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Aliases for ERC1 Gene

Aliases for ERC1 Gene

  • ELKS/RAB6-Interacting/CAST Family Member 1 2 3
  • RAB6 Interacting Protein 2 2 3
  • RAB6IP2 3 4
  • ERC-1 3 4
  • ELKS 3 4
  • Rab6-Interacting Protein 2 4
  • KIAA1081 4
  • Cast2 3

External Ids for ERC1 Gene

Previous HGNC Symbols for ERC1 Gene

  • RAB6IP2

Previous GeneCards Identifiers for ERC1 Gene

  • GC12P001100

Summaries for ERC1 Gene

Entrez Gene Summary for ERC1 Gene

  • 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]

GeneCards Summary for ERC1 Gene

ERC1 (ELKS/RAB6-Interacting/CAST Family Member 1) is a Protein Coding gene. Diseases associated with ERC1 include distal monosomy 12p and breast papillary carcinoma. Among its related pathways are Cytoskeletal Signaling and NF-kappaB Signaling. GO annotations related to this gene include PDZ domain binding and leucine zipper domain binding. An important paralog of this gene is ERC2.

UniProtKB/Swiss-Prot for ERC1 Gene

  • Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport.

Gene Wiki entry for ERC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERC1 Gene

Genomics for ERC1 Gene

Regulatory Elements for ERC1 Gene

Genomic Location for ERC1 Gene

990,509 bp from pter
1,495,933 bp from pter
505,425 bases
Plus strand

Genomic View for ERC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ERC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERC1 Gene

Proteins for ERC1 Gene

  • Protein details for ERC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ELKS/Rab6-interacting/CAST family member 1
    Protein Accession:
    Secondary Accessions:
    • A2RU77
    • A7E295
    • D3DUP7
    • D3DUP8
    • Q6NVK2
    • Q8IUD3
    • Q8IUD4
    • Q8IUD5
    • Q8NAS1
    • Q9NXN5
    • Q9UIK7
    • Q9UPS1

    Protein attributes for ERC1 Gene

    1116 amino acids
    Molecular mass:
    128086 Da
    Quaternary structure:
    • Part of a complex with CHUK, IKBKB and IKBKG. Interacts with CHUK, IKBKB and IKBKG. The interaction with IKBKG is independent of CHUK and IKBKB. Interacts with NFKBIA. Isoform 4 interacts with PPFIA1, and through its C-terminus with the PDZ domains of RIMS1 and RIMS2. Interacts with ERC2/CAST1. Interacts with the GTB-bound forms of RAB6A isoform 1 and isoform 2 and with RAB6B. The interaction was strongest with RAB6B, followed by RAB6A isoform 2 and weakest with RAB6A isoform 1 (By similarity).
    • Sequence=AAH68006.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA83033.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA90975.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ERC1 Gene


neXtProt entry for ERC1 Gene

Proteomics data for ERC1 Gene at MOPED

Post-translational modifications for ERC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ERC1 (ERC1)

No data available for DME Specific Peptides for ERC1 Gene

Domains & Families for ERC1 Gene

Protein Domains for ERC1 Gene


Suggested Antigen Peptide Sequences for ERC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 FIP-RBD domain.
  • Contains 1 FIP-RBD domain.
genes like me logo Genes that share domains with ERC1: view

No data available for Gene Families for ERC1 Gene

Function for ERC1 Gene

Molecular function for ERC1 Gene

UniProtKB/Swiss-Prot Function:
Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport.

Gene Ontology (GO) - Molecular Function for ERC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12391317
GO:0017137 Rab GTPase binding ISS --
GO:0030165 PDZ domain binding ISS --
GO:0043522 leucine zipper domain binding NAS 15218148
genes like me logo Genes that share ontologies with ERC1: view
genes like me logo Genes that share phenotypes with ERC1: view

Animal Models for ERC1 Gene

MGI Knock Outs for ERC1:

Animal Model Products

miRNA for ERC1 Gene

miRTarBase miRNAs that target ERC1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ERC1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ERC1 Gene

Localization for ERC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERC1 Gene

Cytoplasm. Membrane; Peripheral membrane protein. Golgi apparatus membrane; Peripheral membrane protein. Note=In neurons, localized closed to presynaptic membrane. Recruited on Golgi membranes by RAB6A in a GTP-dependent manner (By similarity). {ECO:0000250}.

