ERC1 - ELKS/RAB6-interacting/CAST family member 1 Gene

Also Known as ELKS; Cast2; ERC-1; RAB6IP2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23085

About ERC1

Cytogenetic location: 12p13.33 Genomic coordinates (GRCh38): 12:989,959-1,495,933 (from NCBI)

This gene has 33 transcripts (splice variants), 275 orthologues, 1 paralogue and is associated with 82 phenotypes. Ubiquitous expression in thyroid (RPKM 7.0), esophagus (RPKM 6.1) and 25 other tissues.

Summary

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 thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ERC1 Products (3)

mRNA	Protein	Name
NM_001301248.1	NP_001288177.1	ELKS/Rab6-interacting/CAST family member 1 isoform zeta
NM_178039.4	NP_829883.1	ELKS/Rab6-interacting/CAST family member 1 isoform delta
NM_178040.4	NP_829884.1	ELKS/Rab6-interacting/CAST family member 1 isoform epsilon

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12391317	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in I-kappaB phosphorylation	IDA IDA: Inferred from direct assay	15218148	GOA
involved in positive regulation of NF-kappaB transcription factor activity	IDA IDA: Inferred from direct assay	15218148	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	15218148	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of IkappaB kinase complex	IDA IDA: Inferred from direct assay	15218148	GOA
located in centrosome	IDA IDA: Inferred from direct assay	27224062	GOA
located in ciliary basal body	IDA IDA: Inferred from direct assay	27224062	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	15218148	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ERC1 Protein Structure

Cast

RBD-FIP

0
200
400
600
800
1000
1116 a.a.

Protein Preferred Names	Protein Names
ELKS/Rab6-interacting/CAST family member 1	RAB6 interacting protein 2

Related Diseases

Diseases	Alias
Differentiated Thyroid Carcinoma	Papillary Or Follicular Thyroid Carcinoma Well-Differentiated Thyroid Carcinoma Differentiated Thyroid Gland Carcinoma
Distal Monosomy 12p	12p13.33 Microdeletion Syndrome Del(12)(P13.33) Distal Deletion 12p
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	MDFPMR Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lambert-Eaton Myasthenic Syndrome	Lambert-Eaton Syndrome Eaton-Lambert Syndrome Lems Lambert Eaton Myasthenic Syndrome Eaton Lambert Syndrome Lambert Eaton Syndrome Myasthenic Syndrome Of Lambert-Eaton Myasthenic-Myopathic Syndrome Of Lambert-Eaton Lems - [Lambert-Eaton Myasthenic Syndrome]
Atrophy Of Prostate
Cone-Rod Dystrophy 7	CORD7 Dystrophy, Cone-Rod, Type 7 Retinitis Pigmentosa 7
Salpingo-Oophoritis	Tubo-Ovarian Inflammatory Disease Salpingitis/Oophoritis Suppurative Salpingo Oophoritis Tubo-Ovarian Inflammation Tubo-Ovarian Inflammatory Disorder Purulent Salpingo Oophoritis Septic Salpingo Oophoritis Salpingo-Ovaritis Inflammation Oviduct Ruptured Salpingo Oophoritis Pyosalpinx Rupture
Pontocerebellar Hypoplasia, Type 2e	Pontocerebellar Hypoplasia Type 2 Pontocerebellar Hypoplasia Type 2e Pch2 PCH2E Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy Pontocerebellar Hypoplasia 2e Pcca2 Progressive Cerebello-Cerebral Atrophy Type 2 Doid:0112328 Hypoplasia, Pontocerebellar, Type 2e Pontocerebellar Hypoplasia, Type 2d Pontocerebellar Hypoplasia Type 2a
Specific Language Impairment	Language Impairment, Specific

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04476	ERC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ERC1	VGNC	VGNC:61928
Canis familiaris	ERC1	VGNC	VGNC:40439
Macaca mulatta	ERC1	VGNC	VGNC:99926
Mus musculus	ERC1	MGD	MGI:2151013
Bos taurus	ERC1	VGNC	VGNC:28566
Rattus norvegicus	ERC1	RGD	RGD:628733
Others	ERC1	NCBI