Q96RD7 (PANX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Pannexin-1

Gene names

Name:	PANX1
Synonyms:	MRS1
ORF Names:	UNQ2529/PRO6028

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	426 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Structural component of the gap junctions and the hemichannels. May play a role as a Ca2+-leak channel to regulate ER Ca2+ homeostasis. Ref.8 Ref.10
Subunit structure	Homohexamer. Forms homomeric or PANX1/PANX2-heteromeric intercellular channels on coexpression in paired Xenopus oocytes By similarity. Ref.9
Subcellular location	Cell membrane; Multi-pass membrane protein Potential. Cell junction › gap junction. Endoplasmic reticulum membrane; Multi-pass membrane protein Potential Ref.8 Ref.9.
Post-translational modification	S-nitrosylation inhibits channel currents and ATP release By similarity.
Sequence similarities	Belongs to the pannexin family.

Ontologies

Keywords
Biological process	Calcium transport Ion transport Transport
Cellular component	Cell junction Cell membrane Endoplasmic reticulum Gap junction Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	Calcium
Molecular function	Calcium channel Ion channel
PTM	Glycoprotein S-nitrosylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	innate immune response Traceable author statement. Source: Reactome nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway Traceable author statement. Source: Reactome positive regulation of interleukin-1 alpha secretion Inferred from electronic annotation. Source: Compara positive regulation of interleukin-1 beta secretion Inferred from direct assay PubMed 17036048. Source: BHF-UCL protein hexamerization Inferred from direct assay Ref.9. Source: UniProtKB response to ATP Inferred from electronic annotation. Source: Compara response to ischemia Inferred from electronic annotation. Source: Compara synaptic transmission Traceable author statement. Source: Reactome
Cellular_component	bleb Inferred from direct assay PubMed 17036048. Source: BHF-UCL endoplasmic reticulum Inferred from direct assay Ref.8. Source: UniProtKB endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell gap junction Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from direct assay PubMed 17036048. Source: BHF-UCL protein complex Inferred from electronic annotation. Source: Compara
Molecular_function	calcium channel activity Inferred from mutant phenotype Ref.8. Source: UniProtKB gap junction hemi-channel activity Inferred from direct assay Ref.9. Source: UniProtKB leak channel activity Inferred from mutant phenotype Ref.8. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96RD7-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q96RD7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     401-404: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 426	426	Pannexin-1		PRO_0000208484
Regions
	Topological domain	1 – 40	40	Cytoplasmic Potential
	Transmembrane	41 – 61	21	Helical; Potential
	Topological domain	62 – 106	45	Extracellular Potential
	Transmembrane	107 – 127	21	Helical; Potential
	Topological domain	128 – 217	90	Cytoplasmic Potential
	Transmembrane	218 – 238	21	Helical; Potential
	Topological domain	239 – 266	28	Extracellular Potential
	Transmembrane	267 – 287	21	Helical; Potential
	Topological domain	288 – 426	139	Cytoplasmic Potential
Amino acid modifications
	Modified residue	40	1	S-nitrosocysteine By similarity
	Modified residue	347	1	S-nitrosocysteine By similarity
	Glycosylation	255	1	N-linked (GlcNAc...) Ref.9
Natural variations
	Alternative sequence	401 – 404	4	Missing in isoform 2.		VSP_011476
	Natural variant	5	1	Q → H. Ref.1 Ref.2 Ref.3 Ref.4 Corresponds to variant rs1138800 [ dbSNP | Ensembl ].		VAR_016098
	Natural variant	272	1	I → V. Corresponds to variant rs12793348 [ dbSNP | Ensembl ].		VAR_031225
Experimental info
	Mutagenesis	255	1	N → Q: Impairs glycosylation. Ref.9
	Mutagenesis	347	1	C → S: Leaky hemichannel conductive at resting potential. Ref.10
	Sequence conflict	182 – 185	4	Missing in AAK73361. Ref.7
	Sequence conflict	316	1	D → V in AAK73361. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 11, 2011. Version 4. Checksum: 368B48E0709424FB	FASTA	426	48,050
	10 20 30 40 50 60 MAIAQLATEY VFSDFLLKEP TEPKFKGLRL ELAVDKMVTC IAVGLPLLLI SLAFAQEISI 70 80 90 100 110 120 GTQISCFSPS SFSWRQAAFV DSYCWAAVQQ KNSLQSESGN LPLWLHKFFP YILLLFAILL 130 140 150 160 170 180 YLPPLFWRFA AAPHICSDLK FIMEELDKVY NRAIKAAKSA RDLDMRDGAC SVPGVTENLG 190 200 210 220 230 240 QSLWEVSESH FKYPIVEQYL KTKKNSNNLI IKYISCRLLT LIIILLACIY LGYYFSLSSL 250 260 270 280 290 300 SDEFVCSIKS GILRNDSTVP DQFQCKLIAV GIFQLLSVIN LVVYVLLAPV VVYTLFVPFR 310 320 330 340 350 360 QKTDVLKVYE ILPTFDVLHF KSEGYNDLSL YNLFLEENIS EVKSYKCLKV LENIKSSGQG 370 380 390 400 410 420 IDPMLLLTNL GMIKMDVVDG KTPMSAEMRE EQGNQTAELQ GMNIDSETKA NNGEKNARQR LLDSSC
	Isoform 2 [UniParc]. Checksum: 91800555C528DED0	FASTA	422	47,635
	10 20 30 40 50 60 MAIAQLATEY VFSDFLLKEP TEPKFKGLRL ELAVDKMVTC IAVGLPLLLI SLAFAQEISI 70 80 90 100 110 120 GTQISCFSPS SFSWRQAAFV DSYCWAAVQQ KNSLQSESGN LPLWLHKFFP YILLLFAILL 130 140 150 160 170 180 YLPPLFWRFA AAPHICSDLK FIMEELDKVY NRAIKAAKSA RDLDMRDGAC SVPGVTENLG 190 200 210 220 230 240 QSLWEVSESH FKYPIVEQYL KTKKNSNNLI IKYISCRLLT LIIILLACIY LGYYFSLSSL 250 260 270 280 290 300 SDEFVCSIKS GILRNDSTVP DQFQCKLIAV GIFQLLSVIN LVVYVLLAPV VVYTLFVPFR 310 320 330 340 350 360 QKTDVLKVYE ILPTFDVLHF KSEGYNDLSL YNLFLEENIS EVKSYKCLKV LENIKSSGQG 370 380 390 400 410 420 IDPMLLLTNL GMIKMDVVDG KTPMSAEMRE EQGNQTAELQ DSETKANNGE KNARQRLLDS SC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A novel cDNA of unknown function." Bolger G.B., Steele M.R. Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT HIS-5.
[2]	"The mammalian pannexin family is homologous to the invertebrate innexin gap junction proteins." Baranova A., Ivanov D., Petrash N., Pestova A., Skoblov M., Kelmanson I., Shagin D., Nazarenko S., Geraymovych E., Litvin O., Tiunova A., Born T.L., Usman N., Staroverov D., Lukyanov S., Panchin Y. Genomics 83:706-716(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2), VARIANT HIS-5.
[3]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT HIS-5.
[4]	"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T. DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT HIS-5.
[5]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Bone.
[7]	"Genomic organization of putative human gap junction proteins PANX1 and PANX2." Baranova A.V., Ivanov D.V., Borodina T.A., Panchin Y.V., Shagin D.A., Lukyanov S.A. Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 62-426.
[8]	"Functional implications of calcium permeability of the channel formed by pannexin 1." Vanden Abeele F., Bidaux G., Gordienko D., Beck B., Panchin Y.V., Baranova A.V., Ivanov D.V., Skryma R., Prevarskaya N. J. Cell Biol. 174:535-546(2006) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION.
[9]	"Pannexin1 channels contain a glycosylation site that targets the hexamer to the plasma membrane." Boassa D., Ambrosi C., Qiu F., Dahl G., Gaietta G., Sosinsky G. J. Biol. Chem. 282:31733-31743(2007) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION AT ASN-255, HOMOHEXAMERIZATION, SUBCELLULAR LOCATION, MUTAGENESIS OF ASN-255.
[10]	"Intracellular cysteine 346 is essentially involved in regulating Panx1 channel activity." Bunse S., Schmidt M., Prochnow N., Zoidl G., Dermietzel R. J. Biol. Chem. 285:38444-38452(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, MUTAGENESIS OF CYS-347.
+	Additional computationally mapped references.

