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SLC5A5 solute carrier family 5 member 5 [ Homo sapiens (human) ]

Gene ID: 6528, updated on 26-Jul-2021

Summary

Official Symbol
SLC5A5provided by HGNC
Official Full Name
solute carrier family 5 member 5provided by HGNC
Primary source
HGNC:HGNC:11040
See related
Ensembl:ENSG00000105641 MIM:601843
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NIS; TDH1
Summary
This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009]
Expression
Biased expression in stomach (RPKM 21.5), salivary gland (RPKM 11.5) and 1 other tissue See more
Orthologs
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Genomic context

See SLC5A5 in Genome Data Viewer
Location:
19p13.11
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (17871394..17895175)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17982754..18005983)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Janus kinase 3 Neighboring gene ribosomal protein L18a Neighboring gene small nucleolar RNA, H/ACA box 68 Neighboring gene coiled-coil domain containing 124 Neighboring gene potassium calcium-activated channel subfamily N member 1 Neighboring gene RNA, 5S ribosomal pseudogene 468

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables iodide transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables iodide transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables iodide transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables iodide transmembrane transporter activity TAS
Traceable Author Statement
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sodium:iodide symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables sodium:iodide symporter activity TAS
Traceable Author Statement
more info
 
enables symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular response to cAMP IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in cellular response to gonadotropin stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in iodide transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in iodide transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in iodide transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in iodide transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in iodide transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ion transport TAS
Traceable Author Statement
more info
 
involved_in sodium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in thyroid hormone generation TAS
Traceable Author Statement
more info
 
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in extracellular vesicle HDA PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IC
Inferred by Curator
more info
PubMed 
located_in plasma membrane IC
Inferred by Curator
more info
PubMed 
is_active_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
sodium/iodide cotransporter
Names
Na(+)/I(-) cotransporter
Na(+)/I(-) symporter
solute carrier family 5 (sodium iodide symporter), member 5
solute carrier family 5 (sodium/iodide cotransporter), member 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012930.1 RefSeqGene

    Range
    4973..28202
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000453.3NP_000444.1  sodium/iodide cotransporter

    See identical proteins and their annotated locations for NP_000444.1

    Status: REVIEWED

    Source sequence(s)
    AC005796, AF260700, U66088
    Consensus CDS
    CCDS12368.1
    UniProtKB/Swiss-Prot
    Q92911
    Related
    ENSP00000222248.2, ENST00000222248.4
    Conserved Domains (1) summary
    cd11503
    Location:15554
    SLC5sbd_NIS; Na(+)/iodide cotransporter NIS and related proteins; solute-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    17871394..17895175
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528192.2XP_011526494.1  sodium/iodide cotransporter isoform X1

    Conserved Domains (1) summary
    cd11503
    Location:15565
    SLC5sbd_NIS; Na(+)/iodide cotransporter NIS and related proteins; solute-binding domain
  2. XM_011528193.3XP_011526495.1  sodium/iodide cotransporter isoform X2

    Conserved Domains (1) summary
    cl00456
    Location:1476
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  3. XM_017027158.1XP_016882647.1  sodium/iodide cotransporter isoform X3

  4. XM_011528194.3XP_011526496.1  sodium/iodide cotransporter isoform X4

    Conserved Domains (1) summary
    cl00456
    Location:1443
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
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