1. Gene
  2. SNX3 - sorting nexin 3 Gene

SNX3 - sorting nexin 3 Gene

中文名称:排序 nexin 3

种属: Homo sapiens

同用名: SDP3; Grd19; MCOPS8

基因 ID: 8724 | 基因类型: protein coding

关于 SNX3

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:108,211,222-108,261,040 (from NCBI)

This gene has 4 transcripts (splice variants), 222 orthologues, 15 paralogues and is associated with 1 phenotype. Ubiquitous expression in fat (RPKM 95.7), adrenal (RPKM 90.6) and 25 other tissues.

功能概要

该基因编码分选连接蛋白家族的一个成员。该家族的成员包含一个 phox (PX) 结构域,它是一个磷酸肌醇结合结构域,并参与细胞内运输。与大多数家族成员一样,这种蛋白质不包含卷曲螺旋区域。这种蛋白质与 phosphatidylinositol-3-phosphate 相互作用,并参与蛋白质运输。该基因的假基因存在于性染色体上。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2014 年 7 月]

This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like most family members. This protein interacts with phosphatidylinositol-3-phosphate, and is involved in protein trafficking. A pseudogene of this gene is present on the sex chromosomes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

SNX3 基因产物(4)

mRNA Protein Name
NM_001300928.2 NP_001287857.1 sorting nexin-3 isoform c
NM_001300929.2 NP_001287858.1 sorting nexin-3 isoform d
NM_003795.6 NP_003786.1 sorting nexin-3 isoform a
NM_152827.4 NP_690040.1 sorting nexin-3 isoform b
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
11433298 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17474147 GOA
enables protein phosphatase binding IPI
IPI: 通过物理相互作用推断
17622474 GOA
enables retromer complex binding IDA
IDA: 通过直接分析推断
30213940 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intralumenal vesicle formation IMP
IMP: 通过突变表型推断
18767904 GOA
involved in membrane invagination IDA
IDA: 通过直接分析推断
18767904 GOA
involved in negative regulation of early endosome to late endosome transport IDA
IDA: 通过直接分析推断
18767904 GOA
involved in negative regulation of phagocytosis IMP
IMP: 通过突变表型推断
23237080 GOA
involved in negative regulation of protein catabolic process IDA
IDA: 通过直接分析推断
18767904 GOA
involved in negative regulation of protein transport IDA
IDA: 通过直接分析推断
18767904 GOA
involved in negative regulation of viral entry into host cell IDA
IDA: 通过直接分析推断
18767904 GOA
involved in protein to membrane docking IDA
IDA: 通过直接分析推断
24344282 GOA
involved in regulation of Wnt signaling pathway IMP
IMP: 通过突变表型推断
21725319 GOA
involved in response to bacterium IDA
IDA: 通过直接分析推断
20482551 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in clathrin-coated vesicle IDA
IDA: 通过直接分析推断
21725319 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
11279102 GOA
located in cytosol IDA
IDA: 通过直接分析推断
9819414 GOA
located in early endosome IDA
IDA: 通过直接分析推断
11433298 GOA
located in early endosome membrane IDA
IDA: 通过直接分析推断
18767904 GOA
located in early phagosome IDA
IDA: 通过直接分析推断
23237080 GOA
located in endosome membrane IDA
IDA: 通过直接分析推断
15673616 GOA
part of retromer complex IDA
IDA: 通过直接分析推断
21725319 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

SNX3 蛋白结构

PX

PX: PX domain (27 - 147)

  • 0
  • 100
  • 162 a.a.
蛋白主名 其他名称

sorting nexin-3

sorting nexin 3A

SNX3 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
SNX3 O60493 RPRM Homo sapiens Q9NS64
Y2H Prey Pooling
32296183
种属内
SNX3 O60493 RPRM Homo sapiens Q9NS64
Validated Y2H
32296183
种属内
SNX3 O60493 RPRM Homo sapiens Q9NS64
Y2H Array
32296183
种属内
SNX3 O60493 ARL6IP1 Homo sapiens Q15041
Validated Y2H
25416956
种属内
SNX3 O60493 ARL6IP1 Homo sapiens Q15041
Y2H Array
25416956
种属内
SNX3 O60493 CRK Homo sapiens P46108
Peptide Array
17474147
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
Microphthalmia, Syndromic 8

MCOPS8

Mmep Syndrome

Mmep

Syndromic Microphthalmia Type 8

Viljoen-Smart Syndrome

Microcephaly, Microphthalmia, Ectrodactyly Of Lower Limbs, And Prognathism

Syndromic Microphthalmia 8

Microcephaly-Microphthalmia-Ectrodactyly Of Lower Limbs-Prognathism Syndrome

Microphthalmia Syndromic 8

Microcephaly Microphthalmia Ectrodactyly Of Lower Limbs And Prognathism

Viljoen Smart Syndrome

Microphthalmia, Syndromic, 8

Microcephaly, Microphthalmia, Ectrodactyly Of Lower Limbs And Prognathism

Syndromic Microphthalmia

Microphthalmia, Syndromic

Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye

Fraser Syndrome 2

FRASRS2

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

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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
Macaca mulatta SNX3 VGNC VGNC:77683
Rattus norvegicus SNX3 RGD RGD:1595151
Canis familiaris SNX3 VGNC VGNC:46636
Bos taurus SNX3 VGNC VGNC:35107
Mus musculus SNX3 MGD MGI:1860188