1. Gene
  2. CNTN1 - contactin 1 Gene

CNTN1 - contactin 1 Gene

中文名称:联系方式 1

种属: Homo sapiens

同用名: F3; GP135; MYPCN

基因 ID: 1272 | 基因类型: protein coding

关于 CNTN1

Cytogenetic location: 12q12 Genomic coordinates (GRCh38): 12:40,692,439-41,072,415 (from NCBI)

This gene has 11 transcripts (splice variants), 281 orthologues, 36 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 51.8), ovary (RPKM 13.6) and 10 other tissues.

功能概要

该基因编码的蛋白质是免疫球蛋白超家族的成员。它是一种糖基磷脂酰肌醇 (GPI) 锚定神经元膜蛋白,充当细胞粘附分子。它可能在发育中的神经系统中轴突连接的形成中发挥作用。已为该基因发现编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供,2011 年 12 月]

The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

CNTN1 基因产物(4)

mRNA Protein Name
NM_001256063.2 NP_001242992.1 contactin-1 isoform 3 precursor
NM_001256064.2 NP_001242993.1 contactin-1 isoform 3 precursor
NM_001843.4 NP_001834.2 contactin-1 isoform 1 precursor
NM_175038.2 NP_778203.1 contactin-1 isoform 2 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 protein binding IPI
IPI: 通过物理相互作用推断
21969550 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

CNTN1 蛋白结构

Ig_2

Ig_2: Immunoglobulin domain (58 - 130)

Ig_2

Ig_2: Immunoglobulin domain (143 - 217)

I-set

I-set: Immunoglobulin I-set domain (244 - 325)

I-set

I-set: Immunoglobulin I-set domain (334 - 408)

I-set

I-set: Immunoglobulin I-set domain (422 - 500)

Ig_2

Ig_2: Immunoglobulin domain (511 - 587)

fn3

fn3: Fibronectin type III domain (606 - 693)

fn3

fn3: Fibronectin type III domain (719 - 796)

fn3

fn3: Fibronectin type III domain (811 - 893)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1018 a.a.
蛋白主名 其他名称

contactin-1

glycoprotein gP135

CNTN1 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
CNTN1 Q12860 CNTNAP2 Homo sapiens Q9UHC6
BLI
26721881
种属内
CNTN1 Q12860 CNTNAP2 Homo sapiens Q9UHC6
Confocal
26721881
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 CNTN1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74225 Contactin-1/CNTN1 Protein, Human (HEK293, His) Q12860 (E21-S993) ≥95%

关联疾病

疾病名称 别名
Myopathy, Congenital, Compton-North

Compton-North Congenital Myopathy

MYPCN

Congenital Lethal Myopathy, Compton-North Type

Autoimmune Neuropathy
Polyradiculopathy
Demyelinating Polyneuropathy

Peripheral Demyelinating Neuropathy

Demyelinating Peripheral Neuropathy

Chronic Inflammatory Demyelinating Polyradiculoneuropathy

Chronic Inflammatory Demyelinating Polyneuropathy

Cidp

Polyradiculoneuropathy Chronic Inflammatory Demyelinating

Polyradiculoneuropathy, Chronic Inflammatory Demyelinating

Generalized Epilepsy With Febrile Seizures Plus, Type 9

GEFSP9

Gefs+9

Generalized Epilepsy With Febrile Seizures Plus 9

Gefs+, Type 9

Generalised Epilepsy With Febrile Seizures Plus 9

Generalised Epilepsy With Febrile Seizures Plus Type 9

Generalized Epilepsy With Febrile Seizures Plus Type 9

Gefs+ Type 9

Epilepsy, Generalized, With Febrile Seizures Plus, Type 9

Multiple Pterygium Syndrome, Escobar Variant

Multiple Pterygium Syndrome

Pterygium

Escobar Syndrome

EVMPS

Pterygium Syndrome

Autosomal Recessive Multiple Pterygium Syndrome

Pterygium Colli Syndrome

Pterygium Universale

Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome

Escobar Variant Multiple Pterygium Syndrome

Multiple Pterygium Syndrome, Nonlethal Type

Surfer'S Eye

Multiple Pterygium Syndrome Escobar Type

Multiple Pterygium Syndrome Nonlethal Type

Familial Pterygium Syndrome

Pterygium Colli

Multiple Pterygium Syndrome, Non-Lethal Type

Nonlethal Type Multiple Pterygium Syndrome

Pterygium Syndrome, Multiple, Escobar Type

Pterygium Of Eye

Web Eye

Autoimmune Peripheral Neuropathy
Autoimmune Disease Of Peripheral Nervous System
Myopathy

Muscular Diseases

Myopathies

Miller Fisher Syndrome

Cranial Variant Of Gbs

Fisher'S Syndrome

Miller-Fisher Variant Of Guillain-Barre Syndrome

Miller-Fisher Syndrome

Cranial Variant Of Guillain-Barré Syndrome

Cranial Variant Of Guillain-Barre Syndrome

Fisher Syndrome

Seckel Syndrome 5

SCKL5

Seckel Syndrome, Type 5

Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Polyneuropathy

Polyneuropathies

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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 CNTN1 RGD RGD:621300
Mus musculus CNTN1 MGD MGI:105980
Bos taurus CNTN1 VGNC VGNC:27536
Macaca mulatta CNTN1 VGNC VGNC:71283
Felis catus CNTN1 VGNC VGNC:61036
Canis familiaris CNTN1 VGNC VGNC:39432
Others CNTN1 NCBI