1. Gene
  2. SLC7A8 - solute carrier family 7 member 8 Gene

SLC7A8 - solute carrier family 7 member 8 Gene

中文名称:溶质载体家族 7 成员 8

种属: Homo sapiens

同用名: LAT2; LPI-PC1

基因 ID: 23428 | 基因类型: protein coding

关于 SLC7A8

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:23,125,295-23,183,660 (from NCBI)

This gene has 13 transcripts (splice variants), 258 orthologues and 12 paralogues. Broad expression in kidney (RPKM 77.2), prostate (RPKM 18.0) and 18 other tissues.

功能概要

启用多种功能,包括中性氨基酸跨膜转运蛋白活性;甲状腺激素跨膜转运体活性;和毒素跨膜转运蛋白活性。参与 L-丙氨酸跨质膜输入; L-亮氨酸跨质膜导入;和甲状腺激素的运输。位于质膜。基底外侧质膜和微绒毛膜的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables several functions, including neutral amino acid transmembrane transporter activity; thyroid hormone transmembrane transporter activity; and toxin transmembrane transporter activity. Involved in L-alanine import across plasma membrane; L-leucine import across plasma membrane; and thyroid hormone transport. Located in plasma membrane. Part of basolateral plasma membrane and microvillus membrane. [provided by Alliance of Genome Resources, Apr 2022]

SLC7A8 基因产物(4)

mRNA Protein Name
NM_001267036.1 NP_001253965.1 large neutral amino acids transporter small subunit 2 isoform c
NM_001267037.2 NP_001253966.1 large neutral amino acids transporter small subunit 2 isoform d
NM_012244.4 NP_036376.2 large neutral amino acids transporter small subunit 2 isoform a
NM_182728.3 NP_877392.1 large neutral amino acids transporter small subunit 2 isoform b
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in L-alanine import across plasma membrane IGI
IGI: 通过遗传相互作用推断
10391915 GOA
involved in L-leucine import across plasma membrane IDA
IDA: 通过直接分析推断
19075510 GOA
involved in L-leucine import across plasma membrane IGI
IGI: 通过遗传相互作用推断
10391915 GOA
involved in L-leucine import across plasma membrane IMP
IMP: 通过突变表型推断
26050671 GOA
involved in amino acid import across plasma membrane IDA
IDA: 通过直接分析推断
26305885 GOA
involved in amino acid transport IDA
IDA: 通过直接分析推断
10391915 GOA
involved in neutral amino acid transport IDA
IDA: 通过直接分析推断
11847106 GOA
involved in thyroid hormone transport IDA
IDA: 通过直接分析推断
26305885 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in basal plasma membrane IDA
IDA: 通过直接分析推断
26050671 GOA
located in basolateral plasma membrane IDA
IDA: 通过直接分析推断
15918515 GOA
located in microvillus membrane IDA
IDA: 通过直接分析推断
26050671 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
10391915 GOA
located in plasma membrane IGI
IGI: 通过遗传相互作用推断
10391915 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

SLC7A8 蛋白结构

AA_permease_2

AA_permease_2: Amino acid permease (40 - 441)

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

large neutral amino acids transporter small subunit 2

L-type amino acid transporter 2

SLC7A8 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra SLC7A8 Q9UHI5 FKBP1A Homo sapiens Q0VDC6
Validated Y2H
32814053
Intra SLC7A8 Q9UHI5 FKBP1A Homo sapiens Q0VDC6
Y2H Pooling
32814053
Intra SLC7A8 Q9UHI5 FKBP1A Homo sapiens Q0VDC6
Y2H Array
32814053
Intra SLC7A8 Q9UHI5 AQP6 Homo sapiens Q13520
Y2H Array
32296183
Intra SLC7A8 Q9UHI5 AQP6 Homo sapiens Q13520
Y2H Prey Pooling
32296183
Intra SLC7A8 Q9UHI5 ERN1 Homo sapiens O75460-2
Y2H Pooling
32814053
Intra SLC7A8 Q9UHI5 ERN1 Homo sapiens O75460-2
Validated Y2H
32814053
Intra SLC7A8 Q9UHI5 ERN1 Homo sapiens O75460-2
Y2H Array
32814053
Intra SLC7A8 Q9UHI5 FGFR3 Homo sapiens P22607
Y2H Pooling
32814053
Intra SLC7A8 Q9UHI5 FGFR3 Homo sapiens P22607
Validated Y2H
32814053
Intra SLC7A8 Q9UHI5 FGFR3 Homo sapiens P22607
Y2H Array
32814053
Intra SLC7A8 Q9UHI5 GSN Homo sapiens P06396
Validated Y2H
32814053
Intra SLC7A8 Q9UHI5 GSN Homo sapiens P06396
Y2H Pooling
32814053
Intra SLC7A8 Q9UHI5 GSN Homo sapiens P06396
Y2H Array
32814053
Intra SLC7A8 Q9UHI5 HSPA5 Homo sapiens P11021
Y2H Pooling
32814053
Intra SLC7A8 Q9UHI5 HSPA5 Homo sapiens P11021
Validated Y2H
32814053
Intra SLC7A8 Q9UHI5 HSPA5 Homo sapiens P11021
Y2H Array
32814053
Intra SLC7A8 Q9UHI5 HSPA2 Homo sapiens P54652
Y2H Pooling
32814053
Intra SLC7A8 Q9UHI5 HSPA2 Homo sapiens P54652
Validated Y2H
32814053
Intra SLC7A8 Q9UHI5 HSPA2 Homo sapiens P54652
Y2H Array
32814053
Intra SLC7A8 Q9UHI5 YIPF6 Homo sapiens Q96EC8
Y2H Prey Pooling
32296183
Intra SLC7A8 Q9UHI5 REEP4 Homo sapiens Q9H6H4
Y2H Prey Pooling
32296183
Intra SLC7A8 Q9UHI5 REEP4 Homo sapiens Q9H6H4
Y2H Array
32296183
Intra SLC7A8 Q9UHI5 YIPF1 Homo sapiens Q9Y548
Validated Y2H
32296183
Intra SLC7A8 Q9UHI5 TMEM14B Homo sapiens Q9NUH8
Y2H Array
32296183
Intra SLC7A8 Q9UHI5 TMEM14B Homo sapiens Q9NUH8
Y2H Prey Pooling
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Lysinuric Protein Intolerance

