Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	24145
Gene name Gene Name - the full gene name approved by the HGNC.	Pannexin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PANX1
Synonyms (NCBI Gene) Gene synonyms aliases	MRS1, OOMD7, OZEMA7, PX1, UNQ2529
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q21
Summary Summary of gene provided in NCBI Entrez Gene.	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 neuron

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1212949833	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs1591499598	CGGAGCCCA>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, inframe deletion
rs1591529130	A>G	Pathogenic	Coding sequence variant, missense variant
rs1591529258	C>T	Pathogenic	Coding sequence variant, stop gained

Show/Hide all(187)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001433	hsa-miR-16-5p	pSILAC	18668040
MIRT004125	hsa-miR-192-5p	Microarray	16822819
MIRT021301	hsa-miR-125a-5p	Sequencing	20371350
MIRT025607	hsa-miR-10a-5p	Sequencing	20371350
MIRT004125	hsa-miR-192-5p	Microarray	19074876
MIRT001433	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT535518	hsa-miR-548n	PAR-CLIP	22012620
MIRT535517	hsa-miR-548az-5p	PAR-CLIP	22012620
MIRT535516	hsa-miR-548t-5p	PAR-CLIP	22012620
MIRT535515	hsa-miR-548a-5p	PAR-CLIP	22012620
MIRT535514	hsa-miR-548ab	PAR-CLIP	22012620
MIRT535513	hsa-miR-548ad-5p	PAR-CLIP	22012620
MIRT535512	hsa-miR-548ae-5p	PAR-CLIP	22012620
MIRT535511	hsa-miR-548ak	PAR-CLIP	22012620
MIRT535510	hsa-miR-548am-5p	PAR-CLIP	22012620
MIRT535509	hsa-miR-548ap-5p	PAR-CLIP	22012620
MIRT535508	hsa-miR-548aq-5p	PAR-CLIP	22012620
MIRT535507	hsa-miR-548ar-5p	PAR-CLIP	22012620
MIRT535506	hsa-miR-548as-5p	PAR-CLIP	22012620
MIRT535505	hsa-miR-548au-5p	PAR-CLIP	22012620
MIRT535504	hsa-miR-548ay-5p	PAR-CLIP	22012620
MIRT535503	hsa-miR-548b-5p	PAR-CLIP	22012620
MIRT535502	hsa-miR-548bb-5p	PAR-CLIP	22012620
MIRT535501	hsa-miR-548c-5p	PAR-CLIP	22012620
MIRT535500	hsa-miR-548d-5p	PAR-CLIP	22012620
MIRT535499	hsa-miR-548h-5p	PAR-CLIP	22012620
MIRT535498	hsa-miR-548i	PAR-CLIP	22012620
MIRT535497	hsa-miR-548j-5p	PAR-CLIP	22012620
MIRT535496	hsa-miR-548o-5p	PAR-CLIP	22012620
MIRT535495	hsa-miR-548w	PAR-CLIP	22012620
MIRT535494	hsa-miR-548y	PAR-CLIP	22012620
MIRT535493	hsa-miR-559	PAR-CLIP	22012620
MIRT535492	hsa-miR-890	PAR-CLIP	22012620
MIRT535518	hsa-miR-548n	PAR-CLIP	22012620
MIRT535517	hsa-miR-548az-5p	PAR-CLIP	22012620
MIRT535516	hsa-miR-548t-5p	PAR-CLIP	22012620
MIRT535515	hsa-miR-548a-5p	PAR-CLIP	22012620
MIRT535514	hsa-miR-548ab	PAR-CLIP	22012620
MIRT535513	hsa-miR-548ad-5p	PAR-CLIP	22012620
MIRT535512	hsa-miR-548ae-5p	PAR-CLIP	22012620