Subcellular locations from

Jensen Localization Image for ERC1 Gene COMPARTMENTS Subcellular localization image for ERC1 gene
Compartment Confidence
cytosol 5
plasma membrane 5
golgi apparatus 3
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ERC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm TAS 15218148
GO:0008385 IkappaB kinase complex IDA 15218148
GO:0042734 presynaptic membrane TAS 12391317
GO:0045202 synapse ISS --
genes like me logo Genes that share ontologies with ERC1: view

Pathways & Interactions for ERC1 Gene

genes like me logo Genes that share pathways with ERC1: view

Pathways by source for ERC1 Gene

2 Cell Signaling Technology pathways for ERC1 Gene
2 BioSystems pathways for ERC1 Gene
1 KEGG pathway for ERC1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for ERC1 Gene


Gene Ontology (GO) - Biological Process for ERC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated NAS 15218148
GO:0007252 I-kappaB phosphorylation IDA 15218148
GO:0007275 multicellular organismal development NAS 15218148
GO:0015031 protein transport IEA --
GO:0042147 retrograde transport, endosome to Golgi ISS --
genes like me logo Genes that share ontologies with ERC1: view

Drugs & Compounds for ERC1 Gene

(2) Drugs for ERC1 Gene - From: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
tyrosine Nutra 547
genes like me logo Genes that share compounds with ERC1: view

Transcripts for ERC1 Gene

Unigene Clusters for ERC1 Gene

ELKS/RAB6-interacting/CAST family member 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ERC1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ERC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
SP1: -
SP2: - -

Relevant External Links for ERC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ERC1 Gene

mRNA expression in normal human tissues for ERC1 Gene

Protein differential expression in normal tissues from HIPED for ERC1 Gene

This gene is overexpressed in Heart (19.0) and Brain (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ERC1 Gene

SOURCE GeneReport for Unigene cluster for ERC1 Gene Hs.601216

mRNA Expression by UniProt/SwissProt for ERC1 Gene

Tissue specificity: Widely expressed. Isoform 2 and isoform 4 are abundantly expressed in brain. Isoform 1 and isoform 3 are predominantly expressed in testis and thyroid, and isoform 1 predominates in other tissues tested.
genes like me logo Genes that share expression patterns with ERC1: view

Protein tissue co-expression partners for ERC1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ERC1 Gene

Orthologs for ERC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ERC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ERC1 35
  • 87.84 (n)
  • 97.31 (a)
ERC1 36
  • 97 (a)
(Canis familiaris)
Mammalia ERC1 35
  • 93.79 (n)
  • 98.75 (a)
ERC1 36
  • 98 (a)
(Mus musculus)
Mammalia Erc1 35
  • 89.55 (n)
  • 97.31 (a)
Erc1 16
Erc1 36
  • 97 (a)
(Pan troglodytes)
Mammalia ERC1 35
  • 99.64 (n)
  • 99.55 (a)
ERC1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Erc1 35
  • 89 (n)
  • 98.61 (a)
(Monodelphis domestica)
Mammalia ERC1 36
  • 90 (a)
(Ornithorhynchus anatinus)
Mammalia ERC1 36
  • 90 (a)
(Gallus gallus)
Aves ERC1 35
  • 82.9 (n)
  • 95.86 (a)
ERC1 36
  • 95 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 95 (a)
-- 36
  • 93 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia erc1 35
  • 75.12 (n)
  • 87.37 (a)
(Danio rerio)
Actinopterygii erc1a 35
  • 70.13 (n)
  • 76.67 (a)
ERC1 (3 of 3) 36
  • 81 (a)
erc1a 36
  • 74 (a)
erc1b 36
  • 81 (a)
fruit fly
(Drosophila melanogaster)
Insecta brp 36
  • 9 (a)
(Caenorhabditis elegans)
Secernentea elks-1 36
  • 13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
Species with no ortholog for ERC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ERC1 Gene

Gene Tree for ERC1 (if available)
Gene Tree for ERC1 (if available)

Paralogs for ERC1 Gene

Paralogs for ERC1 Gene

(1) SIMAP similar genes for ERC1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with ERC1: view

Variants for ERC1 Gene

Sequence variations from dbSNP and Humsavar for ERC1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs721859 -- 1,140,084(-) AGTCT(C/T)ACCAA intron-variant
rs732064 -- 1,448,876(+) CTTGC(A/G)CCGGG intron-variant
rs732844 -- 1,311,736(-) GCATC(A/T)TTTTG intron-variant
rs736098 -- 1,448,095(+) CAGCA(A/G)GTTTT intron-variant
rs739971 -- 1,495,485(-) ACTGG(C/T)GTGGT utr-variant-3-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for ERC1 Gene

