1. Gene
  2. CHN1 - chimerin 1 Gene

CHN1 - chimerin 1 Gene

中文名称:嵌合体 1

种属: Homo sapiens

同用名: NC; CHN; DURS2; ARHGAP2; RHOGAP2

基因 ID: 1123 | 基因类型: protein coding

关于 CHN1

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:174,798,809-175,005,381 (from NCBI)

This gene has 42 transcripts (splice variants), 171 orthologues, 4 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 113.6), placenta (RPKM 8.8) and 1 other tissue.

功能概要

该基因编码 Ras 相关 p21-rac 和佛波醇酯受体的 GTPase 激活蛋白。它主要在神经元中表达,并在神经元信号转导机制中发挥重要作用。该基因的突变与杜安回缩综合征 2 (DURS2) 有关。已经针对该基因描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2011 年 4 月]

This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]

CHN1 基因产物(5)

mRNA Protein Name
NM_001025201.4 NP_001020372.2 N-chimaerin isoform 2
NM_001206602.2 NP_001193531.1 N-chimaerin isoform 3
NM_001371513.1 NP_001358442.1 N-chimaerin isoform 1
NM_001371514.1 NP_001358443.1 N-chimaerin isoform 4
NM_001822.7 NP_001813.1 N-chimaerin isoform 1
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
21516116 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

CHN1 蛋白结构

SH2

SH2: SH2 domain (50 - 118)

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (206 - 257)

RhoGAP

RhoGAP: RhoGAP domain (282 - 431)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 459 a.a.
蛋白主名 其他名称

N-chimaerin

A-chimaerin

CHN1 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
CHN1 P15882 HEMK1 Homo sapiens Q9Y5R4 32296183
种属内
CHN1 P15882 HEMK1 Homo sapiens Q9Y5R4 31515488
种属内
CHN1 P15882 HEMK1 Homo sapiens Q9Y5R4 25416956
种属内
CHN1 P15882 ANKK1 Homo sapiens Q8NFD2 32296183
种属内
CHN1 P15882 NCK2 Homo sapiens O43639 25910212
种属内
CHN1 P15882 NCK2 Homo sapiens O43639 25910212
种属内
CHN1 P15882 NCK2 Homo sapiens O43639 25910212
种属内
CHN1 P15882 NCK2 Homo sapiens O43639 32296183
种属内
CHN1 P15882 NCK2 Homo sapiens O43639 32296183
种属内
CHN1 P15882 NCK2 Homo sapiens O43639 25416956
种属内
CHN1 P15882 MAPK1 Homo sapiens P28482 32296183
种属内
CHN1 P15882 MAPK1 Homo sapiens P28482 32296183
种属内
CHN1 P15882 MAPK1 Homo sapiens P28482 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 CHN1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75673 CHN1 Protein, Human (sf9) P15882 (A2-F459) ≥95%
HY-P75674 CHN1 Protein, Human (sf9, His-GST) P15882 (A2-F459) ≥95%

关联疾病

疾病名称 别名
Duane Retraction Syndrome 2

DURS2

Duane Retraction Syndrome, Type 2

Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome

Duane'S Syndrome

Duane Syndrome

Isolated Duane Retraction Syndrome

Co-Contractive Retraction Syndrome

Duane Anomaly, Isolated

Ocular Retraction Syndrome

Drs

Durs

Robinow Syndrome, Autosomal Dominant 2

Autosomal Dominant Robinow Syndrome 2

DRS2

Robinow, Autosomal Dominant Syndrome, Type 2

Diaphragm Disease

Abnormality Of The Diaphragm

Disease Of Diaphragm

Diaphragmatic Disorder

Disorder Of Diaphragm

Duane Retraction Syndrome 1

Duane Syndrome

Duane Retraction Syndrome

Drs

Duane Anomaly

Stilling-Turk-Duane Syndrome

DURS1

Dus

Retraction Syndrome

Duane Anomaly, Isolated

Type 1 Duane Retraction Syndrome

Diaphragmatic Eventration
Laryngomalacia

Congenital Laryngomalacia

Congenital Laryngeal Stridor

Laryngomalacia Congenital

Floppy Epiglottis

Hydronephrosis

Stricture Of Ureteropelvic Junction With Hydronephrosis

Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified

Dandy-Walker Syndrome

Dandy-Walker Malformation

DWS

Atresia Of Foramina Of Magendie And Luschka

Dandy-Walker Complex

Dandy-Walker Cyst

Dandy-Walker Deformity

Dandy Walker Cyst

Dw Complex

Dandy-Walker Syndrome Or Malformation

Dandy-Walker Variant

Mega Cisterna Magna

Dwm

Hydrocephalus, Internal, Dandy-Walker Type

Hydrocephalus, Noncommunicating, Dandy-Walker Type

Luschka-Magendie Foramina Atresia

Isolated Dandy-Walker Malformation

Mega-Cisterna Magna

Dandy Walker Variant

Atresia Of Foramen Of Luschka

Atresia Of Foramen Of Magendie

Congenital Blockage Of Foramen Magendie

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Night Blindness

Nyctalopia

Amblyopia

Lazy Eye

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Robinow Syndrome, Autosomal Dominant 3

