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Aliases for GLYCTK Gene

Aliases for GLYCTK Gene

  • Glycerate Kinase 2 3 5
  • EC 2.7.1.31 4 61
  • HBEBP4 3 4
  • HBeAg Binding Protein 4 3
  • HBeAg-Binding Protein 2 3
  • HBeAg-Binding Protein 4 4
  • HBeAgBP4A 3
  • HBEBP2 3

External Ids for GLYCTK Gene

Previous GeneCards Identifiers for GLYCTK Gene

  • GC03P052177
  • GC03P052280
  • GC03P052296

Summaries for GLYCTK Gene

Entrez Gene Summary for GLYCTK Gene

  • This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D-glyceric aciduria. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]

GeneCards Summary for GLYCTK Gene

GLYCTK (Glycerate Kinase) is a Protein Coding gene. Diseases associated with GLYCTK include D-Glyceric Aciduria and Kabuki Syndrome 1. Among its related pathways are Fructose metabolism and Glyoxylate and dicarboxylate metabolism. GO annotations related to this gene include glycerate kinase activity.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLYCTK Gene

Genomics for GLYCTK Gene

Regulatory Elements for GLYCTK Gene

Enhancers for GLYCTK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around GLYCTK on UCSC Golden Path with GeneCards custom track

Promoters for GLYCTK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for GLYCTK Gene

Chromosome:
3
Start:
52,287,089 bp from pter
End:
52,295,256 bp from pter
Size:
8,168 bases
Orientation:
Plus strand

Genomic View for GLYCTK Gene

Genes around GLYCTK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLYCTK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLYCTK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLYCTK Gene

Proteins for GLYCTK Gene

  • Protein details for GLYCTK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IVS8-GLCTK_HUMAN
    Recommended name:
    Glycerate kinase
    Protein Accession:
    Q8IVS8
    Secondary Accessions:
    • Q0P630
    • Q2EZ43
    • Q6Y2K6
    • Q7Z6G5
    • Q86YR8
    • Q8TED2
    • Q8WTY2

    Protein attributes for GLYCTK Gene

    Size:
    523 amino acids
    Molecular mass:
    55253 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH36862.1; Type=Frameshift; Positions=177; Evidence={ECO:0000305};

    Alternative splice isoforms for GLYCTK Gene

neXtProt entry for GLYCTK Gene

Post-translational modifications for GLYCTK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for GLYCTK Gene

Protein Domains for GLYCTK Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GLYCTK Gene

Graphical View of Domain Structure for InterPro Entry

Q8IVS8

UniProtKB/Swiss-Prot:

GLCTK_HUMAN :
  • Belongs to the glycerate kinase type-2 family.
Family:
  • Belongs to the glycerate kinase type-2 family.
genes like me logo Genes that share domains with GLYCTK: view

No data available for Gene Families for GLYCTK Gene

Function for GLYCTK Gene

Molecular function for GLYCTK Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.1 mM for D-glycerate {ECO:0000269 PubMed:20949620};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + D-glycerate = ADP + 3-phospho-D-glycerate.

Enzyme Numbers (IUBMB) for GLYCTK Gene

Gene Ontology (GO) - Molecular Function for GLYCTK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0005524 ATP binding IEA --
GO:0008887 glycerate kinase activity TAS --
genes like me logo Genes that share ontologies with GLYCTK: view
genes like me logo Genes that share phenotypes with GLYCTK: view

Human Phenotype Ontology for GLYCTK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for GLYCTK Gene

miRTarBase miRNAs that target GLYCTK

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for GLYCTK Gene

Localization for GLYCTK Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLYCTK Gene

Isoform 1: Cytoplasm.
Isoform 2: Cytoplasm. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GLYCTK Gene COMPARTMENTS Subcellular localization image for GLYCTK gene
Compartment Confidence
mitochondrion 5
chloroplast 2

Gene Ontology (GO) - Cellular Components for GLYCTK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 16753811
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GLYCTK: view

Pathways & Interactions for GLYCTK Gene

genes like me logo Genes that share pathways with GLYCTK: view

Gene Ontology (GO) - Biological Process for GLYCTK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IDA 16753811
GO:0061624 fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate TAS --
genes like me logo Genes that share ontologies with GLYCTK: view

No data available for SIGNOR curated interactions for GLYCTK Gene

Drugs & Compounds for GLYCTK Gene

(2) Drugs for GLYCTK Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
3-Phosphoglyceric acid Experimental Pharma 0

(2) Additional Compounds for GLYCTK Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Glyceric acid
  • (R)-glycerate
  • a,b-Hydroxypropionate
  • a,b-Hydroxypropionic acid
  • D-Glycerate
  • D-Glyceric acid
473-81-4
genes like me logo Genes that share compounds with GLYCTK: view

Transcripts for GLYCTK Gene

Unigene Clusters for GLYCTK Gene

Glycerate kinase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLYCTK Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8
SP1: - -
SP2: - - - - - - -
SP3: - -
SP4: - - - - - - - -
SP5: - - - - - - - -
SP6: - - - -
SP7: - -
SP8: - - - -
SP9: - - -
SP10: - -
SP11:

Relevant External Links for GLYCTK Gene

GeneLoc Exon Structure for
GLYCTK
ECgene alternative splicing isoforms for
GLYCTK

Expression for GLYCTK Gene

mRNA expression in normal human tissues for GLYCTK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GLYCTK Gene

This gene is overexpressed in Liver (x22.8).