Web resources

Wikipedia

Pannexin entry

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF093239 mRNA. Translation: AAC61779.1. AF398509 mRNA. Translation: AAK91714.1. AF398508, AF398506, AF398507 Genomic DNA. Translation: AAK91713.1. AY048509 Genomic DNA. Translation: AAL06604.1. AY359023 mRNA. Translation: AAQ89382.1. AK074897 mRNA. Translation: BAC11276.1. AP003966 Genomic DNA. No translation available. BC016931 mRNA. Translation: AAH16931.1. AH010945 Genomic DNA. Translation: AAK73361.1.
IPI	IPI00455165. IPI00455166.
RefSeq	NP_056183.2. NM_015368.3.
UniGene	Hs.591976.
3D structure databases
ProteinModelPortal	Q96RD7.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-43936N.
MINT	MINT-3379479.
STRING	9606.ENSP00000227638.
Protein family/group databases
TCDB	1.A.25.2.1. gap junction-forming innexin family.
PTM databases
PhosphoSite	Q96RD7.
Polymorphism databases
DMDM	51704331.
Proteomic databases
PaxDb	Q96RD7.
PRIDE	Q96RD7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000227638; ENSP00000227638; ENSG00000110218. ENST00000436171; ENSP00000411461; ENSG00000110218.
GeneID	24145.
KEGG	hsa:24145.
UCSC	uc001peq.3. human. uc001per.3. human.
Organism-specific databases
CTD	24145.
GeneCards	GC11P093862.
H-InvDB	HIX0010028.
HGNC	HGNC:8599. PANX1.
HPA	HPA016930.
MIM	608420. gene.
neXtProt	NX_Q96RD7.
PharmGKB	PA32929.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG39307.
HOVERGEN	HBG053497.
InParanoid	Q96RD7.
KO	K03443.
OMA	ISIGTQI.
OrthoDB	EOG4HT8SW.
PhylomeDB	Q96RD7.
Enzyme and pathway databases
Reactome	REACT_13685. Neuronal System. REACT_6900. Immune System.
Gene expression databases
Bgee	Q96RD7.
CleanEx	HS_PANX1.
Genevestigator	Q96RD7.
GermOnline	ENSG00000110218. Homo sapiens.
Family and domain databases
InterPro	IPR000990. Innexin. [Graphical view]
Pfam	PF00876. Innexin. 1 hit. [Graphical view]
PROSITE	PS51013. PANNEXIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	24145.
NextBio	46835.
SOURCE	Search...

Entry information

Entry name

PANX1_HUMAN

Accession

Primary (citable) accession number: Q96RD7
Secondary accession number(s): O75968 , Q543A0, Q6UW26, Q96AM9, Q96L77, Q96RS5

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 23, 2002
Last sequence update:	January 11, 2011
Last modified:	April 3, 2013
This is version 99 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.