SNX27 - sorting nexin 27 Gene

中文名称：排序 nexin 27

种属: Homo sapiens

同用名: MRT1; MY014

基因 ID: 81609 | 基因类型: protein coding

关于 SNX27

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:151,612,050-151,699,080 (from NCBI)

This gene has 18 transcripts (splice variants), 271 orthologues and 2 paralogues. Ubiquitous expression in brain (RPKM 9.5), kidney (RPKM 6.7) and 25 other tissues.

功能概要

该基因编码分选连接蛋白家族的成员，这是一组不同的细胞质和膜相关蛋白，参与质膜受体的内吞作用和通过这些隔室的蛋白质运输。该蛋白家族的所有成员都包含一个磷酸肌醇结合域 (PX 域) 。小鼠中一种高度相似的蛋白质负责将血清素 5-羟色胺 4 受体的同种型特异性募集到早期核内体中，这表明人类蛋白质具有类似的作用。[RefSeq 提供，2008 年 7 月]

This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008]

SNX27 基因产物(2)

mRNA	Protein	Name
NM_001330723.2	NP_001317652.1	sorting nexin-27 isoform 1
NM_030918.6	NP_112180.4	sorting nexin-27 isoform 2

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 phosphatidylinositol-3-phosphate binding	IDA IDA: 通过直接分析推断	21300787	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	19555689	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in endocytic recycling	IMP IMP: 通过突变表型推断	20733053	GOA
involved in endosomal transport	IMP IMP: 通过突变表型推断	21300787	GOA
acts upstream of or within endosome to lysosome transport	IMP IMP: 通过突变表型推断	22411990	GOA
involved in intracellular protein transport	IMP IMP: 通过突变表型推断	20733053	GOA
involved in regulation of synapse maturation	IDA IDA: 通过直接分析推断	33330482	GOA
involved in regulation of synapse maturation	IMP IMP: 通过突变表型推断	33330482	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of WASH complex	IDA IDA: 通过直接分析推断	21602791	GOA
located in early endosome	IDA IDA: 通过直接分析推断	20733053	GOA
is active in glutamatergic synapse	IDA IDA: 通过直接分析推断	33330482	GOA
is active in glutamatergic synapse	IMP IMP: 通过突变表型推断	33330482	GOA
located in immunological synapse	IDA IDA: 通过直接分析推断	17644068	GOA
part of retromer complex	IDA IDA: 通过直接分析推断	23563491	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

SNX27 蛋白结构

PDZ

0
100
200
300
400
500
541 a.a.

蛋白主名

其他名称

sorting nexin-27

methamphetamine-responsive transcript 1

SNX27 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	SNX27	Q96L92	ACE2	Homo sapiens	Q9BYF1	Pull Down	34835087

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy	Severe Myoclonic Epilepsy In Infancy
Smei	Epileptic Encephalopathy, Early Infantile, 6
DRVT	Developmental And Epileptic Encephalopathy 6a
Dee6a	Eiee6
Developmental And Epileptic Encephalopathy, 6	Dee6
Developmental And Epileptic Encephalopathy 6	Early Infantile Epileptic Encephalopathy 6
Myoclonic Epilepsy, Severe, Of Infancy	Sme
Severe Myoclonus Epilepsy Of Infancy	Borderline Smei
Smeb	Smeb-M
Smeb-O	Smeb-Sw
Smei-Borderland	Smei-Borderland More Than One Feature
Smei-Borderland-Myoclonic Seizures	Smei-Borderland-Spike Wave
Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures	ICEGTC
Infantile Severe Myoclonic Epilepsy	Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Down Syndrome

Trisomy 21	Complete Trisomy 21 Syndrome
Down'S Syndrome	Trisomy 21 Syndrome
Down'S Syndrome - Trisomy 21	Downs Syndrome
G Trisomy	47,Xx,+21
47,Xy,+21	Trisomy G
Down Syndrome, Susceptibility To	Chromosome 21 Trisomy
Trisomy 21 Nos	Abnormal Autosomes 21

Menkes Disease

Copper Transport Disease	Menkes Syndrome
MNK	Kinky Hair Disease
Steely Hair Disease	Menkes Kinky-Hair Syndrome
Mk	Steely Hair Syndrome
Menkea Syndrome	Md
Menkes Kinky Hair Syndrome	Hypocupremia, Congenital
Kinky Hair Syndrome	X-Linked Copper Deficiency
Menkes Kinky Hair Disease

Chromosomal Duplication Syndrome

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

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-RS13537	SNX27 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	SNX27	VGNC	VGNC:35105
Felis catus	SNX27	VGNC	VGNC:107624
Rattus norvegicus	SNX27	RGD	RGD:628705
Macaca mulatta	SNX27	VGNC	VGNC:77742
Mus musculus	SNX27	MGD	MGI:1923992
Canis familiaris	SNX27	VGNC	VGNC:46634

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	站点地图隐私声明
沪ICP备15051369号-4 上海工商沪公网安备31011502019417 沪(浦)应急管危经许[2021]201709(QFYS) 营业执照（三证合一）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4