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GALK1 galactokinase 1 [ Homo sapiens (human) ]

Gene ID: 2584, updated on 3-Mar-2019

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

Genomic context

See GALK1 in Genome Data Viewer
Location:
17q25.1
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (75757937..75765199, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73754018..73761280, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RecQ like helicase 5 Neighboring gene SAP30 binding protein Neighboring gene ITGB4 intron CAGE-defined low expression enhancer Neighboring gene integrin subunit beta 4 Neighboring gene H3 histone family member 3B 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

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_008079.1 RefSeqGene

    Range
    5001..12263
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000154.1NP_000145.1  galactokinase

    See identical proteins and their annotated locations for NP_000145.1

    Status: REVIEWED

    Source sequence(s)
    L76927
    Consensus CDS
    CCDS11728.1
    UniProtKB/Swiss-Prot
    P51570
    UniProtKB/TrEMBL
    V9HWE7
    Related
    ENSP00000465930.1, ENST00000588479.5
    Conserved Domains (1) summary
    COG0153
    Location:11390
    GalK; Galactokinase [Carbohydrate transport and metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    75757937..75765199 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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