Q96KN9 (CXD4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Gap junction delta-4 protein

Alternative name(s):
Connexin-40.1
Short name=Cx40.1

Gene names

Name:	GJD4
Synonyms:	CX40.1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	370 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript 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 By similarity.
Subunit structure	A connexon is composed of a hexamer of connexins By similarity.
Subcellular location	Cell membrane; Multi-pass membrane protein By similarity. Cell junction › gap junction By similarity.
Tissue specificity	Expressed in pancreas, kidney, skeletal muscle, liver, placenta, and heart. Ref.5
Sequence similarities	Belongs to the connexin family. Delta-type subfamily.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Gap junction Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell communication Inferred from electronic annotation. Source: InterPro regulation of satellite cell activation involved in skeletal muscle regeneration Inferred from electronic annotation. Source: Ensembl
Cellular_component	connexon complex Inferred from electronic annotation. Source: InterPro integral component of membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 370	370	Gap junction delta-4 protein		PRO_0000312991
Regions
	Topological domain	1 – 19	19	Cytoplasmic Potential
	Transmembrane	20 – 40	21	Helical; Potential
	Topological domain	41 – 76	36	Extracellular Potential
	Transmembrane	77 – 97	21	Helical; Potential
	Topological domain	98 – 146	49	Cytoplasmic Potential
	Transmembrane	147 – 167	21	Helical; Potential
	Topological domain	168 – 196	29	Extracellular Potential
	Transmembrane	197 – 217	21	Helical; Potential
	Topological domain	218 – 370	153	Cytoplasmic Potential
Natural variations
	Natural variant	90	1	A → V. Corresponds to variant rs35398622 [ dbSNP | Ensembl ].		VAR_047626
	Natural variant	269	1	R → H in a colorectal cancer sample; somatic mutation. Ref.6		VAR_037640
	Natural variant	271	1	G → R in a colorectal cancer sample; somatic mutation. Ref.6		VAR_037641
Experimental info
	Sequence conflict	205	1	S → G in BAC11028. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q96KN9 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: CD49F31743A7F7C2	FASTA	370	40,140
	10 20 30 40 50 60 MEGVDLLGFL IITLNCNVTM VGKLWFVLTM LLRMLVIVLA GRPVYQDEQE RFVCNTLQPG 70 80 90 100 110 120 CANVCYDVFS PVSHLRFWLI QGVCVLLPSA VFSVYVLHRG ATLAALGPRR CPDPREPASG 130 140 150 160 170 180 QRRCPRPFGE RGGLQVPDFS AGYIIHLLLR TLLEAAFGAL HYFLFGFLAP KKFPCTRPPC 190 200 210 220 230 240 TGVVDCYVSR PTEKSLLMLF LWAVSALSFL LGLADLVCSL RRRMRRRPGP PTSPSIRKQS 250 260 270 280 290 300 GASGHAEGRR TDEEGGREEE GAPAPPGARA GGEGAGSPRR TSRVSGHTKI PDEDESEVTS 310 320 330 340 350 360 SASEKLGRQP RGRPHREAAQ DPRGSGSEEQ PSAAPSRLAA PPSCSSLQPP DPPASSSGAP 370 HLRARKSEWV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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 [MRNA].
[2]	"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T. DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	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. , 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].
[5]	"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.
[6]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] HIS-269 AND ARG-271.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ414564 mRNA. Translation: CAC93846.1. AK074504 mRNA. Translation: BAC11028.1. AL121749 Genomic DNA. Translation: CAH73708.1. CH471072 Genomic DNA. Translation: EAW85910.1.
RefSeq	NP_699199.2. NM_153368.2.
UniGene	Hs.638922. Hs.670506.
3D structure databases
ProteinModelPortal	Q96KN9.
SMR	Q96KN9. Positions 3-222.
ModBase	Search...
MobiDB	Search...
Protein-protein interaction databases
BioGrid	128574. 1 interaction.
STRING	9606.ENSP00000315070.
Chemistry
GuidetoPHARMACOLOGY	727.
PTM databases
PhosphoSite	Q96KN9.
Polymorphism databases
DMDM	74751985.
Proteomic databases
PaxDb	Q96KN9.
PRIDE	Q96KN9.
Protocols and materials databases
DNASU	219770.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000321660; ENSP00000315070; ENSG00000177291.
GeneID	219770.
KEGG	hsa:219770.
UCSC	uc001iyy.1. human.
Organism-specific databases
CTD	219770.
GeneCards	GC10P035894.
H-InvDB	HIX0201548.
HGNC	HGNC:23296. GJD4.
HPA	HPA038266.
MIM	611922. gene.
neXtProt	NX_Q96KN9.
PharmGKB	PA162389714.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG39258.
HOGENOM	HOG000112113.
HOVERGEN	HBG062544.
InParanoid	Q96KN9.
KO	K07630.
OMA	ANVCYDV.
OrthoDB	EOG78PV9Q.
PhylomeDB	Q96KN9.
TreeFam	TF329606.
Enzyme and pathway databases
Reactome	REACT_11123. Membrane Trafficking.
Gene expression databases
Bgee	Q96KN9.
CleanEx	HS_GJD4.
Genevestigator	Q96KN9.
Family and domain databases
InterPro	IPR000500. Connexin. IPR019570. Connexin_CCC. IPR017990. Connexin_CS. IPR013092. Connexin_N. [Graphical view]
PANTHER	PTHR11984. PTHR11984. 1 hit.
Pfam	PF00029. Connexin. 1 hit. PF10582. Connexin_CCC. 1 hit. [Graphical view]
PRINTS	PR00206. CONNEXIN.
SMART	SM00037. CNX. 1 hit. SM01089. Connexin_CCC. 1 hit. [Graphical view]
PROSITE	PS00407. CONNEXINS_1. 1 hit. PS00408. CONNEXINS_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GeneWiki	GJD4.
GenomeRNAi	219770.
NextBio	90746.
PRO	Q96KN9.
SOURCE	Search...

Entry information

Entry name

CXD4_HUMAN

Accession

Primary (citable) accession number: Q96KN9
Secondary accession number(s): Q8N2R7

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 15, 2008
Last sequence update:	December 1, 2001
Last modified:	February 19, 2014
This is version 94 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.