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Aliases for RCBTB1 Gene

Aliases for RCBTB1 Gene

  • RCC1 And BTB Domain Containing Protein 1 2 3 5
  • Regulator Of Chromosome Condensation (RCC1) And BTB (POZ) Domain Containing Protein 1 2 3
  • Regulator Of Chromosome Condensation And BTB Domain-Containing Protein 1 3 4
  • Chronic Lymphocytic Leukemia Deletion Region Gene 7 Protein 3 4
  • CLL Deletion Region Gene 7 Protein 3 4
  • CLLD7 3 4
  • GDP/GTP Exchange Factor (GEF)-Like Protein 3
  • RCC1 And BTB Domain-Containing Protein 1 3
  • CLLL7 3
  • RDEOA 3
  • E4.5 4
  • GLP 3

External Ids for RCBTB1 Gene

Previous GeneCards Identifiers for RCBTB1 Gene

  • GC13M049042
  • GC13M047904
  • GC13M049004
  • GC13M050106
  • GC13M030899

Summaries for RCBTB1 Gene

Entrez Gene Summary for RCBTB1 Gene

  • This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008]

GeneCards Summary for RCBTB1 Gene

RCBTB1 (RCC1 And BTB Domain Containing Protein 1) is a Protein Coding gene. Diseases associated with RCBTB1 include Alcohol Dependence and Coats Disease. An important paralog of this gene is RCBTB2.

UniProtKB/Swiss-Prot for RCBTB1 Gene

  • May be involved in cell cycle regulation by chromatin remodeling.

Gene Wiki entry for RCBTB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RCBTB1 Gene

Genomics for RCBTB1 Gene

Regulatory Elements for RCBTB1 Gene

Enhancers for RCBTB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13F049619 0.7 ENCODE 25.1 -34.3 -34259 1.7 MTA2 ZNF407 MAX MAFG SP1 ZNF121 FOSL1 EGR1 POLR2A NFE2 RCBTB1 ARL11 EBPL KPNA3 ENSG00000176882 GC13P049618
GH13F049584 0.2 ENCODE 25 -0.8 -824 3.6 PKNOX1 ARNT MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 ZNF207 RCBTB1 GC13P049617
GH13F049606 0.6 Ensembl ENCODE 24.4 -21.9 -21895 1.8 SOX13 CTCF SAP130 ARID4B MAX ZNF2 RAD21 YY1 POLR2A ZNF366 RCBTB1 ARL11 PHF11 EBPL GC13P049617
GH13F049608 0.6 Ensembl 24.3 -23.3 -23295 0.6 SPI1 RCBTB1 PHF11 EBPL GC13P049617
GH13F049615 0.7 Ensembl ENCODE 19.1 -30.7 -30689 1.8 CTCF GATA3 GATA2 PBX2 FEZF1 REST PRDM1 ZNF7 RCBTB1 EBPL KPNA3 GC13P049617
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RCBTB1 on UCSC Golden Path with GeneCards custom track

Promoters for RCBTB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000516107 306 2201 ARID4B SIN3A FEZF1 DMAP1 ZNF48 ZNF2 GLIS2 ZNF207 FOS ZNF263

Genomic Location for RCBTB1 Gene

Chromosome:
13
Start:
49,531,944 bp from pter
End:
49,585,606 bp from pter
Size:
53,663 bases
Orientation:
Minus strand

Genomic View for RCBTB1 Gene

Genes around RCBTB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RCBTB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RCBTB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RCBTB1 Gene

Proteins for RCBTB1 Gene

  • Protein details for RCBTB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NDN9-RCBT1_HUMAN
    Recommended name:
    RCC1 and BTB domain-containing protein 1
    Protein Accession:
    Q8NDN9
    Secondary Accessions:
    • Q8IY29
    • Q969U9

    Protein attributes for RCBTB1 Gene

    Size:
    531 amino acids
    Molecular mass:
    58252 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RCBTB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RCBTB1 Gene

Post-translational modifications for RCBTB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RCBTB1 Gene

No data available for DME Specific Peptides for RCBTB1 Gene

Domains & Families for RCBTB1 Gene

Gene Families for RCBTB1 Gene

Protein Domains for RCBTB1 Gene

Suggested Antigen Peptide Sequences for RCBTB1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NDN9

UniProtKB/Swiss-Prot:

RCBT1_HUMAN :
  • Contains 2 BTB (POZ) domains.
  • Contains 6 RCC1 repeats.
Domain:
  • Contains 2 BTB (POZ) domains.
Similarity:
  • Contains 6 RCC1 repeats.
genes like me logo Genes that share domains with RCBTB1: view

Function for RCBTB1 Gene

Molecular function for RCBTB1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in cell cycle regulation by chromatin remodeling.
genes like me logo Genes that share phenotypes with RCBTB1: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RCBTB1 Gene

Localization for RCBTB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RCBTB1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RCBTB1 Gene COMPARTMENTS Subcellular localization image for RCBTB1 gene
Compartment Confidence
nucleus 5
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for RCBTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with RCBTB1: view

Pathways & Interactions for RCBTB1 Gene

SuperPathways for RCBTB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RCBTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007049 cell cycle IEA --
GO:0016569 covalent chromatin modification IEA --
genes like me logo Genes that share ontologies with RCBTB1: view

No data available for Pathways by source and SIGNOR curated interactions for RCBTB1 Gene

