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SLC5A5 G93R [plasma membrane]
Stable Identifier
R-HSA-5658172
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
NIS, Sodium/iodide cotransporter, SL55_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1) (Homo sapiens)
Defective SLC5A5 does not cotransport Na+ with I- from extracellular region to cytosol (Homo sapiens)
SLC5A5 mutants [plasma membrane] (Homo sapiens)
SLC5A5 G93R [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q92911 SLC5A5
Gene Names
SLC5A5, NIS
Chain
chain:1-643
Reference Genes
BioGPS Gene:6528 SLC5A5
COSMIC (genes):SLC5A5 SLC5A5
CTD Gene:6528 SLC5A5
dbSNP Gene:6528 SLC5A5
ENSEMBL:ENSG00000105641 SLC5A5
ENSEMBL_homo_sapiens_GENE:ENSG00000105641 SLC5A5
HGNC:11040 SLC5A5
KEGG Gene (Homo sapiens):6528 SLC5A5
Monarch:6528 SLC5A5
NCBI Gene:6528 SLC5A5
OMIM:601843 SLC5A5
UCSC:Q92911 SLC5A5
Reference Transcript
RefSeq:NM_000453.2 SLC5A5
Other Identifiers
0001940142
11737452_a_at
11755588_a_at
16859657
211123_at
22364
32459_at
3824624
3824625
3824626
3824627
3824629
3824630
3824631
3824632
3824633
3824634
3824635
3824636
3824637
3824638
3824639
3824640
3824641
3824642
3824643
49055
6528
8026877
A_23_P101774
AAB17378
AAC62827
AAF70339
AAI05048
AAI05050
AC005796
AF260700
BAA24835
BC105047
BC105049
CAB022364
CCDS12368
D87920
ENSG00000105641
ENSP00000222248
ENST00000222248
EntrezGene:6528
g2887404_3p_at
GE59330
GO:0003674
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005634
GO:0005886
GO:0006590
GO:0006810
GO:0006811
GO:0006814
GO:0008150
GO:0008507
GO:0015111
GO:0015293
GO:0015705
GO:0016020
GO:0016021
GO:0022857
GO:0043226
GO:0055085
GO:0070062
GO:0071320
GO:0071371
GO:1903561
HGNC:11040
HPA049055
ILMN_1711275
ILMN_1797024
IPR001734
IPR018212
IPR035689
IPR038377
MIM:274400
MIM:601843
NM_000453
NP_000444
PF00474
PH_hs_0005770
SLC5A5
SLC5A5-201
TC19000346.hg
U66088
U66088_at
uc002nhr.4
UPI00001359F6
XM_011528192
XM_011528193
XM_011528194
XM_017027158
XP_011526494
XP_011526495
XP_011526496
XP_016882647
Participant Of
hasMember
SLC5A5 mutants [plasma membrane]
Other forms of this molecule
SLC5A5 T354P [plasma membrane]
SLC5A5 V59E [plasma membrane]
SLC5A5 R124H [plasma membrane]
SLC5A5 C272* [plasma membrane]
SLC5A5 G395R [plasma membrane]
SLC5A5 [plasma membrane]
Modified Residues
Name
glycine 93 replaced with L-arginine
Coordinate
93
PsiMod
L-arginine residue [MOD:00011]
A protein modification that effectively converts a source amino acid residue to an L-arginine.
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
Disease
Name
Identifier
Synonyms
congenital hypothyroidism
0050328
cretinism
Cross References
RefSeq
NP_000444.1
OpenTargets
ENSG00000105641
GeneCards
Q92911
PRO
Q92911
Orphanet
15517
HMDB Protein
HMDBP02860
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q7Z3S9 NT2NA
0.488
2
UniProt:A8MQ03 CRTP1
0.488
2
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