Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55213
Gene name Gene Name - the full gene name approved by the HGNC.
RCC1 and BTB domain containing protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RCBTB1
Synonyms (NCBI Gene) Gene synonyms aliases
CLLD7, CLLL7, GLP, RDEOA
Disease Acronyms (UniProt) Disease acronyms from UniProt database
RDEOA
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q14.2
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs200826424 G>A Pathogenic, likely-pathogenic Genic downstream transcript variant, missense variant, non coding transcript variant, downstream transcript variant, coding sequence variant
rs368217569 C>T Pathogenic, likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant, 3 prime UTR variant
rs772592456 C>A Pathogenic, likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs777630688 T>- Likely-pathogenic Coding sequence variant, frameshift variant, non coding transcript variant
rs869312819 C>T Likely-pathogenic Splice donor variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029126 hsa-miR-26b-5p Microarray 19088304
MIRT043750 hsa-miR-328-3p CLASH 23622248
MIRT054484 hsa-miR-26a-5p Luciferase reporter assay, Western blot, qRT-PCR 23689287
MIRT649962 hsa-miR-4768-3p HITS-CLIP 23824327
MIRT649961 hsa-miR-3691-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA
GO:0006325 Process Chromatin organization IEA
GO:0007049 Process Cell cycle IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607867 18243 ENSG00000136144
Protein
UniProt ID Q8NDN9
Protein name RCC1 and BTB domain-containing protein 1 (Chronic lymphocytic leukemia deletion region gene 7 protein) (CLL deletion region gene 7 protein) (Regulator of chromosome condensation and BTB domain-containing protein 1)
Protein function May be involved in cell cycle regulation by chromatin remodeling.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00415 RCC1 40 88 Regulator of chromosome condensation (RCC1) repeat Repeat
PF00415 RCC1 93 143 Regulator of chromosome condensation (RCC1) repeat Repeat
PF00415 RCC1 146 196 Regulator of chromosome condensation (RCC1) repeat Repeat
PF00415 RCC1 199 248 Regulator of chromosome condensation (RCC1) repeat Repeat
PF00415 RCC1 251 300 Regulator of chromosome condensation (RCC1) repeat Repeat
PF00651 BTB 360 467 BTB/POZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:11306461, PubMed:27486781). In the retina, present in the nerve fiber layer and to a lesser extent in the inner and outer plexiform layers (at protein level) (PubMed:27486781). {ECO:0000269|PubMed:1130646
Sequence
Sequence length 531
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Exudative vitreoretinopathy Familial Exudative Vitreoretinopathy rs267607154, rs1554403626, rs267607153, rs794726655, rs80358301, rs80358303, rs80358294, rs80358292, rs121908664, rs80358322, rs80358321, rs80358312, rs121908674, rs28939709, rs80358305
View all (26 more)
27486781
Pulmonary fibrosis Pulmonary Fibrosis rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899
View all (1 more)
Retinal dystrophy Retinal Dystrophies rs267606794, rs200691042, rs397704718, rs202193201, rs794728002, rs121965036, rs121965057, rs121918129, rs137853190, rs386834252, rs121918165, rs137853113, rs137853114, rs121918328, rs587777803
View all (2328 more)
Retinitis pigmentosa Retinitis Pigmentosa rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114
View all (1830 more)
27486781
Unknown
Disease term Disease name Evidence References Source
Reticular Dystrophy Of Retinal Pigment Epithelium reticular dystrophy of the retinal pigment epithelium GenCC
Exudative Vitreoretinopathy exudative vitreoretinopathy GenCC
Multiple Sclerosis Multiple Sclerosis GWAS
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Associations from Text Mining
Disease Name Relationship Type References
Asthma Associate 19672052
Atrophy Associate 35057699
Familial Exudative Vitreoretinopathies Associate 35876299, 37089697
Goiter Associate 27486781
Hypertensive Retinopathy Associate 34617687, 37408192
Intellectual Disability Associate 27486781
Leukemia Lymphocytic Chronic B Cell Associate 12010815
Mitochondrial Diseases Associate 37408192
Neoplasms Inhibit 20926398
Neoplasms Associate 36099812