CDRT1 Gene
protein-coding GIFtS: 40
GCID: GC17M015470
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|
CMT1A duplicated region transcript 1(Previous names: F-box and WD repeat domain containing 10 pseudogene 1,...)
(Previous symbol: FBXW10P1)
| |
Aliases
for CDRT1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| CMT1A Duplicated Region Transcript 11 2 | | C170RF12 | | HREP1 2 3 | | C17ORF12 | | FBXW10B1 2 | | C17ORF1A2 | | FBXW10P11 2 | | Charcot-Marie-Tooth Duplicated Region Transcript 12 | | SM25H21 2 | | CMT1A Duplicated Region Transcript 1 Protein2 | | F-Box And WD Repeat Domain Containing 10 Pseudogene 11 2 | | C17orf13 | | F-Box And WD-40 Domain Protein 10 Pseudogene 11 2 | | C17orf1A3 |
Export aliases for CDRT1 gene to outside databasesPrevious GC identifers: GC17U990245 GC17M015692 GC17M015432 GC17M015370 GC17M015476 |
Summaries
for CDRT1 gene(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 CDRT1:
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 asprotein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitinationtargets through other protein interaction domains (Jin et al., 2004 (PubMed 15520277)).(supplied by OMIM, Mar 2008)
|
Genomic Views
for CDRT1 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010718.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CDRT1 gene promoter:
Max1 NF-1/L NF-1 AP-4 PPAR-gamma1 c-Rel CP2 IRF-7A c-Myc ATF6
Other transcription factors
Search SABiosciences Chromatin IP Primers for CDRT1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CDRT1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17p12 Ensembl cytogenetic band: 17p12 HGNC cytogenetic band: 17p11CDRT1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17M015470: view genomic region
(about GC identifiers)
Start:
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15,468,798 bp from pter |
End:
|
15,523,018 bp from pter |
Size:
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54,221 bases |
Orientation:
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minus strand |
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Proteins
for CDRT1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CDRT1_HUMAN, O95170 (See
protein sequence)Recommended Name: CMT1A duplicated region transcript 1 protein Size: 752 amino acids; 85370 Da
Miscellaneous: CDRT1 gene is located centromeric to and partially within proximal CMT1A-REP element. CMT1A-REP is acomplex binary repeat element flanking a 1.5-Mb DNA region duplicated in Charcot-Marie-Tooth disease type I (CMT1A) ordeleted in Hereditary neuropathy (HNPP)
Sequence caution: Sequence=AAD10830.1; Type=Frameshift; Positions=165;
Secondary accessions: O43848 O95611Alternative splicing: 2 isoforms: O95170-1 O95170-2 Explore the universe of human proteins at neXtProt for CDRT1: NX_O95170
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O95170
CDRT1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_006373.2
ENSEMBL proteins: ENSP00000468137 ENSP00000346416 ENSP00000379242 ENSP00000462959 ENSP00000463684 ENSP00000261644
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005575 | cellular_component |
ND | -- |
CDRT1 for ontologies About GeneDecksing
CDRT1 Antibody Products:
Assay Products for CDRT1: |
Protein
Domains /
Families
for CDRT1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CDRT1 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry O95170ProtoNet protein and cluster: O95170 UniProtKB/Swiss-Prot: CDRT1_HUMAN, O95170Similarity: Contains 7 WD repeats |
Function
for CDRT1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
Genatlas biochemistry entry for CDRT1:cadherin-related tumor 1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CDRT1
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CDRT1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for CDRT1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CDRT1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDRT1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- |
CDRT1 for ontologies About GeneDecksing
|
Pathways & Interactions
for CDRT1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CDRT1
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008150 | biological_process |
ND | -- |
CDRT1 for ontologies About GeneDecksing
|
Drugs & Compounds
for CDRT1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for CDRT1
Search CenterWatch for drugs/clinical trials and news about CDRT1
|
Transcripts
for CDRT1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CDRT1 gene: NM_006382.3 Unigene Clusters for CDRT1: CMT1A duplicated region transcript 1 Hs.548021 [show with all ESTs], Hs.632233 [show with all ESTs]Unigene Representative Sequences: AF337810, NM_0063827 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000472534 ENST00000354433(uc010vvy.2 uc010vvz.2 uc010cos.1)
ENST00000395906(uc002gov.4 uc002gou.2) ENST00000583965 ENST00000571263
