Human Gene ERC1 (ENST00000546231.6) Description and Page Index
  Description: ELKS/RAB6-interacting/CAST family member 1 (from HGNC ERC1)
RefSeq Summary (NR_027948): 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: ENST00000546231.6
Gencode Gene: ENSG00000082805.20
Transcript (Including UTRs)
   Position: hg38 chr12:991,233-1,490,729 Size: 499,497 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg38 chr12:1,027,904-1,490,230 Size: 462,327 Coding Exon Count: 19 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:991,233-1,490,729)mRNA (may differ from genome)Protein (1120 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIPubMedStanford SOURCEUniProtKBWikipedia

-  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 -208.40528-0.395 Picture PostScript Text
3' UTR -150.60499-0.302 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.

-  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    

-  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.
JD495750 - Sequence 476774 from Patent EP1572962.
JD461836 - Sequence 442860 from Patent EP1572962.
JD431797 - Sequence 412821 from Patent EP1572962.
JD198194 - Sequence 179218 from Patent EP1572962.
JD247126 - Sequence 228150 from Patent EP1572962.
LF365453 - JP 2014500723-A/172956: Polycomb-Associated Non-Coding RNAs.
MA601030 - JP 2018138019-A/172956: 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.

-  Other Names for This Gene
  Alternate Gene Symbols: AB015617, uc058jrc.1, X6RLX0
UCSC ID: uc058jrc.1
RefSeq Accession: NR_027948
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.