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

Gene ID: 6239, updated on 12-Oct-2019

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
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

Genomic context

See RREB1 in Genome Data Viewer
Location:
6p24.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (7107743..7251980)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (7107830..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 2085 Neighboring gene VISTA enhancer hs2061 Neighboring gene skeletal muscle cis-regulatory module in RREB1 intron Neighboring gene Sharpr-MPRA regulatory region 2698 Neighboring gene signal sequence receptor subunit 1 Neighboring gene cancer antigen 1 Neighboring gene ribosomal protein S3 pseudogene 4

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

NHGRI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
NHGRI GWA 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.
NHGRI GWA Catalog
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
NHGRI GWA Catalog
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
Genome-wide association of body fat distribution in African ancestry populations suggests new loci.
NHGRI GWA Catalog
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
NHGRI GWA Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
NHGRI GWA Catalog
Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.
NHGRI GWA 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
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
extracellular exosome HDA PubMed 
fibrillar center IDA
Inferred from Direct Assay
more info
 
nuclear body TAS
Traceable Author Statement
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    5147..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
    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
    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 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    7107743..7251980
    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.
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