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Aliases for RCBTB1 Gene

Aliases for RCBTB1 Gene

  • Regulator Of Chromosome Condensation (RCC1) And BTB (POZ) Domain Containing Protein 1 2 3
  • CLLD7 3 4 6
  • 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
  • GLP 3 6
  • GDP/GTP Exchange Factor (GEF)-Like Protein 3
  • RCC1 And BTB Domain-Containing Protein 1 3
  • CLLL7 3
  • E4.5 4

External Ids for RCBTB1 Gene

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 (Regulator Of Chromosome Condensation (RCC1) And BTB (POZ) Domain Containing Protein 1) is a Protein Coding gene. Diseases associated with RCBTB1 include alcohol dependence and chronic lymphocytic leukemia. 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

Genomic Location for RCBTB1 Gene

Start:
49,531,946 bp from pter
End:
49,585,587 bp from pter
Size:
53,642 bases
Orientation:
Minus strand

Genomic View for RCBTB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RCBTB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RCBTB1 Gene

Regulatory Elements 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

Proteomics data for RCBTB1 Gene at MOPED

Post-translational modifications for RCBTB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RCBTB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RCBTB1 Gene

Domains for RCBTB1 Gene

Gene Families for RCBTB1 Gene

HGNC:
  • BTBD :BTB/POZ domain containing

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
Domain:
  • Contains 2 BTB (POZ) domains.:
    • Q8NDN9
Similarity:
  • Contains 6 RCC1 repeats.:
    • Q8NDN9
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.

Gene Ontology (GO) - Molecular Function for RCBTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with RCBTB1: view
genes like me logo Genes that share phenotypes with RCBTB1: view

miRNA for RCBTB1 Gene

miRTarBase miRNAs that target RCBTB1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 3
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 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:0016568 chromatin modification IEA --
genes like me logo Genes that share ontologies with RCBTB1: view

No data available for Pathways by source 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:

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RCBTB1 Gene

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 expressions with RCBTB1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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 35
  • 99.5 (n)
  • 100 (a)
RCBTB1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RCBTB1 35
  • 91.09 (n)
  • 97.18 (a)
RCBTB1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RCBTB1 35
  • 93.6 (n)
  • 98.68 (a)
RCBTB1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rcbtb1 35
  • 89.27 (n)
  • 96.05 (a)
Rcbtb1 16
Rcbtb1 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RCBTB1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RCBTB1 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rcbtb1 35
  • 88.01 (n)
  • 95.86 (a)
chicken
(Gallus gallus)
Aves RCBTB1 35
  • 82.55 (n)
  • 89.83 (a)
RCBTB1 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RCBTB1 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rcbtb1 35
  • 71.26 (n)
  • 73.77 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
rcbtb1 35
  • 74.33 (n)
  • 81.73 (a)
rcbtb1 36
  • 82 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ca 36
  • 6 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SRM1 36
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9432 36
  • 50 (a)
OneToMany
Species with no ortholog for RCBTB1:
  • 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

Selected 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 MAF
rs4187 -- 49,532,197(+) AAAAA(-/ATAAAG/TAAAGA)TAATC utr-variant-3-prime
rs16659 -- 49,533,076(-) GTGAA(-/ACTTTATCATCTTTC)ACTTT cds-indel
rs729051 -- 49,546,073(+) CACTG(A/G)TGGGT intron-variant
rs874398 -- 49,551,155(-) CTCCC(C/T)GCTTC intron-variant
rs882970 -- 49,570,859(+) GACTG(A/C)GGCTC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv525151 CNV Gain 19592680
nsv900071 CNV Gain 21882294
nsv455883 CNV Gain 19166990

Relevant External Links for RCBTB1 Gene

HapMap Linkage Disequilibrium report
RCBTB1

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

Disorders for RCBTB1 Gene

(1) OMIM Diseases for RCBTB1 Gene (607867)

Relevant External Links for RCBTB1

Genetic Association Database (GAD)
RCBTB1
Human Genome Epidemiology (HuGE) Navigator
RCBTB1
genes like me logo Genes that share disorders with RCBTB1: view

No data available for UniProtKB/Swiss-Prot 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 23
  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 23
  3. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4
  4. 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 48
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for RCBTB1 Gene

Sources for RCBTB1 Gene

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