Human Gene ERC1 (ENST00000360905.9) Description and Page Index
  Description: Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA. (from RefSeq NM_178040)
RefSeq Summary (NM_178040): 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].
Gencode Transcript: ENST00000360905.9
Gencode Gene: ENSG00000082805.20
Transcript (Including UTRs)
   Position: hg38 chr12:991,223-1,495,931 Size: 504,709 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg38 chr12:1,027,904-1,490,230 Size: 462,327 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:991,223-1,495,931)mRNA (may differ from genome)Protein (1116 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: RB6I2_HUMAN
DESCRIPTION: RecName: Full=ELKS/Rab6-interacting/CAST family member 1; Short=ERC-1; AltName: Full=Rab6-interacting protein 2;
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.
SUBUNIT: 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).
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Membrane; Peripheral membrane protein (By similarity). Golgi apparatus membrane; Peripheral membrane protein (By similarity). Note=In neurons, localized closed to presynaptic membrane. Recruited on Golgi membranes by RAB6A in a GTP-dependent manner (By similarity).
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.
DISEASE: Defects in ERC1 are a cause of thyroid papillary carcinoma (TPC) [MIM:188550]. TPC is 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=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.
SIMILARITY: Contains 1 FIP-RBD domain.
SEQUENCE CAUTION: Sequence=AAH68006.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA83033.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAA90975.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ELKSID503.html";

-  MalaCards Disease Associations
  MalaCards Gene Search: ERC1
Diseases sorted by gene-association score: differentiated thyroid carcinoma* (82), distal monosomy 12p* (25), breast papillary carcinoma (16), lambert-eaton myasthenic syndrome (12), childhood apraxia of speech (10), chronic wasting disease (9), pierson syndrome (7), kuru (7), thyroid cancer, nonmedullary, 1 (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.53 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 282.46 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -93.30256-0.364 Picture PostScript Text
3' UTR -1897.905701-0.333 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019323 - CAZ_cplx_RIM-bd_prot
IPR019018 - Rab-bd_FIP-RBD

Pfam Domains:
PF10174 - RIM-binding protein of the cytomatrix active zone
PF09457 - FIP domain

ModBase Predicted Comparative 3D Structure on Q8IUD2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0017137 Rab GTPase binding
GO:0030165 PDZ domain binding
GO:0043522 leucine zipper domain binding
GO:0045296 cadherin binding

Biological Process:
GO:0006355 regulation of transcription, DNA-templated
GO:0007252 I-kappaB phosphorylation
GO:0007275 multicellular organism development
GO:0015031 protein transport
GO:0042147 retrograde transport, endosome to Golgi
GO:0043066 negative regulation of apoptotic process
GO:0051092 positive regulation of NF-kappaB transcription factor activity

Cellular Component:
GO:0000139 Golgi membrane
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0008385 IkappaB kinase complex
GO:0016020 membrane
GO:0042734 presynaptic membrane
GO:0045202 synapse
GO:0048786 presynaptic active zone


