Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P35212

- CXA4_HUMAN

UniProt

P35212 - CXA4_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Gap junction alpha-4 protein

Gene

GJA4

Organism
Homo sapiens (Human)
Status
Reviewed - 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.

GO - Biological processi

  1. blood vessel development Source: Ensembl
  2. calcium ion transport Source: Ensembl
  3. cell-cell junction assembly Source: ProtInc
  4. cell-cell signaling Source: Ensembl
  5. endothelium development Source: Ensembl
  6. response to pain Source: Ensembl
  7. transport Source: ProtInc
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_9509. Gap junction assembly.

Protein family/group databases

TCDBi1.A.24.1.6. the gap junction-forming connexin (connexin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction alpha-4 protein
Alternative name(s):
Connexin-37
Short name:
Cx37
Gene namesi
Name:GJA4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:4278. GJA4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2020CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei21 – 4020HelicalSequence AnalysisAdd
BLAST
Topological domaini41 – 7636ExtracellularSequence AnalysisAdd
BLAST
Transmembranei77 – 9923HelicalSequence AnalysisAdd
BLAST
Topological domaini100 – 14849CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei149 – 16517HelicalSequence AnalysisAdd
BLAST
Topological domaini166 – 20742ExtracellularSequence AnalysisAdd
BLAST
Transmembranei208 – 23023HelicalSequence AnalysisAdd
BLAST
Topological domaini231 – 333103CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. connexon complex Source: Ensembl
  2. gap junction Source: ProtInc
  3. integral component of plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28689.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 333333Gap junction alpha-4 proteinPRO_0000057814Add
BLAST

Proteomic databases

PaxDbiP35212.
PRIDEiP35212.

PTM databases

PhosphoSiteiP35212.

Expressioni

Tissue specificityi

Expressed in multiple organs and tissues, including heart, uterus, ovary, and blood vessel endothelium.

Gene expression databases

BgeeiP35212.
CleanExiHS_GJA4.
ExpressionAtlasiP35212. baseline and differential.
GenevestigatoriP35212.

Organism-specific databases

HPAiCAB013247.

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins.

Binary interactionsi

WithEntry#Exp.IntActNotes
OPRM1P353722EBI-6918707,EBI-2624570

Protein-protein interaction databases

IntActiP35212. 3 interactions.
STRINGi9606.ENSP00000343676.

Structurei

3D structure databases

ProteinModelPortaliP35212.
SMRiP35212. Positions 3-234.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG39708.
GeneTreeiENSGT00760000118780.
HOVERGENiHBG009576.
InParanoidiP35212.
KOiK07613.
OMAiQNWANLT.
OrthoDBiEOG7P2XSS.
PhylomeDBiP35212.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002263. Connexin37.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01134. CONNEXINA4.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P35212-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MGDWGFLEKL LDQVQEHSTV VGKIWLTVLF IFRILILGLA GESVWGDEQS
60 70 80 90 100
DFECNTAQPG CTNVCYDQAF PISHIRYWVL QFLFVSTPTL VYLGHVIYLS
110 120 130 140 150
RREERLRQKE GELRALPAKD PQVERALAAV ERQMAKISVA EDGRLRIRGA
160 170 180 190 200
LMGTYVASVL CKSVLEAGFL YGQWRLYGWT MEPVFVCQRA PCPYLVDCFV
210 220 230 240 250
SRPTEKTIFI IFMLVVGLIS LVLNLLELVH LLCRCLSRGM RARQGQDAPP
260 270 280 290 300
TQGTSSDPYT DQVFFYLPVG QGPSSPPCPT YNGLSSSEQN WANLTTEERL
310 320 330
ASSRPPLFLD PPPQNGQKPP SRPSSSASKK QYV
Length:333
Mass (Da):37,414
Last modified:January 23, 2007 - v3
Checksum:i93AD224531E5EAD2
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti71 – 711P → S.1 Publication
VAR_009159
Natural varianti128 – 1281A → V.1 Publication
VAR_009160
Natural varianti130 – 1301V → I.3 Publications
Corresponds to variant rs41266431 [ dbSNP | Ensembl ].
VAR_009161
Natural varianti319 – 3191P → S in allele CX37*2. 4 Publications
Corresponds to variant rs1764391 [ dbSNP | Ensembl ].
VAR_009162

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M96789 mRNA. Translation: AAA52558.2.
AF139100 Genomic DNA. Translation: AAD31869.1.
AF139101 Genomic DNA. Translation: AAD31870.1.
AF139102 Genomic DNA. Translation: AAD31871.1.
AF139103 Genomic DNA. Translation: AAD31872.1.
AF139104 Genomic DNA. Translation: AAD31873.1.
AF139105 Genomic DNA. Translation: AAD31874.1.
AF181620 mRNA. Translation: AAD56940.1.
AF132674 Genomic DNA. Translation: AAF62342.1.
AK291563 mRNA. Translation: BAF84252.1.
AL121988 Genomic DNA. Translation: CAB90268.1.
CH471059 Genomic DNA. Translation: EAX07440.1.
CH471059 Genomic DNA. Translation: EAX07441.1.
BC027889 mRNA. Translation: AAH27889.1.
BC072389 mRNA. Translation: AAH72389.1.
CCDSiCCDS30669.1.
PIRiI55593.
RefSeqiNP_002051.2. NM_002060.2.
XP_005270807.1. XM_005270750.1.
UniGeneiHs.296310.

Genome annotation databases

EnsembliENST00000342280; ENSP00000343676; ENSG00000187513.
GeneIDi2701.
KEGGihsa:2701.
UCSCiuc001bya.3. human.

