SLC6A9 - solute carrier family 6 member 9 Gene

中文名称：溶质载体家族 6 成员 9

种属: Homo sapiens

同用名: GLYT1; GCENSG

基因 ID: 6536 | 基因类型: protein coding

关于 SLC6A9

Cytogenetic location: 1p34.1 Genomic coordinates (GRCh38): 1:43,996,483-44,031,462 (from NCBI)

This gene has 12 transcripts (splice variants), 207 orthologues, 19 paralogues and is associated with 4 phenotypes. Broad expression in skin (RPKM 13.4), adrenal (RPKM 9.7) and 18 other tissues.

功能概要

氨基酸甘氨酸在中枢神经系统中充当抑制性神经递质。由该基因编码的蛋白质是两种转运蛋白之一，通过将其从突触间隙中移除来阻止甘氨酸信号传导。[RefSeq 提供，2016 年 6 月]

The amino acid glycine acts as an inhibitory neurotransmitter in the central nervous system. The protein encoded by this gene is one of two transporters that stop glycine signaling by removing it from the synaptic cleft. [provided by RefSeq, Jun 2016]

SLC6A9 基因产物(16)

mRNA	Protein	Name
NM_001328628.1	NP_001315557.1	sodium- and chloride-dependent glycine transporter 1 isoform 7
XM_047428739.1	XP_047284695.1	sodium- and chloride-dependent glycine transporter 1 isoform X1
NM_001328626.2	NP_001315555.1	sodium- and chloride-dependent glycine transporter 1 isoform 5
XM_017002152.3	XP_016857641.1	sodium- and chloride-dependent glycine transporter 1 isoform X4
XM_047428744.1	XP_047284700.1	sodium- and chloride-dependent glycine transporter 1 isoform X6
XM_047428740.1	XP_047284696.1	sodium- and chloride-dependent glycine transporter 1 isoform X2
NM_001328630.2	NP_001315559.1	sodium- and chloride-dependent glycine transporter 1 isoform 8
XM_011542017.3	XP_011540319.1	sodium- and chloride-dependent glycine transporter 1 isoform X3
NM_201649.4	NP_964012.2	sodium- and chloride-dependent glycine transporter 1 isoform 2
NR_048548.2
NM_001328627.1	NP_001315556.1	sodium- and chloride-dependent glycine transporter 1 isoform 6
XM_047428743.1	XP_047284699.1	sodium- and chloride-dependent glycine transporter 1 isoform X5
NM_001024845.3	NP_001020016.1	sodium- and chloride-dependent glycine transporter 1 isoform 3
NM_001328629.1	NP_001315558.1	sodium- and chloride-dependent glycine transporter 1 isoform 3
NM_006934.4	NP_008865.2	sodium- and chloride-dependent glycine transporter 1 isoform 1
NM_001261380.2	NP_001248309.1	sodium- and chloride-dependent glycine transporter 1 isoform 4

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 glycine:sodium symporter activity	IDA IDA: 通过直接分析推断	8183239	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in apical plasma membrane	IDA IDA: 通过直接分析推断	11159884	GOA
located in basal plasma membrane	IDA IDA: 通过直接分析推断	11159884	GOA
located in basolateral plasma membrane	IDA IDA: 通过直接分析推断	11159884	GOA
located in lateral plasma membrane	IDA IDA: 通过直接分析推断	11159884	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

SLC6A9 蛋白结构

SNF

0
200
400
600
706 a.a.

蛋白主名

其他名称

sodium- and chloride-dependent glycine transporter 1

glyT-1

solute carrier family 6 (neurotransmitter transporter, glycine), member 9

关联疾病

疾病名称

别名

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

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 3

HKPX3

Hyperekplexia, Type 3

Atypical Glycine Encephalopathy

Atypical Nka

Atypical Non-Ketotic Hyperglycinemia

Retinitis Pigmentosa 68

RP68	Retinitis Pigmentosa, Type 68

Psychotic Disorder

Psychotic Disorders	Mental Or Behavioural Disorder
Psychotic	Mental Disorders

Schizophrenia

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

Glycine Encephalopathy With Normal Serum Glycine

GCENSG

Encephalopathy, Glycine, With Normal Serum Glycine

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 Pre-designed Sets	纯度	是否罕见病否
HY-RS13320	SLC6A9 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS13321	Slc6a9 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS13322	Slc6a9 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	SLC6A9	VGNC	VGNC:65420
Canis familiaris	SLC6A9	VGNC	VGNC:46469
Mus musculus	SLC6A9	MGD	MGI:95760
Rattus norvegicus	SLC6A9	RGD	RGD:621243
Macaca mulatta	SLC6A9	VGNC	VGNC:77625
Others	SLC6A9	NCBI

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