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RCBTB1 RCC1 and BTB domain containing protein 1 [ Homo sapiens (human) ]

Gene ID: 55213, updated on 5-Mar-2024

Summary

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Official Symbol
RCBTB1provided by HGNC
Official Full Name
RCC1 and BTB domain containing protein 1provided by HGNC
Primary source
HGNC:HGNC:18243
See related
Ensembl:ENSG00000136144 MIM:607867; AllianceGenome:HGNC:18243
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GLP; CLLD7; CLLL7; RDEOA
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]
Expression
Ubiquitous expression in thyroid (RPKM 19.0), brain (RPKM 9.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
13q14.2
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (49531946..49585558, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (48750484..48804060, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (50106082..50159694, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene SETDB2-PHF11 readthrough Neighboring gene SET domain bifurcated histone lysine methyltransferase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:50068895-50069580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7748 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7749 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 14 Neighboring gene PHD finger protein 11 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:50139673-50140480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7750 Neighboring gene uncharacterized LOC105370204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:50194124-50194624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:50194625-50195125 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7752 Neighboring gene Sharpr-MPRA regulatory region 6161 Neighboring gene ADP ribosylation factor like GTPase 11

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. Catomeris AJ, et al. Ophthalmic Genet, 2022 Jun. PMID 35057699, Free PMC Article
  2. Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy. Huang Z, et al. Ophthalmic Genet, 2021 Jun. PMID 33624564
  3. Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR. Yang J, et al. Curr Eye Res, 2021 Jun. PMID 33104391
  4. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. Coppieters F, et al. Am J Hum Genet, 2016 Aug 4. PMID 27486781, Free PMC Article
  5. Genome-wide interaction study identifies RCBTB1 as a modifier for smoking effect on carotid intima-media thickness. Wang L, et al. Arterioscler Thromb Vasc Biol, 2014 Jan. PMID 24202307, Free PMC Article

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.
    Title: Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.
  2. Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.
    Title: Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.
  3. Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR.
    Title: Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR.
  4. Data indicate RNA Binding Protein with Multiple Splicing (RBPMS), Regulator of Chromosome Condensation and POZ Domain Containing Protein 1 (RCBTB1), and Zinc Finger protein 608 (ZNF608) as miR-21-3p target genes.
    Title: Targeting miR-21-3p inhibits proliferation and invasion of ovarian cancer cells.
  5. study puts forward mutations in RCBTB1 as a cause of autosomal-recessive non-syndromic and syndromic inherited retinal dystrophies; data support a role for impaired ubiquitination in the pathogenetic mechanism of RCBTB1 mutations
    Title: Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
  6. Results identified RCBTB1 as a gene associated with vitreoretinopathy and found that it plays a role in retinal angiogenesis through Norrin-induced beta-catenin signaling.
    Title: Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy.
  7. Study identifies RCBTB1 as a modifier of the smoking effect on carotid intima-media thickness.
    Title: Genome-wide interaction study identifies RCBTB1 as a modifier for smoking effect on carotid intima-media thickness.
  8. Data show that the biological actions of Clld7 are consistent with those of a tumor suppressor.
    Title: Clld7, a candidate tumor suppressor on chromosome 13q14, regulates pathways of DNA damage/repair and apoptosis.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: A multi-centre study of candidate genes for wheeze and allergy: the International Study of Asthma and Allergies in Childhood Phase 2.
  10. E4.5 gene, which maps at chromosome band 13q14.3, encodes for a 4 kb mRNA expressed in various tissues and has an open reading frame of 531 amino acids. It has a potential role in the pathogenesis of chronic lymphocytic leukemia [E4.5]
    Title: 13q deletion in chronic lymphocytic leukemia: characterization of E4.5, a novel chromosome condensation regulator-like guanine nucleotide exchange factor.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
RCBTB1-related retinopathy
MedGen: C4310680 OMIM: 617175 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC33184

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin organization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
RCC1 and BTB domain-containing protein 1
Names
CLL deletion region gene 7 protein
GDP/GTP exchange factor (GEF)-like protein
chronic lymphocytic leukemia deletion region gene 7 protein
regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1
regulator of chromosome condensation and BTB domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_046892.1 RefSeqGene

    Range
    5049..58661
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001352500.2 → NP_001339429.1  RCC1 and BTB domain-containing protein 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), as well as variants 1 and 3-5, encodes isoform a.
    Source sequence(s)
    AL139321
    Consensus CDS
    CCDS9418.1
    UniProtKB/Swiss-Prot
    Q8IY29, Q8NDN9, Q969U9
    Conserved Domains (3) summary
    COG5184
    Location:43 → 316
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    cd18353
    Location:350 → 466
    BTB_POZ_RCBTB1_CLLD7; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in RCC1 and BTB domain-containing protein 1 (RCBTB1)
    cd18528
    Location:466 → 531
    BACK_RCBTB1; BACK (BTB and C-terminal Kelch) domain found in RCC1 and BTB domain-containing protein 1 (RCBTB1)

  2. NM_001352501.2 → NP_001339430.1  RCC1 and BTB domain-containing protein 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variants 1, 2, 4, and 5, encodes isoform a.
    Source sequence(s)
    AL139321
    Consensus CDS
    CCDS9418.1
    UniProtKB/Swiss-Prot
    Q8IY29, Q8NDN9, Q969U9
    Conserved Domains (3) summary
    COG5184
    Location:43 → 316
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    cd18353
    Location:350 → 466
    BTB_POZ_RCBTB1_CLLD7; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in RCC1 and BTB domain-containing protein 1 (RCBTB1)
    cd18528
    Location:466 → 531
    BACK_RCBTB1; BACK (BTB and C-terminal Kelch) domain found in RCC1 and BTB domain-containing protein 1 (RCBTB1)

