| 628733 | Erc1 | ELKS/RAB6-interacting/CAST family member 1 | ENCODES a protein that exhibits PDZ domain binding; small GTPase binding (ortholog); structural constituent of presynaptic active zone (ortholog); INVOLVED IN positive regulation of canonical NF-kappaB signal transduction (ortholog); regulation of calcium-dependent activation of synaptic vesicle fus ion (ortholog); regulation of DNA-templated transcription (ortholog); PARTICIPATES IN interleukin-1 signaling pathway; nuclear factor kappa B signaling pathway; ASSOCIATED WITH Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation (ortholog); FOUND IN membrane; postsynaptic density; presynaptic active zone cytoplasmic component; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran | 4 | 154435936 | 154727987 | Rat | 154 | symbol , PhenoGen , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 731980 | Erc1 | ELKS/RAB6-interacting/CAST family member 1 | Enables small GTPase binding activity. A structural constituent of presynaptic active zone. Involved in regulation of calcium-dependent activation of synaptic vesicle fusion; regulation of presynaptic cytosolic calcium ion concentration; and synaptic vesicle priming. Acts upstream of or within retro grade transport, endosome to Golgi. Located in cytoplasm; podosome; and synapse. Is active in GABA-ergic synapse; glutamatergic synapse; and presynaptic cytosol. Is expressed in several structures, including genitourinary system; gut gland; oral epithelium; retina; and telencephalon. Orthologous to human ERC1 (ELKS/RAB6-interacting/CAST family member 1). [provided by Alliance of Genome Resources, Jul 2025] | 6 | 119547757 | 119830985 | Mouse | 155 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 1604628 | ERC1 | ELKS/RAB6-interacting/CAST family member 1 | The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thy roid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] | 12 | 989959 | 1495933 | Human | 143 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 8907916 | Erc1 | ELKS/RAB6-interacting/CAST family member 1 | ENCODES a protein that exhibits PDZ domain binding (ortholog); small GTPase binding (ortholog); structural constituent of presynaptic active zone (ortholog); INVOLVED IN positive regulation of canonical NF-kappaB signal transduction (ortholog); regulation of calcium-dependent activation of synaptic vesicle fusion (ortholog); regulation of DNA-templated transcription (ortholog); PARTICIPATES IN interleukin-1 signaling pathway; nuclear factor kappa B signaling pathway; ASSOCIATED WITH Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation (ortholog); FOUND IN centrosome (ortholog); ciliary basal body (ortholog); cytoplasm (ortholog) | NW_004955454 | 3584910 | 4036276 | Chinchilla | 36 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11843012 | ERC1 | ELKS/RAB6-interacting/CAST family member 1 | ENCODES a protein that exhibits PDZ domain binding (ortholog); small GTPase binding (ortholog); INVOLVED IN regulation of calcium-dependent activation of synaptic vesicle fusion (ortholog); regulation of presynaptic cytosolic calcium ion concentration (ortholog); retrograde transport, endosome to Go lgi (ortholog); PARTICIPATES IN interleukin-1 signaling pathway; nuclear factor kappa B signaling pathway; ASSOCIATED WITH Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation (ortholog); FOUND IN GABA-ergic synapse (ortholog); glutamatergic synapse (ortholog); membrane (ortholog) | 12 | 1066034 | 1597562 | Bonobo | 42 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12319410 | ERC1 | ELKS/RAB6-interacting/CAST family member 1 | ENCODES a protein that exhibits PDZ domain binding (ortholog); small GTPase binding (ortholog); INVOLVED IN regulation of calcium-dependent activation of synaptic vesicle fusion (ortholog); regulation of presynaptic cytosolic calcium ion concentration (ortholog); retrograde transport, endosome to Go lgi (ortholog); PARTICIPATES IN interleukin-1 signaling pathway; nuclear factor kappa B signaling pathway; ASSOCIATED WITH Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation (ortholog); FOUND IN GABA-ergic synapse (ortholog); glutamatergic synapse (ortholog); membrane (ortholog) | 27 | 43004243 | 43544260 | Dog | 39 