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Aliases for RUNX1T1 Gene

Aliases for RUNX1T1 Gene

  • RUNX1 Translocation Partner 1 2 3 5
  • Core-Binding Factor, Runt Domain, Alpha Subunit 2; Translocated To, 1; Cyclin D-Related 2 3
  • Runt Related Transcription Factor 1; Translocated To, 1 (Cyclin D Related) 2 3
  • Zinc Finger MYND Domain-Containing Protein 2 3 4
  • Eight Twenty One Protein 3 4
  • CBFA2T1 3 4
  • AML1T1 3 4
  • ZMYND2 3 4
  • MTG8 3 4
  • CDR 3 4
  • ETO 3 4
  • Acute Myelogenous Leukemia 1 Translocation 1, Cyclin-D Related 3
  • Myeloid Translocation Gene On 8q22 3
  • Cyclin-D-Related Protein 4
  • Protein CBFA2T1 3
  • Protein MTG8 4
  • Protein ETO 4
  • AML1-MTG8 3

External Ids for RUNX1T1 Gene

Previous HGNC Symbols for RUNX1T1 Gene

  • AML1T1
  • CBFA2T1

Previous GeneCards Identifiers for RUNX1T1 Gene

  • GC08M093041
  • GC08M088178
  • GC08M092971

Summaries for RUNX1T1 Gene

Entrez Gene Summary for RUNX1T1 Gene

  • This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

GeneCards Summary for RUNX1T1 Gene

RUNX1T1 (RUNX1 Translocation Partner 1) is a Protein Coding gene. Diseases associated with RUNX1T1 include Acute Myeloid Leukemia With T(8;21)(Q22;Q22) Translocation and Myeloid Leukemia. Among its related pathways are Pathways in cancer and Transcriptional misregulation in cancer. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and identical protein binding. An important paralog of this gene is CBFA2T3.

UniProtKB/Swiss-Prot for RUNX1T1 Gene

  • Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). Can repress transactivation mediated by TCF12 (PubMed:16803958). Acts as a negative regulator of adipogenesis (By similarity). The AML1-MTG8/ETO fusion protein frequently found in leukemic cells is involved in leukemogenesis and contributes to hematopoietic stem/progenitor cell self-renewal (PubMed:23812588).

Gene Wiki entry for RUNX1T1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RUNX1T1 Gene

Genomics for RUNX1T1 Gene

Regulatory Elements for RUNX1T1 Gene

Enhancers for RUNX1T1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F092070 0.6 Ensembl 11.5 +33.2 33186 0.2 SREBF1 RUNX1T1 GC08P092008
GH08F092148 0.2 ENCODE 11.2 -45.6 -45611 1.3 PKNOX1 DPF2 REST GATA3 CTBP1 JUND MTA1 CUX1 RUNX1T1 RPS26P10 GC08M092167
GH08F092058 1.4 VISTA Ensembl ENCODE 10.8 +42.3 42305 6.0 CTCF PKNOX1 MAX SIN3A RAD21 ZNF366 POLR2A PRDM10 ZNF600 FOS RUNX1T1 GC08P092008
GH08F092100 0.6 ENCODE 0.8 +0.7 746 4.1 PKNOX1 SIN3A RAD21 GLIS2 EGR2 ZNF263 SP3 REST ZEB2 ZNF843 RUNX1T1 GC08P092008
GH08F092098 1.4 Ensembl 0.8 +4.6 4586 0.2 OSR2 SMARCA4 FEZF1 ZNF843 SP7 RUNX1T1 GC08P092008
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RUNX1T1 on UCSC Golden Path with GeneCards custom track

Promoters for RUNX1T1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001396194 1386 4601 PKNOX1 SIN3A RAD21 GLIS2 EGR2 ZNF263 SP3 REST ZEB2 ZNF843

Transcription factor binding sites by QIAGEN in the RUNX1T1 gene promoter:

Genomic Location for RUNX1T1 Gene

Chromosome:
8
Start:
91,954,967 bp from pter
End:
92,103,286 bp from pter
Size:
148,320 bases
Orientation:
Minus strand

Genomic View for RUNX1T1 Gene

Genes around RUNX1T1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RUNX1T1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RUNX1T1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RUNX1T1 Gene

