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

CER1 Gene

protein-coding   GIFtS: 56
GCID: GC09M014710

Cerberus 1, DAN Family BMP Antagonist

(Previous names: cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily),...)
  See related diseases
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
Cerberus 1, DAN Family BMP Antagonist1 2     Cerberus 1, Cysteine Knot Superfamily, Homolog (Xenopus Laevis)1
Cerberus-Related Protein2 3     cerberus2
DAND42 3     Cerberus 1, Cysteine Knot Superfamily, Homolog2
DAN Domain Family Member 42 3     Cerberus-Related 12
Cerberus 1 (Xenopus Laevis) Homolog (Cysteine Knot Superfamily)1     

External Ids:    HGNC: 18621   Entrez Gene: 93502   Ensembl: ENSG000001478697   OMIM: 6037775   UniProtKB: O958133   

Export aliases for CER1 gene to outside databases

Previous GC identifers: GC09M014885 GC09M014701


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

Entrez Gene summary for CER1 Gene:
This gene encodes a cytokine member of the cysteine knot superfamily, characterized by nine conserved cysteines
and a cysteine knot region. The cerberus-related cytokines, together with Dan and DRM/Gremlin, represent a group
of bone morphogenetic protein (BMP) antagonists that can bind directly to BMPs and inhibit their activity.
(provided by RefSeq, Jul 2008)

GeneCards Summary for CER1 Gene: 
CER1 (cerberus 1, DAN family BMP antagonist) is a protein-coding gene. Diseases associated with CER1 include norrie disease, and osteoporotic fracture, and among its related super-pathways are BMP signalling and regulation and MIF Mediated Glucocorticoid Regulation. GO annotations related to this gene include morphogen activity and protein homodimerization activity. An important paralog of this gene is DAND5.

UniProtKB/Swiss-Prot: CER1_HUMAN, O95813
Function: Cytokine that may play a role in anterior neural induction and somite formation during embryogenesis in
part through a BMP-inhibitory mechanism. Can regulate Nodal signaling during gastrulation as well as the
formation and patterning of the primitive streak (By similarity)

Gene Wiki entry for CER1 (Cerberus) 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_000009.11  NC_018920.2  NT_008413.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CER1 gene promoter:
         NF-1   NF-1/L   Tal-1   HNF-3beta   Gfi-1   E47   FOXL1   AREB6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCER1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CER1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CER1


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

Entrez Gene cytogenetic band: 9p23-p22   Ensembl cytogenetic band:  9p22.3   HGNC cytogenetic band: 9p23-p22

CER1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CER1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M014710:  view genomic region     (about GC identifiers)

Start:
14,719,722 bp from pter      End:
14,722,715 bp from pter
Size:
2,994 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: CER1_HUMAN, O95813 (See protein sequence)
Recommended Name: Cerberus precursor  
Size: 267 amino acids; 30084 Da
Subunit: Forms monomers and predominantly dimers (By similarity)
Subcellular location: Secreted (Probable)
Sequence caution: Sequence=AAH69503.1; Type=Erroneous termination; Positions=266; Note=Translated as Ser;
Secondary accessions: Q6ISJ1 Q6ISJ6 Q6ISQ2 Q6ISS1

Explore the universe of human proteins at neXtProt for CER1: NX_O95813

Explore proteomics data for CER1 at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95813

  • CER1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CER1 Protein Expression
    REFSEQ proteins: NP_005445.1  
    ENSEMBL proteins: 
     ENSP00000370297  
    Reactome Protein details: O95813
    Human Recombinant Protein Products for CER1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for CER1
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for CER1
    GenScript Custom Purified and Recombinant Proteins Services for CER1
    Novus Biologicals CER1 Proteins
    Novus Biologicals CER1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space ISS--

