Reactome | HK1 L529S [cytosol]

HK1 L529S [cytosol]

Stable Identifier

R-HSA-5621861

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

hexokinase 1, hexokinase type 1, hexokinase brain form, HXK1_HUMAN, Hexokinase, type I , HK I, Brain form hexokinase

Locations in the PathwayBrowser

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External Reference Information

External Reference

UniProt:P19367 HK1

Gene Names

HK1

Chain

chain:1-917

Reference Genes

BioGPS Gene:3098 HK1

COSMIC (genes):HK1 HK1

CTD Gene:3098 HK1

dbSNP Gene:3098 HK1

ENSEMBL:ENSG00000156515 HK1

ENSEMBL_homo_sapiens_GENE:ENSG00000156515.25 HK1

HGNC:4922 HK1

KEGG Gene (Homo sapiens):3098 HK1

Monarch:3098 HK1

NCBI Gene:3098 HK1

OMIM:142600 HK1

UCSC:P19367 HK1

Reference Transcript

Other Identifiers

11718291_a_at

11718292_s_at

11731491_a_at

11752103_a_at

16705577

200697_PM_at

200697_at

3098

3250279

3250281

3250282

3250284

3250288

3250289

3250294

3250302

3250303

3250307

3250308

3250312

3250313

3250323

3250324

3250325

3250327

3250329

3250331

3250341

3250344

3250346

3250347

3250349

3250350

3250352

3250353

3250354

3250356

3250357

3250359

3250360

3250361

7928019

A_23_P217958

A_24_P367965

GE58076

GE60467

GO:0000166

GO:0001678

GO:0002376

GO:0002720

GO:0003824

GO:0004340

GO:0004396

GO:0005515

GO:0005524

GO:0005536

GO:0005737

GO:0005739

GO:0005741

GO:0005829

GO:0005975

GO:0006002

GO:0006006

GO:0006013

GO:0006091

GO:0006096

GO:0006954

GO:0008152

GO:0008865

GO:0016020

GO:0016301

GO:0016310

GO:0016740

GO:0016773

GO:0019158

GO:0019318

GO:0032731

GO:0042834

GO:0043226

GO:0045087

GO:0045121

GO:0046835

GO:0047931

GO:0051156

GO:0055086

GO:0061621

GO:0072655

GO:0072656

GO:0098542

GO:1901135

HMNXSV003053862

ILMN_1755548

ILMN_1761829

ILMN_2382990

M75126_at

PH_hs_0006537

TC10000419.hg

TC10002109.hg

U38227_s_at

g4504390_3p_at

Participates

as a member of

HK1 mutants [cytosol] (Homo sapiens)

Other forms of this molecule

HK1 T680S [cytosol]

HK1 H577_C672del [cytosol]

HK1 [cytosol]

Modified Residues

Name

L-leucine 529 replaced with L-serine

Coordinate

529

PsiMod

L-leucine removal [MOD:01641]

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

L-serine residue [MOD:00025]

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

Disease

Name	Identifier	Synonyms
congenital nonspherocytic hemolytic anemia	DOID:2861	Congenital nonspherocytic hemolytic anemia (disorder) [Ambiguous], Hereditary nonspherocytic hemolytic anemia (disorder), hereditary nonspherocytic hemolytic anemia, HNSHA (disorder)

Cross References

RefSeq

XP_011538034.1, NP_277031.1, NP_277033.1, NP_277035.2, NP_001309293.1, NP_277032.1, NP_000179.2

OpenTargets

ENSG00000156515

GeneCards

P19367

HPA

ENSG00000156515-HK1

Ensembl

ENST00000436817, ENST00000643399, ENSP00000298649, ENST00000298649, ENSP00000352398, ENSP00000494664, ENST00000359426, ENSG00000156515, ENSP00000415949

