SLC16A8 solute carrier family 16 member 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC16A8provided by HGNC
Official Full Name: solute carrier family 16 member 8provided by HGNC
Primary source: HGNC:HGNC:16270
See related: Ensembl:ENSG00000100156 MIM:610409; AllianceGenome:HGNC:16270
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: MCT3; REMP
Summary: SLC16A8 is a member of a family of proton-coupled monocarboxylate transporters that mediate lactate transport across cell membranes (Yoon et al., 1999 [PubMed 10493836]).[supplied by OMIM, Apr 2010]
Expression: Broad expression in prostate (RPKM 2.1), testis (RPKM 0.9) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (38078137..38084184, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (38539760..38545772, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (38474144..38480191, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

A Splice Variant in SLC16A8 Gene Leads to Lactate Transport Deficit in Human iPS Cell-Derived Retinal Pigment Epithelial Cells.
Title: A Splice Variant in SLC16A8 Gene Leads to Lactate Transport Deficit in Human iPS Cell-Derived Retinal Pigment Epithelial Cells.
The expression level of LIPC, SLC16A8, and TIMP-3 was significantly associated with age-related macular degeneration pathology.
Title: Serum Levels of TIMP-3, LIPC, IER3, and SLC16A8 in CFH-Negative AMD Cases.
Observational study of gene-disease association. (HuGE Navigator)
Title: L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Seven new loci associated with age-related macular degeneration. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

SHGC-132435 (e-PCR)
- UniSTS:170839

Slc16a8 (e-PCR), detects polymorphism
- UniSTS:461935

Slc16a8 (e-PCR), detects polymorphism
- UniSTS:461936

NoName (e-PCR)
- UniSTS:485822

SLC16A8_4325 (e-PCR)
- UniSTS:463313

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables lactate transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
enables monocarboxylic acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in lactate transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in lactate transport	TAS Traceable Author Statement more info	PubMed
involved_in monocarboxylic acid transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: monocarboxylate transporter 3

Names: MCT 3; solute carrier 16 (monocarboxylic acid transporters), member 8; solute carrier family 16 (monocarboxylate transporter), member 8; solute carrier family 16, member 8 (monocarboxylic acid transporter 3)

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_001394131.1 → NP_001381060.1 monocarboxylate transporter 3 isoform 2

Status: VALIDATED

Source sequence(s)

AL031587

Related

ENST00000469516.5

Conserved Domains (1) summary

TIGR00892
Location:1 → 34

2A0113; monocarboxylate transporter 1
NM_013356.3 → NP_037488.2 monocarboxylate transporter 3 isoform 1

See identical proteins and their annotated locations for NP_037488.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL031587

Consensus CDS

CCDS13966.1

UniProtKB/Swiss-Prot

O95907, Q9UBE2

Related

ENSP00000506669.1, ENST00000681075.2

Conserved Domains (2) summary

cd06174
Location:19 → 429

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR00892
Location:1 → 460

2A0113; monocarboxylate transporter 1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

38078137..38084184 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017028685.2 → XP_016884174.1 monocarboxylate transporter 3 isoform X1

UniProtKB/Swiss-Prot

O95907, Q9UBE2

Conserved Domains (2) summary

cd06174
Location:19 → 429

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

TIGR00892
Location:1 → 460

2A0113; monocarboxylate transporter 1