ENSG00000136144


Homo sapiens

Features
Gene ID: ENSG00000136144
  
Biological name :RCBTB1
  
Synonyms : Q8NDN9 / RCBTB1 / RCC1 and BTB domain containing protein 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 13
Strand: -1
Band: q14.2
Gene start: 49531946
Gene end: 49585583
  
Corresponding Affymetrix probe sets: 1554934_at (Human Genome U133 Plus 2.0 Array)   218352_at (Human Genome U133 Plus 2.0 Array)   237417_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000367552
Ensembl peptide - ENSP00000258646
NCBI entrez gene - 55213     See in Manteia.
OMIM - 607867
RefSeq - NM_001352503
RefSeq - NM_018191
RefSeq - XM_011535136
RefSeq - NM_001352500
RefSeq - NM_001352501
RefSeq - NM_001352502
RefSeq - XM_005266441
RefSeq - XM_011535133
RefSeq - XM_011535134
RefSeq - XM_011535135
RefSeq Peptide - NP_001339429
RefSeq Peptide - NP_001339430
RefSeq Peptide - NP_001339431
RefSeq Peptide - NP_001339432
RefSeq Peptide - NP_060661
swissprot - Q8NDN9
Ensembl - ENSG00000136144
  
Related genetic diseases (OMIM): 617175 - Retinal dystrophy with or without extraocular anomalies, 617175
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rcbtb1ENSDARG00000036645Danio rerio
 RCBTB1ENSGALG00000017008Gallus gallus
 Rcbtb1ENSMUSG00000035469Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O95199 / RCBTB2 / RCC1 and BTB domain containing protein 2ENSG0000013616170
RPGR / Q92834 / retinitis pigmentosa GTPase regulatorENSG0000015631326
RCC2 / Q9P258 / regulator of chromosome condensation 2ENSG0000017905119
RCC1L / Q96I51 / RCC1 likeENSG0000027452317
RCC1 / P18754 / regulator of chromosome condensation 1ENSG0000018019815
Q9UGK8 / SERGEF / secretion regulating guanine nucleotide exchange factorENSG0000012915815


Protein motifs (from Interpro)
Interpro ID Name
 IPR000210  BTB/POZ domain
 IPR000408  Regulator of chromosome condensation, RCC1
 IPR009091  Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II
 IPR011333  SKP1/BTB/POZ domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006325 chromatin organization IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007049 cell cycle IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IDA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000556 Retinal dystrophy 
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 HP:0000853 Goiter "An enlargement of the thyroid gland." [HPO:curators]
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 HP:0000869 Secondary amenorrhea 
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 HP:0002206 Pulmonary fibrosis 
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 HP:0007663 Decreased central vision 
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 HP:0008209 Premature ovarian failure 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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