SLC29A3 L348Sfs*56 [lysosomal membrane]

Stable Identifier
R-HSA-5628797
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal membrane
Synonyms
Equilibrative nucleoside transporter 3, S29A3_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:Q9BZD2 SLC29A3
Gene Names
SLC29A3, ENT3, UNQ717/PRO1380
Chain
chain:1-475
Reference Genes
BioGPS Gene:55315 SLC29A3
COSMIC (genes):SLC29A3 SLC29A3
CTD Gene:55315 SLC29A3
dbSNP Gene:55315 SLC29A3
ENSEMBL:ENSG00000198246.9 SLC29A3
HGNC:23096 SLC29A3
KEGG Gene (Homo sapiens):55315 SLC29A3
Monarch:55315 SLC29A3
NCBI Gene:55315 SLC29A3
OMIM:612373 SLC29A3
UCSC:Q9BZD2 SLC29A3
Reference Transcript
Other Identifiers
0002450040
11739294_a_at
11752741_a_at
16705831
219344_PM_at
219344_at
3251024
3251028
3251029
3251043
3251046
3251047
3251049
3251050
3251051
3251052
3251053
55315
76604_at
7928208
A_14_P121695
A_23_P357360
A_23_P46871
A_24_P911787
GE55989
GO:0005215
GO:0005337
GO:0005515
GO:0005622
GO:0005737
GO:0005764
GO:0005765
GO:0005768
GO:0005773
GO:0005794
GO:0005886
GO:0015858
GO:0016020
GO:0016021
GO:0031410
GO:0031902
GO:0043226
GO:0043231
GO:0055085
GO:1901642
HMNXSV003026116
PH_hs_0025668
TC10000440.hg
TC10002118.hg
g8922906_3p_at
Participates
as a member of
Other forms of this molecule
SLC29A3 [mitochondrial outer membrane]
SLC29A3 R363Q [lysosomal membrane]
SLC29A3 R363W [lysosomal membrane]
SLC29A3 M116R [lysosomal membrane]
SLC29A3 R386Q [lysosomal membrane]
SLC29A3 G427S [lysosomal membrane]
SLC29A3 [lysosomal membrane]
Modified Residues
Name
Replacement of residues 348 to 403 by SLPSSCTTLLTYVAGSSPPGSRCQGPIARRSQGSCSSGPASSPSSCSVTTSPAST
Disease
Name Identifier Synonyms
histiocytosis DOID:3405 Hand Schuller Christian disease, chronic Histiocytosis X
Cross References
RefSeq
Guide to Pharmacology - Targets
OpenTargets
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:O43889-2 CREB3      0.556 3
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