MIRT535511	hsa-miR-548ak	PAR-CLIP	22012620
MIRT535510	hsa-miR-548am-5p	PAR-CLIP	22012620
MIRT535509	hsa-miR-548ap-5p	PAR-CLIP	22012620
MIRT535508	hsa-miR-548aq-5p	PAR-CLIP	22012620
MIRT535507	hsa-miR-548ar-5p	PAR-CLIP	22012620
MIRT535506	hsa-miR-548as-5p	PAR-CLIP	22012620
MIRT535505	hsa-miR-548au-5p	PAR-CLIP	22012620
MIRT535504	hsa-miR-548ay-5p	PAR-CLIP	22012620
MIRT535503	hsa-miR-548b-5p	PAR-CLIP	22012620
MIRT535502	hsa-miR-548bb-5p	PAR-CLIP	22012620
MIRT535501	hsa-miR-548c-5p	PAR-CLIP	22012620
MIRT535500	hsa-miR-548d-5p	PAR-CLIP	22012620
MIRT535499	hsa-miR-548h-5p	PAR-CLIP	22012620
MIRT535498	hsa-miR-548i	PAR-CLIP	22012620
MIRT535497	hsa-miR-548j-5p	PAR-CLIP	22012620
MIRT535496	hsa-miR-548o-5p	PAR-CLIP	22012620
MIRT535495	hsa-miR-548w	PAR-CLIP	22012620
MIRT535494	hsa-miR-548y	PAR-CLIP	22012620
MIRT535493	hsa-miR-559	PAR-CLIP	22012620
MIRT535492	hsa-miR-890	PAR-CLIP	22012620
MIRT1212394	hsa-miR-10a	CLIP-seq
MIRT1212395	hsa-miR-10b	CLIP-seq
MIRT1212396	hsa-miR-1208	CLIP-seq
MIRT1212397	hsa-miR-1257	CLIP-seq
MIRT1212398	hsa-miR-1276	CLIP-seq
MIRT1212399	hsa-miR-219-2-3p	CLIP-seq
MIRT1212400	hsa-miR-224	CLIP-seq
MIRT1212401	hsa-miR-2964a-3p	CLIP-seq
MIRT1212402	hsa-miR-298	CLIP-seq
MIRT1212403	hsa-miR-3161	CLIP-seq
MIRT1212404	hsa-miR-3616-5p	CLIP-seq
MIRT1212405	hsa-miR-362-5p	CLIP-seq
MIRT1212406	hsa-miR-3647-5p	CLIP-seq
MIRT1212407	hsa-miR-374a	CLIP-seq
MIRT1212408	hsa-miR-374b	CLIP-seq
MIRT1212409	hsa-miR-3919	CLIP-seq
MIRT1212410	hsa-miR-4311	CLIP-seq
MIRT1212411	hsa-miR-4495	CLIP-seq
MIRT1212412	hsa-miR-4680-3p	CLIP-seq
MIRT1212413	hsa-miR-4729	CLIP-seq
MIRT1212414	hsa-miR-4732-3p	CLIP-seq
MIRT1212415	hsa-miR-4760-5p	CLIP-seq
MIRT1212416	hsa-miR-4762-5p	CLIP-seq
MIRT1212417	hsa-miR-4795-3p	CLIP-seq
MIRT1212418	hsa-miR-500b	CLIP-seq
MIRT1212419	hsa-miR-501-5p	CLIP-seq
MIRT1212420	hsa-miR-511	CLIP-seq
MIRT1212421	hsa-miR-549	CLIP-seq
MIRT1212422	hsa-miR-570	CLIP-seq
MIRT1212423	hsa-miR-573	CLIP-seq
MIRT1212424	hsa-miR-583	CLIP-seq
MIRT1212425	hsa-miR-605	CLIP-seq
MIRT1212426	hsa-miR-656	CLIP-seq
MIRT2060998	hsa-miR-3910	CLIP-seq
MIRT2060999	hsa-miR-4265	CLIP-seq
MIRT2061000	hsa-miR-4296	CLIP-seq
MIRT2061001	hsa-miR-4322	CLIP-seq
MIRT2061002	hsa-miR-4417	CLIP-seq
MIRT2061003	hsa-miR-4640-5p	CLIP-seq
MIRT2061004	hsa-miR-4726-5p	CLIP-seq
MIRT1212417	hsa-miR-4795-3p	CLIP-seq
MIRT2061005	hsa-miR-574-5p	CLIP-seq
MIRT2289694	hsa-miR-124	CLIP-seq
MIRT2289695	hsa-miR-128	CLIP-seq
MIRT2289696	hsa-miR-130a	CLIP-seq
MIRT2289697	hsa-miR-130b	CLIP-seq
MIRT2289698	hsa-miR-148a	CLIP-seq
MIRT2289699	hsa-miR-148b	CLIP-seq
MIRT2289700	hsa-miR-152	CLIP-seq
MIRT2289701	hsa-miR-301a	CLIP-seq
MIRT2289702	hsa-miR-301b	CLIP-seq