LPI

Dibasic Amino Aciduria Ii

Hyperdibasic Aminoaciduria

Dibasic Aminoaciduria 2

Dibasicamino Aciduria Ii

Congenital Lysinuria

Lpi - Lysinuric Protein Intolerance

Cystinuria

CSNU

Cystinuria Type B

Cystinuria Type A

Cystinuria, Type I, Formerly

Csnu1, Formerly

Cystinuria, Type Ii, Formerly

Cystinuria, Type Iii, Formerly

Csnu3, Formerly

Cystinuria, Type Non-I, Formerly

Cystinuria-Lysinuria

Cystinuria-Lysinuria Syndrome

Csnu1

Csnu3

Cystinuria 1

Cystinuria Type A/B

Cystinuria Type I

Cystinuria Type Ii

Cystinuria Type Iii

Cystinuria Type Non-I

Cystinuria, Type A/B

Cystinuria Type 1

Cystinuria - Lysinuria

Csnu - [Cystinuria]

Cystine Disease

Granulomatous Disease, Chronic, Autosomal Recessive, 2

Chronic Granulomatous Disease Due To Deficiency Of Ncf-2

CGD2

Ncf2 Deficiency

P67-Phox Deficiency

Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Ii

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 2

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii

Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii

Granulomatous Disease, Chronic, Due To Ncf2 Deficiency

Neutrophil Cytosol Factor 2 Deficiency

Chronic Granulomatous Disease 2, Autosomal Recessive

Autosomal Recessive Chronic Granulomatous Disease 2

Cdg2

Deficiency Of Ncf2

Deficiency Of P67-Phox

Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii

Deficiency Of Neutrophil Cytosol Factor 2

Avellino Corneal Dystrophy

Allan-Herndon-Dudley Syndrome

AHDS

Allan-Herndon Syndrome

Monocarboxylate Transporter 8 Deficiency

MCT8 DEFICIENCY

Mental Retardation, X-Linked, With Hypotonia

Triiodothyronine Resistance

T3 Resistance

Mental Retardation And Muscular Atrophy

Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency

Intellectual Disability And Muscular Atrophy

Monocarboxylate Transporter-8 Deficiency

T3 Resisitence

Triiodothyronine Resistence

X-Linked Intellectual Disability With Hypotonia

Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency

Monocarboxylate Transporter 8 Deficiency

X-Linked Intellectual Disability-Hypotonia Syndrome

Hartnup Disorder

Hartnup Disease

HND

Neutral 1 Amino Acid Transport Defect

Neutral Amino Acid Transport Defect

Deficiency Of Tryptophan Oxygenase

Hartnup'S Disease

Aminoaciduria, Hartnup Type

Disorder Of Neutral Amino Acid Transport

Persistent Fetal Circulation Syndrome

Persistent Fetal Circulation

Fetal Circulation

Persistent Pulmonary Hypertension Of The Newborn

Congenital Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins

Persistent Foetal Circulation

Persistent Foetal Circulation Syndrome

Pfc - [Persistent Fetal Circulation] Syndrome

Pphn - [Persistent Pulmonary Hypertension Of The Newborn]

Newborn Pulmonary Hypertension

Primary Pulmonary Hypertension Of Newborn

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

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
Rattus norvegicus SLC7A8 RGD RGD:619904
Mus musculus SLC7A8 MGD MGI:1355323
Macaca mulatta SLC7A8 VGNC VGNC:77632
Canis familiaris SLC7A8 VGNC VGNC:46478
Felis catus SLC7A8 VGNC VGNC:80842
Bos taurus SLC7A8 VGNC VGNC:34933