  3. NM_001352502.2 → NP_001339431.1  RCC1 and BTB domain-containing protein 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 1-3 and 5, encodes isoform a.
    Source sequence(s)
    AL139321
    Consensus CDS
    CCDS9418.1
    UniProtKB/Swiss-Prot
    Q8IY29, Q8NDN9, Q969U9
    Related
    ENSP00000258646.3, ENST00000258646.3
    Conserved Domains (3) summary
    COG5184
    Location:43 → 316
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    cd18353
    Location:350 → 466
    BTB_POZ_RCBTB1_CLLD7; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in RCC1 and BTB domain-containing protein 1 (RCBTB1)
    cd18528
    Location:466 → 531
    BACK_RCBTB1; BACK (BTB and C-terminal Kelch) domain found in RCC1 and BTB domain-containing protein 1 (RCBTB1)

  4. NM_001352503.2 → NP_001339432.1  RCC1 and BTB domain-containing protein 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 1-4, encodes isoform a.
    Source sequence(s)
    AL139321
    Consensus CDS
    CCDS9418.1
    UniProtKB/Swiss-Prot
    Q8IY29, Q8NDN9, Q969U9
    Conserved Domains (3) summary
    COG5184
    Location:43 → 316
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    cd18353
    Location:350 → 466
    BTB_POZ_RCBTB1_CLLD7; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in RCC1 and BTB domain-containing protein 1 (RCBTB1)
    cd18528
    Location:466 → 531
    BACK_RCBTB1; BACK (BTB and C-terminal Kelch) domain found in RCC1 and BTB domain-containing protein 1 (RCBTB1)

  5. NM_001352504.2 → NP_001339433.1  RCC1 and BTB domain-containing protein 1 isoform b

    Status: REVIEWED

    Source sequence(s)
    AL139321
    Conserved Domains (2) summary
    smart00225
    Location:371 → 467
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cl27697
    Location:43 → 316
    RCC1; Regulator of chromosome condensation (RCC1) repeat

  6. NM_001352505.2 → NP_001339434.1  RCC1 and BTB domain-containing protein 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL139321
    Conserved Domains (1) summary
    COG5184
    Location:43 → 316
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

  7. NM_001352506.2 → NP_001339435.1  RCC1 and BTB domain-containing protein 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AL139321
    Conserved Domains (3) summary
    smart00225
    Location:178 → 274
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cd14821
    Location:274 → 332
    SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
    pfam00415
    Location:6 → 55
    RCC1; Regulator of chromosome condensation (RCC1) repeat

  8. NM_018191.4 → NP_060661.3  RCC1 and BTB domain-containing protein 1 isoform a

    See identical proteins and their annotated locations for NP_060661.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1-5 all encode the same isoform (a).
    Source sequence(s)
    AF334406, AI079751, AK090807, AK096654, AL833821
    Consensus CDS
    CCDS9418.1
    UniProtKB/Swiss-Prot
    Q8IY29, Q8NDN9, Q969U9
    Related
    ENSP00000367552.2, ENST00000378302.7
    Conserved Domains (3) summary
    COG5184
    Location:43 → 316
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    cd18353
    Location:350 → 466
    BTB_POZ_RCBTB1_CLLD7; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in RCC1 and BTB domain-containing protein 1 (RCBTB1)
    cd18528
    Location:466 → 531
    BACK_RCBTB1; BACK (BTB and C-terminal Kelch) domain found in RCC1 and BTB domain-containing protein 1 (RCBTB1)

RNA

  1. NR_148015.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL139321

  2. NR_148016.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL139321

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    49531946..49585558 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535134.2 → XP_011533436.1  RCC1 and BTB domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011533436.1

    UniProtKB/Swiss-Prot
    Q8IY29, Q8NDN9, Q969U9
    Conserved Domains (3) summary
    COG5184
    Location:43 → 316
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    cd18353
    Location:350 → 466
    BTB_POZ_RCBTB1_CLLD7; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in RCC1 and BTB domain-containing protein 1 (RCBTB1)
    cd18528
    Location:466 → 531
    BACK_RCBTB1; BACK (BTB and C-terminal Kelch) domain found in RCC1 and BTB domain-containing protein 1 (RCBTB1)

  2. XM_011535135.3 → XP_011533437.1  RCC1 and BTB domain-containing protein 1 isoform X2

    Conserved Domains (4) summary
    smart00225
    Location:242 → 338
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cd14821
    Location:338 → 396
    SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
    pfam00415
    Location:70 → 119
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam00651
    Location:231 → 335
    BTB; BTB/POZ domain

  3. XM_011535136.3 → XP_011533438.1  RCC1 and BTB domain-containing protein 1 isoform X4

    Conserved Domains (2) summary
    pfam00415
    Location:199 → 248
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:235 → 264
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat

  4. XM_047430433.1 → XP_047286389.1  RCC1 and BTB domain-containing protein 1 isoform X3

  5. XM_047430434.1 → XP_047286390.1  RCC1 and BTB domain-containing protein 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    48750484..48804060 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374658.1 → XP_054230633.1  RCC1 and BTB domain-containing protein 1 isoform X1

  2. XM_054374659.1 → XP_054230634.1  RCC1 and BTB domain-containing protein 1 isoform X2

  3. XM_054374662.1 → XP_054230637.1  RCC1 and BTB domain-containing protein 1 isoform X4

  4. XM_054374660.1 → XP_054230635.1  RCC1 and BTB domain-containing protein 1 isoform X3

  5. XM_054374661.1 → XP_054230636.1  RCC1 and BTB domain-containing protein 1 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NDN9.1 GenPept UniProtKB/Swiss-Prot:Q8NDN9

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