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UniProtKB - Q8IVS8 (GLCTK_HUMAN)
Protein
Glycerate kinase
Gene
GLYCTK
Organism
Homo sapiens (Human)
Status
Functioni
Catalytic activityi
- EC:2.7.1.312 Publications
Kineticsi
- KM=0.1 mM for D-glycerate1 Publication
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- glycerate kinase activity Source: UniProtKB
GO - Biological processi
- fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate Source: Reactome
- protein phosphorylation Source: UniProtKB
Keywordsi
Molecular function | Kinase, Transferase |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 2.7.1.31, 2681 |
PathwayCommonsi | Q8IVS8 |
Reactomei | R-HSA-70350, Fructose catabolism |
SABIO-RKi | Q8IVS8 |
SignaLinki | Q8IVS8 |
Names & Taxonomyi
Protein namesi | Recommended name: Glycerate kinase (EC:2.7.1.312 Publications)Alternative name(s): HBeAg-binding protein 4 |
Gene namesi | Name:GLYCTK Synonyms:HBEBP4 ORF Names:LP5910 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24247, GLYCTK |
MIMi | 610516, gene |
neXtProti | NX_Q8IVS8 |
VEuPathDBi | HostDB:ENSG00000168237 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Mitochondrion
- Mitochondrion 1 Publication
Cytoplasm and Cytosol
Cytosol
- cytosol Source: HPA
Golgi apparatus
- Golgi apparatus Source: HPA
Mitochondrion
- mitochondrion Source: UniProtKB-SubCell
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, MitochondrionPathology & Biotechi
Involvement in diseasei
D-glyceric aciduria (D-GA)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065909 | 493 | F → C in D-GA; the mutant protein is not expressed and has no enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs121909448EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 132158 |
MalaCardsi | GLYCTK |
MIMi | 220120, phenotype |
OpenTargetsi | ENSG00000168237 |
Orphaneti | 941, D-glyceric aciduria |
PharmGKBi | PA162389865 |
Miscellaneous databases
Pharosi | Q8IVS8, Tbio |
Genetic variation databases
BioMutai | GLYCTK |
DMDMi | 74728080 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000287192 | 1 – 523 | Glycerate kinaseAdd BLAST | 523 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 60 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
jPOSTi | Q8IVS8 |
MassIVEi | Q8IVS8 |
MaxQBi | Q8IVS8 |
PaxDbi | Q8IVS8 |
PeptideAtlasi | Q8IVS8 |
PRIDEi | Q8IVS8 |
ProteomicsDBi | 70758 [Q8IVS8-1] 70759 [Q8IVS8-2] 70760 [Q8IVS8-3] 70761 [Q8IVS8-4] 70762 [Q8IVS8-5] 70763 [Q8IVS8-6] 70764 [Q8IVS8-7] |
PTM databases
iPTMneti | Q8IVS8 |
PhosphoSitePlusi | Q8IVS8 |
Expressioni
Tissue specificityi
Widely expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000168237, Expressed in right lobe of liver and 139 other tissues |
ExpressionAtlasi | Q8IVS8, baseline and differential |
Genevisiblei | Q8IVS8, HS |
Organism-specific databases
HPAi | ENSG00000168237, Tissue enriched (liver) |
Interactioni
Binary interactionsi
Q8IVS8
Protein-protein interaction databases
BioGRIDi | 126307, 60 interactors |
IntActi | Q8IVS8, 58 interactors |
MINTi | Q8IVS8 |
STRINGi | 9606.ENSP00000389175 |
Miscellaneous databases
RNActi | Q8IVS8, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the glycerate kinase type-2 family.Curated
Phylogenomic databases
eggNOGi | KOG3935, Eukaryota |
GeneTreei | ENSGT00390000014365 |
HOGENOMi | CLU_112512_0_0_1 |
InParanoidi | Q8IVS8 |
OMAi | ICGGEPV |
OrthoDBi | 1371490at2759 |
PhylomeDBi | Q8IVS8 |
TreeFami | TF313770 |
Family and domain databases
Gene3Di | 3.40.1480.10, 1 hit 3.40.50.10180, 1 hit |
InterProi | View protein in InterPro IPR037035, GK-like_C_sf IPR038614, GK_N_sf IPR007835, MOFRL IPR025286, MOFRL_assoc_dom IPR039760, MOFRL_protein |
PANTHERi | PTHR12227, PTHR12227, 1 hit |
Pfami | View protein in Pfam PF13660, DUF4147, 1 hit PF05161, MOFRL, 1 hit |
s (7+)i Sequence
Sequence statusi: Complete.
