Human Gene ERC1 (uc001qiz.2) Description and Page Index
  Description: Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant beta, non-coding RNA.
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].
Transcript (Including UTRs)
   Position: hg19 chr12:1,100,404-1,605,099 Size: 504,696 Total Exon Count: 20 Strand: +

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionOther SpeciesmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr12:1,100,404-1,605,099)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerH-INV
HGNCLynxOMIMPubMedStanford SOURCEWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ERC1
CDC HuGE Published Literature: ERC1
Positive Disease Associations: Blood Coagulation Factors , Body Mass Index , Body Weight , Waist Circumference
Related Studies:
  1. Blood Coagulation Factors
    Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903294]
    Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
  2. Body Mass Index
    , , . [PubMed 0]
  3. Body Mass Index
    , , . [PubMed 0]
           more ... click here to view the complete list

-  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.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog

-  Descriptions from all associated GenBank mRNAs
  LF384179 - JP 2014500723-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.
AK097177 - Homo sapiens cDNA FLJ39858 fis, clone SPLEN2015031.
MA619756 - JP 2018138019-A/191682: Polycomb-Associated Non-Coding RNAs.
LF207363 - JP 2014500723-A/14866: Polycomb-Associated Non-Coding RNAs.
JC506661 - Sequence 29 from Patent EP2733220.
JC737773 - Sequence 29 from Patent WO2014075939.
JC506666 - Sequence 34 from Patent EP2733220.
JC737778 - Sequence 34 from Patent WO2014075939.
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.
JD084064 - Sequence 65088 from Patent EP1572962.
JD385609 - Sequence 366633 from Patent EP1572962.
LF365446 - JP 2014500723-A/172949: Polycomb-Associated Non-Coding RNAs.
LF365445 - JP 2014500723-A/172948: Polycomb-Associated Non-Coding RNAs.
LF365444 - JP 2014500723-A/172947: Polycomb-Associated Non-Coding RNAs.
LF365443 - JP 2014500723-A/172946: Polycomb-Associated Non-Coding RNAs.
LF365442 - JP 2014500723-A/172945: Polycomb-Associated Non-Coding RNAs.
MA601030 - JP 2018138019-A/172956: Polycomb-Associated Non-Coding RNAs.
MA601023 - JP 2018138019-A/172949: Polycomb-Associated Non-Coding RNAs.
MA601022 - JP 2018138019-A/172948: Polycomb-Associated Non-Coding RNAs.
MA601021 - JP 2018138019-A/172947: Polycomb-Associated Non-Coding RNAs.
MA601020 - JP 2018138019-A/172946: Polycomb-Associated Non-Coding RNAs.
MA601019 - JP 2018138019-A/172945: Polycomb-Associated Non-Coding RNAs.
MA442940 - JP 2018138019-A/14866: Polycomb-Associated Non-Coding RNAs.
LF365438 - JP 2014500723-A/172941: Polycomb-Associated Non-Coding RNAs.
LF365437 - JP 2014500723-A/172940: Polycomb-Associated Non-Coding RNAs.
LF365436 - JP 2014500723-A/172939: Polycomb-Associated Non-Coding RNAs.
LF365430 - JP 2014500723-A/172933: Polycomb-Associated Non-Coding RNAs.
LF365429 - JP 2014500723-A/172932: Polycomb-Associated Non-Coding RNAs.
LF365423 - JP 2014500723-A/172926: Polycomb-Associated Non-Coding RNAs.
LF365422 - JP 2014500723-A/172925: Polycomb-Associated Non-Coding RNAs.
LF365421 - JP 2014500723-A/172924: Polycomb-Associated Non-Coding RNAs.
LF365420 - JP 2014500723-A/172923: Polycomb-Associated Non-Coding RNAs.
MA601015 - JP 2018138019-A/172941: Polycomb-Associated Non-Coding RNAs.
MA601014 - JP 2018138019-A/172940: Polycomb-Associated Non-Coding RNAs.
MA601013 - JP 2018138019-A/172939: Polycomb-Associated Non-Coding RNAs.
MA601007 - JP 2018138019-A/172933: Polycomb-Associated Non-Coding RNAs.
MA601006 - JP 2018138019-A/172932: Polycomb-Associated Non-Coding RNAs.
MA601000 - JP 2018138019-A/172926: Polycomb-Associated Non-Coding RNAs.
MA600999 - JP 2018138019-A/172925: Polycomb-Associated Non-Coding RNAs.
MA600998 - JP 2018138019-A/172924: 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.
LF365418 - JP 2014500723-A/172921: Polycomb-Associated Non-Coding RNAs.
LF365417 - JP 2014500723-A/172920: Polycomb-Associated Non-Coding RNAs.
MA600996 - JP 2018138019-A/172922: Polycomb-Associated Non-Coding RNAs.
MA600995 - JP 2018138019-A/172921: 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.
LF365405 - JP 2014500723-A/172908: Polycomb-Associated Non-Coding RNAs.
JD390763 - Sequence 371787 from Patent EP1572962.
JD203898 - Sequence 184922 from Patent EP1572962.
MA600984 - JP 2018138019-A/172910: Polycomb-Associated Non-Coding RNAs.
MA600982 - JP 2018138019-A/172908: Polycomb-Associated Non-Coding RNAs.
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.
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.
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.
JD462347 - Sequence 443371 from Patent EP1572962.
JD138337 - Sequence 119361 from Patent EP1572962.
JD138338 - Sequence 119362 from Patent EP1572962.
JD138339 - Sequence 119363 from Patent EP1572962.
AK056312 - Homo sapiens cDNA FLJ31750 fis, clone NT2RI2007406.
MA600976 - JP 2018138019-A/172902: Polycomb-Associated Non-Coding RNAs.
MA600975 - JP 2018138019-A/172901: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: NR_027948
UCSC ID: uc001qiz.2
RefSeq Accession: NR_027948

-  Gene Model Information
category: nearCoding nonsense-mediated-decay: yes RNA accession: NR_027948.1
exon count: 20CDS single in 3' UTR: no RNA size: 9471
ORF size: 0CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5593.00frame shift in genome: no % Coverage: 99.81
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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