Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6566
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 16 member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC16A1
Synonyms (NCBI Gene) Gene synonyms aliases
HHF7, MCT, MCT1, MCT1D
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT002665 hsa-miR-124-3p Luciferase reporter assay, Western blot 19427019
MIRT002665 hsa-miR-124-3p Luciferase reporter assay, Western 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 Microarray, qRT-PCR 16549876
Transcription factors
Transcription factor Regulation Reference
USF1 Unknown 15691871
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600682 10922 ENSG00000155380
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ketoacidosis ketoacidosis due to monocarboxylate transporter-1 deficiency rs1570619302, rs606231311 N/A
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY Monocarboxylate transporter 1 deficiency, autosomal dominant rs606231300, rs606231301, rs606231302, rs606231311, rs606231312 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hyperinsulinism Hyperinsulinism, Dominant, exercise-induced hyperinsulinism N/A N/A ClinVar, GenCC
Hyperopia Hyperopia N/A N/A GWAS
Metabolic Myopathy metabolic myopathy due to lactate transporter defect N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 17760565, 19597291, 26539827, 28206968, 36342616
Adenocarcinoma of Lung Associate 26539827
Alzheimer Disease Associate 38441044
Anophthalmia with pulmonary hypoplasia Associate 32633891
Arthritis Rheumatoid Associate 37304267
Barrett Esophagus Associate 28206968
Brain Diseases Associate 21081165
Brain Neoplasms Associate 22575025
Breast Neoplasms Associate 19826085, 20454640, 21177384, 22700320, 23082721, 23172368, 25415228, 27266704, 28333070, 31964840, 34471053, 35512572
Burkitt Lymphoma Associate 28385782, 9786900