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Protein

Gap junction alpha-1 protein

Gene

gja1

Organism
Danio rerio (Zebrafish) (Brachydanio rerio)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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. Plays an essential role in gap junction communication in the ventricles (By similarity).By similarity1 Publication
Plays a role in regulation of fin bone size and growth.1 Publication

GO - Molecular functioni

  • gap junction channel activity Source: ZFIN
  • gap junction hemi-channel activity Source: ZFIN
  • voltage-gated channel activity Source: ZFIN

GO - Biological processi

  • caudal fin morphogenesis Source: ZFIN
  • cell-cell signaling Source: InterPro
  • cell communication Source: ZFIN
  • cell differentiation Source: UniProtKB-KW
  • cell proliferation Source: ZFIN
  • embryonic heart tube development Source: ZFIN
  • embryonic hemopoiesis Source: ZFIN
  • embryonic skeletal joint morphogenesis Source: ZFIN
  • fin morphogenesis Source: ZFIN
  • fin regeneration Source: ZFIN
  • Kupffer's vesicle development Source: ZFIN
  • regulation of transport Source: GOC
  • transmembrane transport Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction alpha-1 protein
Alternative name(s):
Connexin-43
Short name:
Cx43
Short fin protein
Gene namesi
Name:gja1
Synonyms:cx43, shf, sof
OrganismiDanio rerio (Zebrafish) (Brachydanio rerio)
Taxonomic identifieri7955 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiActinopterygiiNeopterygiiTeleosteiOstariophysiCypriniformesCyprinidaeDanio
Proteomesi
  • UP000000437 Componenti: Chromosome 20

Organism-specific databases

ZFINiZDB-GENE-991105-4. cx43.

Subcellular locationi

  • Cell membrane By similarity; Multi-pass membrane protein Sequence analysis
  • Cell junctiongap junction By similarity

  • Note: Localizes at the intercalated disk (ICD) in cardiomyocytes and proper localization at ICD is dependent on TMEM65.By similarity

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini2 – 1312CytoplasmicSequence analysisAdd
BLAST
Transmembranei14 – 3623HelicalSequence analysisAdd
BLAST
Topological domaini37 – 7640ExtracellularSequence analysisAdd
BLAST
Transmembranei77 – 9923HelicalSequence analysisAdd
BLAST
Topological domaini100 – 15455CytoplasmicSequence analysisAdd
BLAST
Transmembranei155 – 17723HelicalSequence analysisAdd
BLAST
Topological domaini178 – 20831ExtracellularSequence analysisAdd
BLAST
Transmembranei209 – 23123HelicalSequence analysisAdd
BLAST
Topological domaini232 – 381150CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • connexon complex Source: ZFIN
  • gap junction Source: ZFIN
  • integral component of membrane Source: UniProtKB-KW
  • intercalated disc Source: UniProtKB
  • plasma membrane Source: ZFIN
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Disruption phenotypei

Morpholino knockdown of the protein results in heart folding defects, reduced hematopoiesis and small eyes.1 Publication

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi30 – 301F → V in shf(j7e1); short fin ray segments. 1 Publication
Mutagenesisi191 – 1911P → S in shf(j7e2); short fin ray segments. 1 Publication
Mutagenesisi209 – 2091F → I in shf(j7e3); short fin ray segments. 1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedBy similarity
Chaini2 – 381380Gap junction alpha-1 proteinPRO_0000057807Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi54 ↔ 192By similarity
Disulfide bondi187 ↔ 198By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiO57474.

Expressioni

Tissue specificityi

Expressed in adult ovary, heart, lens and liver. In growing caudal fins, expressed in cells flanking the germinal region of newly growing segments and in osteoblasts at segment boundaries.3 Publications

Developmental stagei

Expressed both maternally and zygotically. Zygotic expression is initiated before gastrulation and persists through to day 5 of development. Levels increase in late somitogenesis, and late embryonic and early larval stages. Embryonic expression is observed in many developing tissues and organs, including the notochord and brain, and heart and vasculature. Detected throughout the lens at 24 hours post-fertilization (hpf), but by 3-4 days development, restricted to the lateral epithelium and differentiating cells in the equatorial region.2 Publications

Gene expression databases

BgeeiO57474.

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins. Interacts with TMEM65.By similarity

Protein-protein interaction databases

IntActiO57474. 1 interaction.
MINTiMINT-7266077.
STRINGi7955.ENSDARP00000061260.

Structurei

3D structure databases

ProteinModelPortaliO57474.
SMRiO57474. Positions 251-381.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IF97. Eukaryota.
ENOG4110JTW. LUCA.
GeneTreeiENSGT00840000129674.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiO57474.
KOiK07372.
OMAiGANVDMH.
OrthoDBiEOG7P2XSS.
PhylomeDBiO57474.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002261. Connexin43.
IPR013124. Connexin43_C.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiPF00029. Connexin. 1 hit.
PF03508. Connexin43. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01132. CONNEXINA1.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O57474-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MGDWSALGRL LDKVQAYSTA GGKVWLSVLF IFRILVLGTA VESAWGDEQS
60 70 80 90 100
AFKCNTQQPG CENVCYDKSF PISHVRFWVL QIIFVSTPTL LYLAHVFYLM
110 120 130 140 150
RKEEKLNRKE EELKAVQNDG GDVELHLKKI ELKKFKHGLE EHGKVKMKGS
160 170 180 190 200
LLRTYIFSII FKSICEVVFL VIQWYLYGFS LSAVYTCERT PCPHRVDCFL
210 220 230 240 250
SRPTEKTIFI IFMLVVSLFS LLLNIIELFY VLFKRIKDRV KSRQNTQFPT
260 270 280 290 300
GTLSPTPKEL STTKYAYYNG CSSPTAPLSP MSPPGYKLAT GERTNSCRNY
310 320 330 340 350
NKQANEQNWA NYSTEQNRLG QNGSTISNSH AQAFDYPDDT HEHKKLTPGH
360 370 380
ELQPLALIDA RPCSRASSRM SSRARPDDLD V
Length:381
Mass (Da):43,455
Last modified:January 23, 2007 - v3
Checksum:i6120920232CA7527
GO
Isoform 2 (identifier: O57474-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-99: Missing.

