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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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