SLC6A5 - solute carrier family 6 member 5 Gene

中文名称：溶质载体家族 6 成员 5

种属: Homo sapiens

同用名: NET1; GLYT2; HKPX3; GLYT-2

基因 ID: 9152 | 基因类型: protein coding

关于 SLC6A5

Cytogenetic location: 11p15.1 Genomic coordinates (GRCh38): 11:20,599,608-20,659,285 (from NCBI)

This gene has 3 transcripts (splice variants), 209 orthologues, 19 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码钠和氯依赖性甘氨酸神经递质转运蛋白。这种完整的膜糖蛋白负责甘氨酸介导的神经传递过程中细胞外甘氨酸的清除。这种蛋白质存在于甘氨酸能轴突中，并在甘氨酸能突触处维持大量突触前神经递质。该基因的突变会导致惊跳过度；一种以过度惊吓反应和新生儿呼吸暂停为特征的异源性神经系统疾病。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2016 年 1 月]

This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

SLC6A5 基因产物(4)

mRNA	Protein	Name
XM_017018544.3	XP_016874033.1	sodium- and chloride-dependent glycine transporter 2 isoform X1
NM_004211.5	NP_004202.4	sodium- and chloride-dependent glycine transporter 2 isoform 1
NM_001318369.2	NP_001305298.1	sodium- and chloride-dependent glycine transporter 2 isoform 2 precursor
XR_007062528.1

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 glycine:sodium symporter activity	IDA IDA: 通过直接分析推断	9845349	GOA
enables glycine:sodium symporter activity	IMP IMP: 通过突变表型推断	10606742	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in glycine import across plasma membrane	IDA IDA: 通过直接分析推断	16751771	GOA
involved in synaptic transmission, glycinergic	IMP IMP: 通过突变表型推断	16751771	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in plasma membrane	IDA IDA: 通过直接分析推断	16751771	GOA
located in plasma membrane	IMP IMP: 通过突变表型推断	31370103	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

SLC6A5 蛋白结构

SNF

0
200
400
600
797 a.a.

蛋白主名

其他名称

sodium- and chloride-dependent glycine transporter 2

norepinephrine transporter 1

solute carrier family 6 (neurotransmitter transporter, glycine), member 5

关联疾病

疾病名称

别名

Hyperekplexia 1

HKPX1	Exaggerated Startle Reaction
Sthe	Stiff-Baby Syndrome
Kok Disease	Startle Disease, Familial
Startle Reaction, Exaggerated	Stiff-Man Syndrome, Congenital
Stiff-Person Syndrome, Congenital	Congenital Stiff-Man Syndrome
Congenital Stiff-Person Syndrome	Familial Startle Disease
Hereditary Hyperexplexia 1	Hyperekplexia Hereditary 1 Autosomal Dominant Or Recessive
Hyperekplexia	Hereditary Hyperexplexia
Stiff-Person Syndrome

Cerebral Creatine Deficiency Syndrome

Deficiency, Cerebral Creatine, Syndrome

Hyperekplexia 3

HKPX3

Hyperekplexia, Type 3

Cerebral Creatine Deficiency Syndrome 1

Creatine Transporter Deficiency	Creatine Transporter Defect
Slc6a8 Deficiency	X-Linked Creatine Deficiency Syndrome
CCDS1	Creatine Deficiency Syndrome, X-Linked
X-Linked Creatine Deficiency	Creatine Deficiency, X-Linked
X-Linked Creatine Transporter Deficiency	Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia
Mental Retardation, X-Linked, With Creatine Transport Deficiency	Mental Retardation , X-Linked With Seizures, Short Stature And Midface Hypoplasia
Mental Retardation , X-Linked, With Creatine Transport Deficiency	Slc6a8-Related Creatine Transporter Deficiency
Deficiency, Cerebral Creatine, Syndrome, Type 1

Brown-Vialetto-Van Laere Syndrome 1

BVVLS1	Pontobulbar Palsy With Deafness
Bulbar Palsy, Progressive, With Sensorineural Deafness	Rfvt2-Related Riboflavin Transporter Deficiency
Rtd2	Riboflavin Transporter Deficiency 2
Bulbar Palsy Progressive With Sensorineural Deafness	Riboflavin Transporter Deficiency Type 2
Brown-Vialetto-Van Laere Syndrome, Type 1	Brown-Vialetto-Van Laere Syndrome

Brody Disease

Brody Myopathy	BROD
Sarcoplasmic Reticulum -Ca2+Atpase Deficiency	Myopathy, Brody

Periodic Limb Movement Disorder

Nocturnal Myoclonus Syndrome

Nocturnal Myoclonus

Brittle Cornea Syndrome 2

BCS2	Cornea, Brittle, Syndrome Type 2
Ehlers-Danlos Syndrome 6b	Ehlers-Danlos Syndrome Type 6

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Gnathodiaphyseal Dysplasia

GDD	Osteogenesis Imperfecta With Unusual Skeletal Lesions
Gnathodiaphyseal Sclerosis	Osteogenesis Imperfecta, Levin Type
Levin Syndrome 2	Dysplasia, Gnathodiaphyseal

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

Hyperekplexia 2

HKPX2	Autosomal Recessive Hyperekplexia 2
Hyperekplexia, Type 2

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia	Nonketotic Hyperglycinemia
NKH	GCE
Hyperglycinemia, Nonketotic	Hyperglycinemia Nonketotic
Infantile Glycine Encephalopathy	Encephalopathy, Glycine
Glycine Synthase Deficiency	Nka
Neonatal Glycine Encephalopathy	Classic Glycine Encephalopathy
Neonatal Nkh	Neonatal Non-Ketotic Hyperglycinemia
Infantile Nkh	Infantile Non-Ketotic Hyperglycinemia
Non-Ketotic Hyperglycinaemia	Glycine Cleavage Deficiency
Nonketotic Hyperglycinaemia

Hypertonia

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS13314	SLC6A5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS13315	Slc6a5 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS13316	Slc6a5 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	SLC6A5	RGD	RGD:621824
Macaca mulatta	SLC6A5	VGNC	VGNC:77621
Canis familiaris	SLC6A5	VGNC	VGNC:46466
Bos taurus	SLC6A5	VGNC	VGNC:56281
Felis catus	SLC6A5	VGNC	VGNC:65417
Mus musculus	SLC6A5	MGD	MGI:105090

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