Proteins for RUNX1T1 Gene

  • Protein details for RUNX1T1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06455-MTG8_HUMAN
    Recommended name:
    Protein CBFA2T1
    Protein Accession:
    Q06455
    Secondary Accessions:
    • B7Z4P4
    • E7EPN4
    • O14784
    • Q06456
    • Q14873
    • Q16239
    • Q16346
    • Q16347
    • Q6IBL1
    • Q6NXH1
    • Q7Z4J5
    • Q92479
    • Q9BRZ0

    Protein attributes for RUNX1T1 Gene

    Size:
    604 amino acids
    Molecular mass:
    67566 Da
    Quaternary structure:
    • Homooligomer. Homotetramerization is mediated by nervy homology region 2 (NRH2). Can interact with CBFA2T2 and CBFA2T3; heterotetramerization between members of the CBFA2T family is proposed. Interacts with TCF12, SIN3A, HDAC1, HDAC2, HDAC3, NCOR1, NCOR2. Interacts with ATN1 (via its N-terminus); the interaction enhances the transcriptional repression. AML1-MTG8/ETO fusion protein interacts with CBFB. AML1-MTG8/ETO is part of a stable transcription factor complex AETFC in leukemic cells; AETFC formation seems to be involved in recruitment of EP300. AML1-MTG8/ETO nervy homology region 2-mediated oligomerization is proposed to be homotypic, required for AML1-MTG8/ETO-mediated tranformation of primary hematopoietic cells and is required for AML1-MTG8/ETO interaction with TCF12.
    SequenceCaution:
    • Sequence=AAH05850.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA03247.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RUNX1T1 Gene

    Alternative splice isoforms for RUNX1T1 Gene

neXtProt entry for RUNX1T1 Gene

Post-translational modifications for RUNX1T1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RUNX1T1 Gene

Domains & Families for RUNX1T1 Gene

Gene Families for RUNX1T1 Gene

Protein Domains for RUNX1T1 Gene

Graphical View of Domain Structure for InterPro Entry

Q06455

UniProtKB/Swiss-Prot:

MTG8_HUMAN :
  • The TAFH domain mediates interaction with transcription regulators.
  • Belongs to the CBFA2T family.
  • Contains 1 MYND-type zinc finger.
Domain:
  • The TAFH domain mediates interaction with transcription regulators.
  • Nervy homology region 2 (NHR2) mediates homo- and possibly heterotypic oligomerization by forming a four-helix bundle tetrameric structure.
  • Contains 1 TAFH (NHR1) domain.
Family:
  • Belongs to the CBFA2T family.
Similarity:
  • Contains 1 MYND-type zinc finger.
genes like me logo Genes that share domains with RUNX1T1: view

Function for RUNX1T1 Gene

Molecular function for RUNX1T1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). Can repress transactivation mediated by TCF12 (PubMed:16803958). Acts as a negative regulator of adipogenesis (By similarity). The AML1-MTG8/ETO fusion protein frequently found in leukemic cells is involved in leukemogenesis and contributes to hematopoietic stem/progenitor cell self-renewal (PubMed:23812588).

Gene Ontology (GO) - Molecular Function for RUNX1T1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA,TAS --
GO:0003714 transcription corepressor activity TAS 23251453
GO:0005515 protein binding IPI 10973986
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RUNX1T1: view
genes like me logo Genes that share phenotypes with RUNX1T1: view

Animal Models for RUNX1T1 Gene

MGI Knock Outs for RUNX1T1:

Animal Model Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RUNX1T1 Gene

Localization for RUNX1T1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RUNX1T1 Gene

Nucleus. Note=Colocalizes with ATN1 in discrete nuclear dots.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RUNX1T1 Gene COMPARTMENTS Subcellular localization image for RUNX1T1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3
extracellular 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for RUNX1T1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0016363 nuclear matrix IDA 10973986
genes like me logo Genes that share ontologies with RUNX1T1: view

Pathways & Interactions for RUNX1T1 Gene

genes like me logo Genes that share pathways with RUNX1T1: view

Pathways by source for RUNX1T1 Gene

1 Cell Signaling Technology pathway for RUNX1T1 Gene

Gene Ontology (GO) - Biological Process for RUNX1T1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy TAS 9618262
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0045599 negative regulation of fat cell differentiation ISS --
GO:0045892 negative regulation of transcription, DNA-templated IDA 23251453
genes like me logo Genes that share ontologies with RUNX1T1: view

