Reactome | GNE R263L [cytosol]

GNE R263L [cytosol]

Stable Identifier

R-HSA-4088402

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, IBM2

Chain

chain:1-722

Reference Genes

BioGPS Gene:10020 GNE

COSMIC (genes):GNE GNE

CTD Gene:10020 GNE

dbSNP Gene:10020 GNE

ENSEMBL:ENSG00000159921 GNE

HGNC:23657 GNE

KEGG:hsa:10020 GNE

Monarch:10020 GNE

NCBI Gene:10020 GNE

OMIM:603824 GNE

UCSC:Q9Y223 GNE

Reference Transcript

Participates

as a member of

GNE mutants [cytosol] (Homo sapiens)

Other forms of this molecule

GNE [cytosol]

GNE C303V [cytosol]

GNE M171V [cytosol]

GNE A631V [cytosol]

GNE R266Q [cytosol]

GNE R266W [cytosol]

GNE M712T [cytosol]

GNE V572L [cytosol]

Modified Residues

Name

L-arginine 263 replaced with L-leucine

Coordinate

263

PsiMod

L-leucine residue [MOD:00020]

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

L-arginine removal [MOD:01632]

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

Disease

Name	Identifier	Synonyms
sialuria	DOID:3659

Cross References

RefSeq

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

OpenTargets

ENSG00000159921

ENSEMBL

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

HPA

ENSG00000159921-GNE

GeneCards

GNE

PRO

Q9Y223

Pharos - Targets

Q9Y223

Orphanet

GNE

HMDB Protein

HMDBP00332

PDB

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

Interactors (4)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q7Z3S9 NOTCH2NLA	3	NOTCH2NLA [extracellular region] (R-HSA-9908935) NOTCH2NLA(1-?) [extracellular region] (R-HSA-9911493) NOTCH2NLA(?-236) [extracellular region] (R-HSA-9911490)	0.666	4
UniProt:P12814 ACTN1	3	ACTN1 [platelet alpha granule lumen] (R-HSA-349724) ACTN1 [extracellular region] (R-HSA-349722) ACTN1 [cytosol] (R-HSA-354096)	0.591	3
UniProt:Q969Y2 GTPBP3	1	GTPBP3 [mitochondrial matrix] (R-HSA-6787414)	0.556	3
UniProt:O43597 SPRY2	8	p-Y55-SPRY2 [cytosol] (R-HSA-182950) SPRY2 [plasma membrane] (R-HSA-182924) SPRY2 [cytosol] (R-HSA-182949) 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) p-S110,S120-SPRY2 [cytosol] (R-HSA-1295590) p-Y55,Y227-SPRY2 [plasma membrane] (R-HSA-1295629)	0.556	3

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