| 61926 | Gjb1 | gap junction protein, beta 1 | ENCODES a protein that exhibits gap junction channel activity; identical protein binding (ortholog); INVOLVED IN epididymis development; purine ribonucleotide transport; ASSOCIATED WITH autoimmune thyroiditis; Experimental Liver Neoplasms; extrahepatic cholestasis; FOUND IN gap junction; lateral pla sma membrane; protein-containing complex; INTERACTS WITH (+)-schisandrin B; 1,2-dimethylhydrazine; 1-naphthyl isothiocyanate | X | 70541845 | 70549776 | Rat | 249 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 62219 | Gjb1 | gap junction protein, beta 1 | This gene is a member of the gap junction protein (connexin) family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of ions and small molecules between cells. Mutations in a similar gene in human caus e X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Oct 2014] | X | 100419982 | 100429235 | Mouse | 312 | symbol , PhenoGen | gene, protein-coding, REVIEWED [RefSeq] |
| 732555 | GJB1 | gap junction protein beta 1 | This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino a cid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008] | X | 71215239 | 71225516 | Human | 1022 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 8912475 | Gjb1 | gap junction protein beta 1 | 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); autoimmune thyroiditis (ortholog); cerebellar ataxia (ortholo g); FOUND IN cytoplasm (ortholog); gap junction (ortholog); lateral plasma membrane (ortholog) | NW_004955475 | 10779415 | 10787910 | Chinchilla | 48 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11724310 | GJB1 | gap junction protein beta 1 | ENCODES a protein that exhibits gap junction channel activity (ortholog); INVOLVED IN epididymis development (ortholog); purine ribonucleotide transport (ortholog); ASSOCIATED WITH adenoma (ortholog); autoimmune thyroiditis (ortholog); cerebellar ataxia (ortholog); FOUND IN gap junction (ortholog); lateral plasma membrane (ortholog); protein-containing complex (ortholog) | X | 60490579 | 60492606 | Bonobo | 55 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12392169 | GJB1 | gap junction protein beta 1 | ENCODES a protein that exhibits gap junction channel activity (ortholog); INVOLVED IN epididymis development (ortholog); purine ribonucleotide transport (ortholog); ASSOCIATED WITH adenoma (ortholog); autoimmune thyroiditis (ortholog); cerebellar ataxia (ortholog); FOUND IN gap junction (ortholog); lateral plasma membrane (ortholog); protein-containing complex (ortholog) | X | 55565995 | 55575332 | Dog | 56 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12731976 | Gjb1 | gap junction protein beta 1 | ENCODES a protein that exhibits gap junction channel activity (ortholog); INVOLVED IN epididymis development (ortholog); purine ribonucleotide transport (ortholog); ASSOCIATED WITH adenoma (ortholog); autoimmune thyroiditis (ortholog); cerebellar ataxia (ortholog); FOUND IN gap junction (ortholog); lateral plasma membrane (ortholog); protein-containing complex (ortholog) | NW_004936762 | 389655 | 398035 | Squirrel | 55 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18770472 | GJB1 | gap junction protein beta 1 | ENCODES a protein that exhibits gap junction channel activity (ortholog); INVOLVED IN epididymis development (ortholog); purine ribonucleotide transport (ortholog); ASSOCIATED WITH adenoma (ortholog); autoimmune thyroiditis (ortholog); cerebellar ataxia (ortholog); FOUND IN gap junction (ortholog); lateral plasma membrane (ortholog); protein-containing complex (ortholog) | | | | Green Monkey | 55 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18906133 | Gjb1 | gap junction protein beta 1 | ENCODES a protein that exhibits gap junction channel activity (ortholog); INVOLVED IN epididymis development (ortholog); purine ribonucleotide transport (ortholog); ASSOCIATED WITH adenoma (ortholog); autoimmune thyroiditis (ortholog); cerebellar ataxia (ortholog); FOUND IN gap junction (ortholog); lateral plasma membrane (ortholog); protein-containing complex (ortholog) | | | | Naked Mole-Rat | 55 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 625996358 | Gjb1 | gap junction protein beta 1 | 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); autoimmune thyroiditis (ortholog); cerebellar ataxia (ortholo g); FOUND IN cytoplasm (ortholog); gap junction (ortholog); lateral plasma membrane (ortholog) | | | | Black Rat | 38 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155234741 | gjb1 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 14278914 | GJB1 | gap junction protein beta 1 | ENCODES a protein that exhibits gap junction channel activity (ortholog); INVOLVED IN epididymis development (ortholog); purine ribonucleotide transport (ortholog); ASSOCIATED WITH adenoma (ortholog); autoimmune thyroiditis (ortholog); cerebellar ataxia (ortholog); FOUND IN plasma membrane; gap junc tion (ortholog); lateral plasma membrane (ortholog); INTERACTS WITH deoxynivalenol | | | | Pig | 59 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155249052 | gjb1.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155234742 | gjb1.S | | | | | | African Clawed Frog | | symbol | gene, null |