1. Gene
  2. NOS1AP - nitric oxide synthase 1 adaptor protein Gene

NOS1AP - nitric oxide synthase 1 adaptor protein Gene

中文名称:一氧化氮合酶 1 衔接蛋白

种属: Homo sapiens

同用名: CAPON; NPHS22; 6330408P19Rik

基因 ID: 9722 | 基因类型: protein coding

关于 NOS1AP

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:162,069,691-162,370,475 (from NCBI)

This gene has 6 transcripts (splice variants), 220 orthologues, 11 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 5.4), adrenal (RPKM 1.1) and 11 other tissues.

功能概要

该基因编码一种与信号分子神经元一氧化氮合酶 (nNOS) 结合的胞质蛋白。该蛋白具有介导与 nNOS 相互作用的 C 末端 PDZ 结合结构域和与小单体 G 蛋白 Dexras1 结合的 N 末端磷酸酪氨酸结合 (PTB) 结构域。对小鼠和大鼠相关蛋白的研究表明,该蛋白作为衔接蛋白发挥作用,将 nNOS 连接到特定靶标,例如 Dexras1 和突触蛋白。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2009 年 9 月]

This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2009]

NOS1AP 基因产物(3)

mRNA Protein Name
NM_001126060.2 NP_001119532.2 carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein isoform 2
NM_001164757.2 NP_001158229.1 carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein isoform 3
NM_014697.3 NP_055512.1 carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in postsynaptic actin cytoskeleton organization IDA
IDA: 通过直接分析推断
26869880 GOA
involved in postsynaptic actin cytoskeleton organization IEP
IEP: 通过表达模式推断
26869880 GOA
involved in postsynaptic actin cytoskeleton organization IMP
IMP: 通过突变表型推断
26869880 GOA
involved in regulation of heart rate by chemical signal IMP
IMP: 通过突变表型推断
19247217 GOA
involved in regulation of ventricular cardiac muscle cell membrane repolarization IMP
IMP: 通过突变表型推断
19247217 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in glutamatergic synapse IDA
IDA: 通过直接分析推断
26869880 GOA
is active in glutamatergic synapse IMP
IMP: 通过突变表型推断
26869880 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

NOS1AP 蛋白结构

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (32 - 174)

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

carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein

C-terminal PDZ domain ligand of neuronal nitric oxide synthase (CAPON)

关联疾病

疾病名称 别名
Nephrotic Syndrome, Type 22

NPHS22

Nephrotic Syndrome Type 22

Nephrotic Syndrome 22

Paranoid Personality Disorder
Long Qt Syndrome 1

Romano-Ward Syndrome

LQT1

Ward-Romano Syndrome

Rws

Ventricular Fibrillation With Prolonged Qt Interval

Wrs

Long Qt Syndrome 1, Acquired, Susceptibility To

Long Qt Syndrome 1, Acquired

Romano-Ward Long Qt Syndrome

Long Qt Syndrome Type 1

Long Qt Syndrome-1

Acquired Susceptibility To Long Qt Syndrome 1

Qt Syndrome, Long, Type 1

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

Personality Disorder

Personality Disorders

Character Disorder

Personality

Specific Personality Disorders

Enduring Personality Change After Psychiatric Illness

Acute Ethmoiditis

Acute Ethmoidal Sinusitis

Acute Ethmoid Sinusitis

Ethmoidal Sinus - Acute

Short Qt Syndrome

Sqts

Familial Short Qt Syndrome

Long Qt Syndrome 13

LQT13

Qt Syndrome, Long, Type 13

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Long Qt Syndrome 2

LQT2

Long Qt Syndrome, Acquired, Reduced Susceptibility To

Long Qt Syndrome 1/2

Long Qt Syndrome 2/3

Long Qt Syndrome 2/5

Long Qt Syndrome 2, Acquired, Susceptibility To

Long Qt Syndrome, Acquired, Reduced

Long Qt Syndrome Type 2

Long Qt Syndrome 2/9

Lqt1/2

Lqt2/3

Lqt2/5

Lqt2/9

Susceptibility To Acquired Long Qt Syndrome 2

Long Qt Syndrome-2

Qt Syndrome, Long, Type 2

Long Qt Syndrome 1-2

Long Qt Syndrome 2-3

Long Qt Syndrome 2-5

Long Qt Syndrome 9

Sudden Infant Death Syndrome

SIDS

Sudden Infant Death Syndrome, Susceptibility To

Cot Death

Crib Death

Sudden Death Of Nonspecific Cause In Infancy

Sudden Infant Death

Death, Sudden, Syndrome, Infant

Long Qt Syndrome 3

LQT3

Long Qt Syndrome Type 3

Long Qt Syndrome-3

Qt Syndrome, Long, Type 3

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt

Catecholamine-Induced Polymorphic Ventricular Tachycardia

Familial Polymorphic Ventricular Tachycardia

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Stress-Induced Polymorphic Ventricular Tachycardia

Bidirectional Tachycardia Induced By Catecholamine

Double Tachycardia Induced By Catecholamines

Polymorphic Catecholergic Ventricular Tachycardia

Syncopal Paroxysmal Tachycardia

Bidirectional Tachycardia Induced By Catecholamines

Fpvt

Bidirectional Ventricular Tachycardia Induced By Catecholamine

Polymorphic Ventricular Tachycardia Induced By Catecholamines

Ventricular Tachycardia, Catecholaminergic Polymorphic

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Familial Ventricular Tachycardia

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

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
Bos taurus NOS1AP VGNC VGNC:55636
Rattus norvegicus NOS1AP RGD RGD:620106
Mus musculus NOS1AP MGD MGI:1917979