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Protein

Gap junction beta-7 protein

Gene

GJB7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 - Molecular functioni

  • gap junction channel activity Source: UniProtKB

GO - Biological processi

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

EuPathDBiHostDB:ENSG00000164411.10
HGNCiHGNC:16690 GJB7
MIMi611921 gene
neXtProtiNX_Q6PEY0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 19CytoplasmicSequence analysisAdd BLAST19
Transmembranei20 – 40HelicalSequence analysisAdd BLAST21
Topological domaini41 – 75ExtracellularSequence analysisAdd BLAST35
Transmembranei76 – 96HelicalSequence analysisAdd BLAST21
Topological domaini97 – 121CytoplasmicSequence analysisAdd BLAST25
Transmembranei122 – 142HelicalSequence analysisAdd BLAST21
Topological domaini143 – 177ExtracellularSequence analysisAdd BLAST35
Transmembranei178 – 198HelicalSequence analysisAdd BLAST21
Topological domaini199 – 223CytoplasmicSequence analysisAdd BLAST25

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi375519
OpenTargetsiENSG00000164411
PharmGKBiPA134949515

Polymorphism and mutation databases

BioMutaiGJB7
DMDMi74749171

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002713431 – 223Gap junction beta-7 proteinAdd BLAST223

Proteomic databases

PaxDbiQ6PEY0
PeptideAtlasiQ6PEY0
PRIDEiQ6PEY0
ProteomicsDBi67087

Expressioni

Tissue specificityi

Weakly expressed in placenta.1 Publication

Gene expression databases

BgeeiENSG00000164411 Expressed in 52 organ(s), highest expression level in right uterine tube
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, 55 interactors
STRINGi9606.ENSP00000296882

Structurei

3D structure databases

ProteinModelPortaliQ6PEY0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IHN0 Eukaryota
ENOG410YZ0T LUCA
GeneTreeiENSGT00910000144026
HOGENOMiHOG000231127
HOVERGENiHBG009576
InParanoidiQ6PEY0
KOiK07626
OMAiDLKPCPN
OrthoDBiEOG091G0FKH
PhylomeDBiQ6PEY0
TreeFamiTF329606

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf
PANTHERiPTHR11984 PTHR11984, 1 hit
PfamiView protein in Pfam
PF00029 Connexin, 1 hit
PRINTSiPR00206 CONNEXIN
SMARTiView protein in SMART
SM00037 CNX, 1 hit
SM01089 Connexin_CCC, 1 hit
PROSITEiView protein in PROSITE
PS00408 CONNEXINS_2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MRM5A0A0A0MRM5_HUMAN
Gap junction beta-7 protein
GJB7
162Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti43V → M in CAC93845 (PubMed:12108537).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04762720T → I. Corresponds to variant dbSNP:rs4707358Ensembl.1
Natural variantiVAR_061125177T → M. Corresponds to variant dbSNP:rs41273281Ensembl.1
Natural variantiVAR_047628206F → L. Corresponds to variant dbSNP:rs6934603Ensembl.1

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 No translation available.
BC057813 mRNA Translation: AAH57813.1
CCDSiCCDS5008.1
RefSeqiNP_940970.1, NM_198568.2
XP_005248773.1, XM_005248716.2
UniGeneiHs.146727

Genome annotation databases

EnsembliENST00000525899; ENSP00000435355; ENSG00000164411
GeneIDi375519
KEGGihsa:375519
UCSCiuc003plo.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

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 No translation available.
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
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131983, 55 interactors
STRINGi9606.ENSP00000296882

Polymorphism and mutation databases

BioMutaiGJB7
DMDMi74749171

Proteomic databases

PaxDbiQ6PEY0
PeptideAtlasiQ6PEY0
PRIDEiQ6PEY0
ProteomicsDBi67087

Protocols and materials databases

DNASUi375519
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000525899; ENSP00000435355; ENSG00000164411
GeneIDi375519
KEGGihsa:375519
UCSCiuc003plo.3 human

Organism-specific databases

CTDi375519
DisGeNETi375519
EuPathDBiHostDB:ENSG00000164411.10
GeneCardsiGJB7
HGNCiHGNC:16690 GJB7
MIMi611921 gene
neXtProtiNX_Q6PEY0
OpenTargetsiENSG00000164411
PharmGKBiPA134949515
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHN0 Eukaryota
ENOG410YZ0T LUCA
GeneTreeiENSGT00910000144026
HOGENOMiHOG000231127
HOVERGENiHBG009576
InParanoidiQ6PEY0
KOiK07626
OMAiDLKPCPN
OrthoDBiEOG091G0FKH
PhylomeDBiQ6PEY0
TreeFamiTF329606

Enzyme and pathway databases

ReactomeiR-HSA-190861 Gap junction assembly

Miscellaneous databases

GeneWikiiGJB7
GenomeRNAii375519
PROiPR:Q6PEY0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164411 Expressed in 52 organ(s), highest expression level in right uterine tube
CleanExiHS_GJB7
ExpressionAtlasiQ6PEY0 baseline and differential

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
InterProiView protein in InterPro
IPR000500 Connexin
IPR019570 Connexin_CCC
IPR017990 Connexin_CS
IPR013092 Connexin_N
IPR038359 Connexin_N_sf
PANTHERiPTHR11984 PTHR11984, 1 hit
PfamiView protein in Pfam
PF00029 Connexin, 1 hit
PRINTSiPR00206 CONNEXIN
SMARTiView protein in SMART
SM00037 CNX, 1 hit
SM01089 Connexin_CCC, 1 hit
PROSITEiView protein in PROSITE
PS00408 CONNEXINS_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCXB7_HUMAN
AccessioniPrimary (citable) accession number: Q6PEY0
Secondary accession number(s): B3KXL0, Q96KP0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: July 5, 2004
Last modified: September 12, 2018
This is version 119 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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