PANX1 - pannexin 1 Gene

Also Known as PX1; MRS1; OOMD7; UNQ2529

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 24145

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_015368.4 NP_056183.2 pannexin-1
Molecular Function GO Annotation Evidence 参考文献 由来
enables ATP transmembrane transporter activity IDA
IDA: Inferred from direct assay
15304325 GOA
enables calcium channel activity IMP
IMP: Inferred from mutant phenotype
16908669 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
32231289 GOA
enables leak channel activity IMP
IMP: Inferred from mutant phenotype
16908669 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables signaling receptor binding IPI
IPI: Inferred from physical interaction
17036048 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in ATP transport IDA
IDA: Inferred from direct assay
15304325 GOA
involved in calcium ion transport IMP
IMP: Inferred from mutant phenotype
16908669 GOA
involved in monoatomic cation transport IDA
IDA: Inferred from direct assay
17036048 GOA
involved in positive regulation of interleukin-1 beta production IDA
IDA: Inferred from direct assay
17036048 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in bleb IDA
IDA: Inferred from direct assay
17036048 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
16908669 GOA
located in gap junction IDA
IDA: Inferred from direct assay
16908669 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
17036048 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PANX1 Protein Structure

Innexin

Innexin: Innexin (33 - 236)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 426 a.a.
Protein Preferred Names Protein Names

pannexin-1

  • innexin

PANX1 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
PANX1 Q96RD7 SLC38A7 Homo sapiens Q9NVC3 32296183
Intra
PANX1 Q96RD7 CFHR5 Homo sapiens Q9BXR6 32296183
Intra
PANX1 Q96RD7 APOL2 Homo sapiens Q9BQE5 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

PANX1 抗体

製品番号 製品名 アプリケーション 反応性
HY-P82904 Pannexin 1 Antibody (YA2649) WB, IP Human

関連疾患

Diseases Alias
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

Diseases Alias
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

Orthologs Information

生物種 Symbol 由来 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