Reactome | GALK1 V32M [cytosol]

GALK1 V32M [cytosol]

Stable Identifier

R-HSA-5610010

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

Galactokinase , Galactose kinase

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External Reference Information

External Reference

UniProt:P51570 GALK1

Gene Names

GALK1, GALK

Chain

chain:1-392

Reference Genes

BioGPS Gene:2584 GALK1

COSMIC (genes):GALK1 GALK1

CTD Gene:2584 GALK1

dbSNP Gene:2584 GALK1

ENSEMBL:ENSG00000108479 GALK1

HGNC:4118 GALK1

KEGG:hsa:2584 GALK1

Monarch:2584 GALK1

NCBI Gene:2584 GALK1

OMIM:604313 GALK1

UCSC:P51570 GALK1

Reference Transcript

RefSeq:NM_000154.1 GALK1

Other Identifiers

11749866_x_at

11755574_a_at

11761150_a_at

16848873

204374_PM_s_at

204374_s_at

2584

33183_at

3770924

3770925

3770926

3770927

3770928

3770929

3770930

3770931

3770932

3770933

3770934

3770935

3770936

3770937

3770938

3770940

8018428

A_23_P141126

GE57794

GO:0003824

GO:0004335

GO:0005515

GO:0005524

GO:0005534

GO:0005737

GO:0005829

GO:0005975

GO:0006012

GO:0006091

GO:0016020

GO:0016301

GO:0016740

GO:0016773

GO:0019402

GO:0033499

GO:0043226

GO:0046835

GO:0055086

GO:0061623

GO:0070062

GO:1901135

HMNXSV003008380

Hs.85266.2.A1_3p_at

Hs.92357.0.A1_3p_a_at

ILMN_1803194

L76927_rna1_at

PH_hs_0019449

TC17001881.hg

Participates

as a member of

GALK1 mutants [cytosol] (Homo sapiens)

Other forms of this molecule

GALK1 [cytosol]

GALK1 Q382* [cytosol]

GALK1 E80* [cytosol]

GALK1 P28T [cytosol]

GALK1 R256W [cytosol]

Modified Residues

Name

L-valine 32 replaced with L-methionine

Coordinate

PsiMod

L-methionine residue [MOD:00022]

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

L-valine removal [MOD:01650]

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

Disease

Name	Identifier	Synonyms
galactosemia	DOID:9870	Galactose intolerance, Galactosaemia

Cross References

OpenTargets

ENSG00000108479

ENSEMBL

ENSP00000225614, ENST00000588479, ENST00000225614, ENSP00000465930

HPA

ENSG00000108479-GALK1

ZINC - Substances

GALK1_HUMAN

ZINC target

P51570

PRO

P51570

Pharos - Targets

P51570

Orphanet

GALK1

GlyGen

P51570

ZINC - Predictions - Purchasable

GALK1_HUMAN

HMDB Protein

HMDBP01379

PDB

7RCL, 6Q91, 6ZFH, 7S4C, 7RCM, 6Q90, 1WUU, 6ZGV, 7S49, 6GR2, 6Q3X, 6ZGY, 6Q8Z, 7OZX, 6ZGZ, 6Q3W, 6QJE, 6ZH0, 6ZGW, 6ZGX

Interactors (3)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q9NPJ4 PNRC2	1	PNRC2 [cytosol] (R-HSA-8879146)	0.556	3
UniProt:Q96N96-6 SPATA13			0.488	2
UniProt:P13569 CFTR	17	misfolded CFTR [endoplasmic reticulum membrane] (R-HSA-8868730) CFTR [endoplasmic reticulum membrane] (R-HSA-8866837) CFTR [plasma membrane] (R-HSA-383188) CFTR N1303K [plasma membrane] (R-HSA-5678983) CFTR F508del [plasma membrane] (R-HSA-5678978) CFTR W1282* [plasma membrane] (R-HSA-5678976) CFTR G551D [plasma membrane] (R-HSA-5678977) CFTR G542* [plasma membrane] (R-HSA-5678986) ub-CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866842) ub-CFTR F508del [cytosol] (R-HSA-8866838) CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866834) PolyUb-CFTR [endosome membrane] (R-HSA-6782976) CFTR [endosome membrane] (R-HSA-6782965) CFTR [Golgi-associated vesicle membrane] (R-HSA-5627079) CFTR [lysosomal membrane] (R-HSA-5627279) PolyUb-CFTR [plasma membrane] (R-HSA-8867595) PolyUb-CFTR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869104)	0.483	7