-  Descriptions from all associated GenBank mRNAs
  LF384179 - JP 2014500723-A/191682: Polycomb-Associated Non-Coding RNAs.
MA619756 - JP 2018138019-A/191682: Polycomb-Associated Non-Coding RNAs.
AB015617 - Homo sapiens ELKS mRNA, complete cds.
AK091577 - Homo sapiens cDNA FLJ34258 fis, clone FEBRA1000008, highly similar to Homo sapiens ELKS mRNA.
AB053470 - Homo sapiens mRNA for ELKS delta, complete cds.
AB053468 - Homo sapiens mRNA for ELKS beta, complete cds.
AB053469 - Homo sapiens mRNA for ELKS gamma, complete cds.
AB053471 - Homo sapiens mRNA for ELKS epsilon, complete cds.
BC132782 - Homo sapiens ELKS/RAB6-interacting/CAST family member 1, mRNA (cDNA clone MGC:164413 IMAGE:40146804), complete cds.
BC132784 - Homo sapiens ELKS/RAB6-interacting/CAST family member 1, mRNA (cDNA clone MGC:164415 IMAGE:40146806), complete cds.
BC144287 - Homo sapiens cDNA clone IMAGE:9052807.
AB029004 - Homo sapiens mRNA for KIAA1081 protein, partial cds.
BC068006 - Homo sapiens ELKS/RAB6-interacting/CAST family member 1, mRNA (cDNA clone IMAGE:6142241), partial cds.
AB385424 - Synthetic construct DNA, clone: pF1KA1081, Homo sapiens ERC1 gene for ELKS/RAB6-interacting/CAST family member 1, complete cds, without stop codon, in Flexi system.
AK294351 - Homo sapiens cDNA FLJ58159 complete cds, highly similar to RAB6-interacting protein 2.
AK309992 - Homo sapiens cDNA, FLJ17034.
AK092201 - Homo sapiens cDNA FLJ34882 fis, clone NT2NE2016387, moderately similar to Homo sapiens ELKS mRNA.
BC037377 - Homo sapiens RAB6 interacting protein 2, mRNA (cDNA clone IMAGE:4343516).
AK000148 - Homo sapiens cDNA FLJ20141 fis, clone COL07243.
LF207363 - JP 2014500723-A/14866: Polycomb-Associated Non-Coding RNAs.
MA442940 - JP 2018138019-A/14866: Polycomb-Associated Non-Coding RNAs.
JD084064 - Sequence 65088 from Patent EP1572962.
JD385609 - Sequence 366633 from Patent EP1572962.
LF365446 - JP 2014500723-A/172949: Polycomb-Associated Non-Coding RNAs.
MA601023 - JP 2018138019-A/172949: Polycomb-Associated Non-Coding RNAs.
LF365445 - JP 2014500723-A/172948: Polycomb-Associated Non-Coding RNAs.
MA601022 - JP 2018138019-A/172948: Polycomb-Associated Non-Coding RNAs.
LF365444 - JP 2014500723-A/172947: Polycomb-Associated Non-Coding RNAs.
MA601021 - JP 2018138019-A/172947: Polycomb-Associated Non-Coding RNAs.
LF365443 - JP 2014500723-A/172946: Polycomb-Associated Non-Coding RNAs.
MA601020 - JP 2018138019-A/172946: Polycomb-Associated Non-Coding RNAs.
LF365442 - JP 2014500723-A/172945: Polycomb-Associated Non-Coding RNAs.
MA601019 - JP 2018138019-A/172945: Polycomb-Associated Non-Coding RNAs.
LF365438 - JP 2014500723-A/172941: Polycomb-Associated Non-Coding RNAs.
MA601015 - JP 2018138019-A/172941: Polycomb-Associated Non-Coding RNAs.
LF365437 - JP 2014500723-A/172940: Polycomb-Associated Non-Coding RNAs.
MA601014 - JP 2018138019-A/172940: Polycomb-Associated Non-Coding RNAs.
LF365436 - JP 2014500723-A/172939: Polycomb-Associated Non-Coding RNAs.
MA601013 - JP 2018138019-A/172939: Polycomb-Associated Non-Coding RNAs.
LF365430 - JP 2014500723-A/172933: Polycomb-Associated Non-Coding RNAs.
MA601007 - JP 2018138019-A/172933: Polycomb-Associated Non-Coding RNAs.
LF365429 - JP 2014500723-A/172932: Polycomb-Associated Non-Coding RNAs.
MA601006 - JP 2018138019-A/172932: Polycomb-Associated Non-Coding RNAs.
LF365423 - JP 2014500723-A/172926: Polycomb-Associated Non-Coding RNAs.
MA601000 - JP 2018138019-A/172926: Polycomb-Associated Non-Coding RNAs.
LF365422 - JP 2014500723-A/172925: Polycomb-Associated Non-Coding RNAs.
MA600999 - JP 2018138019-A/172925: Polycomb-Associated Non-Coding RNAs.
LF365421 - JP 2014500723-A/172924: Polycomb-Associated Non-Coding RNAs.
MA600998 - JP 2018138019-A/172924: Polycomb-Associated Non-Coding RNAs.
LF365420 - JP 2014500723-A/172923: Polycomb-Associated Non-Coding RNAs.
MA600997 - JP 2018138019-A/172923: Polycomb-Associated Non-Coding RNAs.
