UniProtKB - Q96KN9 (CXD4_HUMAN)
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Protein
Gap junction delta-4 protein
Gene
GJD4
Organism
Homo sapiens (Human)
Status
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 similarity
GO - Biological processi
- cell communication Source: InterPro
- regulation of satellite cell activation involved in skeletal muscle regeneration Source: Ensembl
Enzyme and pathway databases
Reactomei | R-HSA-190861 Gap junction assembly |
Protein family/group databases
TCDBi | 1.A.24.1.8 the gap junction-forming connexin (connexin) family |
Names & Taxonomyi
Protein namesi | Recommended name: Gap junction delta-4 proteinAlternative name(s): Connexin-40.1 Short name: Cx40.1 |
Gene namesi | Name:GJD4 Synonyms:CX40.1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000177291.3 |
HGNCi | HGNC:23296 GJD4 |
MIMi | 611922 gene |
neXtProti | NX_Q96KN9 |
Subcellular locationi
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 19 | CytoplasmicSequence analysisAdd BLAST | 19 | |
Transmembranei | 20 – 40 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 41 – 76 | ExtracellularSequence analysisAdd BLAST | 36 | |
Transmembranei | 77 – 97 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 98 – 146 | CytoplasmicSequence analysisAdd BLAST | 49 | |
Transmembranei | 147 – 167 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 168 – 196 | ExtracellularSequence analysisAdd BLAST | 29 | |
Transmembranei | 197 – 217 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 218 – 370 | CytoplasmicSequence analysisAdd BLAST | 153 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Gap junction, MembranePathology & Biotechi
Organism-specific databases
OpenTargetsi | ENSG00000177291 |
PharmGKBi | PA162389714 |
Polymorphism and mutation databases
BioMutai | GJD4 |
DMDMi | 74751985 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000312991 | 1 – 370 | Gap junction delta-4 proteinAdd BLAST | 370 |
Proteomic databases
PaxDbi | Q96KN9 |
PeptideAtlasi | Q96KN9 |
PRIDEi | Q96KN9 |
PTM databases
iPTMneti | Q96KN9 |
PhosphoSitePlusi | Q96KN9 |
Expressioni
Tissue specificityi
Expressed in pancreas, kidney, skeletal muscle, liver, placenta, and heart.1 Publication
Gene expression databases
Bgeei | ENSG00000177291 |
CleanExi | HS_GJD4 |
Genevisiblei | Q96KN9 HS |
Organism-specific databases
HPAi | HPA038266 |
Interactioni
Subunit structurei
A connexon is composed of a hexamer of connexins.By similarity
Protein-protein interaction databases
BioGridi | 1285741 interactor. |
STRINGi | 9606.ENSP00000315070 |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG410IEKW Eukaryota ENOG4111ING LUCA |
GeneTreei | ENSGT00910000144026 |
HOGENOMi | HOG000112113 |
HOVERGENi | HBG062544 |
InParanoidi | Q96KN9 |
KOi | K07630 |
OMAi | SVVDCYV |
OrthoDBi | EOG091G0GK6 |
PhylomeDBi | Q96KN9 |
TreeFami | TF329606 |
Family and domain databases
Gene3Di | 1.20.1440.801 hit |
InterProi | View protein in InterPro IPR000500 Connexin IPR019570 Connexin_CCC IPR017990 Connexin_CS IPR013092 Connexin_N IPR038359 Connexin_N_sf |
PANTHERi | PTHR11984 PTHR11984, 1 hit |
Pfami | View protein in Pfam PF00029 Connexin, 1 hit |
PRINTSi | PR00206 CONNEXIN |
SMARTi | View protein in SMART SM00037 CNX, 1 hit SM01089 Connexin_CCC, 1 hit |
PROSITEi | View protein in PROSITE PS00407 CONNEXINS_1, 1 hit PS00408 CONNEXINS_2, 1 hit |
i Sequence
Sequence statusi: Complete.
Q96KN9-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MEGVDLLGFL IITLNCNVTM VGKLWFVLTM LLRMLVIVLA GRPVYQDEQE
60 70 80 90 100
RFVCNTLQPG CANVCYDVFS PVSHLRFWLI QGVCVLLPSA VFSVYVLHRG
110 120 130 140 150
ATLAALGPRR CPDPREPASG QRRCPRPFGE RGGLQVPDFS AGYIIHLLLR
160 170 180 190 200
TLLEAAFGAL HYFLFGFLAP KKFPCTRPPC TGVVDCYVSR PTEKSLLMLF
210 220 230 240 250
LWAVSALSFL LGLADLVCSL RRRMRRRPGP PTSPSIRKQS GASGHAEGRR
260 270 280 290 300
TDEEGGREEE GAPAPPGARA GGEGAGSPRR TSRVSGHTKI PDEDESEVTS
310 320 330 340 350
SASEKLGRQP RGRPHREAAQ DPRGSGSEEQ PSAAPSRLAA PPSCSSLQPP
360 370
DPPASSSGAP HLRARKSEWV
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 205 | S → G in BAC11028 (PubMed:16303743).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_047626 | 90 | A → V. Corresponds to variant dbSNP:rs35398622Ensembl. | 1 | |
Natural variantiVAR_037640 | 269 | R → H in a colorectal cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_037641 | 271 | G → R in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs773395724Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ414564 mRNA Translation: CAC93846.1 AK074504 mRNA Translation: BAC11028.1 AL121749 Genomic DNA No translation available. CH471072 Genomic DNA Translation: EAW85910.1 |
CCDSi | CCDS7191.1 |
RefSeqi | NP_699199.2, NM_153368.2 |
UniGenei | Hs.638922 Hs.670506 |
Genome annotation databases
Ensembli | ENST00000321660; ENSP00000315070; ENSG00000177291 |
GeneIDi | 219770 |
KEGGi | hsa:219770 |
UCSCi | uc001iyy.1 human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Entry informationi
Entry namei | CXD4_HUMAN | |
Accessioni | Q96KN9Primary (citable) accession number: Q96KN9 Secondary accession number(s): Q8N2R7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 15, 2008 |
Last sequence update: | December 1, 2001 | |
Last modified: | March 28, 2018 | |
This is version 124 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |