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HK1 T680S [cytosol]
Stable Identifier
R-HSA-5621880
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
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective HK1 causes hexokinase deficiency (HK deficiency) (Homo sapiens)
Defective HK1 does not phosphorylate Glc to form G6P (Homo sapiens)
HK1 mutants [cytosol] (Homo sapiens)
HK1 T680S [cytosol] (Homo sapiens)
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
RefSeq:NM_033500.2 HK1
RefSeq:NM_033496.2 HK1
RefSeq:NM_033498.2 HK1
RefSeq:NM_033497.2 HK1
RefSeq:NM_001322364.1 HK1
RefSeq:NM_000188.2 HK1
RefSeq:XM_011539732.1 HK1
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 H577_C672del [cytosol]
HK1 L529S [cytosol]
HK1 [cytosol]
Modified Residues
Name
L-threonine 680 replaced with L-serine
Coordinate
680
PsiMod
L-serine residue [MOD:00025]
A protein modification that effectively converts a source amino acid residue to L-serine.
L-threonine removal [MOD:01647]
A protein modification that effectively removes or replaces an L-threonine.
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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