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UniProtKB - Q96C23 (GALM_HUMAN)

Entry version 160 (25 May 2022)
Sequence version 1 (01 Dec 2001)
Previous versions | rss
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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 sec(-1) with galactose as substrate (PubMed:12753898). kcat is 4900 sec(-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

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

<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 222 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 gland, kidney)

<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, 20 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

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q96C23

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:2 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:2 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:2 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		ENST00000272252.10; ENSP00000272252.5; ENSG00000143891.17

Database of genes from NCBI RefSeq genomes

More...GeneIDi		130589

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:130589

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000272252.10; ENSP00000272252.5; NM_138801.3; NP_620156.1

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[»]
AlphaFoldDBiQ96C23
SMRiQ96C23
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi126244, 20 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, 217 antibodies from 26 providers

The DNASU plasmid repository

More...DNASUi		130589

Genome annotation databases

EnsembliENST00000272252.10; ENSP00000272252.5; ENSG00000143891.17
GeneIDi130589
KEGGihsa:130589
MANE-SelectiENST00000272252.10; ENSP00000272252.5; NM_138801.3; NP_620156.1
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 gland, kidney)
MalaCardsiGALM
MIMi137030, gene
618881, phenotype
neXtProtiNX_Q96C23
OpenTargetsiENSG00000143891
Orphaneti570422, Galactose mutarotase deficiency
PharmGKBiPA134980075
VEuPathDBiHostDB:ENSG00000143891

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
BRENDAi5.1.3.3, 2681
PathwayCommonsiQ96C23
SABIO-RKiQ96C23
SignaLinkiQ96C23

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		130589, 12 hits in 1078 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 222 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

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: May 25, 2022
This is version 160 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
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