    CER1 for ontologies           About GeneDecksing



    CER1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of CER1
    R&D Systems Antibodies for CER1 (Cerberus 1)
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    GenScript Superior Antibodies for CER1
    Novus Biologicals CER1 Antibodies
    Abcam antibodies for CER1
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for CER1
    LSBio Antibodies in human, mouse, rat for CER1 

    Assay Products for CER1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CER1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CER1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR006207 Cys_knot_C
     IPR016860 Cerberus
     IPR004133 DAN

    Graphical View of Domain Structure for InterPro Entry O95813

    ProtoNet protein and cluster: O95813

    UniProtKB/Swiss-Prot: CER1_HUMAN, O95813
    Similarity: Belongs to the DAN family
    Similarity: Contains 1 CTCK (C-terminal cystine knot-like) domain


    CER1 for domains           About GeneDecksing


    (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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CER1_HUMAN, O95813
    Function: Cytokine that may play a role in anterior neural induction and somite formation during embryogenesis in
    part through a BMP-inhibitory mechanism. Can regulate Nodal signaling during gastrulation as well as the
    formation and patterning of the primitive streak (By similarity)

         Genatlas biochemistry entry for CER1:
    cerberus related cytokine 1,potentially involved in anterior neural induction and somite formation during mouse
    development,bone morphogenetic protein antagonist

         Summary:
    During embryonic development, CER1 as signaling molecule is secreted from the following cells: Anterior Visceral Endoderm Cells in Extraembryonic Visceral Endoderm It affects the following cells: Intraembryonic Ectoderm Cells in Ectoderm

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005125cytokine activity IEA--
    GO:0016015morphogen activity IDA9660951
    GO:0036122BMP binding IDA9660951
    GO:0042803protein homodimerization activity ISS--
         
    CER1 for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Cer1):
     behavior/neurological  cardiovascular system  craniofacial  embryogenesis  growth/size 
     limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis  normal 
     skeleton 

    CER1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CER1: Cer1tm1Belo Cer1tm1Dgen

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CER1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CER1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CER1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CER1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CER1
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate CER1:
    hsa-miR-19b-1* hsa-miR-19b-2* hsa-miR-19a* hsa-miR-34a*
    SwitchGear 3'UTR luciferase reporter plasmidCER1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CER1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CER1

    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of CER1

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for CER1 (see all 6)
    OriGene ORF clones in mouse, rat for CER1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CER1 (NM_002001)
    Sino Biological Human cDNA Clone for CER1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CER1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CER1
    Sirion Biotech Customized lentivirus for stable overexpression of CER1 
                         Customized lentivirus expression plasmids for stable overexpression of CER1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CER1
    Search LifeMap BioReagents cell lines for CER1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CER1


    (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

    SuperPaths for CER1 About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Signaling by BMP
    Signaling by BMP0.35
    BMP receptor signaling0.31
    2PEDF Induced Signaling
    MIF Mediated Glucocorticoid Regulation0.94
    RAR-Gamma-RXR-Alpha Degradation0.62
    MIF Regulation of Innate Immune Cells0.94
    IL-6 Pathway0.61
    PEDF Induced Signaling0.73
    STAT3 Pathway0.47
    all-trans-Retinoic Acid Signaling in Brain0.71
    Endothelin-1 Signaling Pathway0.46
    3Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    4Akt Signaling
    Akt Signaling0.60
    p38 Signaling0.60
    5PAK Pathway
    PAK Pathway0.56
    Antioxidant Action of Vitamin-C0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/17 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CER1 (see all 17)
        Endothelin-1 Signaling Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    Rho Family GTPases
    MIF Mediated Glucocorticoid Regulation

    1 BioSystems Pathway for CER1
        BMP receptor signaling

    3 Sino Biological Pathways for CER1 
        Canonical Wnt Pathway
    Non-Canonical Wnt Pathway
    TGF-beta Signaling Pathway

    5        Reactome Pathways for CER1
        Developmental Biology
    Signal Transduction
    Signaling by NODAL
    Regulation of Signaling by NODAL
    Signaling by BMP


