GJB1 (gap junction protein beta 1)

	Submit Data \| Help \| Video Tutorials \| News \| Publications \| FTP Download \| REST API \| Citing RGD \| Contact
	Search RGD Grant Resources Citing RGD About Us Contact Us Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease Find Models new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive Pathways Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
	Advanced Search (OLGA)

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); identical protein binding (ortholog); INVOLVED IN epididymis development (ortholog); purine ribonucleotide transport (ortholog); ASSOCIATED WITH adenoma (ortholog); autistic disorder (ortholog); autoimmune thyroiditis (ortholog); FOUND IN cytoplasm (ortholog); gap junction (ortholog); lateral plasma membrane (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

RGD Orthologs

Human

Mouse

Rat

Chinchilla

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

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
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
Mhudiblu_PPA_v0	X	60,490,579 - 60,492,606 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

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)

Hammer Toe Syndrome (ISO)

hepatocellular carcinoma (ISO)

Liver Neoplasms (ISO)

Lung Neoplasms (ISO)

Neoplasm Metastasis (ISO)

Pain (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)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

epididymis development (ISO)

purine ribonucleotide transport (ISO)

Cellular Component

cytoplasm (ISO)

gap junction (ISO)

lateral plasma membrane (ISO)

plasma membrane (ISO)

protein-containing complex (ISO)

Molecular Function

gap junction channel activity (ISO)

identical protein binding (ISO)

protein binding (ISO)

References

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
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
Mhudiblu_PPA_v0	X	60,490,579 - 60,492,606 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

GJB1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	X	71,215,194 - 71,225,516 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	X	71,212,811 - 71,225,516 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	X	71,215,239 - 71,225,516 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	70,435,062 - 70,445,065 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
GRCh37	X	70,435,089 - 70,445,366 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	70,351,787 - 70,361,777 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	X	70,226,096 - 70,228,065	NCBI
Celera	X	70,788,947 - 70,798,946 (+)	NCBI
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

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		mm39
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		mm9	NCBIm37
MGSCv36	X	97,580,056 - 97,588,344 (+)	NCBI			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
mRatBN7.2	X	66,501,848 - 66,509,783 (+)	NCBI
Rnor_6.0 Ensembl	X	71,272,042 - 71,279,977 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	X	71,272,030 - 71,279,973 (+)	NCBI	Rnor6.0	Rnor_6.0	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		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 Ensembl	X	55,573,808 - 55,574,659 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	X	55,565,995 - 55,575,332 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

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
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	57,196,999 - 57,249,886 (+)	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 - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	X	61,013,991 - 61,019,222 (+)	NCBI
ChlSab1.1 Ensembl	X	61,017,716 - 61,018,567 (+)	Ensembl

Gjb1
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624903	1,511,347 - 1,519,265 (+)	NCBI

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_003820140	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	SSBP01000253	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENSPPAT00000000614 ⟹ ENSPPAP00000000150

RefSeq Status:

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

RefSeq Status:

Type:

CODING

Position:

Bonobo Assembly	Chr	Position (strand)	Source
PanPan1.1	X	70,546,591 - 70,548,617 (+)	NCBI
Mhudiblu_PPA_v0	X	60,490,579 - 60,492,606 (+)	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

Reference Sequences

RefSeq Acc Id:

XP_003820188 ⟸ XM_003820140

- Sequence:

show sequence

MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVC
YDQFFPISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHIS
GTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTV
FMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLSPEYKQNEINKLLSEQD
GSLKDILRRSPGTGAGLAEKSDRCSAC

hide sequence

RefSeq Acc Id:

ENSPPAP00000000150 ⟸ ENSPPAT00000000614

Protein Domains

CNX Connexin_CCC

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSPPAG00000000516	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Protein	ENSPPAP00000000150	ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSPPAT00000000614	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	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_PANPA	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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM