROSITE
PS00545 ALDOSE_1_EPIMERASE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGALM_HUMAN
AccessioniPrimary (citable) accession number: Q96C23
Secondary accession number(s): Q53RY1, Q8NIA2, V9HWA8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 10, 2005
Last sequence update: December 1, 2001
Last modified: September 12, 2018
This is version 142 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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