This entry describes 7 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 7 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8IVS8-1) [UniParc]FASTAAdd to basket
Also known as: Glycerate kinase 11 Publication, GLYCTK11 Publication
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAAALQVLPR LARAPLHPLL WRGSVARLAS SMALAEQARQ LFESAVGAVL
60 70 80 90 100
PGPMLHRALS LDPGGRQLKV RDRNFQLRQN LYLVGFGKAV LGMAAAAEEL
110 120 130 140 150
LGQHLVQGVI SVPKGIRAAM ERAGKQEMLL KPHSRVQVFE GAEDNLPDRD
160 170 180 190 200
ALRAALAIQQ LAEGLTADDL LLVLISGGGS ALLPAPIPPV TLEEKQTLTR
210 220 230 240 250
LLAARGATIQ ELNTIRKALS QLKGGGLAQA AYPAQVVSLI LSDVVGDPVE
260 270 280 290 300
VIASGPTVAS SHNVQDCLHI LNRYGLRAAL PRSVKTVLSR ADSDPHGPHT
310 320 330 340 350
CGHVLNVIIG SNVLALAEAQ RQAEALGYQA VVLSAAMQGD VKSMAQFYGL
360 370 380 390 400
LAHVARTRLT PSMAGASVEE DAQLHELAAE LQIPDLQLEE ALETMAWGRG
410 420 430 440 450
PVCLLAGGEP TVQLQGSGRG GRNQELALRV GAELRRWPLG PIDVLFLSGG
460 470 480 490 500
TDGQDGPTEA AGAWVTPELA SQAAAEGLDI ATFLAHNDSH TFFCCLQGGA
510 520
HLLHTGMTGT NVMDTHLLFL RPR
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JA32 | C9JA32_HUMAN | CG9886-like, isoform CRA_f | GLYCTK hCG_42582 | 240 | Annotation score: | ||
C9J3N5 | C9J3N5_HUMAN | CG9886-like, isoform CRA_a | GLYCTK hCG_42582 | 283 | Annotation score: | ||
A0A0C4DGA0 | A0A0C4DGA0_HUMAN | CG9886-like, isoform CRA_d | GLYCTK hCG_42582 | 212 | Annotation score: |
Sequence cautioni
The sequence AAH36862 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 144 | D → Y in AAP51132 (PubMed:16753811).Curated | 1 | |
Sequence conflicti | 245 | V → E in BAB85018 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_061205 | 27 | R → C. Corresponds to variant dbSNP:rs34502608EnsemblClinVar. | 1 | |
Natural variantiVAR_032285 | 170 | L → V. Corresponds to variant dbSNP:rs35130772Ensembl. | 1 | |
Natural variantiVAR_032286 | 394 | T → I. Corresponds to variant dbSNP:rs9813489EnsemblClinVar. | 1 | |
Natural variantiVAR_065909 | 493 | F → C in D-GA; the mutant protein is not expressed and has no enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs121909448EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_025356 | 1 – 336 | Missing in isoform 6. 2 PublicationsAdd BLAST | 336 | |
Alternative sequenceiVSP_025357 | 1 – 127 | Missing in isoform 5. 1 PublicationAdd BLAST | 127 | |
Alternative sequenceiVSP_025358 | 119 – 184 | Missing in isoform 3. 1 PublicationAdd BLAST | 66 | |
Alternative sequenceiVSP_025359 | 178 – 205 | GGSAL…LLAAR → WGTPAAHRDDRYQCHGHPPL VPAASVMA in isoform 7. 1 PublicationAdd BLAST | 28 | |
Alternative sequenceiVSP_025360 | 179 – 234 | GSALL…AAYPA → EPHPVRCGGGPCGGDCQWPH RGQFPQCARLPAYPQSLRPP CSPATFCEDCAVSGRL in isoform 2. 1 PublicationAdd BLAST | 56 | |
