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GALK1 galactokinase 1 [ Homo sapiens (human) ]

Gene ID: 2584, updated on 8-Jul-2021

Summary

Official Symbol
GALK1provided by HGNC
Official Full Name
galactokinase 1provided by HGNC
Primary source
HGNC:HGNC:4118
See related
Ensembl:ENSG00000108479 MIM:604313
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GK1; GALK; HEL-S-19
Summary
Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 15.6), liver (RPKM 14.6) and 25 other tissues See more
Orthologs
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Genomic context

See GALK1 in Genome Data Viewer
Location:
17q25.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (75751469..75765192, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73747550..73761273, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SAP30 binding protein Neighboring gene ITGB4 intron CAGE-defined low expression enhancer Neighboring gene integrin subunit beta 4 Neighboring gene H3.3 histone B Neighboring gene microRNA 4738

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables galactokinase activity EXP
Inferred from Experiment
more info
PubMed 
enables galactokinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables galactokinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables galactokinase activity TAS
Traceable Author Statement
more info
 
enables galactose binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in carbohydrate phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in galactitol metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in galactose catabolic process TAS
Traceable Author Statement
more info
 
involved_in galactose metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in galactose metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in glycolytic process from galactose IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in membrane HDA PubMed 
NOT located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
galactokinase
Names
epididymis secretory protein Li 19
galactose kinase
NP_000145.1
NP_001368914.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008079.2 RefSeqGene

    Range
    5008..12306
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1430

mRNA and Protein(s)

  1. NM_000154.2NP_000145.1  galactokinase

    See identical proteins and their annotated locations for NP_000145.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC087749
    Consensus CDS
    CCDS11728.1
    UniProtKB/Swiss-Prot
    P51570
    UniProtKB/TrEMBL
    V9HWE7
    Related
    ENSP00000465930.1, ENST00000588479.6
    Conserved Domains (1) summary
    COG0153
    Location:11390
    GalK; Galactokinase [Carbohydrate transport and metabolism]
  2. NM_001381985.1NP_001368914.1  galactokinase

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC087749, AK303832
    Related
    ENSP00000225614.1, ENST00000225614.6
    Conserved Domains (1) summary
    COG0153
    Location:11390
    GalK; Galactokinase [Carbohydrate transport and metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    75751469..75765192 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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