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
Expand all
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
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
0000430647
0000670180
0000670739
0001090746
11718291_a_at
11718292_s_at
11731491_a_at
11752103_a_at
16705577
200697_at
3098
3250279
3250281
3250282
3250284
3250285
3250288
3250289
3250294
3250297
3250298
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:0003674
GO:0003824
GO:0004340
GO:0004396
GO:0005515
GO:0005524
GO:0005536
GO:0005575
GO:0005622
GO:0005737
GO:0005739
GO:0005741
GO:0005829
GO:0005975
GO:0006002
GO:0006013
GO:0006091
GO:0006096
GO:0006950
GO:0006954
GO:0008150
GO:0008152
GO:0008865
GO:0009056
GO:0016020
GO:0016301
GO:0016310
GO:0016740
GO:0016773
GO:0019158
GO:0019318
GO:0032731
GO:0034641
GO:0042592
GO:0042802
GO:0042834
GO:0043167
GO:0043226
GO:0044281
GO:0045087
GO:0045121
GO:0046835
GO:0051156
GO:0061621
GO:0072655
GO:0072656
ILMN_1727672
ILMN_1755548
ILMN_1761829
ILMN_2382990
M75126_at
PH_hs_0006537
TC10000419.hg
TC10002109.hg
U38227_s_at
g4504390_3p_at
Participant Of
hasMember
Other forms of this molecule
HK1 T680S [cytosol]
HK1 577-672del [cytosol]
HK1 [cytosol]
Modified Residues
Name
L-leucine 529 replaced with L-serine
Coordinate
529
PsiMod
L-serine residue [MOD:00025]
A protein modification that effectively converts a source amino acid residue to L-serine.
L-leucine removal [MOD:01641]
A protein modification that effectively removes or replaces an L-leucine.
Disease
Name Identifier Synonyms
congenital nonspherocytic hemolytic anemia 2861 Congenital nonspherocytic hemolytic anemia (disorder) [Ambiguous], Hereditary nonspherocytic hemolytic anemia (disorder), hereditary nonspherocytic hemolytic anemia, HNSHA (disorder)
Cross References
RefSeq
OpenTargets
GeneCards
HPA
Ensembl
PRO
Orphanet
HMDB Protein
PDB
Interactors (3)
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