Show »
Length:282
Mass (Da):32,309
Checksum:iD7F90D0992F64E1B
GO
Isoform 3 (identifier: O57474-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     13-52: Missing.

Note: Gene prediction based on EST data. No experimental confirmation available.
Show »
Length:341
Mass (Da):39,127
Checksum:i49C13EC31267FCCE
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti179 – 1791F → S in AAH49297 (Ref. 4) Curated
Sequence conflicti341 – 3411H → R in AAH49297 (Ref. 4) Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 9999Missing in isoform 2. 1 PublicationVSP_015552Add
BLAST
Alternative sequencei13 – 5240Missing in isoform 3. CuratedVSP_015553Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF035481 mRNA. Translation: AAC04759.1.
AY313942 Genomic DNA. Translation: AAQ62128.1.
AY340236 Genomic DNA. Translation: AAQ17183.1.
CR352322 Genomic DNA. Translation: CAH69065.1.
CR352322 Genomic DNA. Translation: CAH69066.1.
BC049297 mRNA. Translation: AAH49297.1.
RefSeqiNP_571113.1. NM_131038.1. [O57474-1]
UniGeneiDr.75809.

Genome annotation databases

EnsembliENSDART00000061261; ENSDARP00000061260; ENSDARG00000041799. [O57474-1]
ENSDART00000138569; ENSDARP00000114698; ENSDARG00000041799. [O57474-3]
GeneIDi30236.
KEGGidre:30236.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF035481 mRNA. Translation: AAC04759.1.
AY313942 Genomic DNA. Translation: AAQ62128.1.
AY340236 Genomic DNA. Translation: AAQ17183.1.
CR352322 Genomic DNA. Translation: CAH69065.1.
CR352322 Genomic DNA. Translation: CAH69066.1.
BC049297 mRNA. Translation: AAH49297.1.
RefSeqiNP_571113.1. NM_131038.1. [O57474-1]
UniGeneiDr.75809.

3D structure databases

ProteinModelPortaliO57474.
SMRiO57474. Positions 251-381.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiO57474. 1 interaction.
MINTiMINT-7266077.
STRINGi7955.ENSDARP00000061260.

Proteomic databases

PaxDbiO57474.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSDART00000061261; ENSDARP00000061260; ENSDARG00000041799. [O57474-1]
ENSDART00000138569; ENSDARP00000114698; ENSDARG00000041799. [O57474-3]
GeneIDi30236.
KEGGidre:30236.

Organism-specific databases

CTDi30236.
ZFINiZDB-GENE-991105-4. cx43.

Phylogenomic databases

eggNOGiENOG410IF97. Eukaryota.
ENOG4110JTW. LUCA.
GeneTreeiENSGT00840000129674.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiO57474.
KOiK07372.
OMAiGANVDMH.
OrthoDBiEOG7P2XSS.
PhylomeDBiO57474.
TreeFamiTF329606.

Miscellaneous databases

NextBioi20806690.
PROiO57474.

Gene expression databases

BgeeiO57474.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002261. Connexin43.
IPR013124. Connexin43_C.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiPF00029. Connexin. 1 hit.
PF03508. Connexin43. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01132. CONNEXINA1.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Mutations in connexin43 (GJA1) perturb bone growth in zebrafish fins."
    Iovine M.K., Higgins E.P., Hindes A., Coblitz B., Johnson S.L.
    Dev. Biol. 278:208-219(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, MUTAGENESIS OF PHE-30; PRO-191 AND PHE-209, TISSUE SPECIFICITY, DISRUPTION PHENOTYPE.
    Strain: C32.
  2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), DEVELOPMENTAL STAGE, TISSUE SPECIFICITY.
    Tissue: Embryo.
  3. "The zebrafish reference genome sequence and its relationship to the human genome."
    Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M., Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I., Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.
    , White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y., Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B., Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S., Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M., Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J., Clee C., Oliver K., Clark R., Riddle C., Eliott D., Threadgold G., Harden G., Ware D., Mortimer B., Kerry G., Heath P., Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S., Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J., Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J., Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D., McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S., Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E., Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A., Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P., Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J., Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E., Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C., Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C., Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M., Oberlander M., Rudolph-Geiger S., Teucke M., Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M., Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M., de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C., Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.
    Nature 496:498-503(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Strain: Tuebingen.
  4. NIH - Zebrafish Gene Collection (ZGC) project
    Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Strain: SJD.
  5. "Expression of connexin48.5, connexin44.1, and connexin43 during zebrafish (Danio rerio) lens development."
    Cheng S., Christie T., Valdimarsson G.
    Dev. Dyn. 228:709-715(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.

Entry informationi

Entry nameiCXA1_DANRE
AccessioniPrimary (citable) accession number: O57474
Secondary accession number(s): Q5TYN6, Q7ZTS1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 23, 2007
Last modified: May 11, 2016
This is version 123 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.