Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q96C23 (GALM_HUMAN)

Entry version 156 (07 Apr 2021)
Sequence version 1 (01 Dec 2001)
Previous versions | rss
Add a publicationFeedback
Protein

Galactose mutarotase

Gene

GALM

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

kcat is 12000 s(-1) with galactose as substrate (PubMed:12753898). kcat is 4900 s(-1) with glucose as substrate (PubMed:12753898).1 Publication
  1. KM=37 mM for galactose (at 20 degrees Celsius)1 Publication
  2. KM=54 mM for glucose (at 20 degrees Celsius)1 Publication

    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: hexose metabolism

    This protein is involved in the pathway hexose metabolism, which is part of Carbohydrate metabolism.1 Publication
    View 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 Publication
    View all proteins of this organism that are known to be involved in the pathway galactose metabolism and in Carbohydrate metabolism.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei107Beta-D-galactoseCombined sources1 Publication1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei176Proton donor1 Publication1
    Binding sitei243Beta-D-galactoseCombined sources1 Publication1
    Binding sitei279Beta-D-galactoseCombined sources1 Publication1
    Active sitei307Proton acceptor1 Publication1
    Binding sitei307Beta-D-galactoseCombined sources1 Publication1

    <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

    • aldose 1-epimerase activity Source: UniProtKB
    • carbohydrate binding Source: InterPro
    Complete GO annotation on QuickGO ...

    GO - Biological processi

    Complete GO annotation on QuickGO ...

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

    Molecular functionIsomerase
    Biological processCarbohydrate metabolism

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...    BioCyci    		MetaCyc:HS07125-MONOMER

    BRENDA Comprehensive Enzyme Information System

    More...    BRENDAi    		5.1.3.3, 2681

    Pathway Commons web resource for biological pathway data

    More...    PathwayCommonsi    		Q96C23

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...    SABIO-RKi    		Q96C23

    SignaLink: a signaling pathway resource with multi-layered regulatory networks

    More...    SignaLinki    		Q96C23

    UniPathway: a resource for the exploration and annotation of metabolic pathways

    More...    UniPathwayi    		UPA00214
    UPA00242

    <p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
    Recommended name:
    Galactose mutarotase2 Publications (EC:5.1.3.31 Publication)
    Alternative name(s):
    Aldose 1-epimerase1 Publication
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:GALMImported
    ORF Names:BLOCK25
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

    Organism-specific databases

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:24063, GALM

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		137030, gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_Q96C23

    Eukaryotic Pathogen, Vector and Host Database Resources

    More...    VEuPathDBi    		HostDB:ENSG00000143891.16

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

    Keywords - Cellular componenti

    Cytoplasm

    <p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

    <p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

    Galactosemia 4 (GALAC4)1 Publication
    The disease is caused by variants affecting the gene represented in this entry.
    Disease descriptionA form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC4 inheritance is autosomal recessive.
    Related information in OMIM
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08354782 – 342Missing in GALAC4; loss of protein accumulation. 1 PublicationAdd BLAST261
    Natural variantiVAR_083548142G → R in GALAC4; unknown pathological significance; decreased protein stability. 1 PublicationCorresponds to variant dbSNP:rs114440198Ensembl.1
    Natural variantiVAR_083549267R → G in GALAC4; decreased protein stability. 1 Publication1
    Natural variantiVAR_083550311 – 342Missing in GALAC4; decreased protein stability. 1 PublicationAdd BLAST32

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi107H → A: Decreased activity by 5-fold. 1 Publication1
    Mutagenesisi176H → A: Decreased activity by 300-fold. 1 Publication1
    Mutagenesisi307E → A: Loss of activity. 1 Publication1

    Keywords - Diseasei

    Disease variant

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		130589

    MalaCards human disease database

    More...    MalaCardsi    		GALM
    MIMi618881, phenotype

    Open Targets

    More...    OpenTargetsi    		ENSG00000143891

    Orphanet; a database dedicated to information on rare diseases and orphan drugs

    More...    Orphaneti    		570422, Galactose mutarotase deficiency

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA134980075

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...    Pharosi    		Q96C23, Tbio

    Genetic variation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...    BioMutai    		GALM

    Domain mapping of disease mutations (DMDM)

