SLC6A5 V432F

Stable Identifier
R-HSA-5660882
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
GLYT2, Sodium- and chloride-dependent glycine transporter 2, SC6A5_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:Q9Y345 SLC6A5
Gene Names
SLC6A5, GLYT2, NET1
Chain
chain:1-797
Reference Genes
BioGPS Gene:9152 SLC6A5
COSMIC (genes):SLC6A5 SLC6A5
CTD Gene:9152 SLC6A5
dbSNP Gene:9152 SLC6A5
ENSEMBL:ENSG00000165970 SLC6A5
ENSEMBL:ENSG00000165970 SLC6A5
HGNC:11051 SLC6A5
KEGG Gene (Homo sapiens):hsa:9152 SLC6A5
Monarch:9152 SLC6A5
NCBI Gene:9152 SLC6A5
OMIM:604159 SLC6A5
UCSC:Q9Y345 SLC6A5
Reference Transcript
Other Identifiers
11735289_a_at
16722825
210810_s_at
236508_at
33028_at
3323516
3323517
3323519
3323520
3323521
3323524
3323525
3323526
3323527
3323532
3323533
3323536
3323537
3323538
3323539
3323540
3323545
3323547
3323549
3323550
3323551
3323552
3323553
7938907
80321_at
9152
A_14_P113842
A_14_P114336
A_14_P138835
A_23_P116624
AAC95145
AAD27892
AAH96319
AAK12641
AAK29670
AC090707
AF085412
AF117999
AF142501
AF352733
BC096319
CCDS7854
ENSG00000165970
ENSP00000434364
ENST00000525748
EntrezGene:9152
g4689409_3p_s_at
GE54742
GE868385
GO:0003674
GO:0005328
GO:0005575
GO:0005623
GO:0005886
GO:0005887
GO:0006810
GO:0006836
GO:0007267
GO:0007268
GO:0008150
GO:0015187
GO:0015293
GO:0015375
GO:0015816
GO:0016020
GO:0016021
GO:0022857
GO:0043167
GO:0046872
GO:0055085
GO:0060012
GO:1903804
HGNC:11051
Hs.147546.0.A1_3p_at
ILMN_1724641
IPR000175
IPR037272
J3KNC4
MIM:604159
MIM:614618
NM_001318369
NM_004211
NP_001305298
NP_004202
PF00209
PH_hs_0008239
PR00176
SLC6A5
SLC6A5-202
TC11000258.hg
uc001mqd.4
UPI00004564A5
XM_017018544
XM_017018545
XP_016874033
XP_016874034
XR_001748029
Participant Of
hasMember
Other forms of this molecule
SLC6A5 Y377* [plasma membrane]
SLC6A5 S510R [plasma membrane]
SLC6A5 T425M [plasma membrane]
SLC6A5 [plasma membrane]
Modified Residues
Name
L-valine 432 replaced with L-phenylalanine
Coordinate
432
PsiMod HEY
L-valine removal [MOD:01650]
A protein modification that effectively removes or replaces an L-valine.
L-phenylalanine residue [MOD:00023]
A protein modification that effectively converts a source amino acid residue to L-phenylalanine.
Disease
Name Identifier Synonyms
brain disease 936 encephalopathy
Cross References
RefSeq
GeneCards
ZINC - Substances
ZINC target
PRO
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein