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] See more...

Aliases for CDR1 Gene

Aliases for CDR1 Gene

  • Cerebellar Degeneration Related Protein 1 2 3 5
  • Cerebellar Degeneration-Related Protein 1, 34kDa 2 3
  • Cerebellar Degeneration-Related Antigen 1 3 4
  • CDR34 3 4
  • Cerebellar Degeneration-Related Protein-1 (34kD) 2
  • Cerebellar Degeneration-Related Protein (34kD) 2
  • CDR62A 3
  • CDR 3

External Ids for CDR1 Gene

Previous HGNC Symbols for CDR1 Gene

  • CDR

Previous GeneCards Identifiers for CDR1 Gene

  • GC0XM134395
  • GC0XM136723
  • GC0XM137810
  • GC0XM138571
  • GC0XM139590
  • GC0XM139692
  • GC0XM139865
  • GC0XM129119

Summaries for CDR1 Gene

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) is a Protein Coding gene. Diseases associated with CDR1 include Cerebellar Degeneration and Paraneoplastic Cerebellar Degeneration.

Gene Wiki entry for CDR1 Gene

Additional gene information for CDR1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDR1 Gene

Genomics for CDR1 Gene

GeneHancer (GH) Regulatory Elements for CDR1 Gene

Promoters and enhancers for CDR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ140710 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas 2.6 +72.8 72778 4.4 EP300 USF1 JUND POLR2A TRIM28 RFX1 BHLHE40 ATF2 MXI1 ZNF341 CDR1 LINC00632 lnc-SPANXB1-7 lnc-CDR1-3
GH0XJ140820 Enhancer 0.3 ENCODE 12.4 -36.9 -36907 1.1 TBP NANOG CDR1 piR-39701-075 lnc-SPANXB1-6
GH0XJ140824 Enhancer 0.2 Ensembl 12.4 -38.9 -38943 0.2 CDR1 piR-39701-075 lnc-SPANXB1-6
GH0XJ140763 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 0.4 +19.1 19137 3.6 CTCF RAD21 TRIM22 ZNF341 POLR2A MYC SMC3 SP2 ZBTB17 ZNF263 LINC00632 RF00017-8772 lnc-SPANXB1-6 CDR1
GH0XJ140815 Enhancer 0.3 Ensembl 0.3 -31.5 -31543 0.2 MYC CDR1 piR-39701-075 lnc-SPANXB1-6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDR1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDR1

Top Transcription factor binding sites by QIAGEN in the CDR1 gene promoter:
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4

Genomic Locations for CDR1 Gene

Genomic Locations for CDR1 Gene
chrX:140,783,260-140,784,558
(GRCh38/hg38)
Size:
1,299 bases
Orientation:
Minus strand
chrX:139,865,425-139,866,723
(GRCh37/hg19)
Size:
1,299 bases
Orientation:
Minus strand

Genomic View for CDR1 Gene

Genes around CDR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDR1 Gene

Proteins for CDR1 Gene

  • Protein details for CDR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51861-CDR1_HUMAN
    Recommended name:
    Cerebellar degeneration-related antigen 1
    Protein Accession:
    P51861
    Secondary Accessions:
    • Q5JXH6

    Protein attributes for CDR1 Gene

    Size:
    262 amino acids
    Molecular mass:
    31279 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Autoantibodies against CDR1 are found in patients with paraneoplastic cerebellar degeneration.
    SequenceCaution:
    • Sequence=AAA51962.1; Type=Miscellaneous discrepancy; Note=Frameshifts in positions 134, 176.; Evidence={ECO:0000305}; Sequence=AAA52472.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for CDR1 Gene

Post-translational modifications for CDR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CDR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CDR1 Gene

Domains & Families for CDR1 Gene

Gene Families for CDR1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CDR1 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for CDR1 Gene

GenScript: Design optimal peptide antigens:
  • CDR34 (CDR1_HUMAN)
genes like me logo Genes that share domains with CDR1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CDR1 Gene