    1         Kegg Pathway  (Kegg details for CER1):
        Wnt signaling pathway


    CER1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CER1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/33 Interacting proteins for CER1 (ENSP000003702974) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BMP2ENSP000003681044STRING: ENSP00000368104
    BMP4ENSP000002454514STRING: ENSP00000245451
    BMPR1BENSP000002645684STRING: ENSP00000264568
    BMPR2ENSP000003637084STRING: ENSP00000363708
    GREM2ENSP000003186504STRING: ENSP00000318650
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001657ureteric bud development ISS--
    GO:0003419growth plate cartilage chondrocyte proliferation ISS19113921
    GO:0007369gastrulation ISS10049596
    GO:0007399nervous system development IMP9660951
    GO:0008285negative regulation of cell proliferation ISS10049596

    CER1 for ontologies           About GeneDecksing



    (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

    CER1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CER1

    1 Novoseek inferred chemical compound relationship for CER1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 34.2 4 15254711 (2), 15806314 (1)

    Search CenterWatch for drugs/clinical trials and news about CER1

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 CER1 gene: 
    NM_005454.2  

    Unigene Cluster for CER1:

    Cerberus 1, DAN family BMP antagonist
    Hs.248204  [show with all ESTs]
    Unigene Representative Sequence: NM_005454
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000380911(uc003zlj.3)
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CER1
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate CER1:
    hsa-miR-19b-1* hsa-miR-19b-2* hsa-miR-19a* hsa-miR-34a*
    SwitchGear 3'UTR luciferase reporter plasmidCER1 3' UTR sequence
    Inhib. RNA
    Products:
         
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CER1
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    OriGene ORF clones in mouse, rat for CER1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CER1 (NM_002001)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CER1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CER1
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CER1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CER1

    Additional mRNA sequence: 

    AF400435.1 BC069371.1 BC069405.1 BC069491.1 BC069503.1 BC103976.1 BC103977.1 

    1 DOTS entry:

    DT.100734132 

    13 AceView cDNA sequences:

    AF400435 NM_005454 BU071333 BQ478475 BU557029 BC069405 CD652441 BC069491 
    BC069371 AA866116 BU071563 BC069503 BU071467 

    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

    CER1 expression in normal human tissues (normalized intensities)      CER1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGCTCCCA
    CER1 Expression
    About this image


    CER1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Primitive Streak (Early Embryonic Tissues)    fully expand to see all 7 entries
             Anterior Primitive Streak Cells Anterior Primitive Streak
             Primitive streak-like cells ( Generation of endoderm cells and pancreatic progenitor...
     
     Hypoblast (Extraembryonic Tissues)    fully expand to see all 5 entries
             Visceral Endoderm Cells Visceral Endoderm
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Thalamus
             brain/forebrain/telencephalon   
     
     Yolk Sac (Extraembryonic Tissues)    fully expand to see all 4 entries
             Visceral Endoderm Cells Visceral Endoderm
     
     Pancreas (Endocrine System)    fully expand to see all 4 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud

    See CER1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CER1

    SOURCE GeneReport for Unigene cluster: Hs.248204
        SABiosciences Custom PCR Arrays for CER1
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CER1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CER1

    (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 chordates.

    Orthologs for CER1 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cer11 , 5 cerberus 1 homolog (Xenopus laevis)1, 5 75.91(n)1
    68.54(a)1
      4 (39.40 cM)5
    126221  NM_009887.21  NP_034017.11 
     828817515 
    chicken
    (Gallus gallus)
    Aves CER11 cerberus 1, cysteine knot superfamily, homolog (Xenopus more 58.81(n)
    50.22(a)
      395623  NM_204823.1  NP_990154.1 
    lizard
    (Anolis carolinensis)
    Reptilia CER16
    Uncharacterized protein
    35(a)
    1 ↔ 1
    2(34571527-34574452)
    zebrafish
    (Danio rerio)
    Actinopterygii dand56
    DAN domain family, member 5
    22(a)
    1 → many
    1(52320998-52323243)


