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CCER1 Gene

protein-coding   GIFtS: 35
GCID: GC12M091300

Coiled-Coil Glutamate-Rich Protein 1

(Previous name: chromosome 12 open reading frame 12)
(Previous symbol: C12orf12)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Coiled-Coil Glutamate-Rich Protein 11 2
C12orf121 2 3
Chromosome 12 Open Reading Frame 121
Coiled-Coil Domain-Containing Glutamate-Rich Protein 12

External Ids:    HGNC: 283731   Entrez Gene: 1964772   Ensembl: ENSG000001976517   UniProtKB: Q8TC903   
ORGUL members:         

Export aliases for CCER1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CCER1 Gene:
CCER1 (coiled-coil glutamate-rich protein 1) is a protein-coding gene.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CCER1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCER1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q21.33   Ensembl cytogenetic band:  12q21.33   HGNC cytogenetic band: 12q21.33

CCER1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCER1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M091300:  view genomic region     (about GC identifiers)

Start:
91,299,399 bp from pter      End:
91,348,953 bp from pter
Size:
49,555 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
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UniProtKB/Swiss-Prot: CCER1_HUMAN, Q8TC90 (See protein sequence)
Recommended Name: Coiled-coil domain-containing glutamate-rich protein 1  
Size: 406 amino acids; 46482 Da
Secondary accessions: Q8TC47

Explore the universe of human proteins at neXtProt for CCER1: NX_Q8TC90

Explore proteomics data for CCER1 at MOPED


See CCER1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_689851.1  
ENSEMBL proteins: 
 ENSP00000446773   ENSP00000351727  

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antibodies-online peptides for CCER1

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR027889 CCER1

Graphical View of Domain Structure for InterPro Entry Q8TC90

ProtoNet protein and cluster: Q8TC90


Find genes that share domains with CCER1           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for CCER1

miRNA
Products:
    
miRTarBase miRNAs that target CCER1:
hsa-mir-335-5p (MIRT018074)

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CCER1
Interactions:

    Search GeneGlobe Interaction Network for CCER1

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for CCER1 (Q8TC902, 3 ENSP000003517274) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
RBPMSQ930622, 3, ENSP000003401764MINT-67056 I2D: score=4 STRING: ENSP00000340176
PLSCR1O151622, 3, ENSP000003454944MINT-68042 I2D: score=4 STRING: ENSP00000345494
MDFIQ997502, 3, ENSP000002303214MINT-66760 I2D: score=4 STRING: ENSP00000230321
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for CCER1



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for CCER1 gene: 
NM_152638.2  

Unigene Cluster for CCER1:

Coiled-coil glutamate-rich protein 1
Hs.128574  [show with all ESTs]
Unigene Representative Sequence: BC027600
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000548187 ENST00000549707 ENST00000358859(uc001tbj.3)
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Additional mRNA sequence: 

BC024183.2 BC026075.2 BC027600.2 BC034491.2 

2 DOTS entries:

DT.92068031  DT.99947917 

Selected AceView cDNA sequences (see all 29):

NM_152638 AA448012 AA393269 BX114695 AW274898 BC027600 BU568040 BG719487 
AA906068 BC026075 BG718351 BI460452 AA758509 BC034491 BI462042 AA448156 
BC024183 AW173078 AI201143 BI560306 AI220174 BG719567 BG718731 BG719571 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CCER1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
CCER1 Expression
About this image


CCER1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 3) fully expand
 
 Brain (Nervous System)    fully expand to see all 7 entries
         ganglion/cranial/facial VII   
 
 Eye (Sensory Organs)
         Retina
 
 Spinal Cord (Nervous System)
CCER1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CCER1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.128574
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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of human and mouse.

Orthologs for CCER1 gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ccer11 , 5 RIKEN cDNA 4921510H08 gene5
coiled coil glutamate rich protein 11
72.32(n)1
62.03(a)1
  10 (50.38 cM)5
667161  NM_025724.21  NP_080000.11 
 976930595 


ENSEMBL Gene Tree for CCER1 (if available)
TreeFam Gene Tree for CCER1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CCER1 (see all 148)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 12 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs789668081,2
--88413302(+) CAGGAA/CGAAAT 1 -- int10--------
rs1853324301,2
--88413618(+) GAATGG/TTTGGT 1 -- int10--------
rs619264571,2
C,F--88414167(+) AAAGGT/CAGATA 1 -- ut313Minor allele frequency- C:0.02NA WA 240
rs122969161,2
C,H--88414258(+) AATAAC/AGAGGC 1 -- ut314Minor allele frequency- A:0.00NS EA 416
rs1902846401,2
--88414349(+) GAATCC/TTCTCC 1 -- ut310--------
rs617341281,2
C,F--88414416(+) CTTCAT/CGTTCT 1 -- ut312Minor allele frequency- C:0.13NS WA 190
rs1408984081,2
C--88414543(+) ATCTAC/TGAGGA 1 -- ut310--------
rs1497511561,2
C--88414633(+) GAATGA/TGCTTC 1 -- ut310--------
rs1819316451,2
--88414634(+) AATGTG/TCTTCT 1 -- ut310--------
rs795314751,2
C--88414642(+) TCTTAC/TGCATG 1 -- ut310--------

HapMap Linkage Disequilibrium report for CCER1 (91299399 - 91348953 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for CCER1: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing CCER1
DNA2.0 Custom Variant and Variant Library Synthesis for CCER1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for CCER1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with CCER1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Genome-wide profiling of DNA methylation reveals a class of normally methylated CpG island promoters. (PubMed id 17967063)1, 3 Shen L....Issa J.P. (PLoS Genet. 2007)
  2. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 196477 HGNC: 28373 AceView: MGC26598 Ensembl:ENSG00000197651 euGenes: HUgn196477
ECgene: CCER1 H-InvDB: CCER1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CCER1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for CCER1 gene:
Search GeneIP for patents involving CCER1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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