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Protein

Galactokinase

Gene

GALK1

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

Major enzyme for galactose metabolism.

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

This protein is involved in the pathway galactose metabolism, which is part of Carbohydrate metabolism.
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 describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei37Transition state stabilizerCurated1
<p>This subsection of the ‘Function’ 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 sitei186Proton acceptorBy similarity1
<p>This subsection of the ‘Function’ 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 sitei236Substrate1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi134 – 144ATPAdd BLAST11

<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

  • ATP binding Source: UniProtKB
  • galactokinase activity Source: UniProtKB
  • galactose binding Source: UniProtKB

GO - Biological processi

  • galactitol metabolic process Source: Ensembl
  • galactose catabolic process Source: Reactome
  • galactose catabolic process via UDP-galactose Source: GO_Central
  • galactose metabolic process Source: UniProtKB
  • glycolytic process from galactose Source: Ensembl

<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 functionKinase, Transferase
Biological processCarbohydrate metabolism, Galactose metabolism
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS03112-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.7.1.6 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5609976 Defective GALK1 can cause Galactosemia II (GALCT2)
R-HSA-70370 Galactose catabolism

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P51570

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

More...
UniPathwayi
UPA00214

<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_and_taxonomy_section">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:
Galactokinase (EC:2.7.1.6)
Alternative name(s):
Galactose kinase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:GALK1
Synonyms:GALK
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000108479.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4118 GALK1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604313 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P51570

<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

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

<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 II (GALCT2)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive deficiency characterized by congenital cataracts during infancy and presenile cataracts in the adult population. The cataracts are secondary to accumulation of galactitol in the lenses.
See also OMIM:230200
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_00851428P → T in GALCT2; founder Romani mutation. 3 PublicationsCorresponds to variant dbSNP:rs104894572EnsemblClinVar.1
Natural variantiVAR_00254732V → M in GALCT2. 3 PublicationsCorresponds to variant dbSNP:rs104894576EnsemblClinVar.1
Natural variantiVAR_02348636G → R in GALCT2. 2 Publications1
Natural variantiVAR_02348744H → Y in GALCT2. 2 Publications1
Natural variantiVAR_02348868R → C in GALCT2. 2 PublicationsCorresponds to variant dbSNP:rs1365349586Ensembl.1
Natural variantiVAR_015746198A → V in GALCT2; mild deficiency; Osaka. 2 PublicationsCorresponds to variant dbSNP:rs80084721EnsemblClinVar.1
Natural variantiVAR_023490239R → Q in GALCT2. 1 PublicationCorresponds to variant dbSNP:rs575139300EnsemblClinVar.1
Natural variantiVAR_023492288T → M in GALCT2. 2 PublicationsCorresponds to variant dbSNP:rs759284637EnsemblClinVar.1
Natural variantiVAR_023494346G → S in GALCT2. 2 PublicationsCorresponds to variant dbSNP:rs375690568Ensembl.1
Natural variantiVAR_023495349G → S in GALCT2. 2 PublicationsCorresponds to variant dbSNP:rs754967473EnsemblClinVar.1
Natural variantiVAR_023496384A → P in GALCT2. 2 PublicationsCorresponds to variant dbSNP:rs1184406839Ensembl.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
2584

MalaCards human disease database

More...
MalaCardsi
GALK1
MIMi230200 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000108479

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

More...
Orphaneti
79237 Galactokinase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28533

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1293257

Drug and drug target database

More...
DrugBanki
DB04395 Phosphoaminophosphonic Acid-Adenylate Ester

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GALK1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1730187

<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 ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001846451 – 392GalactokinaseAdd BLAST392

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 residuei230PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P51570