MIRT2289703	hsa-miR-3065-5p	CLIP-seq
MIRT2289704	hsa-miR-3162-5p	CLIP-seq
MIRT2289705	hsa-miR-342-5p	CLIP-seq
MIRT2289706	hsa-miR-3617	CLIP-seq
MIRT2289707	hsa-miR-3666	CLIP-seq
MIRT2289708	hsa-miR-3922-5p	CLIP-seq
MIRT2060999	hsa-miR-4265	CLIP-seq
MIRT2289709	hsa-miR-4295	CLIP-seq
MIRT2061000	hsa-miR-4296	CLIP-seq
MIRT2061001	hsa-miR-4322	CLIP-seq
MIRT2061002	hsa-miR-4417	CLIP-seq
MIRT1212411	hsa-miR-4495	CLIP-seq
MIRT2289710	hsa-miR-454	CLIP-seq
MIRT2289711	hsa-miR-4662a-5p	CLIP-seq
MIRT2289712	hsa-miR-4664-5p	CLIP-seq
MIRT1212417	hsa-miR-4795-3p	CLIP-seq
MIRT2289713	hsa-miR-4797-3p	CLIP-seq
MIRT2289714	hsa-miR-506	CLIP-seq
MIRT2061005	hsa-miR-574-5p	CLIP-seq
MIRT2289715	hsa-miR-587	CLIP-seq
MIRT1212425	hsa-miR-605	CLIP-seq
MIRT2289716	hsa-miR-641	CLIP-seq
MIRT2289717	hsa-miR-885-5p	CLIP-seq
MIRT2587457	hsa-miR-1179	CLIP-seq
MIRT2587458	hsa-miR-1197	CLIP-seq
MIRT2587459	hsa-miR-1246	CLIP-seq
MIRT2587460	hsa-miR-125a-3p	CLIP-seq
MIRT2587461	hsa-miR-1266	CLIP-seq
MIRT2587462	hsa-miR-2115	CLIP-seq
MIRT2587463	hsa-miR-2355-5p	CLIP-seq
MIRT2587464	hsa-miR-2964a-5p	CLIP-seq
MIRT2587465	hsa-miR-3117-3p	CLIP-seq
MIRT2587466	hsa-miR-3182	CLIP-seq
MIRT2587467	hsa-miR-337-3p	CLIP-seq
MIRT2587468	hsa-miR-3664-3p	CLIP-seq
MIRT2587469	hsa-miR-3675-3p	CLIP-seq
MIRT2587470	hsa-miR-3679-3p	CLIP-seq
MIRT2587471	hsa-miR-378g	CLIP-seq
MIRT2587472	hsa-miR-3934	CLIP-seq
MIRT2587473	hsa-miR-3941	CLIP-seq
MIRT2587474	hsa-miR-4286	CLIP-seq
MIRT2587475	hsa-miR-4437	CLIP-seq
MIRT2587476	hsa-miR-4518	CLIP-seq
MIRT2587477	hsa-miR-4643	CLIP-seq
MIRT2587478	hsa-miR-466	CLIP-seq
MIRT2289711	hsa-miR-4662a-5p	CLIP-seq
MIRT2587479	hsa-miR-4672	CLIP-seq
MIRT2587480	hsa-miR-4674	CLIP-seq
MIRT2587481	hsa-miR-4676-5p	CLIP-seq
MIRT2587482	hsa-miR-4677-3p	CLIP-seq
MIRT2587483	hsa-miR-4679	CLIP-seq
MIRT2587484	hsa-miR-4747-5p	CLIP-seq
MIRT2587485	hsa-miR-4789-3p	CLIP-seq
MIRT1212417	hsa-miR-4795-3p	CLIP-seq
MIRT2587486	hsa-miR-516a-3p	CLIP-seq
MIRT2587487	hsa-miR-575	CLIP-seq
MIRT2289715	hsa-miR-587	CLIP-seq
MIRT2587488	hsa-miR-653	CLIP-seq
MIRT2587489	hsa-miR-671-5p	CLIP-seq
MIRT2587490	hsa-miR-764	CLIP-seq
MIRT2587460	hsa-miR-125a-3p	CLIP-seq
MIRT2587461	hsa-miR-1266	CLIP-seq
MIRT2587462	hsa-miR-2115	CLIP-seq
MIRT2587467	hsa-miR-337-3p	CLIP-seq
MIRT2587468	hsa-miR-3664-3p	CLIP-seq
MIRT2587469	hsa-miR-3675-3p	CLIP-seq
MIRT2587472	hsa-miR-3934	CLIP-seq
MIRT2587473	hsa-miR-3941	CLIP-seq
MIRT2587476	hsa-miR-4518	CLIP-seq
MIRT2587477	hsa-miR-4643	CLIP-seq
MIRT2587478	hsa-miR-466	CLIP-seq
MIRT2587479	hsa-miR-4672	CLIP-seq
MIRT2587484	hsa-miR-4747-5p	CLIP-seq
MIRT2587485	hsa-miR-4789-3p	CLIP-seq
MIRT2587486	hsa-miR-516a-3p	CLIP-seq
MIRT2587490	hsa-miR-764	CLIP-seq

