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P50053

- KHK_HUMAN

UniProt

P50053 - KHK_HUMAN

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Protein
Ketohexokinase
Gene
KHK
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Catalytic activityi

ATP + D-fructose = ADP + D-fructose 1-phosphate.

Enzyme regulationi

Requires potassium. Inhibition by ADP.

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei15 – 151D-fructose
Binding sitei41 – 411D-fructose; via amide nitrogen
Binding sitei42 – 421D-fructose
Binding sitei45 – 451D-fructose
Binding sitei108 – 1081ATP
Binding sitei258 – 2581D-fructose

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi255 – 2584ATP

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. ketohexokinase activity Source: Reactome

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. carbohydrate phosphorylation Source: GOC
  3. fructose catabolic process Source: Reactome
  4. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Transferase

Keywords - Biological processi

Carbohydrate metabolism

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS06437-MONOMER.
BRENDAi2.7.1.3. 2681.
ReactomeiREACT_1571. Fructose catabolism.
SABIO-RKP50053.
UniPathwayiUPA00202.

Names & Taxonomyi

Protein namesi
Recommended name:
Ketohexokinase (EC:2.7.1.3)
Alternative name(s):
Hepatic fructokinase
Gene namesi
Name:KHK
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:6315. KHK.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: LIFEdb
  2. cytosol Source: Reactome
  3. extracellular vesicular exosome Source: UniProt
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Fructosuria (FRUCT) [MIM:229800]: Benign defect of intermediary metabolism.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti40 – 401G → R in FRUCT. 1 Publication
VAR_006072
Natural varianti43 – 431A → T in FRUCT. 1 Publication
VAR_006073

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi229800. phenotype.
Orphaneti2056. Essential fructosuria.
PharmGKBiPA30095.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 298298Ketohexokinase
PRO_0000080088Add
BLAST

Proteomic databases

MaxQBiP50053.
PaxDbiP50053.
PRIDEiP50053.

2D gel databases

REPRODUCTION-2DPAGEIPI00029488.

PTM databases

PhosphoSiteiP50053.

Expressioni

Tissue specificityi

Most abundant in liver, kidney, gut, spleen and pancreas. Low levels also found in adrenal, muscle, brain and eye.

Gene expression databases

ArrayExpressiP50053.
BgeeiP50053.
CleanExiHS_KHK.
GenevestigatoriP50053.

Organism-specific databases

HPAiHPA007040.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi109996. 12 interactions.
STRINGi9606.ENSP00000260598.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi5 – 106
Beta strandi13 – 2210
Beta strandi29 – 313
Beta strandi33 – 419
Helixi42 – 5312
Beta strandi57 – 637
Helixi67 – 7812
Beta strandi86 – 883
Beta strandi90 – 923
Beta strandi96 – 1027
Turni103 – 1053
Beta strandi108 – 1136
Helixi122 – 1265
Helixi130 – 1323
Beta strandi133 – 1397
Helixi143 – 15715
Helixi162 – 1643
Beta strandi167 – 1726
Helixi177 – 1848
Beta strandi185 – 1917
Helixi193 – 1986
Helixi204 – 2118
Helixi212 – 2143
Beta strandi220 – 2245
Helixi226 – 2283
Beta strandi230 – 2334
Beta strandi239 – 2424
Helixi256 – 26914
Helixi274 – 28916
Beta strandi291 – 2944
Helixi295 – 2973

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2HLZX-ray1.85A/B/C/D5-298[»]
2HQQX-ray1.86A1-298[»]
2HW1X-ray2.10A1-298[»]
3B3LX-ray2.90A/B/C/D1-298[»]
3NBVX-ray2.30A/B5-298[»]
3NBWX-ray2.34A/B5-298[»]
3NC2X-ray2.50A/B5-298[»]
3NC9X-ray2.40A/B5-298[»]
3NCAX-ray2.60A/B5-298[»]
3Q92X-ray2.80A/B5-298[»]
3QA2X-ray2.52A/B5-298[»]
3QAIX-ray2.70A/B5-298[»]
3RO4X-ray2.60A/B5-298[»]
ProteinModelPortaliP50053.
SMRiP50053. Positions 5-298.

Miscellaneous databases

EvolutionaryTraceiP50053.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0524.
HOGENOMiHOG000212926.
HOVERGENiHBG003335.
InParanoidiP50053.
KOiK00846.
OMAiHVADFLV.
OrthoDBiEOG7K6PV6.
PhylomeDBiP50053.
TreeFamiTF323942.

