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  2. PANX1 - pannexin 1 Gene

PANX1 - pannexin 1 Gene

中文名称:泛联蛋白 1

种属: Homo sapiens

同用名: PX1; MRS1; OOMD7; UNQ2529

基因 ID: 24145 | 基因类型: protein coding

关于 PANX1

Cytogenetic location: 11q21 Genomic coordinates (GRCh38): 11:94,128,841-94,181,968 (from NCBI)

This gene has 2 transcripts (splice variants), 274 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 7.4), appendix (RPKM 5.7) and 25 other tissues.

功能概要

该基因编码的蛋白质属于内联蛋白家族。 Innexin 家族成员是间隙连接的结构成分。这种蛋白质和 pannexin 2 在中枢神经系统 (CNS) 中大量表达,并在各种神经元群中共表达。对非洲爪蟾卵母细胞的研究表明,这种蛋白质单独和与 pannexin 2 结合可能形成具有不同特性的细胞类型特异性间隙连接。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008]

PANX1 基因产物(1)

mRNA Protein Name
NM_015368.4 NP_056183.2 pannexin-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 ATP transmembrane transporter activity IDA
IDA: 通过直接分析推断
15304325 GOA
enables calcium channel activity IMP
IMP: 通过突变表型推断
16908669 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
32231289 GOA
enables leak channel activity IMP
IMP: 通过突变表型推断
16908669 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables signaling receptor binding IPI
IPI: 通过物理相互作用推断
17036048 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ATP transport IDA
IDA: 通过直接分析推断
15304325 GOA
involved in calcium ion transport IMP
IMP: 通过突变表型推断
16908669 GOA
involved in monoatomic cation transport IDA
IDA: 通过直接分析推断
17036048 GOA
involved in positive regulation of interleukin-1 beta production IDA
IDA: 通过直接分析推断
17036048 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in bleb IDA
IDA: 通过直接分析推断
17036048 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
16908669 GOA
located in gap junction IDA
IDA: 通过直接分析推断
16908669 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
17036048 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

PANX1 蛋白结构

Innexin

Innexin: Innexin (33 - 236)

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

pannexin-1

innexin

PANX1 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 PANX1 Q96RD7 SLC38A7 Homo sapiens Q9NVC3
Validated Y2H
32296183
Intra PANX1 Q96RD7 CFHR5 Homo sapiens Q9BXR6
Validated Y2H
32296183
Intra PANX1 Q96RD7 APOL2 Homo sapiens Q9BQE5
Validated Y2H
32296183
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
Oocyte Maturation Defect 7

OOMD7

Oocyte Maturation Defect, Type 7

Female Infertility Due To Oocyte Meiotic Arrest
Intellectual Developmental Disorder, Autosomal Dominant 1

MRD1

Autosomal Dominant Non-Syndromic Intellectual Disability 1

Mental Retardation, Autosomal Dominant 1

Autosomal Dominant Intellectual Developmental Disorder 1

Vertebral Artery Occlusion

Occlusion And Stenosis Of Vertebral Artery

Anterior Spinal Artery Syndrome

Anterior Spinal Artery Occlusion Syndrome

Deafness, Autosomal Dominant 41

DFNA41

Autosomal Dominant Nonsyndromic Deafness 41

Autosomal Dominant Deafness 41

Deafness, Autosomal Dominant, 41

Deafness, Autosomal Dominant, Type 41

Infertility
Basilar Artery Occlusion
Oculodentodigital Dysplasia

Odd Syndrome

ODDD

Oculodentoosseous Dysplasia

Oculodentodigital Syndrome

Odod

Oculo-Dento-Digital Dysplasia

Oculo-Dento-Digital Syndrome

Oculo-Dento-Osseous Dysplasia

Osseous-Oculo-Dental Dysplasia

Meyer-Schwickerath Syndrome

Oddd Syndrome

Oculo Dento Digital Dysplasia

Odds

Oculodentodigital Dysplasia Syndrome

Jejunoileitis
Migraine, Familial Hemiplegic, 1

FHM1

Mhp1

Fhm

Familial Hemiplegic Migraine 1

Migraine, Familial Hemiplegic, 1, With Progressive Cerebellar Ataxia

Familial Hemiplegic Migraine1 With Progressive Cerebellar Ataxia

Migraine Familial Hemiplegic With Progressive Cerebellar Ataxia

Migraine, Hemiplegic, Familial, Type 1

Hemiplegic Migraine, Familial Type 1

Occlusion Precerebral Artery

Occlusion And Stenosis Of Multiple And Bilateral Precerebral Arteries

Occlusion And Stenosis Of Precerebral Artery

Cerebral Arterial Disease

Cerebral Arterial Diseases

Intracranial Berry Aneurysm

Familial Aneurysmal Subarachnoid Hemorrhage

Familial Berry Aneurysm

Familial Intracranial Saccular Aneurysm

Saccular Cerebral Aneurysm

Aneurysm, Intracranial Berry

Aneurysmal Subarachnoid Hemorrhage

Aneurysm, Intracranial Berry, 1

Migraine With Or Without Aura 1

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To

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 PANX1 VGNC VGNC:32567
Felis catus PANX1 VGNC VGNC:68691
Canis familiaris PANX1 VGNC VGNC:44254
Macaca mulatta PANX1 VGNC VGNC:75754
Mus musculus PANX1 MGD MGI:1860055
Rattus norvegicus PANX1 RGD RGD:735204
Others PANX1 NCBI