    More...    DMDMi    		67463772

    <p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
    <p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001974332 – 342Galactose mutarotaseAdd BLAST341

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
    Modified residuei14PhosphoserineCombined sources1
    Modified residuei124PhosphoserineBy similarity1

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...    EPDi    		Q96C23

    jPOST - Japan Proteome Standard Repository/Database

    More...    jPOSTi    		Q96C23

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...    MassIVEi    		Q96C23

    MaxQB - The MaxQuant DataBase

    More...    MaxQBi    		Q96C23

    PaxDb, a database of protein abundance averages across all three domains of life

    More...    PaxDbi    		Q96C23

    PeptideAtlas

    More...    PeptideAtlasi    		Q96C23

    PRoteomics IDEntifications database

    More...    PRIDEi    		Q96C23

    ProteomicsDB: a multi-organism proteome resource

    More...    ProteomicsDBi    		76151

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		Q96C23

    Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

    More...    PhosphoSitePlusi    		Q96C23

    <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000143891, Expressed in kidney epithelium and 221 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...    ExpressionAtlasi    		Q96C23, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		Q96C23, HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		ENSG00000143891, Tissue enhanced (adrenal)

    <p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

    <p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Monomer.

    2 Publications

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...    BioGRIDi    		126244, 6 interactors

    Protein interaction database and analysis system

    More...    IntActi    		Q96C23, 3 interactors

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000272252

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...    RNActi    		Q96C23, protein

    <p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

    Secondary structure

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

    3D structure databases

    SWISS-MODEL Repository - a database of annotated 3D protein structure models

    More...    SMRi    		Q96C23

    Database of comparative protein structure models

    More...    ModBasei    		Search...

    Protein Data Bank in Europe - Knowledge Base

    More...    PDBe-KBi    		Search...

    Miscellaneous databases

    Relative evolutionary importance of amino acids within a protein sequence

    More...    EvolutionaryTracei    		Q96C23

    <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni81 – 82Beta-D-galactose bindingCombined sources1 Publication2
    Regioni176 – 178Beta-D-galactose bindingCombined sources1 Publication3

    <p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    Belongs to the aldose epimerase family.Curated

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...    eggNOGi    		KOG1604, Eukaryota

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00510000047589

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...    HOGENOMi    		CLU_031753_2_0_1

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		Q96C23

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		ATWLSCK

    Database of Orthologous Groups

    More...    OrthoDBi    		978899at2759

    Database for complete collections of gene phylogenies

    More...    PhylomeDBi    		Q96C23

    TreeFam database of animal gene trees

    More...    TreeFami    		TF324207

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...    Gene3Di    		2.70.98.10, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...    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

    Pfam protein domain database

    More...    Pfami    		View protein in Pfam
    PF01263, Aldose_epim, 1 hit

    PIRSF; a whole-protein classification database

    More...    PIRSFi    		PIRSF005096, GALM, 1 hit

    Superfamily database of structural and functional annotation

    More...    SUPFAMi    		SSF74650, SSF74650, 1 hit

    PROSITE; a protein domain and family database

    More...    PROSITEi    		View protein in PROSITE
    PS00545, ALDOSE_1_EPIMERASE, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i611A54AE7E85813E
    GO

    <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

    There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    		Gene namesLengthAnnotation
    H7C1B5H7C1B5_HUMAN
    Galactose mutarotase
    GALM
    		218Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    H7C320H7C320_HUMAN
    Galactose mutarotase
    GALM
    		194Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    B8ZZ75B8ZZ75_HUMAN
    Galactose mutarotase
    GALM
    		194Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

    <p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_08354782 – 342Missing in GALAC4; loss of protein accumulation. 1 PublicationAdd BLAST261
    Natural variantiVAR_083548142G → R in GALAC4; unknown pathological significance; decreased protein stability. 1 PublicationCorresponds to variant dbSNP:rs114440198Ensembl.1
    Natural variantiVAR_024451190N → Y. Corresponds to variant dbSNP:rs6741892Ensembl.1
    Natural variantiVAR_083549267R → G in GALAC4; decreased protein stability. 1 Publication1
    Natural variantiVAR_083550311 – 342Missing in GALAC4; decreased protein stability. 1 PublicationAdd BLAST32

