Gene Gene information from NCBI Gene database.
Entrez ID 6566
Gene name Solute carrier family 16 member 1
Gene symbol SLC16A1
Synonyms (NCBI Gene)
HHF7MCTMCT1MCT1D
Chromosome 1
Chromosome location 1p13.2
Summary The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate
SNPs SNP information provided by dbSNP.
11
SNP ID Visualize variation Clinical significance Consequence
rs72552271 C>T Uncertain-significance, pathogenic Missense variant, coding sequence variant
rs80358222 T>C Pathogenic Missense variant, coding sequence variant
rs606231299 G>A,T Pathogenic Stop gained, coding sequence variant, synonymous variant
rs606231300 G>A Pathogenic Stop gained, coding sequence variant
rs606231301 C>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
483
miRTarBase ID miRNA Experiments Reference
MIRT002665 hsa-miR-124-3p Luciferase reporter assayWestern blot 19427019
MIRT002665 hsa-miR-124-3p Luciferase reporter assayWestern blot 19427019
MIRT001745 hsa-miR-376a-5p Luciferase reporter assay 17322061
MIRT001745 hsa-miR-376a-5p Luciferase reporter assay 17322061
MIRT002665 hsa-miR-124-3p MicroarrayqRT-PCR 16549876
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
USF1 Unknown 15691871
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
64
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 10921872, 32814053
GO:0005813 Component Centrosome IDA 23816619
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 15505343, 23137377, 24390345, 25371203, 25957687, 28112518
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600682 10922 ENSG00000155380
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P53985
Protein name Monocarboxylate transporter 1 (MCT 1) (Solute carrier family 16 member 1)
Protein function Bidirectional proton-coupled monocarboxylate transporter (PubMed:12946269, PubMed:32946811, PubMed:33333023). Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, acetate and the ketone bod
PDB 6LYY , 6LZ0 , 7CKO , 7CKR , 7DA5 , 7YR5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07690 MFS_1 22 406 Major Facilitator Superfamily Family
PF07690 MFS_1 331 484 Major Facilitator Superfamily Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:12115955, PubMed:15505343, PubMed:15901598). Detected in heart and in blood lymphocytes and monocytes (at protein level) (PubMed:15505343). {ECO:0000269|PubMed:12115955, ECO:0000269|PubMed:15505343, ECO:0000269
Sequence
Sequence length 500
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Efferocytosis   Basigin interactions
Proton-coupled monocarboxylate transport
Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT)
Pyruvate metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Exercise-induced hyperinsulinism Pathogenic; Likely pathogenic rs606231310, rs387906403, rs606231172, rs1570619302, rs1570623881 RCV000986394
RCV000009471
RCV000009472
RCV004761847
RCV001027697
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ketoacidosis due to monocarboxylate transporter-1 deficiency Likely pathogenic; Pathogenic rs606231311, rs606231309, rs1570619302 RCV003114292
RCV003335796
RCV000985073
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Metabolic myopathy due to lactate transporter defect Likely pathogenic; Pathogenic rs606231311 RCV001542540
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monocarboxylate transporter 1 deficiency, autosomal dominant Pathogenic; Likely pathogenic rs606231300, rs606231301, rs606231302, rs606231311, rs606231312 RCV000145410
RCV000145412
RCV000145414
RCV000148038
RCV000148039
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 26539827, 26563366, 28206968
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 28206968
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 31040927
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26539827
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 19789340, 28385782, 29534146, 30790227
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 19427019
★☆☆☆☆
Found in Text Mining only
Adult Rickets Rickets BEFREE 28858396
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 38441044 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 26765963, 30355947
★☆☆☆☆
Found in Text Mining only
Anophthalmia with pulmonary hypoplasia Anophthalmia Pubtator 32633891 Associate
★☆☆☆☆
Found in Text Mining only