Alternative sequenceiVSP_025361 | 206 – 523 | Missing in isoform 7. 1 PublicationAdd BLAST | 318 | |
Alternative sequenceiVSP_025362 | 235 – 523 | Missing in isoform 2. 1 PublicationAdd BLAST | 289 | |
Alternative sequenceiVSP_025363 | 340 – 367 | DVKSM…MAGAS → WGTPAAHRDDRYQCHGHPPL VPAASVMA in isoform 4. 1 PublicationAdd BLAST | 28 | |
Alternative sequenceiVSP_025364 | 340 – 367 | DVKSM…MAGAS → WGTPAAHRDDRYQCHGHPPI VPAASVMA in isoform 5. 1 PublicationAdd BLAST | 28 | |
Alternative sequenceiVSP_025365 | 368 – 523 | Missing in isoform 4 and isoform 5. 2 PublicationsAdd BLAST | 156 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY295075 mRNA Translation: AAP51132.1 AF448855 mRNA Translation: AAP41923.1 AY172690 mRNA Translation: AAO17719.1 AY189286 mRNA Translation: AAO86730.1 AK074215 mRNA Translation: BAB85018.1 AY134474 mRNA Translation: AAM95456.1 DQ352863 mRNA Translation: ABD22985.1 BC021896 mRNA Translation: AAH21896.1 BC036862 mRNA Translation: AAH36862.1 Frameshift. BC042151 mRNA Translation: AAH42151.1 |
CCDSi | CCDS2852.1 [Q8IVS8-1] CCDS46841.1 [Q8IVS8-2] |
RefSeqi | NP_001138423.1, NM_001144951.1 [Q8IVS8-2] NP_660305.2, NM_145262.3 [Q8IVS8-1] |
Genome annotation databases
Ensembli | ENST00000305690; ENSP00000301965; ENSG00000168237 [Q8IVS8-2] ENST00000436784; ENSP00000389175; ENSG00000168237 ENST00000473032; ENSP00000418951; ENSG00000168237 [Q8IVS8-7] ENST00000477382; ENSP00000419008; ENSG00000168237 [Q8IVS8-2] |
GeneIDi | 132158 |
KEGGi | hsa:132158 |
MANE-Selecti | ENST00000436784.7; ENSP00000389175.2; NM_145262.4; NP_660305.2 |
UCSCi | uc003ddo.4, human [Q8IVS8-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY295075 mRNA Translation: AAP51132.1 AF448855 mRNA Translation: AAP41923.1 AY172690 mRNA Translation: AAO17719.1 AY189286 mRNA Translation: AAO86730.1 AK074215 mRNA Translation: BAB85018.1 AY134474 mRNA Translation: AAM95456.1 DQ352863 mRNA Translation: ABD22985.1 BC021896 mRNA Translation: AAH21896.1 BC036862 mRNA Translation: AAH36862.1 Frameshift. BC042151 mRNA Translation: AAH42151.1 |
CCDSi | CCDS2852.1 [Q8IVS8-1] CCDS46841.1 [Q8IVS8-2] |
RefSeqi | NP_001138423.1, NM_001144951.1 [Q8IVS8-2] NP_660305.2, NM_145262.3 [Q8IVS8-1] |
3D structure databases
SMRi | Q8IVS8 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 126307, 60 interactors |
IntActi | Q8IVS8, 58 interactors |
MINTi | Q8IVS8 |
STRINGi | 9606.ENSP00000389175 |
PTM databases
iPTMneti | Q8IVS8 |
PhosphoSitePlusi | Q8IVS8 |
Genetic variation databases
BioMutai | GLYCTK |
DMDMi | 74728080 |
Proteomic databases
jPOSTi | Q8IVS8 |
MassIVEi | Q8IVS8 |
MaxQBi | Q8IVS8 |
PaxDbi | Q8IVS8 |
