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Aliases for CDRT1 Gene

Aliases for CDRT1 Gene

  • CMT1A Duplicated Region Transcript 1 2 3 5
  • F-Box And WD Repeat Domain Containing 10 Pseudogene 1 2 3
  • F-Box And WD-40 Domain Protein 10 Pseudogene 1 2 3
  • HREP 3 4
  • Charcot-Marie-Tooth Duplicated Region Transcript 1 3
  • CMT1A Duplicated Region Transcript 1 Protein 3
  • C17ORF1A 3
  • FBXW10P1 3
  • C17orf1A 4
  • C170RF1 3
  • C17ORF1 3
  • FBXW10B 3
  • C17orf1 4
  • SM25H2 3

External Ids for CDRT1 Gene

Previous HGNC Symbols for CDRT1 Gene

  • FBXW10P1

Previous GeneCards Identifiers for CDRT1 Gene

  • GC17U990245
  • GC17M015692
  • GC17M015432
  • GC17M015370
  • GC17M015476
  • GC17M015470

Summaries for CDRT1 Gene

Entrez Gene Summary for CDRT1 Gene

  • Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

GeneCards Summary for CDRT1 Gene

CDRT1 (CMT1A Duplicated Region Transcript 1) is a Protein Coding gene. Diseases associated with CDRT1 include Hereditary Neuropathies and Charcot-Marie-Tooth Disease. An important paralog of this gene is FBXW10.

Additional gene information for CDRT1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDRT1 Gene

Genomics for CDRT1 Gene

GeneHancer (GH) Regulatory Elements for CDRT1 Gene

Promoters and enhancers for CDRT1 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
GH17J015619 Promoter 1 EPDnew Ensembl 650.7 +0.0 3 0.2 CDRT1 GC17M015618 ENSG00000223544 ENSG00000251537
GH17J015628 Promoter/Enhancer 0.7 EPDnew dbSUPER 650.4 -9.3 -9266 0.1 CDRT1 GC17M015618 ENSG00000251537 TRIM16
GH17J015648 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 7.6 -30.8 -30796 4.7 PKNOX1 ATF1 SIN3A BRCA1 ELK1 ATF7 FOS DEK ZC3H11A REST ENSG00000251537 ENSG00000266261 TRIM16 ENSG00000266538 PIGL NCOR1 LOC644422 TVP23C PPIAP53 CDRT4
GH17J016377 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 5.5 -760.4 -760397 4.6 ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC PPARGC1A UBB ENSG00000266538 PIGL PPIAP53 NCOR1 TVP23C LOC644422 LRRC75A-AS1 FLCN ACTG1P24
GH17J016414 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 5.2 -798.3 -798285 6.3 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B IRF4 POLR2B ZNF766 ZNF207 TRPV2 ENSG00000264739 ZSWIM7 NCOR1 FLCN ADORA2B CENPV PIGL CDRT1 ENSG00000239203
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CDRT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CDRT1 gene promoter:

Genomic Locations for CDRT1 Gene

Genomic Locations for CDRT1 Gene
chr17:15,565,482-15,619,704
(GRCh38/hg38)
Size:
54,223 bases
Orientation:
Minus strand
chr17:15,468,798-15,523,018
(GRCh37/hg19)

Genomic View for CDRT1 Gene

Genes around CDRT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDRT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDRT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDRT1 Gene

Proteins for CDRT1 Gene

  • Protein details for CDRT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95170-CDRT1_HUMAN
    Recommended name:
    CMT1A duplicated region transcript 1 protein
    Protein Accession:
    O95170
    Secondary Accessions:
    • O43848
    • O95611

    Protein attributes for CDRT1 Gene

    Size:
    752 amino acids
    Molecular mass:
    85370 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • CDRT1 gene is located centromeric to and partially within proximal CMT1A-REP element. CMT1A-REP is a complex binary repeat element flanking a 1.5-Mb DNA region duplicated in Charcot-Marie-Tooth disease type I (CMT1A) or deleted in Hereditary neuropathy (HNPP).
    SequenceCaution:
    • Sequence=AAD10830.1; Type=Frameshift; Positions=165; Evidence={ECO:0000305};

    Alternative splice isoforms for CDRT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDRT1 Gene

Post-translational modifications for CDRT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CDRT1 Gene

Domains & Families for CDRT1 Gene

Gene Families for CDRT1 Gene

Suggested Antigen Peptide Sequences for CDRT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CDRT1: view

No data available for UniProtKB/Swiss-Prot for CDRT1 Gene

Function for CDRT1 Gene

Molecular function for CDRT1 Gene

GENATLAS Biochemistry:
cadherin-related tumor 1

Gene Ontology (GO) - Molecular Function for CDRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with CDRT1: view
genes like me logo Genes that share phenotypes with CDRT1: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CDRT1 Gene