ENST00000475944 ENST00000261644
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CDRT1
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CDRT1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for CDRT1 | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CDRT1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CDRT1 |
Additional cDNA sequence: BC143291.1 BC171723.1 U43383.1 U65652.1 4 DOTS entries: DT.40127954 DT.95313553 DT.40122744 DT.100689099 13 AceView cDNA sequences: CB989113 BM712658 AK057407 CF994774 U65652 AW891009 U43383 NM_006382 BF327447 BI461612 BG721464 CF593769 AW062475
GeneLoc Exon Structure
|
Expression
for CDRT1 gene
(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
| CDRT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See CDRT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CDRT1
SOURCE GeneReport for Unigene clusters: Hs.548021 Hs.632233
UniProtKB/Swiss-Prot: CDRT1_HUMAN, O95170Tissue specificity: Expressed in pancreas, heart and skeletal muscle
SABiosciences Custom PCR Arrays for CDRT1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CDRT1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat CDRT1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CDRT1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CDRT1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDRT1 |
Orthologs
for CDRT1 gene
(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 CDRT1 gene from 3/13 species (see all 13) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
-- |
Uncharacterized protein |
26(a) |
1 → many |
18(2194666-2204960) |
lizard
(Anolis carolinensis) |
Reptilia |
-- |
-- |
29(a) |
1 → many |
2(106145494-106169139) |
zebrafish
(Danio rerio) |
Actinopterygii |
CR752650.16 |
-- |
24(a) |
1 → many |
12(37125613-37134954) |
ENSEMBL Gene Tree for CDRT1 (if available)
TreeFam Gene Tree for CDRT1 (if available) |
Paralogs
for CDRT1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CDRT1 gene
- ENSG000002515372 ENSG000001814642 FBXW102
2 SIMAP similar genes for CDRT1 using alignment to 7 protein entries: CDRT1_HUMAN (see all proteins):FBXW10 FBXW7
CDRT1 for paralogs About GeneDecksing
|
Genomic Variants
for CDRT1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CDRT1 (15468798 - 15523018 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CDRT1: -- | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for CDRT1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CDRT1 for disorders About GeneDecksing
OMIM gene information: 604596
OMIM disorders: --
4  diseases for CDRT1: About MalaCardscharcot-marie-tooth disease tooth disease hereditary neuropathies neuropathy
Export disorders for CDRT1 gene to outside databases
|
Publications
for CDRT1 gene (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 CDRT1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with CDRT1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (PubMed id 11381029)1, 2, 3 Inoue K.... Birren B. (2001)
- Genomic structure and physical mapping of C17orf1: a gene associated with the proximal element of the CMT1A-REP binary repeat. (PubMed id 9787083)1, 2, 3 Kennerson M.L.... Nicholson G.A. (1998)
- The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene. (PubMed id 9403059)1, 2 Kennerson M.L....Nicholson G.A. (1997)
- DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
- Systematic analysis and nomenclature of mammalian F-box proteins. (PubMed id 15520277)1 Jin J....Harper J.W. (2004)
- 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)
- Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)
- Single test for two hereditary neuropathies, CMT1A an d HNPP. (PubMed id 7586531)1 Kennerson M.L....Nicholson G.A. (1995)
|
External Searches for CDRT1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CDRT1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CDRT1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CDRT1 gene(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
|
| Name | Description |
| PharmGKB entry for CDRT1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for CDRT1 gene:
Search GeneIP for patents involving CDRT1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CDRT1 gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CDRT1 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CDRT1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CDRT1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CDRT1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CDRT1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CDRT1 |
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 | | | CDRT1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDRT1 |
|  |  |  | | | | ThermoFisher Antibodies for CDRT1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CDRT1 |
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