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

Homo sapiens

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

Gene ID: 23085 | Gene type: protein coding

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

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

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