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  2. C1QTNF1 - C1q and TNF related 1 Gene

C1QTNF1 - C1q and TNF related 1 Gene

中文名称:C1q 和 TNF 相关 1

种属: Homo sapiens

同用名: GIP; CTRP1; ZSIG37

基因 ID: 114897 | 基因类型: protein coding

关于 C1QTNF1

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:79,022,934-79,049,788 (from NCBI)

This gene has 12 transcripts (splice variants), 160 orthologues and 23 paralogues. Broad expression in fat (RPKM 33.8), placenta (RPKM 15.4) and 21 other tissues.

功能概要

启用胶原蛋白结合活性。参与多个过程,包括血小板聚集的负调节;醛固酮分泌的正调节;和细胞溶质钙离子浓度的正调节。位于细胞外空间。是质膜的组成部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables collagen binding activity. Involved in several processes, including negative regulation of platelet aggregation; positive regulation of aldosterone secretion; and positive regulation of cytosolic calcium ion concentration. Located in extracellular space. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

C1QTNF1 基因产物(4)

mRNA Protein Name
NM_030968.5 NP_112230.1 complement C1q tumor necrosis factor-related protein 1 isoform 1 precursor
NM_153372.3 NP_699203.1 complement C1q tumor necrosis factor-related protein 1 isoform 1 precursor
NM_198593.4 NP_940995.1 complement C1q tumor necrosis factor-related protein 1 isoform 1 precursor
NM_198594.4 NP_940996.1 complement C1q tumor necrosis factor-related protein 1 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 collagen binding IDA
IDA: 通过直接分析推断
16195328 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12409230 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of platelet activation IDA
IDA: 通过直接分析推断
16195328 GOA
involved in negative regulation of platelet aggregation IDA
IDA: 通过直接分析推断
16195328 GOA
involved in positive regulation of aldosterone secretion IDA
IDA: 通过直接分析推断
18171693 GOA
involved in positive regulation of cytosolic calcium ion concentration IDA
IDA: 通过直接分析推断
18171693 GOA
involved in positive regulation of gene expression IDA
IDA: 通过直接分析推断
18171693 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular space IDA
IDA: 通过直接分析推断
18171693 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
12409230 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

C1QTNF1 蛋白结构

Collagen

Collagen: Collagen triple helix repeat (20 copies) (99 - 140)

C1q

C1q: C1q domain (147 - 275)

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

complement C1q tumor necrosis factor-related protein 1

C1q and tumor necrosis factor related protein 1

重组 C1QTNF1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7693 C1QTNF1/CTRP1 Protein, Human (HEK293, His) Q9BXJ1-1 (R26-P281) ≥95%

关联疾病

疾病名称 别名
Granulomatous Disease, Chronic, Autosomal Recessive, 2

Chronic Granulomatous Disease Due To Deficiency Of Ncf-2

CGD2

Ncf2 Deficiency

P67-Phox Deficiency

Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Ii

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 2

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii

Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii

Granulomatous Disease, Chronic, Due To Ncf2 Deficiency

Neutrophil Cytosol Factor 2 Deficiency

Chronic Granulomatous Disease 2, Autosomal Recessive

Autosomal Recessive Chronic Granulomatous Disease 2

Cdg2

Deficiency Of Ncf2

Deficiency Of P67-Phox

Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii

Deficiency Of Neutrophil Cytosol Factor 2

Avellino Corneal Dystrophy

Chorioangioma

Placental Hemangioma

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

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
Rattus norvegicus C1QTNF1 RGD RGD:1359204
Mus musculus C1QTNF1 MGD MGI:1919254
Canis familiaris C1QTNF1 VGNC VGNC:51925
Macaca mulatta C1QTNF1 VGNC VGNC:70311
Felis catus C1QTNF1 VGNC VGNC:60221
Bos taurus C1QTNF1 VGNC VGNC:26622
Others C1QTNF1 NCBI