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P35212 (CXA4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 129. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gap junction alpha-4 protein
Alternative name(s):
Connexin-37
Short name=Cx37
Gene names
Name:GJA4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length333 AA.
Sequence statusComplete.
Protein existenceEvidence 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 junctiongap junction.

Tissue specificity

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

Sequence similarities

Belongs to the connexin family. Alpha-type (group II) subfamily.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

OPRM1P353722EBI-6918707,EBI-2624570

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 333333Gap junction alpha-4 protein
PRO_0000057814

Regions

Topological domain1 – 2020Cytoplasmic Potential
Transmembrane21 – 4020Helical; Potential
Topological domain41 – 7636Extracellular Potential
Transmembrane77 – 9923Helical; Potential
Topological domain100 – 14849Cytoplasmic Potential
Transmembrane149 – 16517Helical; Potential
Topological domain166 – 20742Extracellular Potential
Transmembrane208 – 23023Helical; Potential
Topological domain231 – 333103Cytoplasmic Potential

Natural variations

Natural variant711P → S. Ref.3
VAR_009159
Natural variant1281A → V. Ref.3
VAR_009160
Natural variant1301V → I. Ref.3 Ref.4 Ref.10
Corresponds to variant rs41266431 [ dbSNP | Ensembl ].
VAR_009161
Natural variant3191P → S in allele CX37*2. Ref.3 Ref.4 Ref.11 Ref.12
Corresponds to variant rs1764391 [ dbSNP | Ensembl ].
VAR_009162

Sequences

Sequence LengthMass (Da)Tools
P35212 [UniParc].

Last modified January 23, 2007. Version 3.
Checksum: 93AD224531E5EAD2

FASTA33337,414
        10         20         30         40         50         60 
MGDWGFLEKL LDQVQEHSTV VGKIWLTVLF IFRILILGLA GESVWGDEQS DFECNTAQPG 

        70         80         90        100        110        120 
CTNVCYDQAF PISHIRYWVL QFLFVSTPTL VYLGHVIYLS RREERLRQKE GELRALPAKD 

       130        140        150        160        170        180 
PQVERALAAV ERQMAKISVA EDGRLRIRGA LMGTYVASVL CKSVLEAGFL YGQWRLYGWT 

       190        200        210        220        230        240 
MEPVFVCQRA PCPYLVDCFV SRPTEKTIFI IFMLVVGLIS LVLNLLELVH LLCRCLSRGM 

       250        260        270        280        290        300 
RARQGQDAPP TQGTSSDPYT DQVFFYLPVG QGPSSPPCPT YNGLSSSEQN WANLTTEERL 

       310        320        330 
ASSRPPLFLD PPPQNGQKPP SRPSSSASKK QYV 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRI55593.
RefSeqNP_002051.2. NM_002060.2.
XP_005270807.1. XM_005270750.1.
UniGeneHs.296310.

3D structure databases

ProteinModelPortalP35212.
SMRP35212. Positions 3-234, 248-330.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActP35212. 3 interactions.
STRING9606.ENSP00000343676.

Chemistry

GuidetoPHARMACOLOGY725.

Protein family/group databases

TCDB1.A.24.1.6. the gap junction-forming connexin (connexin) family.

PTM databases

PhosphoSiteP35212.

Polymorphism databases

DMDM8928555.

Proteomic databases

PaxDbP35212.
PRIDEP35212.

Protocols and materials databases

DNASU2701.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000342280; ENSP00000343676; ENSG00000187513.
GeneID2701.
KEGGhsa:2701.
UCSCuc001bya.3. human.

Organism-specific databases

CTD2701.
GeneCardsGC01P035258.
HGNCHGNC:4278. GJA4.
HPACAB013247.
MIM121012. gene.
neXtProtNX_P35212.
PharmGKBPA28689.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG39708.
HOVERGENHBG009576.
InParanoidP35212.
KOK07613.
OMAQNWANLT.
OrthoDBEOG7P2XSS.
PhylomeDBP35212.
TreeFamTF329606.

Enzyme and pathway databases

ReactomeREACT_11123. Membrane Trafficking.

Gene expression databases

ArrayExpressP35212.
BgeeP35212.
CleanExHS_GJA4.
GenevestigatorP35212.

Family and domain databases

InterProIPR000500. Connexin.
IPR002263. Connexin37.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERPTHR11984. PTHR11984. 1 hit.
PTHR11984:SF17. PTHR11984:SF17. 1 hit.
PfamPF00029. Connexin. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSPR00206. CONNEXIN.
PR01134. CONNEXINA4.
SMARTSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSGJA4. human.
GeneWikiGJA4.
GenomeRNAi2701.
NextBio10678.
PROP35212.
SOURCESearch...

Entry information

Entry nameCXA4_HUMAN
AccessionPrimary (citable) accession number: P35212
Secondary accession number(s): A8K698 expand/collapse secondary AC list , D3DPR4, Q9P106, Q9UBL1, Q9UNA9, Q9UNB0, Q9UNB1, Q9Y5N7
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1994
Last sequence update: January 23, 2007
Last modified: March 19, 2014
This is version 129 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM