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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CCER1 Gene

protein-coding   GIFtS: 34
GCID: GC12M091300

Coiled-Coil Glutamate-Rich Protein 1

(Previous name: chromosome 12 open reading frame 12)
(Previous symbol: C12orf12)
  Search for CCER1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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   

Export aliases for CCER1 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CCER1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CCER1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TC90

  • CCER1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CCER1 Protein Expression
    REFSEQ proteins: NP_689851.1  
    ENSEMBL proteins: 
     ENSP00000446773   ENSP00000351727  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q8TC90


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Animal Models:
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CCER1

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)
    miRNA
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    Inhib. RNA
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    Primer
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    Additional mRNA sequence: 

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

    2 DOTS entries:

    DT.92068031  DT.99947917 

    24/29 AceView cDNA sequences (see all 29):

    AA448012 BX114695 BC027600 AW274898 AA393269 NM_152638 BI460452 BC026075 
    AI201143 AA906068 BC024183 BU568040 BG719487 AA758509 AA448156 BI462042 
    BG718351 AI220174 AW173078 BC034491 BI560306 BM564100 AI216880 BG718731 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CCER1 expression in normal human tissues (normalized intensities)      CCER1 embryonic expression: see
    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 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             ganglion/cranial/facial VII   
     
     Spinal Cord (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Eye (Sensory Organs)
             Retina

    See CCER1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCER1

    SOURCE GeneReport for Unigene cluster: Hs.128574
        SABiosciences Custom PCR Arrays for CCER1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCER1

    (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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CCER1 gene from 5/10 species (see all 10)    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
    73.86(n)1
    64.47(a)1
      10 (50.38 cM)5
    667161  NM_025724.21  NP_080000.11 
     976930595 
    lizard
    (Anolis carolinensis)
    Reptilia PELP16
    CCER16
    coiled-coil glutamate-rich protein 1
    7(a)
    17(a)
    possible ortholog
    1 ↔ 1
    GL344863.1(9019-14192)
    GL344366.1(38485-40993)
    zebrafish
    (Danio rerio)
    Actinopterygii CCER16
    coiled-coil glutamate-rich protein 1
    3(a)
    1 ↔ 1
    7(27132788-27151931)
    worm
    (Caenorhabditis elegans)
    Secernentea cec-16
    Chromo domain-containing protein cec-1
    10(a)
    1 ↔ 1
    III(8426340-8428582)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NAB36
    Single stranded RNA binding protein; subunit of Nr...
    4(a)
    1 → many
    XVI(185317-187725)


    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)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/148 SNPs in CCER1 are shown (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: --
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (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)
    About This Section

    PubMed articles for CCER1 gene integrated from 9 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. (2007)
    2. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (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. (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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 196477 HGNC: 28373 AceView: MGC26598 Ensembl:ENSG00000197651 euGenes: HUgn196477
    ECgene: CCER1 H-InvDB: CCER1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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