P36383 (CXG1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Gap junction gamma-1 protein

Alternative name(s):
Connexin-45
Short name=Cx45
Gap junction alpha-7 protein

Gene names

Name:	GJC1
Synonyms:	GJA7

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	396 AA.
Sequence status	Complete.
Protein existence	Evidence at protein 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.
Subunit structure	A connexon is composed of a hexamer of connexins. Interacts with CNST By similarity.
Subcellular location	Cell membrane; Multi-pass membrane protein. Cell junction › gap junction.
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	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cardiac muscle tissue development Inferred from electronic annotation. Source: Compara cell development Inferred from electronic annotation. Source: Compara cellular membrane organization Traceable author statement. Source: Reactome gap junction assembly Traceable author statement. Source: Reactome muscle contraction Traceable author statement Ref.1. Source: ProtInc regulation of atrial cardiac muscle cell action potential Traceable author statement PubMed 23348765. Source: BHF-UCL synaptic transmission Traceable author statement. Source: Reactome transport Non-traceable author statement Ref.1. Source: ProtInc vasculogenesis Inferred from electronic annotation. Source: Compara visual perception Inferred from electronic annotation. Source: Compara
Cellular_component	connexon complex Inferred from electronic annotation. Source: Compara endoplasmic reticulum membrane Traceable author statement. Source: Reactome gap junction Traceable author statement Ref.1. Source: ProtInc integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW intercalated disc Traceable author statement PubMed 23348765. Source: BHF-UCL plasma membrane Traceable author statement. Source: Reactome
Molecular_function	gap junction channel activity Inferred from electronic annotation. Source: Compara ion channel activity 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 – 396	396	Gap junction gamma-1 protein		PRO_0000057826
Regions
	Topological domain	1 – 22	22	Cytoplasmic Potential
	Transmembrane	23 – 45	23	Helical; Potential
	Topological domain	46 – 75	30	Extracellular Potential
	Transmembrane	76 – 95	20	Helical; Potential
	Topological domain	96 – 175	80	Cytoplasmic Potential
	Transmembrane	176 – 198	23	Helical; Potential
	Topological domain	199 – 228	30	Extracellular Potential
	Transmembrane	229 – 248	20	Helical; Potential
	Topological domain	249 – 396	148	Cytoplasmic Potential
Experimental info
	Sequence conflict	382	1	T → A in BAG54030. Ref.2
	Sequence conflict	392	1	T → N in AAA60458. Ref.1
	Sequence conflict	392	1	T → N in AAH96213. Ref.4
	Sequence conflict	392	1	T → N in AAH96214. Ref.4
	Sequence conflict	392	1	T → N in AAH96215. Ref.4
	Sequence conflict	392	1	T → N in AAH96216. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	P36383 [UniParc]. Last modified April 14, 2009. Version 2. Checksum: C9F67C1D926D40DF	FASTA	396	45,470
	10 20 30 40 50 60 MSWSFLTRLL EEIHNHSTFV GKIWLTVLIV FRIVLTAVGG ESIYYDEQSK FVCNTEQPGC 70 80 90 100 110 120 ENVCYDAFAP LSHVRFWVFQ IILVATPSVM YLGYAIHKIA KMEHGEADKK AARSKPYAMR 130 140 150 160 170 180 WKQHRALEET EEDNEEDPMM YPEMELESDK ENKEQSQPKP KHDGRRRIRE DGLMKIYVLQ 190 200 210 220 230 240 LLARTVFEVG FLIGQYFLYG FQVHPFYVCS RLPCPHKIDC FISRPTEKTI FLLIMYGVTG 250 260 270 280 290 300 LCLLLNIWEM LHLGFGTIRD SLNSKRRELE DPGAYNYPFT WNTPSAPPGY NIAVKPDQIQ 310 320 330 340 350 360 YTELSNAKIA YKQNKANTAQ EQQYGSHEEN LPADLEALQR EIRMAQERLD LAVQAYSHQN 370 380 390 NPHGPREKKA KVGSKAGSNK STASSKSGDG KTSVWI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45." Kanter H.L., Saffitz J.E., Beyer E.C. J. Mol. Cell. Cardiol. 26:861-868(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Uterus.
[3]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C. Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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].
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

U03493 Genomic DNA. Translation: AAA60458.1.
AK124339 mRNA. Translation: BAG54030.1.
AC005180 Genomic DNA. No translation available.
BC096213 mRNA. Translation: AAH96213.1.
BC096214 mRNA. Translation: AAH96214.1.
BC096215 mRNA. Translation: AAH96215.1.
BC096216 mRNA. Translation: AAH96216.1.

IPI

IPI00002946.

PIR

I38430.

RefSeq

NP_001073852.1. NM_001080383.1.
NP_005488.2. NM_005497.3.

UniGene

Hs.532593.
Hs.712052.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3SHW	X-ray	2.90	B	387-396	[»]

ProteinModelPortal

P36383.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000333193.

PTM databases

PhosphoSite

P36383.

Polymorphism databases

DMDM

226693517.

Proteomic databases

PaxDb

P36383.

PRIDE

P36383.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000330514; ENSP00000333193; ENSG00000182963.
ENST00000426548; ENSP00000411528; ENSG00000182963.
ENST00000590758; ENSP00000466339; ENSG00000182963.
ENST00000592524; ENSP00000467201; ENSG00000182963.

GeneID

10052.

KEGG

hsa:10052.

UCSC

uc002ihj.3. human.

Organism-specific databases

CTD

10052.

GeneCards

GC17M042875.

HGNC

HGNC:4280. GJC1.

MIM

608655. gene.

neXtProt

NX_P36383.

PharmGKB

PA164741588.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG44555.

HOGENOM

HOG000231126.

HOVERGEN

HBG009576.

InParanoid

P36383.

KO

K07616.

OMA

KQHRGLE.

OrthoDB

EOG45HRXR.

PhylomeDB

P36383.

Enzyme and pathway databases

Reactome

REACT_11123. Membrane Trafficking.
REACT_13685. Neuronal System.

Gene expression databases

ArrayExpress

P36383.

Bgee

P36383.

CleanEx

HS_GJC1.

Genevestigator

P36383.

GermOnline

ENSG00000182963. Homo sapiens.

Family and domain databases

InterPro

IPR000500. Connexin.
IPR002265. Connexin45.
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.
PR01136. CONNEXINA6.

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

ChiTaRS

GJC1. human.

GenomeRNAi

10052.

NextBio

37975.

SOURCE

Search...

Entry information

Entry name

CXG1_HUMAN

Accession

Primary (citable) accession number: P36383
Secondary accession number(s): B3KW68, Q4VAY0

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	April 14, 2009
Last modified:	May 1, 2013
This is version 115 of the entry and version 2 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.