PeptideAtlasi | Q8IVS8 |
PRIDEi | Q8IVS8 |
ProteomicsDBi | 70758 [Q8IVS8-1] 70759 [Q8IVS8-2] 70760 [Q8IVS8-3] 70761 [Q8IVS8-4] 70762 [Q8IVS8-5] 70763 [Q8IVS8-6] 70764 [Q8IVS8-7] |
Protocols and materials databases
Antibodypediai | 1847, 273 antibodies from 30 providers |
DNASUi | 132158 |
Genome annotation databases
Ensembli | ENST00000305690; ENSP00000301965; ENSG00000168237 [Q8IVS8-2] ENST00000436784; ENSP00000389175; ENSG00000168237 ENST00000473032; ENSP00000418951; ENSG00000168237 [Q8IVS8-7] ENST00000477382; ENSP00000419008; ENSG00000168237 [Q8IVS8-2] |
GeneIDi | 132158 |
KEGGi | hsa:132158 |
MANE-Selecti | ENST00000436784.7; ENSP00000389175.2; NM_145262.4; NP_660305.2 |
UCSCi | uc003ddo.4, human [Q8IVS8-1] |
Organism-specific databases
CTDi | 132158 |
DisGeNETi | 132158 |
GeneCardsi | GLYCTK |
HGNCi | HGNC:24247, GLYCTK |
HPAi | ENSG00000168237, Tissue enriched (liver) |
MalaCardsi | GLYCTK |
MIMi | 220120, phenotype 610516, gene |
neXtProti | NX_Q8IVS8 |
OpenTargetsi | ENSG00000168237 |
Orphaneti | 941, D-glyceric aciduria |
PharmGKBi | PA162389865 |
VEuPathDBi | HostDB:ENSG00000168237 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3935, Eukaryota |
GeneTreei | ENSGT00390000014365 |
HOGENOMi | CLU_112512_0_0_1 |
InParanoidi | Q8IVS8 |
OMAi | ICGGEPV |
OrthoDBi | 1371490at2759 |
PhylomeDBi | Q8IVS8 |
TreeFami | TF313770 |
Enzyme and pathway databases
BRENDAi | 2.7.1.31, 2681 |
PathwayCommonsi | Q8IVS8 |
Reactomei | R-HSA-70350, Fructose catabolism |
SABIO-RKi | Q8IVS8 |
SignaLinki | Q8IVS8 |
Miscellaneous databases
BioGRID-ORCSi | 132158, 7 hits in 1042 CRISPR screens |
ChiTaRSi | GLYCTK, human |
GenomeRNAii | 132158 |
Pharosi | Q8IVS8, Tbio |
PROi | PR:Q8IVS8 |
RNActi | Q8IVS8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000168237, Expressed in right lobe of liver and 139 other tissues |
ExpressionAtlasi | Q8IVS8, baseline and differential |
Genevisiblei | Q8IVS8, HS |
Family and domain databases
Gene3Di | 3.40.1480.10, 1 hit 3.40.50.10180, 1 hit |
InterProi | View protein in InterPro IPR037035, GK-like_C_sf IPR038614, GK_N_sf IPR007835, MOFRL IPR025286, MOFRL_assoc_dom IPR039760, MOFRL_protein |
PANTHERi | PTHR12227, PTHR12227, 1 hit |
Pfami | View protein in Pfam PF13660, DUF4147, 1 hit PF05161, MOFRL, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | GLCTK_HUMAN | |
Accessioni | Q8IVS8Primary (citable) accession number: Q8IVS8 Secondary accession number(s): Q0P630 Q8WTY2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 15, 2007 |
Last sequence update: | March 1, 2003 | |
Last modified: | February 23, 2022 | |
This is version 149 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families