2. Gene
  3. REEP6 - receptor accessory protein 6 Gene

REEP6 - receptor accessory protein 6 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：受体辅助蛋白 6

种属: Homo sapiens

同用名: RP77; DP1L1; TB2L1; Yip2f; REEP6.1; REEP6.2; C19orf32

基因 ID: 92840 | 基因类型: protein coding

关于 REEP6

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:1,491,181-1,497,927 (from NCBI)

This gene has 4 transcripts (splice variants), 201 orthologues, 5 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 114.3), duodenum (RPKM 92.1) and 6 other tissues.

功能概要

由该基因编码的蛋白质可能参与受体从内质网 (ER) 到细胞表面的转运。编码的蛋白质也可能在调节 ER 膜结构中发挥作用。该基因是视网膜杆和光感受器正常发育所必需的，该基因的缺陷与色素性视网膜炎 77 有关。[RefSeq 提供，2017 年 5 月]

The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77. [provided by RefSeq, May 2017]

REEP6 基因产物(2)

mRNA Protein Name
NM_001329556.3 NP_001316485.1 receptor expression-enhancing protein 6 isoform 1
NM_138393.4 NP_612402.1 receptor expression-enhancing protein 6 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 protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in detection of light stimulus involved in visual perception IMP
IMP: 通过突变表型推断
27889058 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
27889058 GOA
located in photoreceptor inner segment IDA
IDA: 通过直接分析推断
27889058 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

REEP6 蛋白结构

TB2_DP1_HVA22

TB2_DP1_HVA22: TB2/DP1, HVA22 family (50 - 144)

  • 0
  • 100
  • 184 a.a.
蛋白主名 其他名称

receptor expression-enhancing protein 6

deleted in polyposis 1-like 1

REEP6 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
Intra REEP6 Q96HR9 HMBOX1 Homo sapiens Q6NT76-2
Y2H Array
25416956
Intra REEP6 Q96HR9 HMBOX1 Homo sapiens Q6NT76-2
Y2H Prey Pooling
25416956
Intra REEP6 Q96HR9 HMBOX1 Homo sapiens Q6NT76-2
Validated Y2H
25416956
Intra REEP6 Q96HR9 PTPN9 Homo sapiens Q6IQ43
Validated Y2H
25416956
Intra REEP6 Q96HR9 PTPN9 Homo sapiens Q6IQ43
Y2H Array
25416956
Cross REEP6 Q96HR9 ns6_sars2 SARS-CoV-2 P0DTC6
Y2H Array
36217030
Intra REEP6 Q96HR9 HMBOX1 Homo sapiens Q6NT76
Y2H Array
25416956
Intra REEP6 Q96HR9 SNX1 Homo sapiens Q13596
Validated Y2H
25416956
Intra REEP6 Q96HR9 SNX1 Homo sapiens Q13596
Y2H Prey Pooling
25416956
Intra REEP6 Q96HR9 ZFYVE21 Homo sapiens Q9BQ24
Y2H Prey Pooling
25416956
Intra REEP6 Q96HR9 ZFYVE21 Homo sapiens Q9BQ24
Y2H Array
25416956
Intra REEP6 Q96HR9 LITAF Homo sapiens Q99732
Y2H Array
31515488
Intra REEP6 Q96HR9 LITAF Homo sapiens Q99732
Y2H Array
25416956
Intra REEP6 Q96HR9 LITAF Homo sapiens Q99732
Y2H Prey Pooling
25416956
Intra REEP6 Q96HR9 SNX15 Homo sapiens Q9NRS6
Y2H Array
31515488
Intra REEP6 Q96HR9 SNX15 Homo sapiens Q9NRS6
Y2H Prey Pooling
25416956
Intra REEP6 Q96HR9 SNX15 Homo sapiens Q9NRS6
Y2H Array
25416956
Intra REEP6 Q96HR9 SNX15 Homo sapiens Q9NRS6
Y2H
21516116
Intra REEP6 Q96HR9 SDCBP Homo sapiens O00560
Y2H Array
25416956
Intra REEP6 Q96HR9 FHIP1B Homo sapiens Q8N612
Y2H Array
25416956
Intra REEP6 Q96HR9 SPG21 Homo sapiens Q9NZD8
Validated Y2H
25416956
Intra REEP6 Q96HR9 SPG21 Homo sapiens Q9NZD8
Y2H Array
31515488
Intra REEP6 Q96HR9 SPG21 Homo sapiens Q9NZD8
Y2H Prey Pooling
25416956
Intra REEP6 Q96HR9 SPG21 Homo sapiens Q9NZD8
Y2H Array
25416956
Intra REEP6 Q96HR9 COQ8A Homo sapiens Q8NI60
Y2H Array
25416956
Intra REEP6 Q96HR9 COQ8A Homo sapiens Q8NI60
Y2H Array
31515488
Intra REEP6 Q96HR9 TNS2 Homo sapiens Q63HR2
Validated Y2H
25416956
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
Retinitis Pigmentosa 77

RP77

Retinitis Pigmentosa, Type 77
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
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
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11817 REEP6 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris REEP6 VGNC VGNC:81922
Bos taurus REEP6 VGNC VGNC:33856
Rattus norvegicus REEP6 RGD RGD:1309508
Felis catus REEP6 VGNC VGNC:64564
Mus musculus REEP6 MGD MGI:1917585
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