Reactome | KHK A43T [cytosol]

KHK A43T [cytosol]

Stable Identifier

R-HSA-5656462

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

Ketohexokinase A43T, Hepatic fructokinase A43T

Locations in the PathwayBrowser

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Literature References

PubMed ID	Title	Journal	Year
7833921	Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase) Donaldson, IA, Brady, N, Steinmann, B, Bonthron, DT	Hum Mol Genet	1994

External Reference Information

External Reference

UniProt:P50053 KHK

Gene Names

KHK

Chain

chain:1-298

Reference Genes

BioGPS Gene:3795 KHK

COSMIC (genes):KHK KHK

CTD Gene:3795 KHK

dbSNP Gene:3795 KHK

ENSEMBL:ENSG00000138030 KHK

ENSEMBL:ENSG00000138030.14 KHK

HGNC:6315 KHK

KEGG Gene (Homo sapiens):3795 KHK

Monarch:3795 KHK

NCBI Gene:3795 KHK

OMIM:614058 KHK

UCSC:P50053 KHK

Reference Transcript

Other Identifiers

11729680_a_at

11755098_a_at

16878081

205175_PM_s_at

205175_s_at

211028_PM_s_at

211028_s_at

2474241

2474242

2474243

2474245

2474251

2474254

2474256

2474257

2474260

2474261

2474262

2474263

2474264

37606_at

37608_g_at

3795

8040802

A_14_P100983

A_23_P5845

A_33_P3309984

A_33_P3333455

GE60040

GO:0000166

GO:0003824

GO:0004454

GO:0005515

GO:0005524

GO:0005576

GO:0005615

GO:0005737

GO:0005829

GO:0005975

GO:0006000

GO:0006091

GO:0006796

GO:0009744

GO:0009749

GO:0009750

GO:0010043

GO:0016301

GO:0016310

GO:0016740

GO:0032868

GO:0043226

GO:0046835

GO:0070062

GO:0070873

HMNXSV003014060

HMNXSV003031430

HMNXSV003033355

ILMN_1678173

ILMN_1706690

ILMN_1717888

PH_hs_0024894

TC02000164.hg

X78678_at

g13623266_3p_s_at

g4557692_3p_a_at

Participates

as a component of

KHK A43T dimer [cytosol] (Homo sapiens)

Other forms of this molecule

KHK G40R [cytosol]

KHK [cytosol]

Modified Residues

Name

L-alanine 43 replaced with L-threonine

Coordinate

PsiMod

L-alanine removal [MOD:01631]

A protein modification that effectively removes or replaces an L-alanine.

L-threonine residue [MOD:00026]

A protein modification that effectively converts a source amino acid residue to L-threonine.

Disease

Name	Identifier	Synonyms
carbohydrate metabolic disorder	DOID:2978	disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder

Cross References

RefSeq

NP_000212.1, NP_006479.1

Guide to Pharmacology - Targets

3236

OpenTargets

ENSG00000138030

ZINC - Substances

KHK_HUMAN

ZINC target

P50053

PRO

P50053

PDB

2HQQ, 6UL7, 3B3L, 5WBQ, 5WBR, 6W0N, 3NC9, 6W0X, 3RO4, 5WBZ, 3QA2, 3Q92, 6W0W, 3NCA, 5WBM, 6W0Y, 2HW1, 6W0Z, 3NBV, 5WBP, 2HLZ, 3NC2, 5WBO, 3NBW, 3QAI

IntEnz

2.7.1.3

HPA

ENSG00000138030-KHK

GeneCards

P50053

Ensembl

ENSP00000260598, ENSG00000138030, ENST00000260598, ENST00000260599, ENSP00000260599

Pharos - Targets

P50053

Orphanet

16300

ZINC - Predictions - Purchasable

KHK_HUMAN

HMDB Protein

HMDBP01205