Show/Hide all(55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IEA
GO:0002931	Process	Response to ischemia	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005102	Function	Signaling receptor binding	IPI	17036048
GO:0005198	Function	Structural molecule activity	IEA
GO:0005198	Function	Structural molecule activity	ISS
GO:0005243	Function	Gap junction channel activity	IEA
GO:0005253	Function	Monoatomic anion channel activity	IEA
GO:0005253	Function	Monoatomic anion channel activity	ISS
GO:0005262	Function	Calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	IMP	16908669
GO:0005347	Function	ATP transmembrane transporter activity	IDA	15304325
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IDA	16908669
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	17036048
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005921	Component	Gap junction	IDA	16908669, 17715132
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IBA
GO:0006812	Process	Monoatomic cation transport	IDA	17036048
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	IMP	16908669
GO:0007267	Process	Cell-cell signaling	IBA
GO:0007267	Process	Cell-cell signaling	IEA
GO:0015267	Function	Channel activity	IEA
GO:0015867	Process	ATP transport	IDA	15304325
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0022829	Function	Wide pore channel activity	IBA
GO:0022840	Function	Leak channel activity	IMP	16908669
GO:0030154	Process	Cell differentiation	IEA
GO:0032059	Component	Bleb	IDA	17036048
GO:0032730	Process	Positive regulation of interleukin-1 alpha production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IDA	17036048
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0032732	Process	Positive regulation of interleukin-1 production	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0033198	Process	Response to ATP	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0042802	Function	Identical protein binding	IPI	32231289, 32494015
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0048477	Process	Oogenesis	IEA
GO:0051015	Function	Actin filament binding	IEA
GO:0055077	Function	Gap junction hemi-channel activity	ISS
GO:0060907	Process	Positive regulation of macrophage cytokine production	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0097110	Function	Scaffold protein binding	IEA
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0098656	Process	Monoatomic anion transmembrane transport	ISS