    ENSEMBL Gene Tree for CER1 (if available)
    TreeFam Gene Tree for CER1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CER1 gene
    DAND52  

    CER1 for paralogs           About GeneDecksing



    (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

    10/205 SNPs in CER1 are shown (see all 205)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1865916561,2
    --14719302(+) ATTAAC/TATCAC 1 -- ds50010--------
    rs109616821,2
    C,H--14719331(+) AGAGAC/TCTGAC 1 -- ds50014Minor allele frequency- T:0.00NS EA 418
    rs1439872691,2
    C--14719342(+) ATTAAA/GTACTT 1 -- ds50010--------
    rs770590421,2
    C,F--14719488(+) TCCTAC/TAAATA 1 -- ds50011Minor allele frequency- T:0.06WA 118
    rs559083181,2
    C--14719553(+) CCTGCA/CTGCCT 1 -- ds50010--------
    rs117899681,2
    C,H--14719555(+) tgcctG/Tcctgc 1 -- ds50012Minor allele frequency- T:0.25NA 4
    rs108102251,2
    C,A,H--14719559(+) TGCCTT/GCCTTC 1 -- ds50014Minor allele frequency- G:0.00NA CSA 7
    rs284849171,2
    C--14719561(+) CCTGCA/CTTCCT 1 -- ds50010--------
    rs1837137431,2
    --14719589(+) CCTTCC/TTTCCT 1 -- ds50010--------
    rs625343191,2
    F--14719613(+) CCTTCT/CTTCTT 1 -- ds50011Minor allele frequency- C:0.00NA 2

    HapMap Linkage Disequilibrium report for CER1 (14719722 - 14722715 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CER1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv6483CNV Insertion18451855
    nsv831517CNV Loss17160897
    nsv892614CNV Gain21882294


    Human Gene Mutation Database (HGMD): CER1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CER1
    DNA2.0 Custom Variant and Variant Library Synthesis for CER1

    (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
    OMIM gene information: 603777    OMIM disorders: --

    3 diseases for CER1:    About MalaCards
    norrie disease    osteoporotic fracture    lung cancer


    CER1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CER1
    Human Genome Epidemiology (HuGE) Navigator: CER1 (5 documents)

    Export disorders for CER1 gene to outside databases

    (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 CER1 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with CER1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human cerberus related gene CER1 maps to chromosome 9. (PubMed id 10049596)1, 2, 3, 9 Lah M.... Harvey R.P. (1999)
    2. Lung cancer susceptibility model based on age, family history and genetic variants. (PubMed id 19390575)1, 4 Young R.P....Gamble G.D. (2009)
    3. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (2009)
    4. Genome-wide haplotype association mapping in mice identifies a genetic variant in CER1 associated with BMD and fracture in southern Chinese women. (PubMed id 19113921)1, 4 Tang P.L....Song Y.Q. (2009)
    5. A gene-based risk score for lung cancer susceptibilit y in smokers and ex-smokers. (PubMed id 19789190)1, 4 Young R.P....Gamble G.D. (2009)
    6. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
    9. Novel sequence variations in the CER1 gene are strongl y associated with low bone mineral density and risk of osteoporotic fracture in postmenopausal women. (PubMed id 22543871)1 Koromila T....Kollia P. (2012)
    10. Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. (PubMed id 18452192)1 Swinkels M.E....van Ravenswaaij-Arts C.M. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9350 HGNC: 1862 AceView: CER1 Ensembl:ENSG00000147869 euGenes: HUgn9350
    ECgene: CER1 Kegg: 9350 H-InvDB: CER1

    (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 CER1 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 CER1 gene:
    Search GeneIP for patents involving CER1

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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