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RUNX3 runt-related transcription factor 3 [ Homo sapiens (human) ]

Gene ID: 864, updated on 5-Apr-2015
Official Symbol
RUNX3provided by HGNC
Official Full Name
runt-related transcription factor 3provided by HGNC
Primary source
HGNC:HGNC:10473
See related
Ensembl:ENSG00000020633; HPRD:02565; MIM:600210; Vega:OTTHUMG00000003316
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
AML2; CBFA3; PEBP2aC
Summary
This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYGGT-3' found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Orthologs
See RUNX3 in MapViewer
Location:
1p36
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (24899511..24965157, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (25226002..25291648, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene chloride intracellular channel 4 Neighboring gene uncharacterized LOC105376876 Neighboring gene uncharacterized LOC105376878 Neighboring gene microRNA 6731 Neighboring gene uncharacterized LOC105376879 Neighboring gene microRNA 4425

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.
NHGRI GWA Catalog
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
NHGRI GWA Catalog
Multiple common variants for celiac disease influencing immune gene expression.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of runt-related transcription factor 3 (RUNX3) in human B cells PubMed
Vif vif The binding of HIV-1 Vif to CBF-beta is mutually exclusive of endogenous RUNX transcriptional factors in cells. Vif inhibits transcription of a RUNX1 reporter gene by competition with CBF-beta PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ34510, MGC16070

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding RNA polymerase II transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
sequence-specific DNA binding RNA polymerase II transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
sequence-specific DNA binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
axon guidance IEA
Inferred from Electronic Annotation
more info
 
cell maturation IEA
Inferred from Electronic Annotation
more info
 
chondrocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
hair follicle morphogenesis IEA
Inferred from Electronic Annotation
more info
 
hemopoiesis IBA
Inferred from Biological aspect of Ancestor
more info
 
interferon-gamma production IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of epithelial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
ossification IBA
Inferred from Biological aspect of Ancestor
more info
 
peripheral nervous system neuron development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of extrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of transcription from RNA polymerase II promoter IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nuclear chromatin ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
runt-related transcription factor 3
Names
runt-related transcription factor 3
CBF-alpha-3
PEA2 alpha C
PEA2-alpha C
PEBP2 alpha C
PEBP2-alpha C
SL3-3 enhancer factor 1 alpha C subunit
SL3/AKV core-binding factor alpha C subunit
acute myeloid leukemia 2 protein
acute myeloid leukemia gene 2
core-binding factor subunit alpha-3
core-binding factor, runt domain, alpha subunit 3
oncogene AML-2
polyomavirus enhancer-binding protein 2 alpha C subunit
transcription factor AML2

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.

mRNA and Protein(s)

  1. NM_001031680.2NP_001026850.1  runt-related transcription factor 3 isoform 1

    See identical proteins and their annotated locations for NP_001026850.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as p46, represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI375031, AL023096, BC013362, DA935726
    Consensus CDS
    CCDS30633.1
    UniProtKB/TrEMBL
    A0A024RAH4
    UniProtKB/Swiss-Prot
    Q13761
    Related
    ENSP00000382800, ENST00000399916
    Conserved Domains (2) summary
    pfam00853
    Location:67200
    Runt; Runt domain
    pfam08504
    Location:327429
    RunxI; Runx inhibition domain
  2. NM_004350.2NP_004341.1  runt-related transcription factor 3 isoform 2

    See identical proteins and their annotated locations for NP_004341.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as p44, contains a distinct 5' UTR and uses an alternate translation initiation site, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus when compared to isoform 1.
    Source sequence(s)
    AI375031, AJ001432, AL023096, Z35278
    Consensus CDS
    CCDS257.1
    UniProtKB/Swiss-Prot
    Q13761
    Related
    ENSP00000308051, OTTHUMP00000003370, ENST00000308873, OTTHUMT00000009284
    Conserved Domains (2) summary
    pfam00853
    Location:53186
    Runt; Runt domain
    pfam08504
    Location:313415
    RunxI; Runx inhibition domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    24899511..24965157
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246024.3XP_005246081.1  

    See identical proteins and their annotated locations for XP_005246081.1

    UniProtKB/TrEMBL
    A0A024RAH4
    UniProtKB/Swiss-Prot
    Q13761
    Conserved Domains (2) summary
    pfam00853
    Location:67200
    Runt; Runt domain
    pfam08504
    Location:327429
    RunxI; Runx inhibition domain
  2. XM_011542351.1XP_011540653.1  

    Conserved Domains (2) summary
    pfam00853
    Location:67196
    Runt; Runt domain
    pfam08504
    Location:274376
    RunxI; Runx inhibition domain

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    25339525..25404974
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)