Reactome | GNE V572L [cytosol]

GNE V572L [cytosol]

Stable Identifier

R-HSA-4088323

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, GLCNE_HUMAN

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External Reference Information

External Reference

UniProt:Q9Y223 GNE

Gene Names

GNE, GLCNE

Chain

chain:1-722

Reference Genes

BioGPS Gene:10020 GNE

COSMIC (genes):GNE GNE

CTD Gene:10020 GNE

dbSNP Gene:10020 GNE

ENSEMBL:ENSG00000159921.20 GNE

HGNC:23657 GNE

KEGG Gene (Homo sapiens):10020 GNE

Monarch:10020 GNE

NCBI Gene:10020 GNE

OMIM:603824 GNE

UCSC:Q9Y223 GNE

Reference Transcript

Other Identifiers

0006100735

10020

11721769_s_at

11750400_a_at

11751689_a_at

17093920

205042_PM_at

205042_at

3205107

3205109

3205110

3205111

3205112

3205113

3205114

3205120

3205121

3205122

3205124

3205125

3205126

3205127

3205130

3205132

3205133

3205134

3205137

3205138

3205143

36515_at

8161174

A_23_P216489

GE58366

GO:0000166

GO:0003824

GO:0004553

GO:0005515

GO:0005524

GO:0005622

GO:0005737

GO:0005829

GO:0005975

GO:0006045

GO:0006047

GO:0006054

GO:0007155

GO:0008152

GO:0008761

GO:0009384

GO:0016301

GO:0016310

GO:0016740

GO:0016787

GO:0016853

GO:0046835

GO:0046872

GO:0055086

GO:0071704

GO:1901135

HMNXSV003000929

HMNXSV003051746

ILMN_1664172

ILMN_1729417

PH_hs_0000598

TC09001068.hg

g6382074_3p_at

Participates

as a member of

GNE mutants [cytosol] (Homo sapiens)

Other forms of this molecule

GNE M712T [cytosol]

GNE R263L [cytosol]

GNE R266W [cytosol]

GNE R266Q [cytosol]

GNE A631V [cytosol]

GNE M171V [cytosol]

GNE C303V [cytosol]

GNE [cytosol]

Modified Residues

Name

L-valine 572 replaced with L-leucine

Coordinate

572

PsiMod

L-leucine residue [MOD:00020]

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

L-valine removal [MOD:01650]

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

Disease

Name	Identifier	Synonyms
myopathy	DOID:423

Cross References

RefSeq

NP_001177313.1, NP_005467.1, XP_016869656.1, NP_001121699.1, NP_001177312.1, NP_001177317.1

OpenTargets

ENSG00000159921

GeneCards

Q9Y223

HPA

ENSG00000159921-GNE

Ensembl

ENST00000396594, ENSP00000494141, ENSP00000445117, ENSP00000379839, ENSG00000159921, ENSP00000414760, ENST00000447283, ENST00000539208, ENST00000642385

PRO

Q9Y223

Pharos - Targets

Q9Y223

Orphanet

16150

HMDB Protein

HMDBP00332

PDB

2YI1, 3EO3, 2YHW, 4ZHT, 2YHY

Interactors (3)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P12814 ACTN1	3	ACTN1 [cytosol] (R-HSA-354096) ACTN1 [platelet alpha granule lumen] (R-HSA-349724) ACTN1 [extracellular region] (R-HSA-349722)	0.591	3
UniProt:Q969Y2 GTPBP3	1	GTPBP3 [mitochondrial matrix] (R-HSA-6787414)	0.556	3
UniProt:O43597 SPRY2	8	p-Y55,Y227-SPRY2 [plasma membrane] (R-HSA-1295629) p-S111,S120-SPRY2 [cytosol] (R-HSA-1295590) SPRY2 [plasma membrane] (R-HSA-182924) SPRY2 [cytosol] (R-HSA-182949) p-Y55-SPRY2 [cytosol] (R-HSA-182950) p-S112,S115-SPRY2 [cytosol] (R-HSA-1295619) p-Y55,Y227-SPRY2 [plasma membrane] (R-HSA-934555) p-S112,S121-SPRY2 [plasma membrane] (R-HSA-934595)	0.556	3