Reviewed, UniProtKB/Swiss-Prot P36382 (CXA5_HUMAN)

Names and origin

Protein names

Recommended name:
    Gap junction alpha-5 protein
Alternative name(s):
    Connexin-40
      Short name=Cx40

Gene names

Name:

GJA5

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	358 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
Subunit structure	A connexon is composed of a hexamer of connexins.
Subcellular location	Cell membrane; Multi-pass membrane protein. Cell junction › gap junction.
Involvement in disease	Defects in GJA5 are a cause of idiopathic atrial fibrillation [MIM:108770]. Atrial fibrillation (AF) is the most common cardiac arrhythmia and is characterized by rapid and irregular activation of the atrium.
Sequence similarities	Belongs to the connexin family. Alpha-type (group II) subfamily.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Gap junction Membrane
Disease	Disease mutation
Domain	Transmembrane
Gene Ontology (GO)
Biological process	cell communication Inferred from electronic annotation. Source: InterPro cell-cell junction assembly Ref.1 Traceable author statement. Source: ProtInc muscle contraction Ref.1 Traceable author statement. Source: ProtInc transport Ref.1 Non-traceable author statement. Source: ProtInc
Cellular component	connexon complex Inferred from electronic annotation. Source: InterPro integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed By similarity
	Chain	2 – 358	357	Gap junction alpha-5 protein		PRO_0000057819
Regions
	Topological domain	2 – 19	18	Cytoplasmic Potential
	Transmembrane	20 – 40	21	Potential
	Topological domain	41 – 76	36	Extracellular Potential
	Transmembrane	77 – 97	21	Potential
	Topological domain	98 – 164	67	Cytoplasmic Potential
	Transmembrane	165 – 185	21	Potential
	Topological domain	186 – 205	20	Extracellular Potential
	Transmembrane	206 – 226	21	Potential
	Topological domain	227 – 358	132	Cytoplasmic Potential
Natural variations
	Natural variant	88	1	P → S in atrial fibrillation; idiopatic somatic. Ref.8		VAR_035013
	Natural variant	96	1	A → S in atrial fibrillation; idiopatic. Ref.8		VAR_035014

Sequences

	Sequence		Length	Mass (Da)
	P36382-1 [UniParc]. Last modified January 23, 2007. Version 3. Checksum: DE9DD863C130229A	FASTA	358	40,380
	10 20 30 40 50 60 MGDWSFLGNF LEEVHKHSTV VGKVWLTVLF IFRMLVLGTA AESSWGDEQA DFRCDTIQPG 70 80 90 100 110 120 CQNVCYDQAF PISHIRYWVL QIIFVSTPSL VYMGHAMHTV RMQEKRKLRE AERAKEVRGS 130 140 150 160 170 180 GSYEYPVAEK AELSCWEEGN GRIALQGTLL NTYVCSILIR TTMEVGFIVG QYFIYGIFLT 190 200 210 220 230 240 TLHVCRRSPC PHPVNCYVSR PTEKNVFIVF MLAVAALSLL LSLAELYHLG WKKIRQRFVK 250 260 270 280 290 300 PRQHMAKCQL SGPSVGIVQS CTPPPDFNQC LENGPGGKFF NPFSNNMASQ QNTDNLVTEQ 310 320 330 340 350 VRGQEQTPGE GFIQVRYGQK PEVPNGVSPG HRLPHGYHSD KRRLSKASSK ARSDDLSV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45." Kanter H.L., Saffitz J.E., Beyer E.C. J. Mol. Cell. Cardiol. 26:861-868(1994) [PubMed: 7966354] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	Beyer E.C., Christensen E.A. Submitted (OCT-1999) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION.
[3]	"Nucleotide sequence of protein-coding region of human connexin 40 gene." Lin H.H., Jin N., Kiang D.T. Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]	"Sporadic cases of dilated cardiomyopathies associated with atrioventricular conduction defects are not linked to mutation within the connexins 40 and 43 genes." Haefliger J.-A., Goy J.J., Waeber G. Eur. Heart J. 20:1843-1843(1999) [PubMed: 10581143] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[6]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Placenta.
[8]	"Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation." Gollob M.H., Jones D.L., Krahn A.D., Danis L., Gong X.Q., Shao Q., Liu X., Veinot J.P., Tang A.S., Stewart A.F., Tesson F., Klein G.J., Yee R., Skanes A.C., Guiraudon G.M., Ebihara L., Bai D. N. Engl. J. Med. 354:2677-2688(2006) [PubMed: 16790700] [Abstract] Cited for: VARIANTS ATRIAL FIBRILLATION SER-88 AND SER-96.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	U03486 Genomic DNA. Translation: AAA60457.2. L34954 Genomic DNA. Translation: AAA91833.1. AF151979 Genomic DNA. Translation: AAD37801.1. BT019415 mRNA. Translation: AAV38222.1. BT019416 mRNA. Translation: AAV38223.1. AL365260 Genomic DNA. Translation: CAI14124.1. AL365260 Genomic DNA. Translation: CAI14125.1. BC013313 mRNA. Translation: AAH13313.1.
IPI	IPI00217262.
PIR	I38429.
RefSeq	NP_005257.2. NP_859054.1.
UniGene	Hs.447968
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	P36382. 1 interaction.
Proteomic databases
PRIDE	P36382.
Genome annotation databases
Ensembl	ENSG00000143140. Homo sapiens. [Contig view]
GeneID	2702.
KEGG	hsa:2702.
Organism-specific databases
GeneCards	GC01M145695.
H-InvDB	HIX0000990.
HGNC	HGNC:4279. GJA5.
HPA	CAB013080.
MIM	108770. phenotype. 121013. gene.
Orphanet	1344. Atrial cardiomyopathy with heart block.
PharmGKB	PA28690.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P36382.
HOVERGEN	P36382.
OMA	P36382. DNLATEQ.
Enzyme and pathway databases
Reactome	REACT_9480. Gap junction trafficking and regulation.
Gene expression databases
ArrayExpress	P36382.
Bgee	P36382.
CleanEx	HS_GJA5.
GermOnline	ENSG00000143140. Homo sapiens.
Family and domain databases
InterPro	IPR000500. Connexin. IPR002264. Connexin40. IPR017992. Connexin40_rgn. IPR019570. Connexin_CCC. IPR017990. Connexin_CS. IPR013092. Connexin_N. IPR017991. connexins_rgn. [Graphical view]
PANTHER	PTHR11984. Connexin. 1 hit. PTHR11984:SF13. Connexin40. 1 hit.
Pfam	PF00029. Connexin. 1 hit. PF10582. Connexin_CCC. 1 hit. [Graphical view]
PRINTS	PR00206. CONNEXIN. PR01135. CONNEXINA5.
SMART	SM00037. CNX. 1 hit. [Graphical view]
PROSITE	PS00407. CONNEXINS_1. 1 hit. PS00408. CONNEXINS_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	10682.
SOURCE	Search...

Entry information

Entry name

CXA5_HUMAN

Accession

Primary (citable) accession number: P36382
Secondary accession number(s): Q5T3B6, Q5U0N6

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	January 23, 2007
Last modified:	June 16, 2009
This is version 83 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)