Variant ID Type Subtype PubMed ID
nsv898576 CNV Loss 21882294
nsv468960 CNV Gain 19166990
nsv470256 CNV Gain 18288195
dgv1339n71 CNV Gain 21882294
nsv468962 CNV Gain 19166990
nsv524382 CNV Loss 19592680
nsv515491 CNV Loss 19592680
esv2745373 CNV Deletion 23290073
esv2745374 CNV Deletion 23290073
esv32742 CNV Loss 17666407
nsv572 CNV Insertion 18451855
esv2745376 CNV Deletion 23290073
esv1992942 CNV Deletion 18987734
esv999151 CNV Insertion 20482838
esv1611548 CNV Insertion 17803354
esv1000106 CNV Insertion 20482838
esv2745377 CNV Deletion 23290073
esv2745378 CNV Deletion 23290073
esv2745379 CNV Deletion 23290073
esv998250 CNV Deletion 20482838
esv2745380 CNV Deletion 23290073
esv2676743 CNV Deletion 23128226
esv1387135 CNV Deletion 17803354
esv1180168 CNV Deletion 17803354
nsv436147 CNV Deletion 17901297
esv2510640 CNV Deletion 19546169
esv2745381 CNV Deletion 23290073
dgv180e201 CNV Deletion 23290073
esv2745383 CNV Deletion 23290073
esv8484 CNV Loss 19470904
esv1717843 CNV Deletion 17803354
esv2668000 CNV Deletion 23128226
esv2745385 CNV Deletion 23290073
esv1676497 CNV Insertion 17803354
esv1170628 CNV Insertion 17803354
esv1639608 CNV Insertion 17803354
nsv524525 CNV Loss 19592680
esv2745387 CNV Deletion 23290073
esv2745388 CNV Deletion 23290073
nsv898582 CNV Loss 21882294
esv26525 CNV Gain 19812545
nsv519502 CNV Loss 19592680
nsv898583 CNV Gain 21882294
nsv470257 CNV Loss 18288195
esv2427493 CNV Deletion 19546169
esv2669538 CNV Deletion 23128226
nsv819356 CNV Gain 19587683
nsv820397 CNV Deletion 20802225
nsv826177 CNV Loss 20364138
esv2745389 CNV Deletion 23290073
esv2672320 CNV Deletion 23128226
esv24813 CNV Gain 19812545
esv2666524 CNV Deletion 23128226
dgv256e199 CNV Deletion 23128226
esv2617836 CNV Deletion 19546169
esv267468 CNV Insertion 20981092
dgv256n67 CNV Gain 20364138
nsv820884 CNV Deletion 20802225
esv2745390 CNV Deletion 23290073
esv2670650 CNV Deletion 23128226
esv7389 CNV Loss 19470904
esv2487628 CNV Deletion 19546169
esv2745391 CNV Deletion 23290073
esv2385521 CNV Deletion 18987734
esv2674379 CNV Deletion 23128226
nsv520059 CNV Loss 19592680
nsv573 CNV Loss 18451855
esv1002676 CNV Deletion 20482838
esv2662980 CNV Deletion 23128226
esv2745392 CNV Deletion 23290073

Variation tolerance for ERC1 Gene

Residual Variation Intolerance Score: 15.09% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.33; 85.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERC1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERC1 Gene

Disorders for ERC1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ERC1 Gene - From: Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
distal monosomy 12p
  • 12p13.33 microdeletion syndrome
breast papillary carcinoma
  • breast solid papillary carcinoma
childhood apraxia of speech
  • cas
chronic wasting disease
  • wasting disease, chronic
differentiated thyroid carcinoma
  • papillary or follicular thyroid carcinoma
- elite association
Search ERC1 in MalaCards View complete list of genes associated with diseases


  • Thyroid papillary carcinoma (TPC) [MIM:188550]: A common tumor of the thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary carcinomas are malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving ERC1/RAB6IP2 is found in cause of thyroid papillary carcinomas. Translocation t(10;12)(q11;p13) involving RET. In vitro, isoform 1, isoform 3 and isoform 5 participating in a ERC1-RET fusion protein activate tyrosine-protein kinase activity.

Relevant External Links for ERC1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ERC1: view

No data available for Genatlas for ERC1 Gene

Publications for ERC1 Gene

  1. Genomic organization and chromosomal mapping of ELKS, a gene rearranged in a papillary thyroid carcinoma. (PMID: 10697956) Yokota T. … Emi M. (J. Hum. Genet. 2000) 2 23 67
  2. Molecular organization of the presynaptic active zone. (PMID: 16865347) Schoch S. … Gundelfinger E.D. (Cell Tissue Res. 2006) 23 67
  3. ELKS, a protein structurally related to the active zone-associated protein CAST, is expressed in pancreatic beta cells and functions in insulin exocytosis: interaction of ELKS with exocytotic machinery analyzed by total internal reflection fluorescence microscopy. (PMID: 15888548) Ohara-Imaizumi M. … Nagamatsu S. (Mol. Biol. Cell 2005) 23 67
  4. Activation of transcription factor NF-kappaB requires ELKS, an IkappaB kinase regulatory subunit. (PMID: 15218148) Ducut Sigala J.L. … Verma I.M. (Science 2004) 23 67
  5. Characterization of novel Rab6-interacting proteins involved in endosome-to-TGN transport. (PMID: 11929610) Monier S. … Goud B. (Traffic 2002) 2 67

Products for ERC1 Gene

Sources for ERC1 Gene

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