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

SLC16A1 - solute carrier family 16 member 1 Gene

中文名称:溶质载体家族 16 成员 1

种属: Homo sapiens

同用名: MCT; HHF7; MCT1; MCT1D

基因 ID: 6566 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是一种质子连接的单羧酸盐转运蛋白,可催化许多单羧酸盐 (例如乳酸和丙酮酸盐) 穿过质膜的运动。该基因的突变与红细胞乳酸转运蛋白缺陷有关。已发现该基因的可变剪接转录本变体。[RefSeq 提供,2009 年 10 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables lactate:proton symporter activity IDA
IDA: 通过直接分析推断
12946269 GOA
enables monocarboxylic acid transmembrane transporter activity IDA
IDA: 通过直接分析推断
25371203 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10921872 GOA
enables succinate transmembrane transporter activity IDA
IDA: 通过直接分析推断
32946811 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in centrosome cycle IMP
IMP: 通过突变表型推断
23816619 GOA
involved in monocarboxylic acid transport IDA
IDA: 通过直接分析推断
25371203 GOA
involved in succinate transmembrane transport IDA
IDA: 通过直接分析推断
32946811 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apical plasma membrane IDA
IDA: 通过直接分析推断
15901598 GOA
located in basal plasma membrane IDA
IDA: 通过直接分析推断
26854723 GOA
located in centrosome IDA
IDA: 通过直接分析推断
23816619 GOA
located in lateral plasma membrane IDA
IDA: 通过直接分析推断
26854723 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
15505343 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SLC16A1 蛋白结构

MFS_1

MFS_1: Major Facilitator Superfamily (27 - 406)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500 a.a.
蛋白主名 其他名称

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)

SLC16A1 抗体

目录号 产品名 应用 反应物种
HY-P83499 Monocarboxylic Acid Transporter 1 Antibody (YA3244) WB Human
HY-P83499A Monocarboxylic Acid Transporter 1 Antibody (YA3244)(PBS only) WB Human

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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