Reactome | GALK1 Q382* [cytosol]

GALK1 Q382* [cytosol]

Stable Identifier

R-HSA-5610007

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

Galactokinase , Galactose kinase

Icon

Locations in the PathwayBrowser

Expand all

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

ENSEMBL:ENSG00000108479.13 GALK1

HGNC:4118 GALK1

Monarch:2584 GALK1

NCBI Gene:2584 GALK1

OMIM:604313 GALK1

Reference Transcript

RefSeq:NM_000154.1 GALK1

Other Identifiers

11749866_x_at

11755574_a_at

16848873

204374_PM_s_at

204374_s_at

2584

33183_at

3770924

3770926

3770927

3770928

3770929

3770931

3770932

3770933

3770934

3770936

3770938

3770940

8018428

A_23_P141126

GE57794

GO:0000166

GO:0003824

GO:0004335

GO:0005515

GO:0005524

GO:0005534

GO:0005576

GO:0005615

GO:0005737

GO:0005829

GO:0005975

GO:0006012

GO:0006091

GO:0016020

GO:0016301

GO:0016310

GO:0016740

GO:0016773

GO:0019388

GO:0019402

GO:0033499

GO:0043226

GO:0044238

GO:0046835

GO:0055086

GO:0061623

GO:0070062

GO:0071704

GO:1901135

HMNXSV003008380

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 V32M [cytosol]

GALK1 R256W [cytosol]

GALK1 P28T [cytosol]

GALK1 E80* [cytosol]

GALK1 [cytosol]

Modified Residues

Name

Nonsense mutation at L-glutamine 382

Coordinate

382

PsiMod

L-glutamine removal [MOD:01637]

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

Disease

Name	Identifier	Synonyms
galactosemia	DOID:9870	Galactose intolerance, Galactosaemia

Cross References

RefSeq

NP_000145.1

OpenTargets

ENSG00000108479

ZINC - Substances

GALK1_HUMAN

ZINC target

P51570

PRO

P51570

PDB

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

HPA

ENSG00000108479-GALK1

GeneCards

P51570

Ensembl

ENST00000588479, ENST00000225614, ENSG00000108479, ENSP00000465930, ENSP00000225614

Pharos - Targets

P51570

Orphanet

16094

ZINC - Predictions - Purchasable

GALK1_HUMAN

HMDB Protein

HMDBP01379

Interactors (2)

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

Cite Us!