Transcripts for RCBTB1 Gene

Unigene Clusters for RCBTB1 Gene

Regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RCBTB1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b
SP1: - - - - - -
SP2: - -
SP3: - -
SP4:
SP5:
SP6:

Relevant External Links for RCBTB1 Gene

GeneLoc Exon Structure for
RCBTB1
ECgene alternative splicing isoforms for
RCBTB1

Expression for RCBTB1 Gene

mRNA expression in normal human tissues for RCBTB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RCBTB1 Gene

This gene is overexpressed in Fetal Brain (58.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RCBTB1 Gene



Protein tissue co-expression partners for RCBTB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RCBTB1 Gene:

RCBTB1

SOURCE GeneReport for Unigene cluster for RCBTB1 Gene:

Hs.508021

mRNA Expression by UniProt/SwissProt for RCBTB1 Gene:

Q8NDN9-RCBT1_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with RCBTB1: view

Primer Products

No data available for mRNA differential expression in normal tissues for RCBTB1 Gene

Orthologs for RCBTB1 Gene

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

Orthologs for RCBTB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RCBTB1 34 35
  • 99.5 (n)
oppossum
(Monodelphis domestica)
Mammalia RCBTB1 35
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RCBTB1 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RCBTB1 34 35
  • 93.6 (n)
cow
(Bos Taurus)
Mammalia RCBTB1 34 35
  • 91.09 (n)
mouse
(Mus musculus)
Mammalia Rcbtb1 34 16 35
  • 89.27 (n)
rat
(Rattus norvegicus)
Mammalia Rcbtb1 34
  • 88.01 (n)
chicken
(Gallus gallus)
Aves RCBTB1 34 35
  • 82.55 (n)
lizard
(Anolis carolinensis)
Reptilia RCBTB1 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rcbtb1 34
  • 71.26 (n)
zebrafish
(Danio rerio)
Actinopterygii rcbtb1 34 35
  • 74.33 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta ca 35
  • 6 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SRM1 35
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9432 35
  • 50 (a)
OneToMany
Species where no ortholog for RCBTB1 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)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RCBTB1 Gene

ENSEMBL:
Gene Tree for RCBTB1 (if available)
TreeFam:
Gene Tree for RCBTB1 (if available)

Paralogs for RCBTB1 Gene

Paralogs for RCBTB1 Gene

(1) SIMAP similar genes for RCBTB1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RCBTB1: view

Variants for RCBTB1 Gene

Sequence variations from dbSNP and Humsavar for RCBTB1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs200826424 Likely pathogenic 49,549,530(+) GAAGT(A/G)GGTGA nc-transcript-variant, downstream-variant-500B, reference, missense
rs368217569 Likely pathogenic 49,549,584(+) GTACA(C/T)GTGCC nc-transcript-variant, reference, missense, utr-variant-3-prime
rs772592456 Likely pathogenic 49,549,573(+) TGGCC(A/C)CACAT nc-transcript-variant, reference, missense, utr-variant-3-prime
rs777630688 Likely pathogenic 49,552,182(+) CCTGG(-/T)TCACA nc-transcript-variant, reference, frameshift-variant
rs869312819 Likely pathogenic 49,544,736(-) ATCAG(A/G)TATTT splice-donor-variant

Structural Variations from Database of Genomic Variants (DGV) for RCBTB1 Gene

Variant ID Type Subtype PubMed ID
dgv1651n100 CNV gain 25217958
dgv3140n54 CNV gain 21841781
esv2761789 CNV gain 21179565
esv2763020 CNV loss 21179565
esv3632050 CNV gain 21293372
nsv1052801 CNV gain 25217958
nsv455883 CNV gain 19166990
nsv525151 CNV gain 19592680
nsv977384 CNV duplication 23825009

Variation tolerance for RCBTB1 Gene

Residual Variation Intolerance Score: 6.29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.13; 22.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RCBTB1 Gene

Human Gene Mutation Database (HGMD)
RCBTB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RCBTB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RCBTB1 Gene

Disorders for RCBTB1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for RCBTB1 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
alcohol dependence
  • alcohol dependence, protection against
coats disease
  • coats' disease
chronic lymphocytic leukemia
  • cll
exudative vitreoretinopathy
  • familial exudative vitreoretinopathy
retinal telangiectasia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RCBTB1

Genetic Association Database (GAD)
RCBTB1
Human Genome Epidemiology (HuGE) Navigator
RCBTB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RCBTB1
genes like me logo Genes that share disorders with RCBTB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RCBTB1 Gene

Publications for RCBTB1 Gene

  1. Cloning and characterization of CLLD6, CLLD7, and CLLD8, novel candidate genes for leukemogenesis at chromosome 13q14, a region commonly deleted in B-cell chronic lymphocytic leukemia. (PMID: 11306461) Mabuchi H. … Croce C.M. (Cancer Res. 2001) 2 3 4 22 64
  2. 13q deletion in chronic lymphocytic leukemia: characterization of E4.5, a novel chromosome condensation regulator-like guanine nucleotide exchange factor. (PMID: 14565662) Solomou E.E. … Panayiotidis P. (Leuk. Lymphoma 2003) 3 4 22 64
  3. A multi-centre study of candidate genes for wheeze and allergy: the International Study of Asthma and Allergies in Childhood Phase 2. (PMID: 20085599) Genuneit J. … Moffatt M.F. (Clin. Exp. Allergy 2009) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4 64

Products for RCBTB1 Gene

Sources for RCBTB1 Gene

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