Autosomal Dominant Robinow Syndrome 3

DRS3

Robinow, Autosomal Dominant Syndrome, Type 3

Hypotropia
Accommodative Esotropia

Esotropia With Accommodative Compensation

Paralytic Squint

Paralytic Strabismus

Incomitant Dissociation

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles

Cfeom

Feom

Congenital External Ophthalmoplegia

Congenital Fibrosis Syndrome

General Fibrosis Syndrome

Ocular Motility Disease

Ocular Motility Disorders

Abnormality Of Eye Movement

Disorder Of Eye Movements

Eye Movement Disorder

Eye Movement Disorders

Hypertropia
Partial Third-Nerve Palsy

Partial Third Nerve Palsy

Third Nerve Palsy With Pupil Sparing

Third Or Oculomotor Nerve Palsy, Partial

Oculomotor Nerve Diseases

Oculomotor Nerve Paralysis

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Abducens Palsy

Sixth Nerve Palsy

Abducens Nerve Palsy

Abducens Nerve Disease

Abducens Nerve Weakness

Lateral Rectus Muscle Denervation Paresis

Lateral Rectus Muscle Innervation Disorder

Sixth Cranial Nerve Disorder

6th Nerve Palsy

Abducens Nerve Diseases

Vith Nerve Disorder

Vith Nerve Paralysis

Cranial Mononeuropathy Vi

Cranial Nerve Vi Palsy

Sixth Cranial Nerve Palsy

Vi Nerve Palsy

Abducens Nerve Disorder

Abducens Sixth Nerve Palsy

Abducens Nerve Paralysis

Disease Or Disorder Of Abducent Nerve

Sixth Cranial Nerve Disease

Sixth Cranial Nerve Weakness

Disorder Of Sixth Cranial Nerve

Isolated Abducent Nerve Palsy

Atrophy Of Sixth Cranial Nerve

Paralysis Of Sixth Cranial Nerve

Duane-Radial Ray Syndrome

Okihiro Syndrome

DRRS

Dr Syndrome

Duane Anomaly With Radial Ray Abnormalities And Deafness

Acrorenoocular Syndrome

Acrorenocular Syndrome

Duane Anomaly With Radial Abnormalities And Deafness

Acro-Renal-Ocular Syndrome

Abnormal Retinal Correspondence
Esotropia

Convergence In Manifest Squint

Crossed Eyes

Internal Strabismus

Convergent Concomitant Strabismus

Convergent Squint

Convergent Strabismus

Cross-Eye

Exotropia

Divergent Concomitant Strabismus

Divergent Strabismus

Divergent Squint

External Strabismus

Xt - [Exotropia]

Refractive Amblyopia

Ametropic Amblyopia

Strabismic Amblyopia

Suppression Amblyopia

Amblyopia

Amblyopia, Suppression

Nonaka Myopathy

Gne Myopathy

Hibm

Distal Myopathy With Rimmed Vacuoles

Hereditary Inclusion Body Myopathy

Ibm2

Inclusion Body Myopathy, Quadriceps-Sparing

Qsm

Dmrv

Distal Myopathy, Nonaka Type

Inclusion Body Myopathy 2

Inclusion Body Myopathy, Autosomal Recessive

NM

Nonaka Distal Myopathy

Myopathy, Distal, With Or Without Rimmed Vacuoles

Inclusion Body Myopathy, Hereditary, Autosomal Recessive

Inclusion Body Myopathy Type 2

Quadriceps-Sparing Myopathy

Quadriceps Sparing Myopathy

Rimmed Vacuole Myopathy

Inclusion Body Myopathy 2, Autosomal Recessive, Formerly

Ibm2, Formerly

Hibm2

Hereditary Inclusion Body Myopathy Type 2

Inclusion Body Myopathy 2, Autosomal Recessive

Myopathy, Distal, With Rimmed Vacuoles

Inclusion Body Myopathy Autosomal Recessive

Myopathy, Inclusion Body, Type 2

Myopathy, Nonaka

Moebius Syndrome

Mobius Syndrome

Moebius Sequence

Oromandibular-Limb Hypogenesis Spectrum

Congenital Facial Diplegia

MBS

Moebius Congenital Oculofacial Paralysis

Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves

Congenital Facial Diplegia Syndrome

Congenital Oculofacial Paralysis

Congenital Ophthalmoplegia And Facial Paresis

Moebius Spectrum

Möbius Sequence

Möbius Syndrome

Mobius Ii Syndrome

Refractive Error

Refractive Errors

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
Canis familiaris CHN1 VGNC VGNC:56135
Bos taurus CHN1 VGNC VGNC:27307
Macaca mulatta CHN1 VGNC VGNC:71041
Mus musculus CHN1 MGD MGI:1915674
Felis catus CHN1 VGNC VGNC:107509
Rattus norvegicus CHN1 RGD RGD:620139
Others CHN1 NCBI