1. Gene
  2. SLC16A1 - solute carrier family 16 member 1 Gene

SLC16A1 - solute carrier family 16 member 1 Gene

Homo sapiens

Also known as MCT; HHF7; MCT1; MCT1D

Gene ID: 6566 | Gene type: protein coding

About SLC16A1

Cytogenetic location: 1p13.2 Genomic coordinates (GRCh38): 1:112,911,847-112,956,196 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 339 orthologues, 13 paralogues and is associated with 6 phenotypes. Broad expression in heart (RPKM 23.3), colon (RPKM 22.1) and 23 other tissues.

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 transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]

SLC16A1 Products(3)

mRNA Protein Name
XM_047428789.1 XP_047284745.1 monocarboxylate transporter 1 isoform X1
NM_001166496.2 NP_001159968.1 monocarboxylate transporter 1
NM_003051.4 NP_003042.3 monocarboxylate transporter 1

SLC16A1 Protein Structure

MFS_1

MFS_1: Major Facilitator Superfamily (27 - 406)

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Protein Preferred Names Protein Names

monocarboxylate transporter 1

MCT 1

solute carrier family 16 (monocarboxylate transporter), member 1

solute carrier family 16 (monocarboxylic acid transporters), member 1

solute carrier family 16, member 1 (monocarboxylic acid transporter 1)

Related Diseases

Diseases Alias
Hyperinsulinemic Hypoglycemia

Nesidioblastosis

Islet Cell Hyperplasia

Persistent Hyperinsulinemia Hypoglycemia Of Infancy

Hyperinsulinemic Hypoglycaemia

Diversion Colitis
Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

Hyperinsulinemic Hypoglycemia, Familial, 7

HHF7

Exercise-Induced Hyperinsulinemic Hypoglycemia

Exercise-Induced Hyperinsulinism

Familial Hyperinsulinemic Hypoglycemia 7

Eihi

Hyperinsulinism Due To Monocarboxylate Transporter 1 Deficiency

Hyperinsulinism Due To Slc16a1 Deficiency

Hyperinsulinemic Hypoglycemia, Exercise-Induced

Exercise Induced Hyperinsulinemic Hypoglycemia

Hyperinsulinemic Hypoglycemia Exercise-Induced

Hyperinsulinemic Hypoglycemia Familial 7

Hyperinsulinism

Hyperinsulinemia

Monocarboxylate Transporter 1 Deficiency

Ketoacidosis Due To Monocarboxylate Transporter-1 Deficiency

MCT1D

Ketosis

Erythrocyte Lactate Transporter Defect

Metabolic Myopathy Due To Lactate Transporter Defect

Lactate Transporter Defect, Myopathy Due To

Symptomatic Deficiency In Lactate Transport

SDLT

Asphyxia Neonatorum

Birth Asphyxia

Postnatal Asphyxia

Asphyxia - Birth

Asphyxia, In Liveborn Infant

Hypoxia Neonatorum

Hypoxia, In Liveborn Infant

Intrapartum Asphyxia

Neonatal Asphyxia

Newborn Asphyxia

Asphyxia In Liveborn Infant

Asphyxia Of Newborn Nos

Perinatal Asphyxia

Perinatal Hypoxia

Newborn Asphyxiation

Biotin Deficiency

Biotin Deficiency Disease

B7 Deficiency

Biotan Vitamin Deficiency

Hyperinsulinemic Hypoglycemia, Familial, 6

Hyperinsulinism-Hyperammonemia Syndrome

HHF6

Familial Hyperinsulinemic Hypoglycemia 6

Hi/Ha Syndrome

Ha/Hi Syndrome

Hyperinsulinemic Hypoglycemia Familial 6

Hyperinsulinism Hyperammonemia Syndrome

Hhs

Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset

Hypoglycemia

Hypoglycaemia

Low Blood Sugar

Hypoglycaemia Nos

Spontaneous Hypoglycaemia

Nondiabetic Hypoglycaemia

Hypoglycaemic Disorder Nos

Hypoglycaemic Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris SLC16A1 VGNC VGNC:46235
Macaca mulatta SLC16A1 VGNC VGNC:77395
Rattus norvegicus SLC16A1 RGD RGD:3690
Bos taurus SLC16A1 VGNC VGNC:34683
Mus musculus SLC16A1 MGD MGI:106013
Others SLC16A1 NCBI