Reactome | SLC5A5 G93R [plasma membrane]

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

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:ENSG00000105641.4 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_PM_at

211123_at

32459_at

3824624

3824625

3824626

3824627

3824629

3824630

3824631

3824632

3824633

3824634

3824635

3824636

3824637

3824638

3824639

3824640

3824641

3824642

3824643

6528

8026877

A_23_P101774

GE59330

GO:0003013

GO:0005215

GO:0005515

GO:0005576

GO:0005615

GO:0005622

GO:0005634

GO:0005737

GO:0005886

GO:0006575

GO:0006590

GO:0006811

GO:0006814

GO:0008507

GO:0015111

GO:0015293

GO:0015373

GO:0015705

GO:0016020

GO:0016021

GO:0022857

GO:0035725

GO:0042803

GO:0043226

GO:0055085

GO:0070062

GO:0071320

GO:0071371

GO:0150104

GO:1903561

GO:1904200

GO:1904322

GO:1904401

HMNXSV003004377

ILMN_1711275

ILMN_1797024

PH_hs_0005770

TC19000346.hg

U66088_at

g2887404_3p_at

Participates

as a member of

SLC5A5 mutants [plasma membrane] (Homo sapiens)

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

PsiMod

glycine removal [MOD:01638]

A protein modification that effectively removes or replaces an glycine.

L-arginine residue [MOD:00011]

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

Disease

Name	Identifier	Synonyms
congenital hypothyroidism	DOID:0050328	cretinism

Cross References

RefSeq

NP_000444.1

Guide to Pharmacology - Targets

920

OpenTargets

ENSG00000105641

HPA

ENSG00000105641-SLC5A5

GeneCards

Q92911

Ensembl

ENST00000222248, ENSP00000222248, ENSG00000105641

PRO

Q92911

Pharos - Targets

Q92911

Orphanet

15517

HMDB Protein

HMDBP02860

Interactors (2)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P0DPK4 NT2NC			0.556	3
UniProt:A8MQ03 CRTP1			0.556	3