GJB1 (gap junction protein beta 1)

Gene: GJB1 (gap junction protein beta 1) Pan paniscus

Analyze

Symbol:

GJB1

Name:

gap junction protein beta 1

RGD ID:

11724310

Description:

ENCODES a protein that exhibits gap junction channel activity (ortholog); INVOLVED IN epididymis development (ortholog); purine ribonucleotide transport (ortholog); ASSOCIATED WITH adenoma (ortholog); autistic disorder (ortholog); autoimmune thyroiditis (ortholog); FOUND IN gap junction (ortholog); lateral plasma membrane (ortholog); protein-containing complex (ortholog)

Type:

protein-coding

RefSeq Status:

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

Mhudiblu_PPA_v0 - Bonobo Mhudiblu_PPA_v0 Assembly

Position:

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	X	70,899,720 - 70,901,737 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	70,903,323 - 70,905,340 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	60,490,579 - 60,492,606 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	70,538,213 - 70,548,917 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	70,547,110 - 70,547,961 (+)	Ensembl	panpan1.1		panPan2

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

adenoma (ISO)

autistic disorder (ISO)

autoimmune thyroiditis (ISO)

cerebellar ataxia (ISO)

Charcot-Marie-Tooth disease (ISO)

Charcot-Marie-Tooth disease type 1E (ISO)

Charcot-Marie-Tooth disease type 3 (ISO)

Charcot-Marie-Tooth disease type X (ISO)

Charcot-Marie-Tooth disease X-linked dominant 1 (ISO)

D-2-hydroxyglutaric aciduria 1 (ISO)

Deafness (ISO)

distal myopathy (ISO)

Experimental Liver Neoplasms (ISO)

extrahepatic cholestasis (ISO)

FG Syndrome 1 (ISO)

genetic disease (ISO)

hepatocellular carcinoma (ISO)

Liver Neoplasms (ISO)

Lung Neoplasms (ISO)

Neoplasm Metastasis (ISO)

neuropathy (ISO)

Pain (ISO)

peripheral nervous system disease (ISO)

pre-malignant neoplasm (ISO)

renal cell carcinoma (ISO)

Reperfusion Injury (ISO)

sensory peripheral neuropathy (ISO)

syndromic X-linked intellectual disability Lubs type (ISO)

Talipes Cavus (ISO)

X-linked severe combined immunodeficiency (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell communication (IEA)

cell-cell signaling (IEA)

epididymis development (ISO)

purine ribonucleotide transport (ISO)

transmembrane transport (IEA)

Cellular Component

connexin complex (IEA)

cytoplasm (IEA)

gap junction (IEA,ISO)

lateral plasma membrane (ISO)

plasma membrane (IEA)

protein-containing complex (ISO)

Molecular Function

gap junction channel activity (IEA,ISO)

identical protein binding (IEA)

protein binding (ISO)

References

Additional References at PubMed

PMID:22301074	PMID:30032202

Genomics

Comparative Map Data

GJB1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	X	70,899,720 - 70,901,737 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	70,903,323 - 70,905,340 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	60,490,579 - 60,492,606 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	70,538,213 - 70,548,917 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	70,547,110 - 70,547,961 (+)	Ensembl	panpan1.1		panPan2

GJB1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	71,215,239 - 71,225,516 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	71,212,811 - 71,225,516 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	70,435,089 - 70,445,366 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	70,351,787 - 70,361,777 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	70,226,096 - 70,228,065	NCBI
Celera	X	70,788,947 - 70,798,946 (+)	NCBI		Celera
Cytogenetic Map	X	q13.1	NCBI
HuRef	X	64,252,835 - 64,262,404 (+)	NCBI		HuRef
CHM1_1	X	70,328,093 - 70,338,111 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	69,649,327 - 69,659,597 (+)	NCBI		T2T-CHM13v2.0

Gjb1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	100,419,982 - 100,429,235 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	100,419,984 - 100,429,235 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	101,376,376 - 101,385,629 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	101,376,378 - 101,385,629 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	98,572,676 - 98,580,964 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	97,580,056 - 97,588,344 (+)	NCBI		MGSCv36	mm8
Celera	X	88,294,129 - 88,302,410 (+)	NCBI		Celera
Cytogenetic Map	X	D	NCBI
cM Map	X	44.06	NCBI

Gjb1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	70,541,845 - 70,549,776 (+)	NCBI		GRCr8
mRatBN7.2	X	66,501,848 - 66,509,783 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	66,501,820 - 66,509,925 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	67,985,201 - 67,993,132 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	71,485,591 - 71,493,522 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	69,046,498 - 69,054,429 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	71,272,030 - 71,279,973 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	71,272,042 - 71,279,977 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	72,123,958 - 72,131,901 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	89,448,873 - 89,456,812 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	X	89,522,360 - 89,530,242 (+)	NCBI
Celera	X	66,857,755 - 66,865,686 (+)	NCBI		Celera
Cytogenetic Map	X	q22	NCBI