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P51570

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

More...
PaxDbi
P51570

PeptideAtlas

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PeptideAtlasi
P51570

PRoteomics IDEntifications database

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PRIDEi
P51570

ProteomicsDB human proteome resource

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ProteomicsDBi
56333

2D gel databases

USC-OGP 2-DE database

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OGPi
P51570

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
IPI00019383

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P51570

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

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PhosphoSitePlusi
P51570

<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
ENSG00000108479 Expressed in 105 organ(s), highest expression level in right lobe of liver

CleanEx database of gene expression profiles

More...
CleanExi
HS_GALK1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P51570 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P51570 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA007094
HPA016960

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108857, 23 interactors

Protein interaction database and analysis system

More...
IntActi
P51570, 18 interactors

Molecular INTeraction database

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MINTi
P51570

STRING: functional protein association networks

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STRINGi
9606.ENSP00000225614

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P51570

<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

1392
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WUUX-ray2.50A/B/C/D2-392[»]
1YH7model-A1-392[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P51570

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

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SMRi
P51570

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P51570

<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>Regioni43 – 46Substrate binding4
Regioni183 – 186Substrate binding4

<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 GHMP kinase family. GalK subfamily.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0631 Eukaryota
COG0153 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063433

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000241100

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG051695

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P51570

KEGG Orthology (KO)

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KOi
K00849

Identification of Orthologs from Complete Genome Data

More...
OMAi
THQDYKG

Database of Orthologous Groups

More...
OrthoDBi
860024at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P51570

TreeFam database of animal gene trees

More...
TreeFami
TF354326

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.230.10, 1 hit
3.30.70.890, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000705 Galactokinase
IPR019741 Galactokinase_CS
IPR019539 GalKase_gal-bd
IPR013750 GHMP_kinase_C_dom
IPR036554 GHMP_kinase_C_sf
IPR006204 GHMP_kinase_N_dom
IPR006203 GHMP_knse_ATP-bd_CS
IPR006206 Mevalonate/galactokinase
IPR020568 Ribosomal_S5_D2-typ_fold
IPR014721 Ribosomal_S5_D2-typ_fold_subgr

The PANTHER Classification System

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PANTHERi
PTHR10457:SF6 PTHR10457:SF6, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10509 GalKase_gal_bdg, 1 hit
PF08544 GHMP_kinases_C, 1 hit
PF00288 GHMP_kinases_N, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF000530 Galactokinase, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00473 GALCTOKINASE

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF54211 SSF54211, 1 hit
SSF55060 SSF55060, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00131 gal_kin, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00106 GALACTOKINASE, 1 hit
PS00627 GHMP_KINASES_ATP, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P51570-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAALRQPQVA ELLAEARRAF REEFGAEPEL AVSAPGRVNL IGEHTDYNQG
60 70 80 90 100
LVLPMALELM TVLVGSPRKD GLVSLLTTSE GADEPQRLQF PLPTAQRSLE
110 120 130 140 150
PGTPRWANYV KGVIQYYPAA PLPGFSAVVV SSVPLGGGLS SSASLEVATY
160 170 180 190 200
TFLQQLCPDS GTIAARAQVC QQAEHSFAGM PCGIMDQFIS LMGQKGHALL
210 220 230 240 250
IDCRSLETSL VPLSDPKLAV LITNSNVRHS LASSEYPVRR RQCEEVARAL
260 270 280 290 300
GKESLREVQL EELEAARDLV SKEGFRRARH VVGEIRRTAQ AAAALRRGDY
310 320 330 340 350
RAFGRLMVES HRSLRDDYEV SCPELDQLVE AALAVPGVYG SRMTGGGFGG
360 370 380 390
CTVTLLEASA APHAMRHIQE HYGGTATFYL SQAADGAKVL CL
Length:392
Mass (Da):42,272
Last modified:October 1, 1996 - 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:i8D7CFF8FDB0E4718
GO
Isoform 2 (identifier: P51570-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MCAPPRGAPPEHPAPTGLCRSSCAELQARVM