LF365419 - JP 2014500723-A/172922: Polycomb-Associated Non-Coding RNAs.
MA600996 - JP 2018138019-A/172922: Polycomb-Associated Non-Coding RNAs.
LF365418 - JP 2014500723-A/172921: Polycomb-Associated Non-Coding RNAs.
MA600995 - JP 2018138019-A/172921: Polycomb-Associated Non-Coding RNAs.
LF365417 - JP 2014500723-A/172920: Polycomb-Associated Non-Coding RNAs.
MA600994 - JP 2018138019-A/172920: Polycomb-Associated Non-Coding RNAs.
LF365407 - JP 2014500723-A/172910: Polycomb-Associated Non-Coding RNAs.
MA600984 - JP 2018138019-A/172910: Polycomb-Associated Non-Coding RNAs.
LF365405 - JP 2014500723-A/172908: Polycomb-Associated Non-Coding RNAs.
MA600982 - JP 2018138019-A/172908: Polycomb-Associated Non-Coding RNAs.
AK097177 - Homo sapiens cDNA FLJ39858 fis, clone SPLEN2015031.
JD390763 - Sequence 371787 from Patent EP1572962.
JD203898 - Sequence 184922 from Patent EP1572962.
JD483664 - Sequence 464688 from Patent EP1572962.
JD134285 - Sequence 115309 from Patent EP1572962.
JD491602 - Sequence 472626 from Patent EP1572962.
JD388078 - Sequence 369102 from Patent EP1572962.
JD271453 - Sequence 252477 from Patent EP1572962.
JD357843 - Sequence 338867 from Patent EP1572962.
JD560356 - Sequence 541380 from Patent EP1572962.
JD274260 - Sequence 255284 from Patent EP1572962.
JD502831 - Sequence 483855 from Patent EP1572962.
JD487264 - Sequence 468288 from Patent EP1572962.
DQ573488 - Homo sapiens piRNA piR-41600, complete sequence.
JD456138 - Sequence 437162 from Patent EP1572962.
JD378561 - Sequence 359585 from Patent EP1572962.
JD286473 - Sequence 267497 from Patent EP1572962.
JD214463 - Sequence 195487 from Patent EP1572962.
JD566424 - Sequence 547448 from Patent EP1572962.
JD045918 - Sequence 26942 from Patent EP1572962.
JD136625 - Sequence 117649 from Patent EP1572962.
JD547564 - Sequence 528588 from Patent EP1572962.
JD241125 - Sequence 222149 from Patent EP1572962.
JD043619 - Sequence 24643 from Patent EP1572962.
JD134748 - Sequence 115772 from Patent EP1572962.
LF365399 - JP 2014500723-A/172902: Polycomb-Associated Non-Coding RNAs.
MA600976 - JP 2018138019-A/172902: Polycomb-Associated Non-Coding RNAs.
JD143656 - Sequence 124680 from Patent EP1572962.
JD092278 - Sequence 73302 from Patent EP1572962.
JD288600 - Sequence 269624 from Patent EP1572962.
JD386096 - Sequence 367120 from Patent EP1572962.
JD215653 - Sequence 196677 from Patent EP1572962.
JD496879 - Sequence 477903 from Patent EP1572962.
DQ595130 - Homo sapiens piRNA piR-61242, complete sequence.
BC073885 - Homo sapiens cDNA clone IMAGE:4991354, partial cds.
BC005065 - Homo sapiens ELKS/RAB6-interacting/CAST family member 1, mRNA (cDNA clone IMAGE:3346702).
LF365398 - JP 2014500723-A/172901: Polycomb-Associated Non-Coding RNAs.
MA600975 - JP 2018138019-A/172901: Polycomb-Associated Non-Coding RNAs.
CU674987 - Synthetic construct Homo sapiens gateway clone IMAGE:100018461 5' read ERC1 mRNA.
KJ902277 - Synthetic construct Homo sapiens clone ccsbBroadEn_11671 ERC1 gene, encodes complete protein.
JD319952 - Sequence 300976 from Patent EP1572962.
JD138337 - Sequence 119361 from Patent EP1572962.
JD138338 - Sequence 119362 from Patent EP1572962.
JD138339 - Sequence 119363 from Patent EP1572962.
JD175999 - Sequence 157023 from Patent EP1572962.
JD176000 - Sequence 157024 from Patent EP1572962.
JD176001 - Sequence 157025 from Patent EP1572962.
AK056312 - Homo sapiens cDNA FLJ31750 fis, clone NT2RI2007406.

-  Other Names for This Gene
  Alternate Gene Symbols: A2RU77, A7E295, D3DUP7, D3DUP8, ELKS, KIAA1081, NM_178040, Q6NVK2, Q8IUD2, Q8IUD3, Q8IUD4, Q8IUD5, Q8NAS1, Q9NXN5, Q9UIK7, Q9UPS1, RAB6IP2, RB6I2_HUMAN, uc001qjb.1, uc001qjb.2, uc001qjb.3, uc001qjb.4
UCSC ID: uc001qjb.4
RefSeq Accession: NM_178040
Protein: Q8IUD2 (aka RB6I2_HUMAN)
CCDS: CCDS8508.1, CCDS53732.1, CCDS76504.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.