1. Gene
  2. SNX6 - sorting nexin 6 Gene

SNX6 - sorting nexin 6 Gene

中文名称:排序 nexin 6

种属: Homo sapiens

同用名: TFAF2; MSTP010

基因 ID: 58533 | 基因类型: protein coding

关于 SNX6

Cytogenetic location: 14q13.1 Genomic coordinates (GRCh38): 14:34,561,093-34,630,148 (from NCBI)

This gene has 11 transcripts (splice variants), 225 orthologues and 15 paralogues. Ubiquitous expression in placenta (RPKM 36.9), duodenum (RPKM 33.6) 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。这种蛋白质与瘦素受体的长亚型、受体丝氨酸-苏氨酸激酶的转化生长因子-β 家族以及血小板衍生生长因子、胰岛素和表皮生长因子的受体酪氨酸激酶相关。这种蛋白质可能通过分子的 PX 结构域和卷曲螺旋区域的相互作用与家族成员蛋白质形成寡聚复合物。在与前病毒整合位点 1 蛋白结合后,该蛋白从细胞质易位到细胞核。该基因产生两个转录本,编码两个不同的亚型。[RefSeq 提供,2008 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 associates with the long isoform of the Leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with Receptor Tyrosine Kinases for platelet-derived growth factor, Insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms. [provided by RefSeq, Jul 2008]

SNX6 基因产物(3)

mRNA Protein Name
NM_001366519.1 NP_001353448.1 sorting nexin-6 isoform c
NM_021249.5 NP_067072.3 sorting nexin-6 isoform a
NM_152233.4 NP_689419.3 sorting nexin-6 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 dynactin binding IDA
IDA: 通过直接分析推断
19619496 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11278302 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
11279102 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to amyloid-beta IGI
IGI: 通过遗传相互作用推断
27541017 GOA
involved in intracellular protein transport IMP
IMP: 通过突变表型推断
19935774 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
11279102 GOA
involved in negative regulation of neuron apoptotic process IGI
IGI: 通过遗传相互作用推断
27541017 GOA
involved in negative regulation of transforming growth factor beta receptor signaling pathway IDA
IDA: 通过直接分析推断
11279102 GOA
NOT involved in regulation of histamine secretion by mast cell IMP
IMP: 通过突变表型推断
18253931 GOA
involved in retrograde transport, endosome to Golgi IMP
IMP: 通过突变表型推断
19935774 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
11279102 GOA
located in early endosome membrane IDA
IDA: 通过直接分析推断
19935774 GOA
part of retromer complex IDA
IDA: 通过直接分析推断
19619496 GOA
located in tubular endosome IDA
IDA: 通过直接分析推断
19619496 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

SNX6 蛋白结构

PX

PX: PX domain (43 - 181)

Vps5

Vps5: Vps5 C terminal like (199 - 405)

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

sorting nexin-6

TRAF4-associated factor 2

SNX6 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
SNX6 Q9UNH7 SNX2 Homo sapiens O60749 33961781
种属内
SNX6 Q9UNH7 SNX2 Homo sapiens O60749 32296183
种属内
SNX6 Q9UNH7 SNX2 Homo sapiens O60749 32296183
种属内
SNX6 Q9UNH7 SNX2 Homo sapiens O60749 35271311
种属内
SNX6 Q9UNH7 TEX11 Homo sapiens Q8IYF3-3 32296183
种属内
SNX6 Q9UNH7 TEX11 Homo sapiens Q8IYF3-3 32296183
种属间
SNX6 Q9UNH7 incE Chlamydia trachomatis serovar D P0DJI4 26118995
种属间
SNX6 Q9UNH7 incE Chlamydia trachomatis serovar D P0DJI4 26118995
种属内
SNX6 Q9UNH7 SNX1 Homo sapiens Q13596 32296183
种属内
SNX6 Q9UNH7 SNX1 Homo sapiens Q13596 23524952
种属内
SNX6 Q9UNH7 SNX1 Homo sapiens Q13596
Y2H
21988832
种属内
SNX6 Q9UNH7 SNX1 Homo sapiens Q13596 32296183
种属内
SNX6 Q9UNH7 SNX1 Homo sapiens Q13596 35271311
种属内
SNX6 Q9UNH7 DCTN1 Homo sapiens Q14203 23524952
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
Holoprosencephaly 8

HPE8

Holoprosencephaly-8

Chromosome 14q11-Q22 Deletion Syndrome

14q11.2 Microdeletion Syndrome

Zahir-Friedman Syndrome

Del(14)(Q11.2)

Monosomy 14q11.2

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

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 SNX6 MGD MGI:1919433
Macaca mulatta SNX6 VGNC VGNC:104700
Bos taurus SNX6 VGNC VGNC:35112
Rattus norvegicus SNX6 RGD RGD:1304647
Canis familiaris SNX6 VGNC VGNC:51689
Felis catus SNX6 VGNC VGNC:80838