Polymorphism databases

DMDMi8928555.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M96789 mRNA. Translation: AAA52558.2 .
AF139100 Genomic DNA. Translation: AAD31869.1 .
AF139101 Genomic DNA. Translation: AAD31870.1 .
AF139102 Genomic DNA. Translation: AAD31871.1 .
AF139103 Genomic DNA. Translation: AAD31872.1 .
AF139104 Genomic DNA. Translation: AAD31873.1 .
AF139105 Genomic DNA. Translation: AAD31874.1 .
AF181620 mRNA. Translation: AAD56940.1 .
AF132674 Genomic DNA. Translation: AAF62342.1 .
AK291563 mRNA. Translation: BAF84252.1 .
AL121988 Genomic DNA. Translation: CAB90268.1 .
CH471059 Genomic DNA. Translation: EAX07440.1 .
CH471059 Genomic DNA. Translation: EAX07441.1 .
BC027889 mRNA. Translation: AAH27889.1 .
BC072389 mRNA. Translation: AAH72389.1 .
CCDSi CCDS30669.1.
PIRi I55593.
RefSeqi NP_002051.2. NM_002060.2.
XP_005270807.1. XM_005270750.1.
UniGenei Hs.296310.

3D structure databases

ProteinModelPortali P35212.
SMRi P35212. Positions 3-234.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi P35212. 3 interactions.
STRINGi 9606.ENSP00000343676.

Chemistry

GuidetoPHARMACOLOGYi 725.

Protein family/group databases

TCDBi 1.A.24.1.6. the gap junction-forming connexin (connexin) family.

PTM databases

PhosphoSitei P35212.

Polymorphism databases

DMDMi 8928555.

Proteomic databases

PaxDbi P35212.
PRIDEi P35212.

Protocols and materials databases

DNASUi 2701.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000342280 ; ENSP00000343676 ; ENSG00000187513 .
GeneIDi 2701.
KEGGi hsa:2701.
UCSCi uc001bya.3. human.

Organism-specific databases

CTDi 2701.
GeneCardsi GC01P035258.
HGNCi HGNC:4278. GJA4.
HPAi CAB013247.
MIMi 121012. gene.
neXtProti NX_P35212.
PharmGKBi PA28689.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG39708.
GeneTreei ENSGT00760000118780.
HOVERGENi HBG009576.
InParanoidi P35212.
KOi K07613.
OMAi QNWANLT.
OrthoDBi EOG7P2XSS.
PhylomeDBi P35212.
TreeFami TF329606.

Enzyme and pathway databases

Reactomei REACT_9509. Gap junction assembly.

Miscellaneous databases

ChiTaRSi GJA4. human.
GeneWikii GJA4.
GenomeRNAii 2701.
NextBioi 10678.
PROi P35212.
SOURCEi Search...

Gene expression databases

Bgeei P35212.
CleanExi HS_GJA4.
ExpressionAtlasi P35212. baseline and differential.
Genevestigatori P35212.

Family and domain databases

InterProi IPR000500. Connexin.
IPR002263. Connexin37.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view ]
PANTHERi PTHR11984. PTHR11984. 1 hit.
Pfami PF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view ]
PRINTSi PR00206. CONNEXIN.
PR01134. CONNEXINA4.
SMARTi SM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view ]
PROSITEi PS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and functional expression of human connexin37, an endothelial cell gap junction protein."
    Reed K.E., Westphale E.M., Larson D.M., Wang H.-Z., Veenstra R.D., Beyer E.C.
    J. Clin. Invest. 91:997-1004(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. Beyer E.C.
    Submitted (OCT-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  3. "A connexin 37 genotypic variant in atherosclerosis."
    van Zeijl L., Cotgreave I.A.
    Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-71; VAL-128; ILE-130 AND SER-319.
  4. "Functional expression and biophysical properties of two polymorphic forms of human connexin37."
    Kumari S., Varadaraj K., Valiunas V., Ramanan S.V., Beyer E.C., Brink P.R.
    Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ILE-130 AND SER-319.
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Placenta.
  6. "Connexin 37 mutation screening in anovulatory polycystic ovary syndrome."
    Lench N.J., Williams G., Williams E., Gharani N., Franks S.
    Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  7. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "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].
    Tissue: Ovary, Pancreas and Spleen.
  10. "Human connexin 37 is polymorphic but not mutated in tumours."
    Krutovskikh V., Mironov N., Yamasaki H.
    Carcinogenesis 17:1761-1763(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ILE-130.
  11. "A genetic polymorphism in connexin 37 as a prognostic marker for atherosclerotic plaque development."
    Boerma M., Forsberg L., Van Zeijl L., Morgenstern R., De Faire U., Lemne C., Erlinge D., Thulin T., Hong Y., Cotgreave I.A.
    J. Intern. Med. 246:211-218(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SER-319.
  12. "Human hemangiosarcomas have a common polymorphism but no mutations in the connexin37 gene."
    Saito T., Krutovskikh V., Marion M.J., Ishak K.G., Bennett W.P., Yamasaki H.
    Int. J. Cancer 86:67-70(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SER-319.

Entry informationi

Entry nameiCXA4_HUMAN
AccessioniPrimary (citable) accession number: P35212
Secondary accession number(s): A8K698
, D3DPR4, Q9P106, Q9UBL1, Q9UNA9, Q9UNB0, Q9UNB1, Q9Y5N7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1994
Last sequence update: January 23, 2007
Last modified: October 29, 2014
This is version 134 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3