2. Gene
  3. CLCF1 - cardiotrophin like cytokine factor 1 Gene

CLCF1 - cardiotrophin like cytokine factor 1 Gene

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

中文名称：心肌营养素样细胞因子 1

种属: Homo sapiens

同用名: CLC; NR6; BSF3; NNT1; BSF-3; CISS2; NNT-1

基因 ID: 23529 | 基因类型: protein coding

关于 CLCF1

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:67,364,168-67,374,177 (from NCBI)

This gene has 2 transcripts (splice variants), 187 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in gall bladder (RPKM 9.3), endometrium (RPKM 7.5) and 21 other tissues.

功能概要

该基因是糖蛋白 (gp) 130 细胞因子家族的成员，编码心肌营养素样细胞因子因子 1 (CLCF1) 。 CLCF1 与细胞因子受体样因子 1 (CRLF1) 形成异二聚体复合物。该二聚体与睫状神经营养因子 (CNTF) 竞争结合睫状神经营养因子受体 (CNTFR) 复合物，并激活 Jak-STAT 信号级联。 CLCF1 可以通过与可溶性 I 型 CRLF1 或可溶性 CNTFR 形成复合物而从细胞中主动分泌。 CLCF1 是一种有效的神经营养因子、B 细胞刺激剂和垂体促肾上腺皮质激素功能的神经内分泌调节剂。 CLCF1 的缺陷会导致寒冷引起的出汗综合征 2 (CISS2) 。这种综合征的特征是受寒后大量出汗以及头部和脊柱先天性生理异常。可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供，2009 年 10 月]

This gene is a member of the glycoprotein (gp)130 cytokine family and encodes cardiotrophin-like cytokine factor 1 (CLCF1). CLCF1 forms a heterodimer complex with cytokine receptor-like factor 1 (CRLF1). This dimer competes with ciliary neurotrophic factor (CNTF) for binding to the ciliary neurotrophic factor receptor (CNTFR) complex, and activates the Jak-STAT signaling cascade. CLCF1 can be actively secreted from cells by forming a complex with soluble type I CRLF1 or soluble CNTFR. CLCF1 is a potent neurotrophic factor, B-cell stimulatory agent and neuroendocrine modulator of pituitary corticotroph function. Defects in CLCF1 cause cold-induced sweating syndrome 2 (CISS2). This syndrome is characterized by a profuse sweating after exposure to cold as well as congenital physical abnormalities of the head and spine. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]

CLCF1 基因产物(2)

mRNA Protein Name
NM_001166212.2 NP_001159684.1 cardiotrophin-like cytokine factor 1 isoform 2 precursor
NM_013246.3 NP_037378.1 cardiotrophin-like cytokine factor 1 isoform 1 precursor
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
contributes to ciliary neurotrophic factor receptor binding IDA
IDA: 通过直接分析推断
10966616 GOA
enables ciliary neurotrophic factor receptor binding IDA
IDA: 通过直接分析推断
11285233 GOA
contributes to cytokine activity IDA
IDA: 通过直接分析推断
10966616 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10966616 GOA
enables signaling receptor binding IPI
IPI: 通过物理相互作用推断
15272019 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell surface receptor signaling pathway via STAT IDA
IDA: 通过直接分析推断
10966616 GOA
involved in negative regulation of neuron apoptotic process IDA
IDA: 通过直接分析推断
10966616 GOA
involved in positive regulation of cell population proliferation IDA
IDA: 通过直接分析推断
10966616 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of CNTFR-CLCF1 complex IDA
IDA: 通过直接分析推断
11285233 GOA
part of CRLF-CLCF1 complex IDA
IDA: 通过直接分析推断
10966616 GOA
located in extracellular region IDA
IDA: 通过直接分析推断
10966616 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

CLCF1 蛋白结构

PRF

PRF: Plethodontid receptivity factor PRF (54 - 211)

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

cardiotrophin-like cytokine factor 1

B-cell stimulatory factor 3

重组 CLCF1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75942 NNT1/CLC Protein, Human (HEK293, Fc) Q9UBD9/ NP_037378.1 (L28-F225) ≥95%

关联疾病

疾病名称 别名
Crisponi/Cold-Induced Sweating Syndrome 2

Cold-Induced Sweating Syndrome 2

CISS2

Sweating Syndrome, Cold-Induced, Type 2
Cold-Induced Sweating Syndrome

Crisponi Syndrome

Sohar-Crisponi Syndrome

Ciss

Cntf Receptor-Related Disorders

Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death

Sweating Syndrome, Cold-Induced
Crisponi/Cold-Induced Sweating Syndrome 1

Crisponi Syndrome

Cold-Induced Sweating Syndrome 1

CISS1

Sohar-Crisponi Syndrome

Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death

Muscle Contractions Tetanoform With Characteristic Face Camptodactyly Hyperthermia And Sudden Death
Developmental And Epileptic Encephalopathy 11

Epileptic Encephalopathy, Early Infantile, 11

DEE11

Eiee11

Developmental And Epileptic Encephalopathy, 11

Early Infantile Epileptic Encephalopathy 11

Encephalopathy, Developmental And Epileptic, Type 11
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay

CLIFAHDD

Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome

Clifahdd Syndrome

Doid:0081048

Contractures, Limbs And Face, Congenital, Hypotonia, And Developmental Delay
Arthrogryposis, Distal, Type 1a

Distal Arthrogryposis Type 1

Digitotalar Dysmorphism

DA1A

Da1

Amcd1

Arthrogryposis, Distal, Type 2b4

Distal Arthrogryposis Type 1a

Arthrogryposis, Distal, Type 1

Arthrogryposis Multiplex Congenita Distal Type 1

Arthrogryposis Multiplex Congenita, Distal Type 1

Arthrogryposis Multiplex Congenita, Distal, Type I

Distal Arthrogryposis Type 1b

Arthrogryposis, Distal, 1a

Amc

Arthrogryposis Multiplex Congenita

Arthrogryposis, Distal, 2b4

DA2B4

Arthrogryposis Multiplex Congenita, Distal, Type 1

Arthrogryposis
Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis
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-RS02752 CLCF1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus CLCF1 MGD MGI:1930088
Rattus norvegicus CLCF1 RGD RGD:1303171
Bos taurus CLCF1 VGNC VGNC:56260
Felis catus CLCF1 VGNC VGNC:60922
Macaca mulatta CLCF1 VGNC VGNC:71195
Canis familiaris CLCF1 VGNC VGNC:39300
Others CLCF1 NCBI
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