SLC5A8 solute carrier family 5 member 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC5A8provided by HGNC
Official Full Name: solute carrier family 5 member 8provided by HGNC
Primary source: HGNC:HGNC:19119
See related: Ensembl:ENSG00000256870 MIM:608044; AllianceGenome:HGNC:19119
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AIT; SMCT; SMCT1
Summary: SLC5A8 has been shown to transport iodide by a passive mechanism (Rodriguez et al., 2002 [PubMed 12107270]) and monocarboxylates and short-chain fatty acids by a sodium-coupled mechanism (Gopal et al., 2004 [PubMed 15322102]). In kidney, SLC5A8 functions as a high-affinity sodium-coupled lactate transporter involved in reabsorption of lactate and maintenance of blood lactate levels (Thangaraju et al., 2006 [PubMed 16873376]).[supplied by OMIM, Dec 2008]
Expression: Biased expression in thyroid (RPKM 19.8), kidney (RPKM 2.8) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 12q23.1-q23.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (101155493..101210238, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (101117226..101171943, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (101549271..101604016, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of SLC5A8 as a Tumor Suppressor in Cervical Cancer.
Title: Role of SLC5A8 as a Tumor Suppressor in Cervical Cancer.
Role of hypermethylated SLC5A8 in follicular thyroid cancer diagnosis and prognosis prediction.
Title: Role of hypermethylated SLC5A8 in follicular thyroid cancer diagnosis and prognosis prediction.
Structure and mechanism of the SGLT family of glucose transporters.
Title: Structure and mechanism of the SGLT family of glucose transporters.
Lactobacillus plantarum-derived metabolites sensitize the tumor-suppressive effects of butyrate by regulating the functional expression of SMCT1 in 5-FU-resistant colorectal cancer cells.
Title: Lactobacillus plantarum-derived metabolites sensitize the tumor-suppressive effects of butyrate by regulating the functional expression of SMCT1 in 5-FU-resistant colorectal cancer cells.
miR-29a, b, and c regulate SLC5A8 expression in intestinal epithelial cells.
Title: miR-29a, b, and c regulate SLC5A8 expression in intestinal epithelial cells.
SLC5A8 regulates the biological behaviors of cervical cancer cells through mediating the Wnt signaling pathway.
Title: SLC5A8 regulates the biological behaviors of cervical cancer cells through mediating the Wnt signaling pathway.
Hypermethylated RASSF1 and SLC5A8 promoters alongside BRAF(V600E) mutation as biomarkers for papillary thyroid carcinoma.
Title: Hypermethylated RASSF1 and SLC5A8 promoters alongside BRAF(V600E) mutation as biomarkers for papillary thyroid carcinoma.
PDZRN3 may regulate SMCT1 function by interfering with the interaction between SMCT1 and PDZK1.
Title: Sodium-coupled monocarboxylate transporter 1 interacts with the RING finger- and PDZ domain-containing protein PDZRN3.
SLC5A8 expression is repressed in human cervical cancer (CC) tumors and cell lines through epigenetic silencing.
Title: Sodium-coupled monocarboxylate transporter is a target of epigenetic repression in cervical cancer.
Results indicate that the SMCT1-PDZK1 interaction thus plays an important role in both lactate handling as well as urate reabsorption in the human kidney.
Title: Identification of the multivalent PDZ protein PDZK1 as a binding partner of sodium-coupled monocarboxylate transporter SMCT1 (SLC5A8) and SMCT2 (SLC5A12).

Submit: New GeneRIF Correction See all GeneRIFs (46)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables iodide channel activity	TAS Traceable Author Statement more info
enables lactate transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables monocarboxylate:sodium symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables monocarboxylic acid transmembrane transporter activity	TAS Traceable Author Statement more info
enables organic acid:sodium symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables propionate transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in NAD biosynthesis via nicotinamide riboside salvage pathway	TAS Traceable Author Statement more info
involved_in acetate transport	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in chloride transport	IDA Inferred from Direct Assay more info	PubMed
involved_in iodide transport	IDA Inferred from Direct Assay more info	PubMed
involved_in lactate transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in lactate transport	IDA Inferred from Direct Assay more info	PubMed
involved_in monoatomic ion transport	TAS Traceable Author Statement more info
involved_in nicotinate transport	IDA Inferred from Direct Assay more info	PubMed
involved_in nitrate transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in propanoate transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in propanoate transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in pyruvate transport	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of GINS complex	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sodium-coupled monocarboxylate transporter 1

Names: apical iodide transporter; electrogenic sodium monocarboxylate cotransporter; sodium iodide-related cotransporter; solute carrier family 5 (iodide transporter), member 8; solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8

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.

mRNA and Protein(s)

NM_145913.5 → NP_666018.3 sodium-coupled monocarboxylate transporter 1

See identical proteins and their annotated locations for NP_666018.3

Status: VALIDATED

Source sequence(s)

AC079953, BC110492, DB229173

Consensus CDS

CCDS9080.1

UniProtKB/Swiss-Prot

Q2TB99, Q7Z2H9, Q8N695

UniProtKB/TrEMBL

B2R9H8

Related

ENSP00000445340.2, ENST00000536262.3

Conserved Domains (1) summary

cd11519
Location:7 → 549

SLC5sbd_SMCT1; Na(+)/monocarboxylate cotransporter SMCT1 and related proteins; solute-binding domain