Protein differential expression in normal tissues from HIPED for GLYCTK Gene

This gene is overexpressed in Gallbladder (46.4) and Liver (20.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GLYCTK Gene



Protein tissue co-expression partners for GLYCTK Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GLYCTK Gene:

GLYCTK

SOURCE GeneReport for Unigene cluster for GLYCTK Gene:

Hs.415312

mRNA Expression by UniProt/SwissProt for GLYCTK Gene:

Q8IVS8-GLCTK_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with GLYCTK: view

Primer Products

Orthologs for GLYCTK Gene

This gene was present in the common ancestor of animals.

Orthologs for GLYCTK Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GLYCTK 34
  • 85.66 (n)
  • 86.42 (a)
GLYCTK 35
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GLYCTK 34
  • 86.36 (n)
  • 87.76 (a)
-- 35
  • 80 (a)
OneToMany
cfa-mir-135a-1 35
  • 82 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Glyctk 34
  • 82.66 (n)
  • 84.32 (a)
Glyctk 16
Glyctk 35
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GLYCTK 34
  • 99.68 (n)
  • 99.62 (a)
ptr-mir-135a-1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Glyctk 34
  • 82.6 (n)
  • 83.56 (a)
oppossum
(Monodelphis domestica)
Mammalia GLYCTK 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLYCTK 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLYCTK 35
  • 62 (a)
OneToOne
GLYCTK 34
  • 64.9 (n)
  • 64.29 (a)
lizard
(Anolis carolinensis)
Reptilia GLYCTK 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glyctk 34
  • 58.96 (n)
  • 55.78 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.13856 34
glyctk 34
  • 57.43 (n)
  • 55.21 (a)
glyctk 35
  • 50 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007988 34
  • 54.19 (n)
  • 46.78 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9886 34
  • 47.32 (n)
  • 41.33 (a)
CG9886 35
  • 39 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C13B9.2 34
  • 45.7 (n)
  • 39.82 (a)
C13B9.2 35
  • 36 (a)
OneToOne
Species where no ortholog for GLYCTK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GLYCTK Gene

ENSEMBL:
Gene Tree for GLYCTK (if available)
TreeFam:
Gene Tree for GLYCTK (if available)

Paralogs for GLYCTK Gene

No data available for Paralogs for GLYCTK Gene

Variants for GLYCTK Gene

Sequence variations from dbSNP and Humsavar for GLYCTK Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_032285 -
rs9813489 - 52,292,735(+) GGAGA(C/T)CATGG intron-variant, nc-transcript-variant, reference, missense, utr-variant-3-prime
VAR_061205 -
rs121909448 D-glyceric aciduria (D-GA) 52,293,032(+) CTTCT(G/T)CTGCT intron-variant, nc-transcript-variant, downstream-variant-500B, reference, missense, utr-variant-3-prime
rs35335735 -- 52,291,748(+) AGAGG(G/T)GGGGG intron-variant, nc-transcript-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for GLYCTK Gene

Variant ID Type Subtype PubMed ID
esv3402579 CNV duplication 20981092
nsv470572 CNV loss 18288195
nsv519445 CNV gain+loss 19592680
nsv834694 CNV gain 17160897
nsv834695 CNV loss 17160897
nsv834696 CNV loss 17160897
nsv954859 CNV deletion 24416366

Variation tolerance for GLYCTK Gene

Residual Variation Intolerance Score: 56.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.75; 57.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GLYCTK Gene

Human Gene Mutation Database (HGMD)
GLYCTK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLYCTK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLYCTK Gene

Disorders for GLYCTK Gene

MalaCards: The human disease database

(2) MalaCards diseases for GLYCTK Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
d-glyceric aciduria
  • d-glycerate kinase deficiency
kabuki syndrome 1
  • kabuki syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GLCTK_HUMAN
  • D-glyceric aciduria (D-GA) [MIM:220120]: A rare metabolic disease characterized by chronic metabolic acidosis and a highly variable clinical phenotype. Clinical features range from an encephalopathic presentation with seizures, microcephaly, severe mental retardation and early death, to milder manifestations with only speech delay or even normal development. {ECO:0000269 PubMed:20949620}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GLYCTK

Genetic Association Database (GAD)
GLYCTK
Human Genome Epidemiology (HuGE) Navigator
GLYCTK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GLYCTK
genes like me logo Genes that share disorders with GLYCTK: view

No data available for Genatlas for GLYCTK Gene

Publications for GLYCTK Gene

  1. Isolation and characterization of the human D-glyceric acidemia related glycerate kinase gene GLYCTK1 and its alternatively splicing variant GLYCTK2. (PMID: 16753811) Guo J.-H. … Yu L. (DNA Seq. 2006) 2 3 4 22 65
  2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 65
  3. D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK). (PMID: 20949620) Sass J.O. … Walter M. (Hum. Mutat. 2010) 3 4 65
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 65
  5. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 4 65

Products for GLYCTK Gene

Sources for GLYCTK Gene

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