Note: No experimental confirmation available.
Show »
Length:422
Mass (Da):45,358
Checksum:i4ACD28D6352F019C
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
K7ERJ9K7ERJ9_HUMAN
Galactokinase
GALK1
120Annotation 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>
K7ERN9K7ERN9_HUMAN
Galactokinase
GALK1
91Annotation 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>
K7EII7K7EII7_HUMAN
Galactokinase
GALK1
184Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00851428P → T in GALCT2; founder Romani mutation. 3 PublicationsCorresponds to variant dbSNP:rs104894572EnsemblClinVar.1
Natural variantiVAR_00254732V → M in GALCT2. 3 PublicationsCorresponds to variant dbSNP:rs104894576EnsemblClinVar.1
Natural variantiVAR_02348636G → R in GALCT2. 2 Publications1
Natural variantiVAR_02348744H → Y in GALCT2. 2 Publications1
Natural variantiVAR_02348868R → C in GALCT2. 2 PublicationsCorresponds to variant dbSNP:rs1365349586Ensembl.1
Natural variantiVAR_023489184I → M1 PublicationCorresponds to variant dbSNP:rs773416476Ensembl.1
Natural variantiVAR_015746198A → V in GALCT2; mild deficiency; Osaka. 2 PublicationsCorresponds to variant dbSNP:rs80084721EnsemblClinVar.1
Natural variantiVAR_023490239R → Q in GALCT2. 1 PublicationCorresponds to variant dbSNP:rs575139300EnsemblClinVar.1
Natural variantiVAR_023491274G → D1 PublicationCorresponds to variant dbSNP:rs959842362EnsemblClinVar.1
Natural variantiVAR_023492288T → M in GALCT2. 2 PublicationsCorresponds to variant dbSNP:rs759284637EnsemblClinVar.1
Natural variantiVAR_023493338V → A1 Publication1
Natural variantiVAR_023494346G → S in GALCT2. 2 PublicationsCorresponds to variant dbSNP:rs375690568Ensembl.1
Natural variantiVAR_023495349G → S in GALCT2. 2 PublicationsCorresponds to variant dbSNP:rs754967473EnsemblClinVar.1
Natural variantiVAR_023496384A → P in GALCT2. 2 PublicationsCorresponds to variant dbSNP:rs1184406839Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0550791M → MCAPPRGAPPEHPAPTGLCR SSCAELQARVM in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U26401 mRNA Translation: AAA96147.1
L76927 Genomic DNA Translation: AAB51607.1
AK303832 mRNA Translation: BAG64778.1
AK314890 mRNA Translation: BAG37404.1
BT007005 mRNA Translation: AAP35651.1
AC087749 Genomic DNA No translation available.
CH471099 Genomic DNA Translation: EAW89316.1
BC001166 mRNA Translation: AAH01166.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS11728.1 [P51570-1]

NCBI Reference Sequences

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RefSeqi
NP_000145.1, NM_000154.1 [P51570-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.407966

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000225614; ENSP00000225614; ENSG00000108479 [P51570-1]
ENST00000588479; ENSP00000465930; ENSG00000108479 [P51570-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2584

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2584

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Galactosemia Proteins Database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U26401 mRNA Translation: AAA96147.1
L76927 Genomic DNA Translation: AAB51607.1
AK303832 mRNA Translation: BAG64778.1
AK314890 mRNA Translation: BAG37404.1
BT007005 mRNA Translation: AAP35651.1
AC087749 Genomic DNA No translation available.
CH471099 Genomic DNA Translation: EAW89316.1
BC001166 mRNA Translation: AAH01166.1
CCDSiCCDS11728.1 [P51570-1]
RefSeqiNP_000145.1, NM_000154.1 [P51570-1]
UniGeneiHs.407966

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WUUX-ray2.50A/B/C/D2-392[»]
1YH7model-A1-392[»]
ProteinModelPortaliP51570
SMRiP51570
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108857, 23 interactors
IntActiP51570, 18 interactors
MINTiP51570
STRINGi9606.ENSP00000225614

