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    RREB1 ras responsive element binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 6239, updated on 4-Dec-2022

    Summary

    Official Symbol
    RREB1provided by HGNC
    Official Full Name
    ras responsive element binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:10449
    See related
    Ensembl:ENSG00000124782 MIM:602209; AllianceGenome:HGNC:10449
    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
    HNT; FINB; LZ321; Zep-1; RREB-1
    Summary
    The protein encoded by this gene is a zinc finger transcription factor that binds to RAS-responsive elements (RREs) of gene promoters. It has been shown that the calcitonin gene promoter contains an RRE and that the encoded protein binds there and increases expression of calcitonin, which may be involved in Ras/Raf-mediated cell differentiation. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
    Expression
    Ubiquitous expression in bone marrow (RPKM 4.1), colon (RPKM 3.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RREB1 in Genome Data Viewer
    Location:
    6p24.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (7107743..7251980)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (6977349..7121600)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (7107976..7252213)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374904 Neighboring gene Sharpr-MPRA regulatory region 13455 Neighboring gene Sharpr-MPRA regulatory region 12169 Neighboring gene Sharpr-MPRA regulatory region 2085 Neighboring gene VISTA enhancer hs2061 Neighboring gene Sharpr-MPRA regulatory region 4659 Neighboring gene skeletal muscle cis-regulatory module in RREB1 intron Neighboring gene Sharpr-MPRA regulatory region 2698 Neighboring gene Sharpr-MPRA regulatory region 14963 Neighboring gene signal sequence receptor subunit 1

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    EBI GWAS Catalog
    Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.
    EBI GWAS Catalog
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    EBI GWAS Catalog
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide association of body fat distribution in African ancestry populations suggests new loci.
    EBI GWAS Catalog
    Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog
    Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of ras responsive element binding protein 1 (RREB1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear body TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    ras-responsive element-binding protein 1
    Names
    DNA-binding protein
    finger protein in nuclear bodies
    hindsight homolog
    raf-responsive zinc finger protein LZ321
    zinc finger motif enhancer-binding protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_016201.1 RefSeqGene

      Range
      5365..149384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001003698.4NP_001003698.1  ras-responsive element-binding protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001003698.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 3 both encode isoform 2.
      Source sequence(s)
      AB019351, AL139095, AL355336, AL589644, BI818966
      Consensus CDS
      CCDS34336.1
      UniProtKB/Swiss-Prot
      Q92766, Q9Y474
      UniProtKB/TrEMBL
      A0A024QZU8
      Related
      ENSP00000305560.10, ENST00000349384.10
      Conserved Domains (5) summary
      COG5048
      Location:64246
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:6888
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:15401562
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:15261550
      zf-H2C2_2; Zinc-finger double domain
      pfam15724
      Location:14121476
      TMEM119; TMEM119 family
    2. NM_001003699.4NP_001003699.1  ras-responsive element-binding protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001003699.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB019254, AL139095, AL355336, AL589644, BI818966
      Consensus CDS
      CCDS34335.1
      UniProtKB/Swiss-Prot
      Q92766
      Related
      ENSP00000369270.2, ENST00000379938.7
      Conserved Domains (5) summary
      COG5048
      Location:64246
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:6888
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:15951617
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:15811605
      zf-H2C2_2; Zinc-finger double domain
      pfam15724
      Location:14671531
      TMEM119; TMEM119 family
    3. NM_001003700.2NP_001003700.1  ras-responsive element-binding protein 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AB019352, AL139095, AL355336, AL589644, BI818966
      Consensus CDS
      CCDS54963.1
      UniProtKB/Swiss-Prot
      Q92766
      Related
      ENSP00000335574.6, ENST00000334984.10
      Conserved Domains (4) summary
      COG5048
      Location:64246
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:6888
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:13291351
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:111136
      zf-H2C2_2; Zinc-finger double domain
    4. NM_001168344.2NP_001161816.1  ras-responsive element-binding protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001161816.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 3 both encode isoform 2.
      Source sequence(s)
      AB019351, AL139095, AL355336, AL589644, D49835, U26914
      Consensus CDS
      CCDS34336.1
      UniProtKB/Swiss-Prot
      Q92766, Q9Y474
      UniProtKB/TrEMBL
      A0A024QZU8
      Related
      ENSP00000369265.3, ENST00000379933.7
      Conserved Domains (5) summary
      COG5048
      Location:64246
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:6888
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:15401562
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:15261550
      zf-H2C2_2; Zinc-finger double domain
      pfam15724
      Location:14121476
      TMEM119; TMEM119 family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      7107743..7251980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      6977349..7121600
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_002955.4: Suppressed sequence

      Description
      NM_002955.4: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.