Family and domain databases

Gene3Di3.40.1190.20. 1 hit.
InterProiIPR011611. PfkB_dom.
IPR029056. Ribokinase-like.
[Graphical view]
PfamiPF00294. PfkB. 1 hit.
[Graphical view]
SUPFAMiSSF53613. SSF53613. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform A (identifier: P50053-1) [UniParc]FASTAAdd to Basket

Also known as: Central, hepatic/renal/intestinal

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

MEEKQILCVG LVVLDVISLV DKYPKEDSEI RCLSQRWQRG GNASNSCTVL    50
SLLGAPCAFM GSMAPGHVAD FVLDDLRRYS VDLRYTVFQT TGSVPIATVI 100
INEASGSRTI LYYDRSLPDV SATDFEKVDL TQFKWIHIEG RNASEQVKML 150
QRIDAHNTRQ PPEQKIRVSV EVEKPREELF QLFGYGDVVF VSKDVAKHLG 200
FQSAEEALRG LYGRVRKGAV LVCAWAEEGA DALGPDGKLL HSDAFPPPRV 250
VDTLGAGDTF NASVIFSLSQ GRSVQEALRF GCQVAGKKCG LQGFDGIV 298
Length:298
Mass (Da):32,730
Last modified:October 1, 1996 - v1
Checksum:i1BA47BDC60C1B89F
GO
Isoform C (identifier: P50053-2) [UniParc]FASTAAdd to Basket

Also known as: Peripheral

The sequence of this isoform differs from the canonical sequence as follows:
     72-115: VLDDLRRYSV...GSRTILYYDR → LVADFRRRGV...GNRTIVLHDT

Note: More widely distributed but with a low expression level.

Show »
Length:298
Mass (Da):32,523
Checksum:iBE77FC325CAC5721
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti40 – 401G → R in FRUCT. 1 Publication
VAR_006072
Natural varianti43 – 431A → T in FRUCT. 1 Publication
VAR_006073
Natural varianti49 – 491V → I.1 Publication
Corresponds to variant rs2304681 [ dbSNP | Ensembl ].
VAR_006074
Natural varianti159 – 1591R → G Either a polymorphism or a cloning artifact.
VAR_006075

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei72 – 11544VLDDL…LYYDR → LVADFRRRGVDVSQVAWQSK GDTPSSCCIINNSNGNRTIV LHDT in isoform C.
VSP_004669Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X78678 mRNA. Translation: CAA55347.1.
X78677 mRNA. Translation: CAA55346.1.
CR456801 mRNA. Translation: CAG33082.1.
AC013403 Genomic DNA. Translation: AAX93167.1.
CH471053 Genomic DNA. Translation: EAX00643.1.
BC006233 mRNA. Translation: AAH06233.1.
Y09336 Genomic DNA. Translation: CAA70516.1.
Y09341 Genomic DNA. Translation: CAA70522.1.
Y09341 Genomic DNA. Translation: CAA70523.1.
Y09340 Genomic DNA. Translation: CAA70521.1.
AJ005168 Genomic DNA. Translation: CAA06409.1.
CCDSiCCDS1734.1. [P50053-1]
CCDS1735.1. [P50053-2]
RefSeqiNP_000212.1. NM_000221.2. [P50053-1]
NP_006479.1. NM_006488.2. [P50053-2]
UniGeneiHs.567297.

Genome annotation databases

EnsembliENST00000260598; ENSP00000260598; ENSG00000138030. [P50053-2]
ENST00000260599; ENSP00000260599; ENSG00000138030. [P50053-1]
GeneIDi3795.
KEGGihsa:3795.
UCSCiuc002ril.2. human. [P50053-1]
uc002rim.2. human. [P50053-2]