Chemistry databases

BindingDBiP51570
ChEMBLiCHEMBL1293257
DrugBankiDB04395 Phosphoaminophosphonic Acid-Adenylate Ester

PTM databases

iPTMnetiP51570
PhosphoSitePlusiP51570

Polymorphism and mutation databases

BioMutaiGALK1
DMDMi1730187

2D gel databases

OGPiP51570
REPRODUCTION-2DPAGEiIPI00019383

Proteomic databases

EPDiP51570
jPOSTiP51570
PaxDbiP51570
PeptideAtlasiP51570
PRIDEiP51570
ProteomicsDBi56333

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2584
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000225614; ENSP00000225614; ENSG00000108479 [P51570-1]
ENST00000588479; ENSP00000465930; ENSG00000108479 [P51570-1]
GeneIDi2584
KEGGihsa:2584

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2584
DisGeNETi2584
EuPathDBiHostDB:ENSG00000108479.11

GeneCards: human genes, protein and diseases

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GeneCardsi
GALK1
HGNCiHGNC:4118 GALK1
HPAiHPA007094
HPA016960
MalaCardsiGALK1
MIMi230200 phenotype
604313 gene
neXtProtiNX_P51570
OpenTargetsiENSG00000108479
Orphaneti79237 Galactokinase deficiency
PharmGKBiPA28533

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0631 Eukaryota
COG0153 LUCA
GeneTreeiENSGT00530000063433
HOGENOMiHOG000241100
HOVERGENiHBG051695
InParanoidiP51570
KOiK00849
OMAiTHQDYKG
OrthoDBi860024at2759
PhylomeDBiP51570
TreeFamiTF354326

Enzyme and pathway databases

UniPathwayi
UPA00214

BioCyciMetaCyc:HS03112-MONOMER
BRENDAi2.7.1.6 2681
ReactomeiR-HSA-5609976 Defective GALK1 can cause Galactosemia II (GALCT2)
R-HSA-70370 Galactose catabolism
SABIO-RKiP51570

Miscellaneous databases

EvolutionaryTraceiP51570

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

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GenomeRNAii
2584

Protein Ontology

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PROi
PR:P51570

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000108479 Expressed in 105 organ(s), highest expression level in right lobe of liver
CleanExiHS_GALK1
ExpressionAtlasiP51570 baseline and differential
GenevisibleiP51570 HS

Family and domain databases

Gene3Di3.30.230.10, 1 hit
3.30.70.890, 1 hit
InterProiView protein in InterPro
IPR000705 Galactokinase
IPR019741 Galactokinase_CS
IPR019539 GalKase_gal-bd
IPR013750 GHMP_kinase_C_dom
IPR036554 GHMP_kinase_C_sf
IPR006204 GHMP_kinase_N_dom
IPR006203 GHMP_knse_ATP-bd_CS
IPR006206 Mevalonate/galactokinase
IPR020568 Ribosomal_S5_D2-typ_fold
IPR014721 Ribosomal_S5_D2-typ_fold_subgr
PANTHERiPTHR10457:SF6 PTHR10457:SF6, 1 hit
PfamiView protein in Pfam
PF10509 GalKase_gal_bdg, 1 hit
PF08544 GHMP_kinases_C, 1 hit
PF00288 GHMP_kinases_N, 1 hit
PIRSFiPIRSF000530 Galactokinase, 1 hit
PRINTSiPR00473 GALCTOKINASE
SUPFAMiSSF54211 SSF54211, 1 hit
SSF55060 SSF55060, 1 hit
TIGRFAMsiTIGR00131 gal_kin, 1 hit
PROSITEiView protein in PROSITE
PS00106 GALACTOKINASE, 1 hit
PS00627 GHMP_KINASES_ATP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiGALK1_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: P51570
Secondary accession number(s): B2RC07, B4E1G6
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: January 16, 2019
This is version 189 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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