2. Gene
  3. C1QTNF5 - C1q and TNF related 5 Gene

C1QTNF5 - C1q and TNF related 5 Gene

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

中文名称：C1q 和 TNF 相关 5

种属: Homo sapiens

同用名: MFRP; CTRP5

基因 ID: 114902 | 基因类型: protein coding

关于 C1QTNF5

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:119,338,942-119,346,705 (from NCBI)

This gene has 4 transcripts (splice variants), 188 orthologues, 23 paralogues and is associated with 3 phenotypes. Broad expression in gall bladder (RPKM 9.2), fat (RPKM 6.7) and 20 other tissues.

功能概要

该基因编码一个蛋白质家族的成员，该蛋白质家族作为基底膜的成分发挥作用，并可能在细胞粘附中发挥作用。该基因的突变与迟发性视网膜变性有关。该蛋白质可由包括来自上游膜卷曲相关蛋白基因 (MFRP) 的序列的双顺反子转录物编码，或由内部启动子表达的单顺反子转录物编码。[RefSeq 提供，2013 年 6 月]

This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013]

C1QTNF5 基因产物(2)

mRNA Protein Name
NM_001278431.2 NP_001265360.1 complement C1q tumor necrosis factor-related protein 5 precursor
NM_015645.5 NP_056460.1 complement C1q tumor necrosis factor-related protein 5 precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
16600989 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16600989 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

C1QTNF5 蛋白结构

Collagen

Collagen: Collagen triple helix repeat (20 copies) (36 - 93)

C1q

C1q: C1q domain (105 - 232)

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

complement C1q tumor necrosis factor-related protein 5

C1q TNF-alpha-related protein 5

C1QTNF5 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
C1QTNF5 Q9BXJ0 MFRP Homo sapiens Q9BY79
Anti Bait CoIP
17122143
种属内
C1QTNF5 Q9BXJ0 C1QTNF5 Homo sapiens Q9BXJ0
X-Ray Diffraction
24531000
种属内
C1QTNF5 Q9BXJ0 C1QTNF5 Homo sapiens Q9BXJ0
GMS
24531000
种属内
C1QTNF5 Q9BXJ0 MFRP Homo sapiens Q9BY79
Pull Down
24531000
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
Late-Onset Retinal Degeneration

LORD

Retinal Degeneration, Late-Onset, Autosomal Dominant

Autosomal Dominant Late-Onset Retinal Degeneration

Pigmentary Retinopathy

Retinal Degeneration, Late-Onset

Retinitis Pigmentosa
Microphthalmia, Isolated 5

Isolated Microphthalmia 5

MCOP5

Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen

Microphthalmia-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome

Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disc Drusen

Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome

Microphthalmia, Isolated, 5

Microphthalmia Mfrp-Related

Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disk Drusen

Microphthalmia, Isolated, Type 5
Nanophthalmos 2

NNO2

Nanophthalmia 2

Nanophthalmos, Autosomal Recessive

Nanophthalmos, Type 2
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Retinal Degeneration

Degeneration Of Retina
Nanophthalmos

Nanophthalmia
Night Blindness

Nyctalopia
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-RS01731 C1QTNF5 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta C1QTNF5 VGNC VGNC:107432
Rattus norvegicus C1QTNF5 RGD RGD:1308802
Canis familiaris C1QTNF5 VGNC VGNC:56006
Mus musculus C1QTNF5 MGD MGI:2385958
Felis catus C1QTNF5 VGNC VGNC:60223
Bos taurus C1QTNF5 VGNC VGNC:26625
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