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...    EMBLi

    GenBank nucleotide sequence database

    More...    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...    DDBJi
    Links Updated
    		AY064382 AY064378 Genomic DNA Translation: AAL62475.1 Sequence problems.
    AY064385 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

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS1797.1

    NCBI Reference Sequences

    More...    RefSeqi    		NP_620156.1, NM_138801.2
    XP_011530842.1, XM_011532540.1

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000272252; ENSP00000272252; ENSG00000143891

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		130589

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:130589

    UCSC genome browser

    More...    UCSCi    		uc002rqy.4, human

    <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    		AY064382 AY064378 Genomic DNA Translation: AAL62475.1 Sequence problems.
    AY064385 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

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

    More...    PDBei

    Protein Data Bank RCSB

    More...    RCSB PDBi

    Protein Data Bank Japan

    More...    PDBji
    Links Updated
    		PDB entryMethodResolution (Å)ChainPositionsPDBsum
    1SNZX-ray2.20A/B1-342[»]
    1SO0X-ray2.30A/B/C/D1-342[»]
    SMRiQ96C23
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi126244, 6 interactors
    IntActiQ96C23, 3 interactors
    STRINGi9606.ENSP00000272252

    PTM databases

    iPTMnetiQ96C23
    PhosphoSitePlusiQ96C23

    Genetic variation databases

    BioMutaiGALM
    DMDMi67463772

    Proteomic databases

    EPDiQ96C23
    jPOSTiQ96C23
    MassIVEiQ96C23
    MaxQBiQ96C23
    PaxDbiQ96C23
    PeptideAtlasiQ96C23
    PRIDEiQ96C23
    ProteomicsDBi76151

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...    Antibodypediai    		29513, 210 antibodies

    Genome annotation databases

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

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		130589
    DisGeNETi130589

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		GALM
    HGNCiHGNC:24063, GALM
    HPAiENSG00000143891, Tissue enhanced (adrenal)
    MalaCardsiGALM
    MIMi137030, gene
    618881, phenotype
    neXtProtiNX_Q96C23
    OpenTargetsiENSG00000143891
    Orphaneti570422, Galactose mutarotase deficiency
    PharmGKBiPA134980075
    VEuPathDBiHostDB:ENSG00000143891.16

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG1604, Eukaryota
    GeneTreeiENSGT00510000047589
    HOGENOMiCLU_031753_2_0_1
    InParanoidiQ96C23
    OMAiATWLSCK
    OrthoDBi978899at2759
    PhylomeDBiQ96C23
    TreeFamiTF324207

    Enzyme and pathway databases

    UniPathwayiUPA00214
    UPA00242
    BioCyciMetaCyc:HS07125-MONOMER
    BRENDAi5.1.3.3, 2681
    PathwayCommonsiQ96C23
    SABIO-RKiQ96C23
    SignaLinkiQ96C23

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...    BioGRID-ORCSi    		130589, 5 hits in 993 CRISPR screens

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...    ChiTaRSi    		GALM, human
    EvolutionaryTraceiQ96C23

    The Gene Wiki collection of pages on human genes and proteins

    More...    GeneWikii    		Galactose_mutarotase

    Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

    More...    GenomeRNAii    		130589
    PharosiQ96C23, Tbio

    Protein Ontology

    More...    PROi    		PR:Q96C23
    RNActiQ96C23, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000143891, Expressed in kidney epithelium and 221 other tissues
    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

    ProtoNet; Automatic hierarchical classification of proteins

    More...    ProtoNeti    		Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...    MobiDBi    		Search...

    <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

    <p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGALM_HUMAN
    <p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96C23
    Secondary accession number(s): Q53RY1, Q8NIA2, V9HWA8
    <p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 10, 2005
    Last sequence update: December 1, 2001
    Last modified: April 7, 2021
    This is version 156 of the entry and version 1 of the sequence. See complete history.
    <p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

    <p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

    Keywords - Technical termi

    3D-structure, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with genetic variants
      List of human entries with genetic variants
    3. Human variants curated from literature reports
      Index of human variants curated from literature reports
    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
    UniProt is an ELIXIR core data resource
    Main funding by: National Institutes of Health

    We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

    Do not show this banner again