Q8NFK1 (CXG3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Gap junction gamma-3 protein

Alternative name(s):
Connexin-30.2
Short name=Cx30.2
Connexin-31.3
Short name=Cx31.3
Gap junction epsilon-1 protein

Gene names

Name:	GJC3
Synonyms:	GJE1

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 › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	279 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	CNS specific. Expression is restricted to brain, spinal cord, and sciatic nerve. According to Ref.6, expression is abundant in skeletal muscle, liver, and heart, and to a minor degree in pancreas and kidney. Ref.1 Ref.6
Sequence similarities	Belongs to the connexin family. Gamma-type subfamily.

Ontologies

Keywords
Cellular component	Cell junction Cell membrane Gap junction Membrane
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	myelination Inferred from electronic annotation. Source: Compara sensory perception of sound Inferred from electronic annotation. Source: Compara
Cellular_component	connexon complex Inferred from electronic annotation. Source: InterPro integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW myelin sheath Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 279	279	Gap junction gamma-3 protein		PRO_0000057874
Regions
	Topological domain	1 – 22	22	Cytoplasmic Potential
	Transmembrane	23 – 43	21	Helical; Potential
	Topological domain	44 – 75	32	Extracellular Potential
	Transmembrane	76 – 96	21	Helical; Potential
	Topological domain	97 – 132	36	Cytoplasmic Potential
	Transmembrane	133 – 153	21	Helical; Potential
	Topological domain	154 – 194	41	Extracellular Potential
	Transmembrane	195 – 215	21	Helical; Potential
	Topological domain	216 – 279	64	Cytoplasmic Potential

Sequences

	Sequence		Length	Mass (Da)
	Q8NFK1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 71810BB8E30533BC	FASTA	279	31,299
	10 20 30 40 50 60 MCGRFLRRLL AEESRRSTPV GRLLLPVLLG FRLVLLAASG PGVYGDEQSE FVCHTQQPGC 70 80 90 100 110 120 KAACFDAFHP LSPLRFWVFQ VILVAVPSAL YMGFTLYHVI WHWELSGKGK EEETLIQGRE 130 140 150 160 170 180 GNTDVPGAGS LRLLWAYVAQ LGARLVLEGA ALGLQYHLYG FQMPSSFACR REPCLGSITC 190 200 210 220 230 240 NLSRPSEKTI FLKTMFGVSG FCLLFTFLEL VLLGLGRWWR TWKHKSSSSK YFLTSESTRR 250 260 270 HKKATDSLPV VETKEQFQEA VPGRSLAQEK QRPVGPRDA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems." Altevogt B.M., Kleopa K.A., Postma F.R., Scherer S.S., Paul D.L. J. Neurosci. 22:6458-6470(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
[2]	"Human connexin 31.3 ORF." Enriquez A.D., Scherer S.S. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Corpus callosum.
[3]	"Human chromosome 7: DNA sequence and biology." Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C. Science 300:767-772(2003) [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]	"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] OF 120-279. Tissue: Pancreas.
[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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF503615 mRNA. Translation: AAM21145.1. AY297109 mRNA. Translation: AAP51161.1. CH236956 Genomic DNA. Translation: EAL23863.1. CH471091 Genomic DNA. Translation: EAW76624.1. BC043381 mRNA. Translation: AAH43381.1.
IPI	IPI00302941.
RefSeq	NP_853516.1. NM_181538.2.
UniGene	Hs.647524.
3D structure databases
ProteinModelPortal	Q8NFK1.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000325775.
PTM databases
PhosphoSite	Q8NFK1.
Polymorphism databases
DMDM	32171365.
Proteomic databases
PaxDb	Q8NFK1.
PRIDE	Q8NFK1.
Protocols and materials databases
DNASU	349149.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000312891; ENSP00000325775; ENSG00000176402.
GeneID	349149.
KEGG	hsa:349149.
UCSC	uc011kjd.2. human.
Organism-specific databases
CTD	349149.
GeneCards	GC07M099520.
HGNC	HGNC:17495. GJC3.
HPA	HPA015024.
MIM	611925. gene.
neXtProt	NX_Q8NFK1.
PharmGKB	PA162389705.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG42371.
HOGENOM	HOG000231127.
HOVERGEN	HBG107788.
InParanoid	Q8NFK1.
KO	K07628.
OMA	IFLKTMF.
OrthoDB	EOG49CQ8J.
PhylomeDB	Q8NFK1.
Gene expression databases
Bgee	Q8NFK1.
CleanEx	HS_GJC3.
Genevestigator	Q8NFK1.
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
GenomeRNAi	349149.
NextBio	99487.
SOURCE	Search...

Entry information

Entry name

CXG3_HUMAN

Accession

Primary (citable) accession number: Q8NFK1
Secondary accession number(s): A4D296, Q86XI9

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 20, 2003
Last sequence update:	October 1, 2002
Last modified:	May 1, 2013
This is version 93 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.