Localization for CDRT1 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 CDRT1 gene
Compartment Confidence
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with CDRT1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CDRT1 Gene

Pathways & Interactions for CDRT1 Gene

SuperPathways for CDRT1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CDRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with CDRT1: view

No data available for Pathways by source and SIGNOR curated interactions for CDRT1 Gene

Drugs & Compounds for CDRT1 Gene

No Compound Related Data Available

Transcripts for CDRT1 Gene

mRNA/cDNA for CDRT1 Gene

(15) Selected AceView cDNA sequences:
(5) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CDRT1 Gene

CMT1A duplicated region transcript 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDRT1 Gene

No ASD Table

Relevant External Links for CDRT1 Gene

GeneLoc Exon Structure for
CDRT1
ECgene alternative splicing isoforms for
CDRT1

Expression for CDRT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CDRT1 Gene

mRNA differential expression in normal tissues according to GTEx for CDRT1 Gene

This gene is overexpressed in Esophagus - Mucosa (x7.0) and Testis (x6.6).

NURSA nuclear receptor signaling pathways regulating expression of CDRT1 Gene:

CDRT1

SOURCE GeneReport for Unigene cluster for CDRT1 Gene:

Hs.548021

mRNA Expression by UniProt/SwissProt for CDRT1 Gene:

O95170-CDRT1_HUMAN
Tissue specificity: Expressed in pancreas, heart and skeletal muscle.
genes like me logo Genes that share expression patterns with CDRT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDRT1 Gene

Orthologs for CDRT1 Gene

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

Orthologs for CDRT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CDRT1 34 33
  • 99.07 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 35 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 31 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 23 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 27 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii fbxw10 34
  • 22 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP46 34
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2090 34
  • 6 (a)
OneToMany
Species where no ortholog for CDRT1 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for CDRT1 Gene

ENSEMBL:
Gene Tree for CDRT1 (if available)
TreeFam:
Gene Tree for CDRT1 (if available)

Paralogs for CDRT1 Gene

Paralogs for CDRT1 Gene

(2) SIMAP similar genes for CDRT1 Gene using alignment to 7 proteins:

  • CDRT1_HUMAN
  • I3L073_HUMAN
  • J3KTF7_HUMAN
  • J3QLS4_HUMAN
  • K7ER72_HUMAN
  • L0R4W0_HUMAN
  • Q9BXD7_HUMAN
genes like me logo Genes that share paralogs with CDRT1: view

Variants for CDRT1 Gene

Sequence variations from dbSNP and Humsavar for CDRT1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000144729 -- 15,607,261(-) G/A intron_variant
rs1000146975 -- 15,597,557(-) C/T intron_variant
rs1000263577 -- 15,589,324(-) GG/G intron_variant
rs1000433095 -- 15,607,627(-) C/T coding_sequence_variant, missense_variant
rs1000501405 -- 15,583,725(-) C/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CDRT1 Gene

Variant ID Type Subtype PubMed ID
dgv890e212 CNV loss 25503493
esv3554194 CNV deletion 23714750
esv3582544 CNV loss 25503493
esv3640070 CNV loss 21293372
esv3640071 CNV gain 21293372
esv3892964 CNV gain 25118596
nsv1067123 CNV loss 25217958
nsv457695 CNV gain 19166990
nsv574462 CNV gain 21841781
nsv954542 CNV deletion 24416366
nsv960418 CNV duplication 23825009
nsv960419 CNV duplication 23825009
nsv960420 CNV duplication 23825009

Variation tolerance for CDRT1 Gene

Residual Variation Intolerance Score: 98.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.69; 96.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDRT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDRT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDRT1 Gene

Disorders for CDRT1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CDRT1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hereditary neuropathies
  • neuropathy - hereditary
charcot-marie-tooth disease
  • charcot marie tooth muscular atrophy
- elite association - COSMIC cancer census association via MalaCards
Search CDRT1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CDRT1

genes like me logo Genes that share disorders with CDRT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDRT1 Gene

Publications for CDRT1 Gene

  1. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. (PMID: 11381029) Inoue K … Birren B (Genome research 2001) 2 3 4 58
  2. Genomic structure and physical mapping of C17orf1: a gene associated with the proximal element of the CMT1A-REP binary repeat. (PMID: 9787083) Kennerson ML … Nicholson GA (Genomics 1998) 2 3 4 58
  3. The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene. (PMID: 9403059) Kennerson ML … Nicholson GA (Genomics 1997) 3 4 58
  4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 58

Products for CDRT1 Gene

Sources for CDRT1 Gene

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