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12729897 | Erc1 | ELKS/RAB6-interacting/CAST family member 1 | ENCODES a protein that exhibits PDZ domain binding (ortholog); small GTPase binding (ortholog); INVOLVED IN regulation of calcium-dependent activation of synaptic vesicle fusion (ortholog); regulation of presynaptic cytosolic calcium ion concentration (ortholog); retrograde transport, endosome to Go lgi (ortholog); PARTICIPATES IN interleukin-1 signaling pathway; nuclear factor kappa B signaling pathway; ASSOCIATED WITH Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation (ortholog); FOUND IN GABA-ergic synapse (ortholog); glutamatergic synapse (ortholog); membrane (ortholog) | NW_004936606 | 1201420 | 1713894 | Squirrel | 42 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 13871214 | ERC1 | ELKS/RAB6-interacting/CAST family member 1 | ENCODES a protein that exhibits PDZ domain binding (ortholog); small GTPase binding (ortholog); INVOLVED IN regulation of calcium-dependent activation of synaptic vesicle fusion (ortholog); regulation of presynaptic cytosolic calcium ion concentration (ortholog); retrograde transport, endosome to Go lgi (ortholog); PARTICIPATES IN interleukin-1 signaling pathway; nuclear factor kappa B signaling pathway; ASSOCIATED WITH Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation (ortholog); FOUND IN GABA-ergic synapse (ortholog); glutamatergic synapse (ortholog); membrane (ortholog); INTERACTS WITH deoxynivalenol | | | | Pig | 40 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18453596 | ERC1 | ELKS/RAB6-interacting/CAST family member 1 | ENCODES a protein that exhibits PDZ domain binding (ortholog); small GTPase binding (ortholog); INVOLVED IN regulation of calcium-dependent activation of synaptic vesicle fusion (ortholog); regulation of presynaptic cytosolic calcium ion concentration (ortholog); retrograde transport, endosome to Go lgi (ortholog); PARTICIPATES IN interleukin-1 signaling pathway; nuclear factor kappa B signaling pathway; ASSOCIATED WITH Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation (ortholog); FOUND IN GABA-ergic synapse (ortholog); glutamatergic synapse (ortholog); membrane (ortholog) | | | | Green Monkey | 42 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155249995 | erc1 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 14376387 | ERC1 | | | | | | Yeast | | symbol | gene, null |
| 18905286 | Erc1 | ELKS/RAB6-interacting/CAST family member 1 | ENCODES a protein that exhibits PDZ domain binding (ortholog); small GTPase binding (ortholog); INVOLVED IN positive regulation of canonical NF-kappaB signal transduction (ortholog); regulation of calcium-dependent activation of synaptic vesicle fusion (ortholog); regulation of DNA-templated transcr iption (ortholog); PARTICIPATES IN interleukin-1 signaling pathway; nuclear factor kappa B signaling pathway; ASSOCIATED WITH Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation (ortholog); FOUND IN centrosome (ortholog); ciliary basal body (ortholog); cytoplasm (ortholog) | | | | Naked Mole-Rat | 43 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 625859067 | Erc1 | ELKS/RAB6-interacting/CAST family member 1 | ENCODES a protein that exhibits PDZ domain binding (ortholog); small GTPase binding (ortholog); structural constituent of presynaptic active zone (ortholog); INVOLVED IN positive regulation of canonical NF-kappaB signal transduction (ortholog); regulation of calcium-dependent activation of synaptic vesicle fusion (ortholog); regulation of DNA-templated transcription (ortholog); PARTICIPATES IN interleukin-1 signaling pathway; nuclear factor kappa B signaling pathway; ASSOCIATED WITH Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation (ortholog); FOUND IN centrosome (ortholog); ciliary basal body (ortholog); cytoplasm (ortholog) | | | | Black Rat | 36 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155249994 | erc1.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155254184 | erc1.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 616940289 | ERC1-AS1 | ERC1 antisense RNA 1 | | | | | Human | | symbol , GTEx , COSMIC , name , Human Proteome Map | gene, ncrna |
| 16564556 | AC004672.2 | novel transcript, sense intronic to ERC1 | | | | | Human | | name | gene, lncrna |