2. Gene
  3. RCBTB1 - RCC1 and BTB domain containing protein 1 Gene

RCBTB1 - RCC1 and BTB domain containing protein 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as GLP; CLLD7; CLLL7; RDEOA

Gene ID: 55213 | Gene type: protein coding

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

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)

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  • 531 a.a.
Protein Preferred Names Protein Names

RCC1 and BTB domain-containing protein 1

CLL deletion region gene 7 protein

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