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
00010+2.7.1.1
0001090746
00051+2.7.1.1
00052+2.7.1.1
00500+2.7.1.1
00520+2.7.1.1
00521+2.7.1.1
00524+2.7.1.1
10052
11718291_a_at
11718292_s_at
11731491_a_at
11752103_a_at
11956
16705577
1CZA
1DGK
1HKB
1HKC
1QHA
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
4F9O
4FOE
4FOI
4FPA
4FPB
7043
7044
7928019
A0A024QZK7
A0A2R8Y626
A0A2R8Y7T9
A0A2R8YEE7
A_23_P217958
A_24_P367965
AAA52646
AAC00172
AAC15862
AAC15863
AAC25424
AAF82319
AAF82320
AAH08730
AC016821
AF016349
AF016351
AF016352
AF016353
AF016354
AF016355
AF016356
AF016357
AF016358
AF016359
AF016360
AF016361
AF016362
AF016363
AF016364
AF016365
AF029306
AF073786
AF163910
AF163911
AF163912
AL596223
AL672126
B1AR62
B1AR63
BC008730
CAA47379
CAB010052
CCDS7289
CCDS7291
CCDS7292
CH471083
EAW54321
EAW54322
ENSG00000156515
ENSP00000298649
ENSP00000352398
ENSP00000353433
ENSP00000402103
ENSP00000415949
ENSP00000494664
ENST00000298649
ENST00000298649.8
ENST00000359426
ENST00000359426.6
ENST00000360289
ENST00000360289.6
ENST00000436817
ENST00000436817.6
ENST00000448642
ENST00000448642.6
ENST00000643399
ENST00000643399.2
EntrezGene:3098
EntrezGene:HK1
g4504390_3p_at
GE58076
GE60467
GO:0000166
GO:0001678
GO:0002376
GO:0002741
GO:0003674
GO:0003824
GO:0004340
GO:0004396
GO:0005515
GO:0005524
GO:0005536
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005739
GO:0005741
GO:0005829
GO:0005975
GO:0006002
GO:0006013
GO:0006091
GO:0006096
GO:0006810
GO:0006950
GO:0006954
GO:0008150
GO:0008152
GO:0008865
GO:0009056
GO:0015031
GO:0016020
GO:0016301
GO:0016310
GO:0016740
GO:0016773
GO:0019158
GO:0019318
GO:0034641
GO:0042592
GO:0042802
GO:0042834
GO:0043167
GO:0043226
GO:0044281
GO:0045087
GO:0045121
GO:0046835
GO:0050718
GO:0051156
GO:0061621
GO:0072655
GO:0072656
HGNC:4922
HK1
HK1-201
HK1-202
HK1-203
HK1-205
HK1-206
HK1-218
HPA007043
HPA007044
HPA011956
ILMN_1727672
ILMN_1755548
ILMN_1761829
ILMN_2382990
IPR001312
IPR019807
IPR022672
IPR022673
LRG_365
LRG_365t1
M75126
M75126_at
MIM:142600
MIM:235700
MIM:605285
MIM:617460
NM_000188
NM_001322364
NM_001322365
NM_001322366
NM_001322367
NM_001358263
NM_033496
NM_033497
NM_033498
NM_033500
NP_000179
NP_001309293
NP_001309294
NP_001309295
NP_001309296
NP_001345192
NP_277031
NP_277032
NP_277033
NP_277035
P78542
PF00349
PF03727
PH_hs_0006537
PR00475
TC10000419.hg
TC10002109.hg
U38227_s_at
UPI0000111BA5
UPI000013E4FD
UPI000013E942
UPI000013E945
X66957
XM_005269737
XM_011539732
XM_024447969
XP_005269794
XP_011538034
XP_024303737
Participant Of
hasMember
Other forms of this molecule
HK1 [cytosol]
HK1 577-672del [cytosol]
HK1 T680S [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
PRO
Orphanet
HMDB Protein
PDB
Interactors (3)