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Protein

Gap junction delta-4 protein

Gene

GJD4

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 similarity

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-190861 Gap junction assembly

Protein family/group databases

TCDBi1.A.24.1.8 the gap junction-forming connexin (connexin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction delta-4 protein
Alternative name(s):
Connexin-40.1
Short name:
Cx40.1
Gene namesi
Name:GJD4
Synonyms:CX40.1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000177291.3
HGNCiHGNC:23296 GJD4
MIMi611922 gene
neXtProtiNX_Q96KN9

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 – 76ExtracellularSequence analysisAdd BLAST36
Transmembranei77 – 97HelicalSequence analysisAdd BLAST21
Topological domaini98 – 146CytoplasmicSequence analysisAdd BLAST49
Transmembranei147 – 167HelicalSequence analysisAdd BLAST21
Topological domaini168 – 196ExtracellularSequence analysisAdd BLAST29
Transmembranei197 – 217HelicalSequence analysisAdd BLAST21
Topological domaini218 – 370CytoplasmicSequence analysisAdd BLAST153

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000177291
PharmGKBiPA162389714

Polymorphism and mutation databases

BioMutaiGJD4
DMDMi74751985

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003129911 – 370Gap junction delta-4 proteinAdd BLAST370

Proteomic databases

PaxDbiQ96KN9
PeptideAtlasiQ96KN9
PRIDEiQ96KN9
ProteomicsDBi77096

PTM databases

iPTMnetiQ96KN9
PhosphoSitePlusiQ96KN9

Expressioni

Tissue specificityi

Expressed in pancreas, kidney, skeletal muscle, liver, placenta, and heart.1 Publication

Gene expression databases

BgeeiENSG00000177291
CleanExiHS_GJD4
GenevisibleiQ96KN9 HS

Organism-specific databases

HPAiHPA038266

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi128574, 1 interactor
STRINGi9606.ENSP00000315070

Structurei

3D structure databases

ProteinModelPortaliQ96KN9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the connexin family. Delta-type subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IEKW Eukaryota
ENOG4111ING LUCA
GeneTreeiENSGT00910000144026
HOGENOMiHOG000112113
HOVERGENiHBG062544
InParanoidiQ96KN9
KOiK07630
OMAiSVVDCYV
OrthoDBiEOG091G0GK6
PhylomeDBiQ96KN9
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
PS00407 CONNEXINS_1, 1 hit
PS00408 CONNEXINS_2, 1 hit

Sequencei

Sequence statusi: Complete.

Q96KN9-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:370
Mass (Da):40,140
Last modified:December 1, 2001 - v1
Checksum:iCD49F31743A7F7C2
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti205S → G in BAC11028 (PubMed:16303743).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04762690A → V. Corresponds to variant dbSNP:rs35398622Ensembl.1
Natural variantiVAR_037640269R → H in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_037641271G → 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
CCDSiCCDS7191.1
RefSeqiNP_699199.2, NM_153368.2
UniGeneiHs.638922
Hs.670506

Genome annotation databases

EnsembliENST00000321660; ENSP00000315070; ENSG00000177291
GeneIDi219770
KEGGihsa:219770
UCSCiuc001iyy.1 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCXD4_HUMAN
AccessioniPrimary (citable) accession number: Q96KN9
Secondary accession number(s): Q8N2R7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: December 1, 2001
Last modified: June 20, 2018
This is version 125 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. Human chromosome 10
    Human chromosome 10: 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

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