GediPNet logo

SLC16A1 (solute carrier family 16 member 1)
Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6566
Gene nameGene Name - the full gene name approved by the HGNC.
Solute carrier family 16 member 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SLC16A1
SynonymsGene synonyms aliases
HHF7, MCT, MCT1, MCT1D
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p13.2
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Transcription factor Regulation Reference
USF1 Unknown 15691871
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25957687
GO:0005813 Component Centrosome IDA 23816619
GO:0005886 Component Plasma membrane IDA 23137377, 24390345, 25371203, 25957687, 28112518
GO:0005886 Component Plasma membrane ISS
GO:0005886 Component Plasma membrane TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence
Sequence length 500
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Efferocytosis   Basigin interactions
Proton-coupled monocarboxylate transport
Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT)
Pyruvate metabolism
Associated diseases
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Colonic neoplasms Malignant tumor of colon, Colonic Neoplasms rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 11953883
Hyperinsulinemic hypoglycemia Congenital Hyperinsulinism, Hyperinsulinemic hypoglycemia, familial, 7, Hyperinsulinemic hypoglycemia rs137853103, rs2126234459, rs104894237, rs267607196, rs387906407, rs151344623, rs28936370, rs28938469, rs28936371, rs137852671, rs137852672, rs72559723, rs193922400, rs137852676, rs193922402, rs980458021, rs375717077, rs786200932, rs587783169, rs72559713, rs72559716, rs786204542, rs541269678, rs570388861, rs72559722, rs786204676, rs151344624, rs797045637, rs797045212, rs797045211, rs797045207, rs797045213, rs761749884, rs863225280, rs139964066, rs886039877, rs886041392, rs886041391, rs746480424, rs1057516281, rs1057516317, rs576684889, rs764613146, rs773306994, rs1057516946, rs1057517139, rs1057516591, rs201682634, rs766891274, rs193922405, rs72559715, rs769518471, rs757171524, rs139328569, rs768951263, rs72559718, rs1260178539, rs200670692, rs72559734, rs1554910610, rs1554924035, rs372307320, rs1446306735, rs925231098, rs1554913069, rs1554923999, rs765090096, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1554949176, rs1411638309, rs1008906426, rs758844607, rs1554924540, rs755259997, rs769569410, rs72559730, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1398546361, rs781617345 17701893
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Ketoacidosis Ketoacidosis due to monocarboxylate transporter-1 deficiency rs606231299, rs606231311, rs1570619302
Unknown
Disease name Disease term dbSNP ID References
Erythrocyte lactate transporter defect Erythrocyte Lactate Transporter Defect 12502513, 10590411
Hypoglycemic coma Hypoglycemic coma
Hypoglycemic seizures Hypoglycemic seizures
Ketonuria Ketonuria

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412