MIM	HGNC	e!Ensembl
608420	8599	ENSG00000110218

Protein

UniProt ID

Q96RD7

Protein name

Pannexin-1 (PANX1) [Cleaved into: Caspase-activated pannexin-1 (Caspase-activated PANX1)]

Protein function

Ion channel involved in a variety of physiological functions such as blood pressure regulation, apoptotic cell clearance and oogenesis (PubMed:15304325, PubMed:16908669, PubMed:20829356, PubMed:20944749, PubMed:30918116). Forms anion-selective c

PDB

6LTN , 6LTO , 6M02 , 6M66 , 6M67 , 6M68 , 6V6D , 6WBF , 6WBG , 6WBI , 6WBK , 6WBL , 6WBM , 6WBN , 7DWB , 7F8J , 7F8N , 7F8O , 7WSV , 8GTS , 8GTT , 8GYO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00876	Innexin	33 → 263	Innexin	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:30918116). Highest expression is observed in oocytes and brain (PubMed:30918116). Detected at very low levels in sperm cells (PubMed:30918116). {ECO:0000269|PubMed:30918116}.

Sequence

MAIAQLATEYVFSDFLLKEPTEPKFKGLRLELAVDKMVTCIAVGLPLLLISLAFAQEISI
GTQISCFSPSSFSWRQAAFVDSYCWAAVQQKNSLQSESGNLPLWLHKFFPYILLLFAILL
YLPPLFWRFAAAPHICSDLKFIMEELDKVYNRAIKAAKSARDLDMRDGACSVPGVTENLG
QSLWEVSESHFKYPIVEQYLKTKKNSNNLIIKYISCRLLTLIIILLACIYLGYYFSLSSL
SDEFVCSIKSGILRNDSTVPDQFQCKLIAVGIFQLLSVINLVVYVLLAPVVVYTLFVPFR
QKTDVLKVYEILPTFDVLHFKSEGYNDLSLYNLFLEENISEVKSYKCLKVLENIKSSGQG
IDPMLLLTNLGMIKMDVVDGKTPMSAEMREEQGNQTAELQGMNIDSETKANNGEKNARQR
LLDSSC

Sequence length

426

Interactions

View interactions

	KEGG		Reactome
	Efferocytosis NOD-like receptor signaling pathway		Electric Transmission Across Gap Junctions The NLRP3 inflammasome

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Oocyte Maturation Defect	Oocyte maturation defect 7	rs1212949833, rs1591529130, rs1591499598, rs1591529258	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Hypothyroidism	Hypothyroidism	N/A	N/A	GWAS

Show/Hide Text Mining Associations (41)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Achalasia Addisonianism Alacrimia syndrome	Stimulate	35315432
Adenocarcinoma of Lung	Associate	38254708
Aortic Aneurysm	Stimulate	35315432
Aortic Aneurysm Abdominal	Associate	35315432
Breast Neoplasms	Associate	33405952
Calcinosis Cutis	Inhibit	36833374
Carcinogenesis	Associate	35682601
Colorectal Neoplasms	Associate	38195677
COVID 19	Stimulate	35091759
Death	Associate	35834089, 36248807, 36469255
Dyspnea	Associate	27349457
Endometrial Neoplasms	Associate	36601599
Epilepsy	Associate	28036289, 36037373
Focal Cortical Dysplasia	Stimulate	28036289
Infertility	Associate	36469255
Infertility Female	Associate	35834089, 36469255
Inflammation	Associate	35315432, 37764262
Intracranial Aneurysm	Associate	36248807
Leukemia	Associate	25112874
Liver Diseases	Associate	34218459
Lung Neoplasms	Associate	39600278
Lymphoma Large B Cell Diffuse	Associate	23531283
Malformations of Cortical Development	Associate	28036289
Melanoma	Associate	33405952
Mitochondrial Diseases	Associate	36647737
Neoplasms	Associate	23531283, 25112874, 28461585, 33405952, 34135208, 34796785, 36833374, 37385076, 38195677
Neoplasms Glandular and Epithelial	Associate	35682601
Neuralgia	Associate	36037373
Neurologic Manifestations	Associate	36037373
Pancreatic Neoplasms	Associate	34796785
Peritonitis	Associate	36469255
Polymicrogyria	Associate	37486637
Pulmonary Disease Chronic Obstructive	Associate	30111857
Rectal Neoplasms	Associate	36414988
Renal Insufficiency	Associate	36469255
Retinoblastoma	Associate	35682601
Rhabdomyosarcoma	Inhibit	33564071
Seizures	Associate	28036289
Squamous Cell Carcinoma of Head and Neck	Associate	36833374
Stomach Neoplasms	Associate	29520031, 34135208
Vascular Diseases	Associate	32023876, 35315432

PANX1 (pannexin 1)