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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
158
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Exercise-induced hyperinsulinism Pathogenic; Likely pathogenic rs606231310, rs387906403, rs606231172, rs1570619302, rs1570623881 RCV000986394
RCV000009471
RCV000009472
RCV004761847
RCV001027697
Ketoacidosis due to monocarboxylate transporter-1 deficiency Likely pathogenic; Pathogenic rs606231311, rs606231309, rs1570619302 RCV003114292
RCV003335796
RCV000985073
Metabolic myopathy due to lactate transporter defect Likely pathogenic; Pathogenic rs606231311 RCV001542540
Monocarboxylate transporter 1 deficiency, autosomal dominant Pathogenic; Likely pathogenic rs606231300, rs606231301, rs606231302, rs606231311, rs606231312 RCV000145410
RCV000145412
RCV000145414
RCV000148038
RCV000148039
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign rs1344429, rs201021807 RCV005919979
RCV005922627
Colon adenocarcinoma Uncertain significance rs1001233585 RCV005928410
Familial cancer of breast Benign rs201021807 RCV005922625
Hepatocellular carcinoma Benign rs1344429 RCV005919976
Associations from Text MiningDisease 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