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Aliases for ERC1 Gene

Aliases for ERC1 Gene

  • ELKS/RAB6-Interacting/CAST Family Member 1 2 3 5
  • 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 differentiated thyroid carcinoma and distal monosomy 12p. Among its related pathways are NF-kappa B signaling pathway and Canonical NF-kappaB pathway. 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

Promoters for ERC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ERC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ERC1 Gene

Chromosome:
12
Start:
990,509 bp from pter
End:
1,495,933 bp from pter
Size:
505,425 bases
Orientation:
Plus strand

Genomic View for ERC1 Gene

Genes around ERC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q8IUD2-RB6I2_HUMAN
    Recommended name:
    ELKS/Rab6-interacting/CAST family member 1
    Protein Accession:
    Q8IUD2
    Secondary Accessions:
    • A2RU77
    • A7E295
    • D3DUP7
    • D3DUP8
    • Q6NVK2
    • Q8IUD3
    • Q8IUD4
    • Q8IUD5
    • Q8NAS1
    • Q9NXN5
    • Q9UIK7
    • Q9UPS1

    Protein attributes for ERC1 Gene

    Size:
    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).
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ERC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IUD2

UniProtKB/Swiss-Prot:

RB6I2_HUMAN :
  • Contains 1 FIP-RBD domain.
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: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

Human Phenotype Ontology for ERC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ERC1 Gene

MGI Knock Outs for ERC1:

Animal Model Products

miRNA for ERC1 Gene

miRTarBase miRNAs that target ERC1

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

COMPARTMENTS
Jensen Localization Image for ERC1 Gene COMPARTMENTS Subcellular localization image for ERC1 gene
Compartment Confidence
cytosol 5
plasma membrane 5
golgi apparatus 4
nucleus 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ERC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 BioSystems pathways for ERC1 Gene
1 KEGG pathway for ERC1 Gene

SIGNOR curated interactions for ERC1 Gene

Activates:

Gene Ontology (GO) - Biological Process for ERC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0042147 retrograde transport, endosome to Golgi ISS --
GO:0051092 positive regulation of NF-kappaB transcription factor activity TAS 15218148
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
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:

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: - -
SP3:

Relevant External Links for ERC1 Gene

GeneLoc Exon Structure for
ERC1
ECgene alternative splicing isoforms for
ERC1

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

Q8IUD2-RB6I2_HUMAN
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
cow
(Bos Taurus)
Mammalia ERC1 35
  • 87.84 (n)
  • 97.31 (a)
ERC1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERC1 35
  • 93.79 (n)
  • 98.75 (a)
ERC1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Erc1 35
  • 89.55 (n)
  • 97.31 (a)
Erc1 16
Erc1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ERC1 35
  • 99.64 (n)
  • 99.55 (a)
ERC1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Erc1 35
  • 89 (n)
  • 98.61 (a)
oppossum
(Monodelphis domestica)
Mammalia ERC1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERC1 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERC1 35
  • 82.9 (n)
  • 95.86 (a)
ERC1 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 95 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia erc1 35
  • 75.12 (n)
  • 87.37 (a)
zebrafish
(Danio rerio)
Actinopterygii erc1a 35
  • 70.13 (n)
  • 76.67 (a)
ERC1 (3 of 3) 36
  • 81 (a)
OneToMany
erc1a 36
  • 74 (a)
OneToMany
erc1b 36
  • 81 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta brp 36
  • 9 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea elks-1 36
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToMany
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

ENSEMBL:
Gene Tree for ERC1 (if available)
TreeFam:
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
rs35037408 - 1,028,051(-) CCCAC(C/T)GCCAC nc-transcript-variant, reference, missense
rs12319376 - 1,444,631(+) TGACA(A/G)CCCTC nc-transcript-variant, reference, missense, utr-variant-3-prime
rs886539 -- 1,468,972(+) TCTCC(C/T)TCACG intron-variant
rs886540 -- 1,481,592(+) TTGAA(C/T)CATGC intron-variant
rs886541 -- 1,481,733(+) CATAC(A/G)TTAGA intron-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: 15.1% 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
ERC1
Human Gene Mutation Database (HGMD)
ERC1

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

Disorders for ERC1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ERC1 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
differentiated thyroid carcinoma
  • papillary or follicular thyroid carcinoma
distal monosomy 12p
  • 12p13.33 microdeletion syndrome
breast papillary carcinoma
  • breast solid papillary carcinoma
childhood apraxia of speech
  • articulatory apraxia
lambert-eaton myasthenic syndrome
  • eaton-lambert syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ERC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RB6I2_HUMAN
  • Note=A chromosomal aberration involving ERC1/RAB6IP2 is found in papillary thyroid carcinomas (PTCs). 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. {ECO:0000269 PubMed:10337992}.

Relevant External Links for ERC1

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

No data available for Genatlas for ERC1 Gene

Publications for ERC1 Gene

  1. Fusion of a novel gene, ELKS, to RET due to translocation t(10;12)(q11;p13) in a papillary thyroid carcinoma. (PMID: 10337992) Nakata T. … Emi M. (Genes Chromosomes Cancer 1999) 3 4 23 67
  2. 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 3 23
  3. Activation of transcription factor NF-kappaB requires ELKS, an IkappaB kinase regulatory subunit. (PMID: 15218148) Ducut Sigala J.L. … Verma I.M. (Science 2004) 3 23
  4. Characterization of novel Rab6-interacting proteins involved in endosome-to-TGN transport. (PMID: 11929610) Monier S. … Goud B. (Traffic 2002) 2 3
  5. Differential expression of multiple isoforms of the ELKS mRNAs involved in a papillary thyroid carcinoma. (PMID: 12203787) Nakata T. … Minami S. (Genes Chromosomes Cancer 2002) 3 23

Products for ERC1 Gene

Sources for ERC1 Gene

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