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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
    mouse all
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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
    		Compare labs

    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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