1. Gene
  2. SLC6A7 - solute carrier family 6 member 7 Gene

SLC6A7 - solute carrier family 6 member 7 Gene

中文名称:溶质载体家族 6 成员 7

种属: Homo sapiens

同用名: PROT

基因 ID: 6534 | 基因类型: protein coding

关于 SLC6A7

Cytogenetic location: 5q32 Genomic coordinates (GRCh38): 5:150,190,062-150,211,063 (from NCBI)

This gene has 3 transcripts (splice variants), 124 orthologues and 19 paralogues. Biased expression in brain (RPKM 4.6), small intestine (RPKM 0.9) and 2 other tissues.

功能概要

该基因是γ-氨基丁酸 (GABA) 神经递质基因家族的成员,编码一种高亲和力的哺乳动物脑 L-脯氨酸转运蛋白。这种转运蛋白与其他钠依赖性质膜载体的不同之处在于其药理学特异性、动力学特性和离子要求。[RefSeq 提供,2008 年 7 月]

This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from Other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008]

SLC6A7 基因产物(1)

mRNA Protein Name
NM_014228.5 NP_055043.2 sodium-dependent proline transporter
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 L-proline transmembrane transporter activity IDA
IDA: 通过直接分析推断
7651355 GOA
enables proline:sodium symporter activity IDA
IDA: 通过直接分析推断
7651355 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in proline transport IDA
IDA: 通过直接分析推断
7651355 GOA
involved in protein catabolic process EXP
EXP: 通过实验结果推断
7651355 GOA
involved in protein catabolic process IDA
IDA: 通过直接分析推断
7651355 GOA
involved in protein catabolic process IMP
IMP: 通过突变表型推断
7651355 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in synapse EXP
EXP: 通过实验结果推断
7651355 GOA
is active in synapse IDA
IDA: 通过直接分析推断
7651355 GOA
is active in synapse IMP
IMP: 通过突变表型推断
7651355 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

SLC6A7 蛋白结构

SNF

SNF: Sodium:neurotransmitter symporter family (37 - 560)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 636 a.a.
蛋白主名 其他名称

sodium-dependent proline transporter

brain-specific L-proline transporter

关联疾病

疾病名称 别名
Epiphyseal Chondrodysplasia, Miura Type

ECDM

Tall Stature-Scoliosis-Macrodactyly Of The Great Toes Syndrome

Miura Type Epiphyseal Chondrodysplasia

Tall Stature-Scoliosis-Macrodactyly Of The Halluces Syndrome

Tall Stature-Long Halluces-Multiple Extra-Epiphyses Syndrome

Chondrodysplasia, Epiphyseal, Miura Type

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1

VKCFD1

Combined Deficiency Of Vitamin K-Dependent Clotting Factors 1

Vitamin K-Dependent Coagulation Defect

Multiple Coagulation Factor Deficiency Iii

Mcfd3

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 1

Vkcfd

Familial Multiple Coagulation Factor Deficiency Iii

Fmfd Iii

Factors Ii, Vii, Ix, And X, Combined Deficiency Of

Glutamic Acid, Deficient Gamma-Carboxylation Of

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

Hyperekplexia

Hereditary Hyperekplexia

Kok Disease

Congenital Stiff Man Syndrome

Familial Startle Disease

Sthe

Stiff-Baby Syndrome

Hereditary Hyperexplexia

Startle Disease

Exaggerated Startle Reaction

Hyperexplexia Hereditary

Startle Disease, Familial

Startle Reaction, Exaggerated

Stiff-Man Syndrome, Congenital

Stiff-Person Syndrome, Congenital

Congenital Stiff-Man Syndrome

Congenital Stiff-Person Syndrome

Familial Hyperekplexia

Startle Syndrome

Stiff Baby Syndrome

Hyperekplexia, Hereditary

Stiff-Person Syndrome

Iminoglycinuria

Iminoglycinuria, Digenic

IG

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
Macaca mulatta SLC6A7 VGNC VGNC:77623
Felis catus SLC6A7 VGNC VGNC:65419
Canis familiaris SLC6A7 VGNC VGNC:46468
Bos taurus SLC6A7 VGNC VGNC:34923
Rattus norvegicus SLC6A7 RGD RGD:620928
Mus musculus SLC6A7 MGD MGI:2147363