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

    Gene ID: 55213, updated on 3-Nov-2018

    Summary

    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; Vega:OTTHUMG00000016915
    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

    Genomic context

    See RCBTB1 in Genome Data Viewer
    Location:
    13q14.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (49531944..49585587, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (50106082..50159742, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene SETDB2-PHF11 readthrough Neighboring gene SET domain bifurcated 2 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 14 Neighboring gene PHD finger protein 11 Neighboring gene uncharacterized LOC105370204 Neighboring gene ADP ribosylation factor like GTPase 11

    Genomic regions, transcripts, and products

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC33184

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin organization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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)

    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
      5024..58661
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001352500.1NP_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
      Conserved Domains (3) summary
      smart00225
      Location:371467
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:467525
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      cl27697
      Location:43316
      RCC1; Regulator of chromosome condensation (RCC1) repeat
    2. NM_001352501.1NP_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
      Conserved Domains (3) summary
      smart00225
      Location:371467
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:467525
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      cl27697
      Location:43316
      RCC1; Regulator of chromosome condensation (RCC1) repeat
    3. NM_001352502.1NP_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
      Related
      ENSP00000258646.3, ENST00000258646.3
      Conserved Domains (3) summary
      smart00225
      Location:371467
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:467525
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      cl27697
      Location:43316
      RCC1; Regulator of chromosome condensation (RCC1) repeat
    4. NM_001352503.1NP_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
      Conserved Domains (3) summary
      smart00225
      Location:371467
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:467525
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      cl27697
      Location:43316
      RCC1; Regulator of chromosome condensation (RCC1) repeat
    5. NM_001352504.1NP_001339433.1  RCC1 and BTB domain-containing protein 1 isoform b

      Status: REVIEWED

      Source sequence(s)
      AL139321
      Conserved Domains (2) summary
      smart00225
      Location:371467
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cl27697
      Location:43316
      RCC1; Regulator of chromosome condensation (RCC1) repeat
    6. NM_001352505.1NP_001339434.1  RCC1 and BTB domain-containing protein 1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AL139321
      Conserved Domains (1) summary
      cl27697
      Location:43316
      RCC1; Regulator of chromosome condensation (RCC1) repeat
    7. NM_001352506.1NP_001339435.1  RCC1 and BTB domain-containing protein 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL139321
      Conserved Domains (3) summary
      smart00225
      Location:178274
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:274332
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      pfam00415
      Location:655
      RCC1; Regulator of chromosome condensation (RCC1) repeat
    8. NM_018191.3NP_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
      Q8NDN9
      UniProtKB/TrEMBL
      B3KR20
      Related
      ENSP00000367552.2, OTTHUMP00000018413, ENST00000378302.6, OTTHUMT00000044912
      Conserved Domains (3) summary
      smart00225
      Location:371467
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:467525
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      cl27697
      Location:43316
      RCC1; Regulator of chromosome condensation (RCC1) repeat

    RNA

    1. NR_148015.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL139321
    2. NR_148016.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL139321

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

      Range
      49531944..49585587 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535134.1XP_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
      Q8NDN9
      Conserved Domains (3) summary
      smart00225
      Location:371467
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:467525
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      cl27697
      Location:43316
      RCC1; Regulator of chromosome condensation (RCC1) repeat
    2. XM_011535135.2XP_011533437.1  RCC1 and BTB domain-containing protein 1 isoform X2

      Conserved Domains (4) summary
      smart00225
      Location:242338
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14821
      Location:338396
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      pfam00415
      Location:70119
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam00651
      Location:231335
      BTB; BTB/POZ domain
    3. XM_011535136.2XP_011533438.1  RCC1 and BTB domain-containing protein 1 isoform X3

      Conserved Domains (2) summary
      pfam00415
      Location:199248
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:235264
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat

    RNA

    1. XR_941613.1 RNA Sequence

    2. XR_001749596.1 RNA Sequence

    3. XR_245392.1 RNA Sequence

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