Function for CDR1 Gene

Molecular function for CDR1 Gene

GENATLAS Biochemistry:
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

Phenotypes From GWAS Catalog for CDR1 Gene

Gene Ontology (GO) - Molecular Function for CDR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CDR1: view
genes like me logo Genes that share phenotypes with CDR1: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CDR1 Gene

Localization for CDR1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDR1 gene
Compartment Confidence
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CDR1 Gene

Pathways & Interactions for CDR1 Gene

PathCards logo

SuperPathways for CDR1 Gene

No Data Available

Interacting Proteins for CDR1 Gene

;

Gene Ontology (GO) - Biological Process for CDR1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CDR1 Gene

Drugs & Compounds for CDR1 Gene

(2) Drugs for CDR1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for CDR1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CDR1: view

Transcripts for CDR1 Gene

mRNA/cDNA for CDR1 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDR1 Gene

No ASD Table

Relevant External Links for CDR1 Gene

GeneLoc Exon Structure for
CDR1

Expression for CDR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDR1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x11.5), Brain - Cerebellum (x9.5), Brain - Putamen (basal ganglia) (x7.8), and Brain - Caudate (basal ganglia) (x4.9).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDR1

SOURCE GeneReport for Unigene cluster for CDR1 Gene:

Hs.446675

mRNA Expression by UniProt/SwissProt for CDR1 Gene:

P51861-CDR1_HUMAN
Tissue specificity: Brain; predominantly expressed in normal neuroectodermal tissues and in certain malignant tumors.

Evidence on tissue expression from TISSUES for CDR1 Gene

  • Nervous system(4.2)
  • Spleen(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CDR1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • nervous
Regions:
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with CDR1: view

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for CDR1 Gene

Orthologs for CDR1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CDR1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia CDR1 30
  • 80.59 (n)
mouse
(Mus musculus)
Mammalia Cdr1 31
  • 17 (a)
OneToOne
Species where no ortholog for CDR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CDR1 Gene

ENSEMBL:
Gene Tree for CDR1 (if available)
TreeFam:
Gene Tree for CDR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDR1: view image

Paralogs for CDR1 Gene

No data available for Paralogs for CDR1 Gene

Variants for CDR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDR1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
789465 Benign: not provided 140,783,697(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CDR1 Gene

Variation tolerance for CDR1 Gene

Residual Variation Intolerance Score: 26.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.32; 26.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CDR1 Gene

Disorders for CDR1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for CDR1 Gene - From: LncRNADisease, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CDR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CDR1

genes like me logo Genes that share disorders with CDR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDR1 Gene

Publications for CDR1 Gene

  1. Cerebellar degeneration-related antigen: a highly conserved neuroectodermal marker mapped to chromosomes X in human and mouse. (PMID: 2326268) Chen YT … Old LJ (Proceedings of the National Academy of Sciences of the United States of America 1990) 2 3 4 54
  2. Physical and genetic mapping of the CDR gene with particular reference to its position with respect to the FRAXA site. (PMID: 1708201) Siniscalco M … Old LJ (American journal of medical genetics 1991) 3 23 54
  3. Cloning of a brain protein identified by autoantibodies from a patient with paraneoplastic cerebellar degeneration. (PMID: 3474619) Dropcho EJ … Old LJ (Proceedings of the National Academy of Sciences of the United States of America 1987) 3 4 54
  4. CDR1as is overexpressed in laryngeal squamous cell carcinoma to promote the tumour's progression via miR-7 signals. (PMID: 30182381) Zhang J … Zhao Y (Cell proliferation 2018) 3 54
  5. Dysregulated miR-671-5p / CDR1-AS / CDR1 / VSNL1 axis is involved in glioblastoma multiforme. (PMID: 26683098) Barbagallo D … Purrello M (Oncotarget 2016) 3 54

Products for CDR1 Gene

Sources for CDR1 Gene