SLC5A5 R124H [plasma membrane]

Stable Identifier
R-HSA-5658196
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
NIS, Sodium/iodide cotransporter, SL55_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
SLC5A5, NIS
Chain
chain:1-643
Reference Transcript
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
Other forms of this molecule
Modified Residues
Name
L-arginine 124 replaced with L-histidine
Coordinate
124
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-histidine.
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
congenital hypothyroidism 0050328 cretinism
Cross References
RefSeq
OpenTargets
GeneCards
PRO
Orphanet
HMDB Protein
Interactors (2)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:Q7Z3S9 NT2NA      0.488 2
 UniProt:A8MQ03 CRTP1      0.488 2