1. Gene
  2. SLC17A7 - solute carrier family 17 member 7 Gene

SLC17A7 - solute carrier family 17 member 7 Gene

中文名称:溶质载体家族 17 成员 7

种属: Homo sapiens

同用名: BNPI; VGLUT1

基因 ID: 57030 | 基因类型: protein coding

关于 SLC17A7

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:49,429,401-49,441,527 (from NCBI)

This gene has 5 transcripts (splice variants), 324 orthologues and 12 paralogues. Restricted expression toward brain (RPKM 231.7).

功能概要

由该基因编码的蛋白质是一种与囊泡结合的钠依赖性磷酸盐转运蛋白,在大脑富含神经元的区域特异性表达。它优先与突触小泡的膜相关,并在谷氨酸转运中发挥作用。该蛋白质与分化相关的 Na 依赖性无机磷酸盐协同转运蛋白具有 82% 的同一性,它们似乎在 Na+/Pi 协同转运蛋白家族中形成了一个独特的类别。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a vesicle-bound, sodium-dependent phosphate transporter that is specifically expressed in the neuron-rich regions of the brain. It is preferentially associated with the membranes of synaptic vesicles and functions in glutamate transport. The protein shares 82% identity with the differentiation-associated Na-dependent inorganic phosphate cotransporter and they appear to form a distinct class within the Na+/Pi cotransporter family. [provided by RefSeq, Jul 2008]

SLC17A7 基因产物(1)

mRNA Protein Name
NM_020309.4 NP_064705.1 vesicular glutamate transporter 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables sodium:phosphate symporter activity IDA
IDA: 通过直接分析推断
10820226 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
10820226 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

SLC17A7 蛋白结构

MFS_1

MFS_1: Major Facilitator Superfamily (71 - 452)

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

vesicular glutamate transporter 1

brain-specific Na(+)-dependent inorganic phosphate cotransporter

关联疾病

疾病名称 别名
Deafness, Autosomal Dominant 25

DFNA25

Autosomal Dominant Nonsyndromic Deafness 25

Autosomal Dominant Deafness 25

Deafness, Autosomal Dominant, 25

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 25

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 25

Deafness, Autosomal Dominant, Type 25

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Neuropathy, Hereditary, With Liability To Pressure Palsies

Tomaculous Neuropathy

Hereditary Neuropathy With Liability To Pressure Palsies

HNPP

Polyneuropathy, Familial Recurrent

Neuropathy, Recurrent, With Pressure Palsies

Current Pressure-Sensitive Neuropathy

Familial Recurrent Polyneuropathy

Heterozygous Microdeletion 17p11.2p12

Potato-Grubbing Palsy

Tulip-Bulb Digger'S Palsy

Compression Neuropathy

Entrapment Neuropathy

Familial Pressure Sensitive Neuropathy

Hereditary Motor And Sensory Neuropathy

Hereditary Pressure Sensitive Neuropathy

Inherited Tendency To Pressure Palsies

Hereditary Liability To Pressure Palsies

Nerve Compression Syndrome

Entrapment Neuropathies

Hereditary Motor And Sensory Neuropathies

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders

Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

Wilson-Turner Syndrome

WTS

Mrxs6

X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome

Mrxswt

Wilson-Turner X-Linked Mental Retardation Syndrome

Mental Retardation, X-Linked, Syndromic 6

Mental Retardation, X-Linked, With Gynecomastia And Obesity

Intellectual Disability, X-Linked, Syndromic 6

Intellectual Disability, X-Linked, With Gynecomastia And Obesity

Wilson Turner Intellectual Disability Syndrome

X-Linked Intellectual Disability - Gynecomastia - Obesity

Syndromic Intellectual Disability
Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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 SLC17A7 VGNC VGNC:46252
Felis catus SLC17A7 VGNC VGNC:65223
Bos taurus SLC17A7 VGNC VGNC:34702
Rattus norvegicus SLC17A7 RGD RGD:620101
Macaca mulatta SLC17A7 VGNC VGNC:77495
Mus musculus SLC17A7 MGD MGI:1920211