1. Gene
  2. SLC18A1 - solute carrier family 18 member A1 Gene

SLC18A1 - solute carrier family 18 member A1 Gene

中文名称:溶质载体家族 18 成员 A1

种属: Homo sapiens

同用名: CGAT; VAT1; VMAT1

基因 ID: 6570 | 基因类型: protein coding

关于 SLC18A1

Cytogenetic location: 8p21.3 Genomic coordinates (GRCh38): 8:20,144,855-20,183,136 (from NCBI)

This gene has 10 transcripts (splice variants), 196 orthologues and 3 paralogues. Biased expression in adrenal (RPKM 13.1), colon (RPKM 1.0) and 1 other tissue.

功能概要

囊泡单胺转运蛋白利用在囊泡膜上保持的质子梯度,将胞质单胺积累到囊泡中。它的适当功能对于与多种人类神经精神疾病有关的单胺能系统的正确活动至关重要。转运体是重要药物的作用位点,包括利血平和丁苯那嗪 (Peter et al., 1993 [PubMed 7905859]) 。另见 SLC18A2 (MIM 193001) 。[OMIM 提供,2008 年 3 月]

The vesicular Monoamine Transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008]

SLC18A1 基因产物(4)

mRNA Protein Name
NM_001135691.3 NP_001129163.1 chromaffin granule amine transporter isoform a
NM_001142324.2 NP_001135796.1 chromaffin granule amine transporter isoform b
NM_001142325.2 NP_001135797.1 chromaffin granule amine transporter isoform c
NM_003053.4 NP_003044.1 chromaffin granule amine transporter isoform a

SLC18A1 蛋白结构

MFS_1

MFS_1: Major Facilitator Superfamily (121 - 431)

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

chromaffin granule amine transporter

solute carrier family 18 (vesicular monoamine transporter), member 1

关联疾病

疾病名称 别名
Barbiturate Abuse
Adrenal Neuroblastoma

Neuroblastoma Of Adrenal Gland

Adrenal Gland Neuroblastoma

Neuroblastoma Nos

Narcolepsy

Paroxysmal Sleep

Gelineau Syndrome

Narcoleptic Syndrome

Narcolepsy-Cataplexy Syndrome

Cataplexy And Narcolepsy

Narcolepsy, Without Cataplexy

Gelineau'S Syndrome

Narcolepsy With Or Without Cataplexy

Narcolepsy Nos

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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
Mus musculus SLC18A1 MGD MGI:106684
Bos taurus SLC18A1 VGNC VGNC:34705
Canis familiaris SLC18A1 VGNC VGNC:46255
Felis catus SLC18A1 VGNC VGNC:65226
Rattus norvegicus SLC18A1 RGD RGD:3693
Macaca mulatta SLC18A1 VGNC VGNC:77406