1. Gene
  2. CRLF1 - cytokine receptor like factor 1 Gene

CRLF1 - cytokine receptor like factor 1 Gene

中文名称:细胞因子受体样因子 1

种属: Homo sapiens

同用名: CLF; NR6; CISS; CISS1; CLF-1; zcytor5

基因 ID: 9244 | 基因类型: protein coding

关于 CRLF1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:18,593,237-18,606,799 (from NCBI)

This gene has 6 transcripts (splice variants), 173 orthologues, 23 paralogues and is associated with 5 phenotypes. Broad expression in placenta (RPKM 4.8), brain (RPKM 3.2) and 15 other tissues.

功能概要

该基因编码细胞因子 I 型受体家族的成员。该蛋白与心肌营养素样细胞因子 1 形成分泌复合物,并作用于表达睫状神经营养因子受体的细胞。该复合物可以促进神经元细胞的存活。该基因的突变会导致 Crisponi 综合征和寒冷引起的出汗综合征。[RefSeq 提供,2009 年 10 月]

This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells. Mutations in this gene result in Crisponi syndrome and cold-induced sweating syndrome. [provided by RefSeq, Oct 2009]

CRLF1 基因产物(1)

mRNA Protein Name
NM_004750.5 NP_004741.1 cytokine receptor-like factor 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
contributes to cytokine activity IDA
IDA: 通过直接分析推断
10966616 GOA
enables cytokine binding IPI
IPI: 通过物理相互作用推断
15034937 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10966616 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 CRLF-CLCF1 complex 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

CRLF1 蛋白结构

EpoR_lig-bind

EpoR_lig-bind: Erythropoietin receptor, ligand binding (133 - 227)

fn3

fn3: Fibronectin type III domain (236 - 312)

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

cytokine receptor-like factor 1

class I cytokine receptor

CRLF1 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 CRLF1 O75462 SORL1 Homo sapiens Q92673
SPR
26858303
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
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

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

Cold-Induced Sweating Syndrome Including Crisponi Syndrome

Crisponi/Cold-Induced Sweating Syndrome

Achalasia

Cardiospasm

Achalasia Of Cardia

Esophageal Achalasia

Hypertensive Lower Esophageal Sphincter

Idiopathic Achalasia

Achalasia Cardia

Idiopathic Achalasia Of Esophagus

Primary Achalasia

Achalasia Of Esophagus

Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter

Aperistalsis Of The Oesophagus

Achalasia Of Oesophagus

Oesophageal Achalasia

Achalasia Nos

Cardia Spasm

Cardia Achalasia

Oesophageal Cardiospasm

Oesophagus Achalasia

Reflex Cardiospasm

Crisponi/Cold-Induced Sweating Syndrome 2

Cold-Induced Sweating Syndrome 2

CISS2

Sweating Syndrome, Cold-Induced, Type 2

Retinitis Pigmentosa 42

RP42

Retinitis Pigmentosa-42

Retinitis Pigmentosa, Type 42

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

Tetanus Neonatorum

Neonatal Tetanus

NNT

Trismus Neonatorum

Newborn Trismus

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
Macaca mulatta CRLF1 VGNC VGNC:109610
Canis familiaris CRLF1 VGNC VGNC:39620
Felis catus CRLF1 VGNC VGNC:61183
Rattus norvegicus CRLF1 RGD RGD:1311371
Bos taurus CRLF1 VGNC VGNC:27717
Mus musculus CRLF1 MGD MGI:1340030
Others CRLF1 NCBI