RCBTB1 - RCC1 and BTB domain containing protein 1 Gene

Also Known as GLP; CLLD7; CLLL7; RDEOA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55213

About RCBTB1

Cytogenetic location: 13q14.2 Genomic coordinates (GRCh38): 13:49,531,946-49,585,558 (from NCBI)

This gene has 4 transcripts (splice variants), 271 orthologues, 9 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 19.0), brain (RPKM 9.6) and 25 other tissues.

Summary

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]

RCBTB1 Products (8)

mRNA Protein Name
NM_001352500.2 NP_001339429.1 RCC1 and BTB domain-containing protein 1 isoform a
NM_001352501.2 NP_001339430.1 RCC1 and BTB domain-containing protein 1 isoform a
NM_001352502.2 NP_001339431.1 RCC1 and BTB domain-containing protein 1 isoform a
NM_001352503.2 NP_001339432.1 RCC1 and BTB domain-containing protein 1 isoform a
NM_001352504.2 NP_001339433.1 RCC1 and BTB domain-containing protein 1 isoform b
NM_001352505.2 NP_001339434.1 RCC1 and BTB domain-containing protein 1 isoform c
NM_001352506.2 NP_001339435.1 RCC1 and BTB domain-containing protein 1 isoform d
NM_018191.4 NP_060661.3 RCC1 and BTB domain-containing protein 1 isoform a

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RCBTB1 Protein Structure

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (41 - 83)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (93 - 143)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (146 - 196)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (199 - 248)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (251 - 299)

BTB

BTB: BTB/POZ domain (361 - 465)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 531 a.a.
Protein Preferred Names Protein Names

RCC1 and BTB domain-containing protein 1

  • CLL deletion region gene 7 protein

RCBTB1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RCBTB1 Q8NDN9 ANKRD40 Homo sapiens Q6AI12
Anti Tag CoIP
28514442
Intra
RCBTB1 Q8NDN9 ANKRD40 Homo sapiens Q6AI12
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Retinal Dystrophy With Or Without Extraocular Anomalies

  • RDEOA

  • Dystrophy, Retinal, With/Without Extraocular Anomalies
Reticular Dystrophy Of Retinal Pigment Epithelium

  • Reticular Dystrophy Of The Retinal Pigment Epithelium
Coats Disease

  • Exudative Retinopathy

  • Retinal Telangiectasis

  • Coats' Disease

  • Leber Miliary Aneurysm

  • Coats' Syndrome

  • Congenital Retinal Telangiectasia
Exudative Vitreoretinopathy

  • Familial Exudative Vitreoretinopathy

  • Fevr

  • Criswick-Schepens Syndrome

  • Exudative Vitreoretinopathy, Familial

  • Vitreoretinopathy, Exudative )

  • Exudative Vitreoretinopathy 1
Retinitis Pigmentosa

  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1
Retinal Telangiectasia
Cone-Rod Dystrophy 2

  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy
Infantile Cerebellar-Retinal Degeneration

  • ICRD

  • Infantile Cerebellar Retinal Degeneration

  • Degeneration, Cerebellar-Retinal, Infantile
Sensorineural Hearing Loss

  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency
Norrie Disease

  • Atrophia Bulborum Hereditaria

  • Episkopi Blindness

  • Pseudoglioma

  • ND

  • Norrie-Warburg Disease

  • Anderson-Warburg Syndrome

  • Fetal Iritis Syndrome

  • Norrie Syndrome

  • Norrie-Warburg Syndrome

  • Ndp

  • Congenital Progressive Oculo-Acoustico-Cerebral Degeneration

  • Norrie'S Disease

  • Oligophrenia Microphthalmus

  • Pseudoglioma Congenita

  • Whitnall-Norman Syndrome
Fundus Dystrophy

  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11782 RCBTB1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta RCBTB1 VGNC VGNC:76763
Rattus norvegicus RCBTB1 RGD RGD:1308467
Canis familiaris RCBTB1 VGNC VGNC:45439
Bos taurus RCBTB1 VGNC VGNC:33823
Mus musculus RCBTB1 MGD MGI:1918580
Others RCBTB1 NCBI