Polymorphism databases

DMDMi1730044.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X78678 mRNA. Translation: CAA55347.1 .
X78677 mRNA. Translation: CAA55346.1 .
CR456801 mRNA. Translation: CAG33082.1 .
AC013403 Genomic DNA. Translation: AAX93167.1 .
CH471053 Genomic DNA. Translation: EAX00643.1 .
BC006233 mRNA. Translation: AAH06233.1 .
Y09336 Genomic DNA. Translation: CAA70516.1 .
Y09341 Genomic DNA. Translation: CAA70522.1 .
Y09341 Genomic DNA. Translation: CAA70523.1 .
Y09340 Genomic DNA. Translation: CAA70521.1 .
AJ005168 Genomic DNA. Translation: CAA06409.1 .
CCDSi CCDS1734.1. [P50053-1 ]
CCDS1735.1. [P50053-2 ]
RefSeqi NP_000212.1. NM_000221.2. [P50053-1 ]
NP_006479.1. NM_006488.2. [P50053-2 ]
UniGenei Hs.567297.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2HLZ X-ray 1.85 A/B/C/D 5-298 [» ]
2HQQ X-ray 1.86 A 1-298 [» ]
2HW1 X-ray 2.10 A 1-298 [» ]
3B3L X-ray 2.90 A/B/C/D 1-298 [» ]
3NBV X-ray 2.30 A/B 5-298 [» ]
3NBW X-ray 2.34 A/B 5-298 [» ]
3NC2 X-ray 2.50 A/B 5-298 [» ]
3NC9 X-ray 2.40 A/B 5-298 [» ]
3NCA X-ray 2.60 A/B 5-298 [» ]
3Q92 X-ray 2.80 A/B 5-298 [» ]
3QA2 X-ray 2.52 A/B 5-298 [» ]
3QAI X-ray 2.70 A/B 5-298 [» ]
3RO4 X-ray 2.60 A/B 5-298 [» ]
ProteinModelPortali P50053.
SMRi P50053. Positions 5-298.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109996. 12 interactions.
STRINGi 9606.ENSP00000260598.

Chemistry

BindingDBi P50053.
ChEMBLi CHEMBL1275212.

PTM databases

PhosphoSitei P50053.

Polymorphism databases

DMDMi 1730044.

2D gel databases

REPRODUCTION-2DPAGE IPI00029488.

Proteomic databases

MaxQBi P50053.
PaxDbi P50053.
PRIDEi P50053.

Protocols and materials databases

DNASUi 3795.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000260598 ; ENSP00000260598 ; ENSG00000138030 . [P50053-2 ]
ENST00000260599 ; ENSP00000260599 ; ENSG00000138030 . [P50053-1 ]
GeneIDi 3795.
KEGGi hsa:3795.
UCSCi uc002ril.2. human. [P50053-1 ]
uc002rim.2. human. [P50053-2 ]

Organism-specific databases

CTDi 3795.
GeneCardsi GC02P027309.
HGNCi HGNC:6315. KHK.
HPAi HPA007040.
MIMi 229800. phenotype.
614058. gene.
neXtProti NX_P50053.
Orphaneti 2056. Essential fructosuria.
PharmGKBi PA30095.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0524.
HOGENOMi HOG000212926.
HOVERGENi HBG003335.
InParanoidi P50053.
KOi K00846.
OMAi HVADFLV.
OrthoDBi EOG7K6PV6.
PhylomeDBi P50053.
TreeFami TF323942.

Enzyme and pathway databases

UniPathwayi UPA00202 .
BioCyci MetaCyc:HS06437-MONOMER.
BRENDAi 2.7.1.3. 2681.
Reactomei REACT_1571. Fructose catabolism.
SABIO-RK P50053.

Miscellaneous databases

EvolutionaryTracei P50053.
GenomeRNAii 3795.
NextBioi 14897.
PROi P50053.
SOURCEi Search...

Gene expression databases

ArrayExpressi P50053.
Bgeei P50053.
CleanExi HS_KHK.
Genevestigatori P50053.

Family and domain databases

Gene3Di 3.40.1190.20. 1 hit.
InterProi IPR011611. PfkB_dom.
IPR029056. Ribokinase-like.
[Graphical view ]
Pfami PF00294. PfkB. 1 hit.
[Graphical view ]
SUPFAMi SSF53613. SSF53613. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase)."
    Bonthron D.T., Brady N., Donaldson I.A., Steinmann B.
    Hum. Mol. Genet. 3:1627-1631(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS FRUCT ARG-40 AND THR-43, VARIANT ILE-49.
  2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Lung.
  6. "Structure and alternative splicing of the ketohexokinase gene."
    Hayward B.E., Bonthron D.T.
    Eur. J. Biochem. 257:85-91(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-26 AND 71-298, ALTERNATIVE SPLICING.
  7. "Structures of alternatively spliced isoforms of human ketohexokinase."
    Trinh C.H., Asipu A., Bonthron D.T., Phillips S.E.
    Acta Crystallogr. D 65:201-211(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.10 ANGSTROMS) IN COMPLEX WITH FRUCTOSE AND AMP-PNP, X-RAY CRYSTALLOGRAPHY (1.86 ANGSTROMS) OF ISOFORM C, SUBUNIT, SUBSTRATE-BINDING SITES.

Entry informationi

Entry nameiKHK_HUMAN
AccessioniPrimary (citable) accession number: P50053
Secondary accession number(s): Q6IBK2
, Q99532, Q9BRJ3, Q9UMN1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: September 3, 2014
This is version 138 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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