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

CDR1 Gene

protein-coding   GIFtS: 44
GCID: GC0XM139865

Cerebellar Degeneration-Related Protein 1, 34kDa

(Previous name: cerebellar degeneration-related protein (34kD))
(Previous symbol: CDR)
Alzheimer's & Parkinson's Diseases Congress
  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
Cerebellar Degeneration-Related Protein 1, 34kDa1 2     Cerebellar Degeneration-Related Protein (34kD)1
CDR1 2     Cerebellar Degeneration-Related Protein-1 (34kD)1
CDR342 3     Cerebellar Degeneration-Related Antigen 12
CDR62A2 5     

External Ids:    HGNC: 17981   Entrez Gene: 10382   Ensembl: ENSG000001842587   OMIM: 3026505   UniProtKB: P518613   

Export aliases for CDR1 gene to outside databases

Previous GC identifers: GC0XM134395 GC0XM136723 GC0XM137810 GC0XM138571 GC0XM139590 GC0XM139692 GC0XM129119


(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 CDR1 Gene:
Autoantibodies directed against the protein encoded by this intronless gene have been found in some patients with
paraneoplastic cerebellar degeneration. The encoded protein contains several hexapeptide repeats. (provided by
RefSeq, Jan 2010)

GeneCards Summary for CDR1 Gene: 
CDR1 (cerebellar degeneration-related protein 1, 34kDa) is a protein-coding gene. Diseases associated with CDR1 include paraneoplastic neurologic disorders, and cerebellar degeneration.

Gene Wiki entry for CDR1 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_000023.10  NC_018934.2  NT_011786.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CDR1 gene promoter:
         NF-AT4   NF-AT2   NF-AT3   NF-AT   NF-AT1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CDR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CDR1


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

Entrez Gene cytogenetic band: Xq27.1   Ensembl cytogenetic band:  Xq27.1   HGNC cytogenetic band: Xq27.1

CDR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDR1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM139865:  view genomic region     (about GC identifiers)

Start:
139,865,425 bp from pter      End:
139,866,723 bp from pter
Size:
1,299 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: CDR1_HUMAN, P51861 (See protein sequence)
Recommended Name: Cerebellar degeneration-related antigen 1  
Size: 262 amino acids; 31279 Da
Miscellaneous: Autoantibodies against CDR1 are found in patients with paraneoplastic cerebellar degeneration
Sequence caution: Sequence=AAA51962.1; Type=Miscellaneous discrepancy; Note=Frameshifts in positions 134, 176;
Sequence=AAA52472.1; Type=Frameshift; Positions=134, 176;
Secondary accessions: Q5JXH6

Explore the universe of human proteins at neXtProt for CDR1: NX_P51861

Explore proteomics data for CDR1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P51861

  • CDR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CDR1 Protein Expression
    REFSEQ proteins: NP_004056.2  
    ENSEMBL proteins: 
     ENSP00000359563  

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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: P51861


    (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:
         Genatlas biochemistry entry for CDR1:
    cerebellar degeneration-related minor antigen,34kDa,putative neuronal signal transduction protein,identified using
    antisera Yo from patients with breast and ovarian cancers and a paraneoplastic neurologic disorder

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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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CDR1

    (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

    CDR1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CDR1

    5 Novoseek inferred chemical compound relationships for CDR1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyrrole 70.8 1 9210670 (1)
    fluconazole 68.4 2 9767132 (1), 12019078 (1)
    anti-fungal 44.3 2 10952571 (1)
    oligonucleotide 26.1 1 8099917 (1)
    atp 25.3 2 9767132 (1), 10952571 (1)

    Search CenterWatch for drugs/clinical trials and news about CDR1

    (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,
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    About This Section

    REFSEQ mRNAs for CDR1 gene: 
    NM_004065.2  

    Unigene Cluster for CDR1:

    Cerebellar degeneration-related protein 1, 34kDa
    Hs.446675  [show with all ESTs]
    Unigene Representative Sequence: NM_004065
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000370532(uc004fbg.1)

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    Inhib. RNA
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    Clone
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    Additional mRNA sequence: 

    BC113472.1 BC113474.1 M16965.1 

    11 DOTS entries:

    DT.95090928  DT.95231414  DT.95203061  DT.97866800  DT.100774434  DT.121320635  DT.95135866  DT.312181 
    DT.91762157  DT.95090936  DT.95327888 

    2 AceView cDNA sequences:

    NM_004065 M16965 

    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

    CDR1 expression in normal human tissues (normalized intensities)      CDR1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTGTCTGG
    CDR1 Expression
    About this image


    CDR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Brain (Nervous System)
             Cerebellum

    See CDR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CDR1

    SOURCE GeneReport for Unigene cluster: Hs.446675

    UniProtKB/Swiss-Prot: CDR1_HUMAN, P51861
    Tissue specificity: Brain; predominantly expressed in normal neuroectodermal tissues and in certain malignant
    tumors

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDR1

    (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 human and mouse.