PRO

P19367

Pharos - Targets

P19367

Orphanet

16199

HMDB Protein

HMDBP00215

PDB

1QHA, 1CZA, 4FPA, 4F9O, 1HKB, 1DGK, 4FOI, 4FPB, 4FOE, 1HKC

Interactors (7)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P05480 Src	13	SRC-2 [cytosol] (R-MMU-191648) phospho-MyrG-p-Y419-SRC [plasma membrane] (R-MMU-1810408) SRC-1 [plasma membrane] (R-MMU-65043) phospho-MyrG,p-Y530-SRC [plasma membrane] (R-MMU-377598) phospho-p-Y419-SRC [cytosol] (R-MMU-377592) Src [cytosol] (R-MMU-418782) phospho-p-Y419-SRC-1 [plasma membrane] (R-MMU-112331) MyrG-SRC [plasma membrane] (R-MMU-8876922) phospho-p-Y419-SRC [cytosol] (R-MMU-8964276) SRC [cytosol] (R-MMU-9628701) MyrG-p-Y424-Src [plasma membrane] (R-MMU-9011258) Activated Src [nucleoplasm] (R-MMU-8937700) p-Y416-Src [cytosol] (R-MMU-8964306)	0.644	8
UniProt:P15336 ATF2	2	ATF2 [nucleoplasm] (R-HSA-450336) p-T69,T71-ATF2 [nucleoplasm] (R-HSA-450243)	0.576	4
UniProt:P21796 VDAC1	7	PolyUb-VDAC1 [mitochondrial outer membrane] (R-HSA-6783079) VDAC1 [mitochondrial intermembrane space] (R-HSA-1267960) VDAC1 [mitochondrial outer membrane] (R-HSA-1267988) Ub-VDAC1 [mitochondrial outer membrane] (R-HSA-9834989) K48polyUb-VDAC1 [mitochondrial outer membrane] (R-HSA-5205624) K63polyUb-VDAC1 [mitochondrial outer membrane] (R-HSA-9834037) p-S65-Ub:VDAC1 [mitochondrial outer membrane] (R-HSA-9834991)	0.564	3
UniProt:P19367 HK1	4	HK1 T680S [cytosol] (R-HSA-5621880) HK1 H577_C672del [cytosol] (R-HSA-5621873) HK1 L529S [cytosol] (R-HSA-5621861) HK1 [cytosol] (R-HSA-70395)	0.536	2
UniProt:P12931 SRC	6	p-Y419-SRC [nucleoplasm] (R-HSA-8937690) SRC [cytosol] (R-HSA-9628701) p-Y419-SRC [cytosol] (R-HSA-8964276) MyrG-SRC [plasma membrane] (R-HSA-8876922) MyrG,p-Y530-SRC [plasma membrane] (R-HSA-377598) MyrG-p-Y419-SRC [plasma membrane] (R-HSA-1810408)	0.524	2
UniProt:P13569 CFTR	17	PolyUb-CFTR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869104) PolyUb-CFTR [plasma membrane] (R-HSA-8867595) CFTR [lysosomal membrane] (R-HSA-5627279) CFTR [Golgi-associated vesicle membrane] (R-HSA-5627079) CFTR [endosome membrane] (R-HSA-6782965) PolyUb-CFTR [endosome membrane] (R-HSA-6782976) CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866834) ub-CFTR F508del [cytosol] (R-HSA-8866838) ub-CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866842) CFTR G542* [plasma membrane] (R-HSA-5678986) CFTR G551D [plasma membrane] (R-HSA-5678977) CFTR W1282* [plasma membrane] (R-HSA-5678976) CFTR F508del [plasma membrane] (R-HSA-5678978) CFTR N1303K [plasma membrane] (R-HSA-5678983) CFTR [plasma membrane] (R-HSA-383188) CFTR [endoplasmic reticulum membrane] (R-HSA-8866837) misfolded CFTR [endoplasmic reticulum membrane] (R-HSA-8868730)	0.519	5
UniProt:Q15388 TOMM20	6	PolyUb-TOMM20 [mitochondrial outer membrane] (R-HSA-6783144) TOMM20 [mitochondrial outer membrane] (R-HSA-1252091) Ub-TOMM20 [mitochondrial outer membrane] (R-HSA-9834976) K48polyUb-TOMM20 [mitochondrial outer membrane] (R-HSA-9843324) K63polyUb-TOMM20 [mitochondrial outer membrane] (R-HSA-9843313) p-S65-Ub:TOMM20 [mitochondrial outer membrane] (R-HSA-9834948)	0.483	2

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