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Protein

Gap junction beta-7 protein

Gene

GJB7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript 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.By similarity1 Publication

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-190861. Gap junction assembly.

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction beta-7 protein
Alternative name(s):
Connexin-25
Short name:
Cx25
Gene namesi
Name:GJB7
Synonyms:CX25
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:16690. GJB7.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1919CytoplasmicSequence analysisAdd
BLAST
Transmembranei20 – 4021HelicalSequence analysisAdd
BLAST
Topological domaini41 – 7535ExtracellularSequence analysisAdd
BLAST
Transmembranei76 – 9621HelicalSequence analysisAdd
BLAST
Topological domaini97 – 12125CytoplasmicSequence analysisAdd
BLAST
Transmembranei122 – 14221HelicalSequence analysisAdd
BLAST
Topological domaini143 – 17735ExtracellularSequence analysisAdd
BLAST
Transmembranei178 – 19821HelicalSequence analysisAdd
BLAST
Topological domaini199 – 22325CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134949515.

Polymorphism and mutation databases

BioMutaiGJB7.
DMDMi74749171.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 223223Gap junction beta-7 proteinPRO_0000271343Add
BLAST

Proteomic databases

PaxDbiQ6PEY0.
PRIDEiQ6PEY0.

Expressioni

Tissue specificityi

Weakly expressed in placenta.1 Publication

Gene expression databases

BgeeiQ6PEY0.
CleanExiHS_GJB7.
ExpressionAtlasiQ6PEY0. baseline and differential.

Interactioni

Subunit structurei

A connexon is composed of a hexamer of connexins.By similarity

Protein-protein interaction databases

BioGridi131983. 51 interactions.
STRINGi9606.ENSP00000296882.

Structurei

3D structure databases

ProteinModelPortaliQ6PEY0.
SMRiQ6PEY0. Positions 3-204.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IHN0. Eukaryota.
ENOG410YZ0T. LUCA.
GeneTreeiENSGT00840000129674.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiQ6PEY0.
KOiK07626.
OMAiFLVLFYK.
OrthoDBiEOG7P2XSS.
PhylomeDBiQ6PEY0.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiPF00029. Connexin. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00408. CONNEXINS_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q6PEY0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSWMFLRDLL SGVNKYSTGT GWIWLAVVFV FRLLVYMVAA EHVWKDEQKE
60 70 80 90 100
FECNSRQPGC KNVCFDDFFP ISQVRLWALQ LIMVSTPSLL VVLHVAYHEG
110 120 130 140 150
REKRHRKKLY VSPGTMDGGL WYAYLISLIV KTGFEIGFLV LFYKLYDGFS
160 170 180 190 200
VPYLIKCDLK PCPNTVDCFI SKPTEKTIFI LFLVITSCLC IVLNFIELSF
210 220
LVLKCFIKCC LQKYLKKPQV LSV
Length:223
Mass (Da):25,860
Last modified:July 5, 2004 - v1
Checksum:i4688BDD75E176CC0
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti43 – 431V → M in CAC93845 (PubMed:12108537).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201T → I.
Corresponds to variant rs4707358 [ dbSNP | Ensembl ].
VAR_047627
Natural varianti177 – 1771T → M.
Corresponds to variant rs41273281 [ dbSNP | Ensembl ].
VAR_061125
Natural varianti206 – 2061F → L.
Corresponds to variant rs6934603 [ dbSNP | Ensembl ].
VAR_047628

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ414563 Genomic DNA. Translation: CAC93845.1.
AK127554 mRNA. Translation: BAG54522.1.
AL160258 Genomic DNA. Translation: CAH70467.1.
BC057813 mRNA. Translation: AAH57813.1.
CCDSiCCDS5008.1.
RefSeqiNP_940970.1. NM_198568.2.
XP_005248773.1. XM_005248716.2.
UniGeneiHs.146727.

Genome annotation databases

EnsembliENST00000296882; ENSP00000296882; ENSG00000164411.
ENST00000525899; ENSP00000435355; ENSG00000164411.
GeneIDi375519.
KEGGihsa:375519.
UCSCiuc003plo.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ414563 Genomic DNA. Translation: CAC93845.1.
AK127554 mRNA. Translation: BAG54522.1.
AL160258 Genomic DNA. Translation: CAH70467.1.
BC057813 mRNA. Translation: AAH57813.1.
CCDSiCCDS5008.1.
RefSeqiNP_940970.1. NM_198568.2.
XP_005248773.1. XM_005248716.2.
UniGeneiHs.146727.

3D structure databases

ProteinModelPortaliQ6PEY0.
SMRiQ6PEY0. Positions 3-204.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131983. 51 interactions.
STRINGi9606.ENSP00000296882.

Polymorphism and mutation databases

BioMutaiGJB7.
DMDMi74749171.

Proteomic databases

PaxDbiQ6PEY0.
PRIDEiQ6PEY0.

Protocols and materials databases

DNASUi375519.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000296882; ENSP00000296882; ENSG00000164411.
ENST00000525899; ENSP00000435355; ENSG00000164411.
GeneIDi375519.
KEGGihsa:375519.
UCSCiuc003plo.3. human.

Organism-specific databases

CTDi375519.
GeneCardsiGJB7.
HGNCiHGNC:16690. GJB7.
MIMi611921. gene.
neXtProtiNX_Q6PEY0.
PharmGKBiPA134949515.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHN0. Eukaryota.
ENOG410YZ0T. LUCA.
GeneTreeiENSGT00840000129674.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiQ6PEY0.
KOiK07626.
OMAiFLVLFYK.
OrthoDBiEOG7P2XSS.
PhylomeDBiQ6PEY0.
TreeFamiTF329606.

Enzyme and pathway databases

ReactomeiR-HSA-190861. Gap junction assembly.

Miscellaneous databases

GeneWikiiGJB7.
GenomeRNAii375519.
PROiQ6PEY0.
SOURCEiSearch...

Gene expression databases

BgeeiQ6PEY0.
CleanExiHS_GJB7.
ExpressionAtlasiQ6PEY0. baseline and differential.

Family and domain databases

InterProiIPR000500. Connexin.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiPF00029. Connexin. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00408. CONNEXINS_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Structural and functional diversity of connexin genes in the mouse and human genome."
    Willecke K., Eiberger J., Degen J., Eckardt D., Romualdi A., Guldenagel M., Deutsch U., Soehl G.
    Biol. Chem. 383:725-737(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "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: Tongue.
  3. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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: Placenta.
  5. "Cloning and functional expression of a novel human connexin-25 gene."
    Bondarev I., Vine A., Bertram J.S.
    Cell Commun. Adhes. 8:167-171(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  6. "Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues."
    Soehl G., Nielsen P.A., Eiberger J., Willecke K.
    Cell Commun. Adhes. 10:27-36(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.

Entry informationi

Entry nameiCXB7_HUMAN
AccessioniPrimary (citable) accession number: Q6PEY0
Secondary accession number(s): B3KXL0, Q96KP0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: July 5, 2004
Last modified: June 8, 2016
This is version 103 of the entry and version 1 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 6
    Human chromosome 6: 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

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.