PANX1 pannexin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PANX1provided by HGNC
Official Full Name: pannexin 1provided by HGNC
Primary source: HGNC:HGNC:8599
See related: Ensembl:ENSG00000110218 MIM:608420; AllianceGenome:HGNC:8599
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PX1; MRS1; OOMD7; OZEMA7; UNQ2529
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]
Expression: Ubiquitous expression in brain (RPKM 7.4), appendix (RPKM 5.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q21

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (94128841..94181968)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (94045617..94098852)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (93862007..93915134)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel heterozygous missense variant of PANX1 causes human oocyte death and female infertility.
Title: A novel heterozygous missense variant of PANX1 causes human oocyte death and female infertility.
Human pannexin 1 channel is not phosphorylated by Src tyrosine kinase at Tyr199 and Tyr309.
Title: Human pannexin 1 channel is not phosphorylated by Src tyrosine kinase at Tyr199 and Tyr309.
Hyperactivation of SREBP induces pannexin-1-dependent lytic cell death.
Title: Hyperactivation of SREBP induces pannexin-1-dependent lytic cell death.
Pannexin-1 expression in tumor cells correlates with colon cancer progression and survival.
Title: Pannexin-1 expression in tumor cells correlates with colon cancer progression and survival.
PANX1-mediated ATP release confers FAM3A's suppression effects on hepatic gluconeogenesis and lipogenesis.
Title: PANX1-mediated ATP release confers FAM3A's suppression effects on hepatic gluconeogenesis and lipogenesis.
Ca[2+] permeation through C-terminal cleaved, but not full-length human Pannexin1 hemichannels, mediates cell death.
Title: Ca(2+) permeation through C-terminal cleaved, but not full-length human Pannexin1 hemichannels, mediates cell death.
Reduced Ca[2+] mobilization in neonatal human platelets involves SARAF and pannexin-1.
Title: Reduced Ca(2+) mobilization in neonatal human platelets involves SARAF and pannexin-1.
Differential activation of mouse and human Panx1 channel variants.
Title: Differential activation of mouse and human Panx1 channel variants.
Pannexin 1 Modulates Angiogenic Activities of Human Endothelial Colony-Forming Cells Through IGF-1 Mechanism and Is a Marker of Senescence.
Title: Pannexin 1 Modulates Angiogenic Activities of Human Endothelial Colony-Forming Cells Through IGF-1 Mechanism and Is a Marker of Senescence.
Recent advances in the structure and activation mechanisms of metabolite-releasing Pannexin 1 channels.
Title: Recent advances in the structure and activation mechanisms of metabolite-releasing Pannexin 1 channels.

Submit: New GeneRIF Correction See all GeneRIFs (142)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Oocyte maturation defect 7 MedGen: C5231407 OMIM: 618550 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	ATP is released from HIV-1 target cells through pannexin-1 channels upon interaction between the HIV-1 envelope protein and specific target cell receptors CD4	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-149437 (e-PCR)
- UniSTS:177006

WIAF-1483 (e-PCR)
- UniSTS:22488

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables actin filament binding	IEA Inferred from Electronic Annotation more info
enables calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
NOT enables gap junction hemi-channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables leak channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables monoatomic anion channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables protease binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables scaffold protein binding	IEA Inferred from Electronic Annotation more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	ISS Inferred from Sequence or Structural Similarity more info
enables transmembrane transporter binding	IEA Inferred from Electronic Annotation more info
enables wide pore channel activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in ATP transport	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic anion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in monoatomic cation transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic cation transport	IDA Inferred from Direct Assay more info	PubMed
involved_in oogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-1 alpha production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-1 beta production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of macrophage cytokine production	IEA Inferred from Electronic Annotation more info
involved_in response to ATP	IEA Inferred from Electronic Annotation more info
involved_in response to ischemia	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in bleb	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in gap junction	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: pannexin-1

Names: innexin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.