    Orthologs for CDR1 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdr15 cerebellar degeneration related antigen 1   --   X (34.33 cM) 61183246 


    ENSEMBL Gene Tree for CDR1 (if available)
    TreeFam Gene Tree for CDR1 (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

    10/82 SNPs in CDR1 are shown (see all 82)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1876571661,2
    --139822517(+) ATATCC/TTCAAT 1 -- ds50010--------
    rs1919241611,2
    --139822603(+) TTAAAA/GTTTAA 1 -- ds50010--------
    rs66361161,2
    C,F,H--139822752(+) CCAAGA/GTACAG 1 -- ds5001 ese323Minor allele frequency- N:0.00NS EA NA 2304
    rs1837116761,2
    --139822782(+) TTCCAC/GAGATT 1 -- ds50010--------
    rs1881855721,2
    --139822817(+) CAATAA/TCCCAA 1 -- ds50010--------
    rs1918494891,2
    --139822870(+) GTCTTC/TAAAAT 1 -- ds50010--------
    rs735765361,2
    C,F--139822917(+) AATGTC/TTCCAA 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs1501789801,2
    C--139823238(+) CATCAA/CATACA 1 -- ut310--------
    rs1469183181,2
    F--139823351(+) TCAATC/TAGTGT 2 L syn11Minor allele frequency- T:0.00NA 4496
    rs2004079721,2
    --139823407(+) GAAAGA/CAATCC 2 A S mis10--------

    HapMap Linkage Disequilibrium report for CDR1 (139865425 - 139866723 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CDR1: --

    Human Gene Mutation Database (HGMD): CDR1

    Locus Specific Mutation Databases (LSDB): CDR1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CDR1
    DNA2.0 Custom Variant and Variant Library Synthesis for CDR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 302650    OMIM disorders: --

    7 diseases for CDR1:    About MalaCards
    paraneoplastic neurologic disorders    cerebellar degeneration    paraneoplastic cerebellar degeneration    blue cone monochromacy
    candidiasis    ovarian cancer    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for CDR1:
    Lupus erythematosus     Connective tissue disease     Alzheimer's disease

    CDR1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    1 Novoseek inferred disease relationship for CDR1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    immunodeficiency 25 1 9210670 (1)

    Genetic Association Database (GAD): CDR1

    Export disorders for CDR1 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 CDR1 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with CDR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cerebellar degeneration-related antigen: a highly conserved neuroectodermal marker mapped to chromosomes X in human and mouse. (PubMed id 2326268)1, 2, 3 Chen Y.-T.... Old L.J. (1990)
    2. Cloning of a brain protein identified by autoantibodies from a patient with paraneoplastic cerebellar degeneration. (PubMed id 3474619)1, 2 Dropcho E.J.... Old L.J. (1987)
    3. Physical and genetic mapping of the CDR gene with particular reference to its position with respect to the FRAXA site. (PubMed id 1708201)1, 9 Siniscalco M....Old L.J. (1991)
    4. The tolerogenic peptide, hCDR1, down-regulates the exp ression of interferon-a in murine and human systemic lupus erythematosus. (PubMed id 23555966)1 Sthoeger Z....Mozes E. (2013)
    5. miRNA-dependent gene silencing involving Ago2-mediate d cleavage of a circular antisense RNA. (PubMed id 21964070)1 Hansen T.B....Kjems J. (2011)
    6. Overexpression of CDR1 and CDR2 genes plays an import ant role in fluconazole resistance in Candida albicans with G487T and T916C mut ations. (PubMed id 20515567)1 Chen L.M....Wang R. (2010)
    7. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)
    8. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (2007)
    9. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 1038 HGNC: 1798 AceView: CDR1 Ensembl:ENSG00000184258 euGenes: HUgn1038
    ECgene: CDR1 H-InvDB: CDR1

    (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 CDR1 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 CDR1 gene:
    Search GeneIP for patents involving CDR1

    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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