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Protein

Aldose 1-epimerase

Gene

GALM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • galactose catabolic process via UDP-galactose Source: GO_Central
  • galactose metabolic process Source: UniProtKB
  • glucose metabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Isomerase

Keywords - Biological processi

Carbohydrate metabolism

Enzyme and pathway databases

BioCyciMetaCyc:HS07125-MONOMER.
ZFISH:HS07125-MONOMER.
BRENDAi5.1.3.3. 2681.
SABIO-RKQ96C23.
SignaLinkiQ96C23.
UniPathwayiUPA00242.

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

HGNCiHGNC:24063. GALM.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
Complete GO annotation...

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.

PTM databases

iPTMnetiQ96C23.
PhosphoSitePlusiQ96C23.

Expressioni

Gene expression databases

BgeeiENSG00000143891.
CleanExiHS_GALM.
ExpressionAtlasiQ96C23. baseline and differential.
GenevisibleiQ96C23. HS.

Organism-specific databases

HPAiHPA035472.
HPA035473.

Interactioni

Subunit structurei

Monomer.1 Publication

Protein-protein interaction databases

BioGridi126244. 5 interactors.
IntActiQ96C23. 1 interactor.
MINTiMINT-5001489.
STRINGi9606.ENSP00000272252.

Structurei

Secondary structure

1342
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi3 – 12Combined sources10
Turni13 – 16Combined sources4
Beta strandi17 – 25Combined sources9
Beta strandi30 – 34Combined sources5
Beta strandi39 – 46Combined sources8
Beta strandi52 – 54Combined sources3
Helixi62 – 66Combined sources5
Beta strandi81 – 83Combined sources3
Helixi84 – 86Combined sources3
Beta strandi87 – 90Combined sources4
Beta strandi93 – 96Combined sources4
Beta strandi104 – 106Combined sources3
Beta strandi109 – 111Combined sources3
Helixi113 – 115Combined sources3
Beta strandi119 – 123Combined sources5
Beta strandi126 – 133Combined sources8
Helixi137 – 139Combined sources3
Beta strandi144 – 153Combined sources10
Beta strandi156 – 167Combined sources12
Beta strandi193 – 196Combined sources4
Beta strandi198 – 201Combined sources4
Helixi230 – 236Combined sources7
Beta strandi243 – 248Combined sources6
Beta strandi251 – 253Combined sources3
Beta strandi255 – 261Combined sources7
Turni263 – 265Combined sources3
Beta strandi267 – 281Combined sources15
Beta strandi287 – 291Combined sources5
Helixi293 – 295Combined sources3
Beta strandi297 – 299Combined sources3
Beta strandi304 – 310Combined sources7
Helixi314 – 316Combined sources3
Beta strandi331 – 341Combined sources11

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...

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.
OMAiSPNHPDW.
OrthoDBiEOG091G0COE.
PhylomeDBiQ96C23.
TreeFamiTF324207.

Family and domain databases

Gene3Di2.70.98.10. 1 hit.
InterProiIPR018052. Ald1_epimerase_CS.
IPR015443. Aldose_1-epimerase.
IPR008183. Aldose_1/G6P_1-epimerase.
IPR011013. Gal_mutarotase_SF_dom.
IPR014718. GH-type_carb-bd.
[Graphical view]
PfamiPF01263. Aldose_epim. 1 hit.
[Graphical view]
PIRSFiPIRSF005096. GALM. 1 hit.
SUPFAMiSSF74650. SSF74650. 1 hit.
PROSITEiPS00545. ALDOSE_1_EPIMERASE. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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

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 rs6741892dbSNPEnsembl.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

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.
MINTiMINT-5001489.
STRINGi9606.ENSP00000272252.

PTM databases

iPTMnetiQ96C23.
PhosphoSitePlusiQ96C23.

Polymorphism and mutation databases

BioMutaiGALM.
DMDMi67463772.

Proteomic databases

EPDiQ96C23.
MaxQBiQ96C23.
PaxDbiQ96C23.
PeptideAtlasiQ96C23.
PRIDEiQ96C23.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

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

Phylogenomic databases

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

Enzyme and pathway databases

UniPathwayiUPA00242.
BioCyciMetaCyc:HS07125-MONOMER.
ZFISH:HS07125-MONOMER.
BRENDAi5.1.3.3. 2681.
SABIO-RKQ96C23.
SignaLinkiQ96C23.

Miscellaneous databases

ChiTaRSiGALM. human.
EvolutionaryTraceiQ96C23.
GeneWikiiGalactose_mutarotase.
GenomeRNAii130589.
PROiQ96C23.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143891.
CleanExiHS_GALM.
ExpressionAtlasiQ96C23. baseline and differential.
GenevisibleiQ96C23. HS.

Family and domain databases

Gene3Di2.70.98.10. 1 hit.
InterProiIPR018052. Ald1_epimerase_CS.
IPR015443. Aldose_1-epimerase.
IPR008183. Aldose_1/G6P_1-epimerase.
IPR011013. Gal_mutarotase_SF_dom.
IPR014718. GH-type_carb-bd.
[Graphical view]
PfamiPF01263. Aldose_epim. 1 hit.
[Graphical view]
PIRSFiPIRSF005096. GALM. 1 hit.
SUPFAMiSSF74650. SSF74650. 1 hit.
PROSITEiPS00545. ALDOSE_1_EPIMERASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGALM_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 134 of the entry and version 1 of the sequence. [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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.