SLC16A11 solute carrier family 16 member 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC16A11provided by HGNC
Official Full Name: solute carrier family 16 member 11provided by HGNC
Primary source: HGNC:HGNC:23093
See related: Ensembl:ENSG00000174326 MIM:615765; AllianceGenome:HGNC:23093
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: MCT11; MCT 11
Summary: Enables pyruvate transmembrane transporter activity. Involved in lipid metabolic process. Located in endoplasmic reticulum membrane and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in kidney (RPKM 1.1), lung (RPKM 1.1) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (7041621..7044092, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (6942295..6944766, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (6944940..6947411, complement)

Chromosome 17 - NC_000017.11 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?

Epistasis Between HLA-DRB1*16:02:01 and SLC16A11 T-C-G-T-T Reduces Odds for Type 2 Diabetes in Southwest American Indians.
Title: Epistasis Between HLA-DRB1*16:02:01 and SLC16A11 T-C-G-T-T Reduces Odds for Type 2 Diabetes in Southwest American Indians.
Downregulation of SLC16A11 is Present in Offspring of Mothers with Gestational Diabetes.
Title: Downregulation of SLC16A11 is Present in Offspring of Mothers with Gestational Diabetes.
Genetic variants in the SLC16A11 gene are associated with increased BMI and insulin levels in nondiabetic Chilean population.
Title: Genetic variants in the SLC16A11 gene are associated with increased BMI and insulin levels in nondiabetic Chilean population.
The association between SLC16A11 haplotype and lipid metabolism in Japanese patients with type 2 diabetes.
Title: The association between SLC16A11 haplotype and lipid metabolism in Japanese patients with type 2 diabetes.
Mouse model carrying the reconstituted T2D risk haplotype of human SLC16A11 displays elevated blood and liver triglycerides, glucose intolerance, insulin resistance, and increased levels of lipin 1 protein in the liver in response to a high-fat diet. Human LPIN1 levels are increased in HepG2 cells overexpressing the mutant SLC16A11.
Title: Gain-of-Function Mutations of SLC16A11 Contribute to the Pathogenesis of Type 2 Diabetes.
The T2D risk haplotype in the SLC16A11 region includes a cis-eQTL that decreases SLC16A11 expression in a dose-dependent manner in liver tissue.
Title: Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms.
Mouse model carrying the reconstituted T2D risk haplotype of SLC16A11 displays elevated blood and liver triglycerides, glucose intolerance, insulin resistance, and increased levels of lipin 1 protein in the liver in response to a high-fat diet. Human LPIN1 levels are increased in HepG2 cells overexpressing the mutant SLC16A11.
Title: Gain-of-Function Mutations of SLC16A11 Contribute to the Pathogenesis of Type 2 Diabetes.
The previously reported effects of SLC16A11 variants shown to be associated with diabetes in Mexicans was replicated in a large Mexican-American sample, but these effects were not significant in five non-Mexican Hispanic/Latino groups sampled from U.S. populations.
Title: Associations between SLC16A11 variants and diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL).
Individuals carrying the SLC16A11 risk haplotype exhibited decreased insulin action. Higher serum ALT and GGT levels were found in carriers with type 2 diabetes, and larger adipocytes in subcutaneous fat in the size distribution in carrier women with normal weight.
Title: The SLC16A11 risk haplotype is associated with decreased insulin action, higher transaminases and large-size adipocytes.
rs13342232 might be involved in the risk of pediatric-onset type 2 diabetes in Mexican families
Title: Associations of common variants in the SLC16A11, TCF7L2, and ABCA1 genes with pediatric-onset type 2 diabetes and related glycemic traits in families: A case-control and case-parent trio study.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico. 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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables monocarboxylic acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables pyruvate transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in lipid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in pyruvate transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: monocarboxylate transporter 11

Names: monocarboxylic acid transporter 11; solute carrier family 16 (monocarboxylic acid transporters), member 11

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_001370549.1 → NP_001357478.1 monocarboxylate transporter 11 isoform 1

Status: VALIDATED

Source sequence(s)

AC040977

Consensus CDS

CCDS11086.2

UniProtKB/Swiss-Prot

Q8NCK7

UniProtKB/TrEMBL

A0A590UJX4, I3L431

Related

ENSP00000460927.2, ENST00000574600.3

Conserved Domains (1) summary

cl28910
Location:14 → 403

MFS; Major Facilitator Superfamily
NM_001370553.1 → NP_001357482.1 monocarboxylate transporter 11 isoform 2

Status: VALIDATED

Source sequence(s)

AC040977

Consensus CDS

CCDS92241.1

UniProtKB/TrEMBL

A0A669KBK5

Related

ENSP00000501313.1, ENST00000673828.2

Conserved Domains (1) summary

cl28910
Location:14 → 372

MFS; Major Facilitator Superfamily
NM_153357.3 → NP_699188.2 monocarboxylate transporter 11 isoform 1

Status: VALIDATED

Source sequence(s)

AC040977

Consensus CDS

CCDS11086.2

UniProtKB/Swiss-Prot

Q8NCK7

UniProtKB/TrEMBL

A0A590UJX4, I3L431

Related

ENSP00000499634.1, ENST00000662352.3

Conserved Domains (1) summary

cl28910
Location:14 → 403

MFS; Major Facilitator Superfamily