Gjb1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955475	10,785,996 - 10,787,910 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955475	10,779,415 - 10,787,910 (+)	NCBI	ChiLan1.0	ChiLan1.0

GJB1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	X	55,565,995 - 55,575,332 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	55,573,808 - 55,574,659 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	46,392,855 - 46,402,183 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	56,534,870 - 56,544,201 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	56,542,150 - 56,544,198 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	54,502,814 - 54,512,141 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	55,834,274 - 55,843,612 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	55,761,402 - 55,770,733 (+)	NCBI		UU_Cfam_GSD_1.0

Gjb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	X	46,627,492 - 46,635,864 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936762	389,669 - 395,898 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936762	389,655 - 398,035 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GJB1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	X	57,242,045 - 57,249,885 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	57,241,990 - 57,249,496 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	64,844,639 - 64,852,103 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

GJB1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	X	61,013,991 - 61,019,222 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	61,017,716 - 61,018,567 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666065	2,883,820 - 2,885,847 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Gjb1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624903	1,517,324 - 1,519,265 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624903	1,511,347 - 1,519,265 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_003820140	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JARIFH020000024	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSPPAT00000000614 ⟹ ENSPPAP00000000150

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
PanPan1.1 Ensembl	X	70,547,110 - 70,547,961 (+)	Ensembl

RefSeq Acc Id:

XM_003820140 ⟹ XP_003820188

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
NHGRI_mPanPan1-v2	X	70,899,720 - 70,901,737 (+)	NCBI
NHGRI_mPanPan1	X	70,903,323 - 70,905,340 (+)	NCBI
Mhudiblu_PPA_v0	X	60,490,579 - 60,492,606 (+)	NCBI
PanPan1.1	X	70,546,591 - 70,548,617 (+)	NCBI

Sequence:

show sequence

ACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCG
GAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCA
GGGATAGGCGCTCCCCAAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCT
CAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTC
AGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCCTCCTTCATCT
GCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGT
GCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTG
GCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACC
TGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAG
CGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGC
TATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCG
TGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCCGCCTCTGGCATCTGCAT
CATCCTCAATGTGGCTGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGC
CGCTCCAATCCACCCTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGC
AGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAG
CCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATA
CCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGG
TGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTT
CCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTG
CTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTC
TCTCTGGGACCACTGGGGACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAAT
CTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGGGGAGGGATGTGGGTAA
GAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGT
AAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAG
GGAGAGAGAAGCAGGCAGATAAGTTGGAGCGGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCC
CCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTG
GCTTGTG

hide sequence

Protein Sequences


Protein RefSeqs	XP_003820188	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSPPAP00000000150
	ENSPPAP00000000150.1

RefSeq Acc Id:

XP_003820188 ⟸ XM_003820140

- UniProtKB:

A0A2R8ZC06 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVC
YDQFFPISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHIS
GTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTV
FMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLSPEYKQNEINKLLSEQD
GSLKDILRRSPGTGAGLAEKSDRCSAC

hide sequence

RefSeq Acc Id:

ENSPPAP00000000150 ⟸ ENSPPAT00000000614

Protein Domains

Connexin N-terminal Gap junction protein cysteine-rich

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSPPAG00000000516	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSPPAT00000000614.1	UniProtKB/TrEMBL
Gene3D-CATH	1.20.1440.80	UniProtKB/TrEMBL
InterPro	Connexin	UniProtKB/TrEMBL
	Connexin32	UniProtKB/TrEMBL
	Connexin_CCC	UniProtKB/TrEMBL
	Connexin_CS	UniProtKB/TrEMBL
	Connexin_N	UniProtKB/TrEMBL
	Connexin_N_sf	UniProtKB/TrEMBL
KEGG Report	pps:100992319	UniProtKB/TrEMBL
NCBI Gene	GJB1	ENTREZGENE
PANTHER	GAP JUNCTION BETA-1 PROTEIN	UniProtKB/TrEMBL
	PTHR11984	UniProtKB/TrEMBL
Pfam	Connexin	UniProtKB/TrEMBL
PRINTS	CONNEXIN	UniProtKB/TrEMBL
	CONNEXINB1	UniProtKB/TrEMBL
PROSITE	CONNEXINS_1	UniProtKB/TrEMBL
	CONNEXINS_2	UniProtKB/TrEMBL
SMART	CNX	UniProtKB/TrEMBL
	Connexin_CCC	UniProtKB/TrEMBL
UniProt	A0A2R8ZC06	ENTREZGENE, UniProtKB/TrEMBL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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