No data available for SIGNOR curated interactions for RUNX1T1 Gene

Drugs & Compounds for RUNX1T1 Gene

(4) Drugs for RUNX1T1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for RUNX1T1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RUNX1T1: view

Transcripts for RUNX1T1 Gene

Unigene Clusters for RUNX1T1 Gene

Runt-related transcription factor 1; translocated to, 1 (cyclin D-related):
Representative Sequences:

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RUNX1T1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f ^ 10a · 10b ·
SP1: - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - -
SP4:
SP5: - - - - - - - - - - - -
SP6: - - - - - - - - - - -
SP7: - -
SP8:
SP9: - - - - - - - -
SP10: - - -
SP11: - - - - - - - - - - - - -
SP12: - - - - - - - - - - - -
SP13: - - - - - - - - - - - - - -
SP14: - -
SP15: - - - - - - - - -
SP16: - - - - - - - -
SP17: - - - - - - - -
SP18: - - - - - - -
SP19: - - - - - - -
SP20: - - - - - - - - - - -
SP21: - - - - - - -
SP22: - - - - - - -
SP23: - - -
SP24: - - - - - - - - - -
SP25: - - - - - - - -
SP26: - -

ExUns: 10c · 10d · 10e · 10f · 10g ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:

Relevant External Links for RUNX1T1 Gene

GeneLoc Exon Structure for
RUNX1T1
ECgene alternative splicing isoforms for
RUNX1T1

Expression for RUNX1T1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RUNX1T1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RUNX1T1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.0) and Brain - Cerebellum (x4.6).

NURSA nuclear receptor signaling pathways regulating expression of RUNX1T1 Gene:

RUNX1T1

SOURCE GeneReport for Unigene cluster for RUNX1T1 Gene:

Hs.368431

mRNA Expression by UniProt/SwissProt for RUNX1T1 Gene:

Q06455-MTG8_HUMAN
Tissue specificity: Most abundantly expressed in brain. Lower levels in lung, heart, testis and ovary.
genes like me logo Genes that share expression patterns with RUNX1T1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for RUNX1T1 Gene

Orthologs for RUNX1T1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RUNX1T1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RUNX1T1 34 35
  • 99.7 (n)
cow
(Bos Taurus)
Mammalia RUNX1T1 35
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RUNX1T1 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RUNX1T1 34 35
  • 93.01 (n)
mouse
(Mus musculus)
Mammalia Runx1t1 34 16 35
  • 91.9 (n)
rat
(Rattus norvegicus)
Mammalia Runx1t1 34
  • 91.83 (n)
oppossum
(Monodelphis domestica)
Mammalia RUNX1T1 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves RUNX1T1 34 35
  • 89.29 (n)
lizard
(Anolis carolinensis)
Reptilia RUNX1T1 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia runx1t1 34
  • 85.24 (n)
zebrafish
(Danio rerio)
Actinopterygii runx1t1 34 35
  • 78.51 (n)
wufj53h11 34
fruit fly
(Drosophila melanogaster)
Insecta nvy 35
  • 25 (a)
OneToMany
Species where no ortholog for RUNX1T1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RUNX1T1 Gene

ENSEMBL:
Gene Tree for RUNX1T1 (if available)
TreeFam:
Gene Tree for RUNX1T1 (if available)

Paralogs for RUNX1T1 Gene

Variants for RUNX1T1 Gene

Sequence variations from dbSNP and Humsavar for RUNX1T1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_036321 A colorectal cancer sample
VAR_036322 A colorectal cancer sample
VAR_036323 A colorectal cancer sample
rs10089969 -- 92,048,668(+) TGATG(G/T)TCATT intron-variant
rs10091581 -- 91,973,065(+) ggggc(A/G)atgtg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RUNX1T1 Gene

Variant ID Type Subtype PubMed ID
nsv1022473 CNV loss 25217958

Variation tolerance for RUNX1T1 Gene

Residual Variation Intolerance Score: 8.08% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.06; 21.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RUNX1T1 Gene

Human Gene Mutation Database (HGMD)
RUNX1T1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RUNX1T1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RUNX1T1 Gene

Disorders for RUNX1T1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for RUNX1T1 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
acute myeloid leukemia with t(8;21)(q22;q22) translocation
  • aml with t(8;21)(q22;q22) translocation
myeloid leukemia
  • leukemia myelogenous
leukemia
superior mesenteric artery syndrome
  • arteriomesenteric duodenal compression syndrome
lymphoid leukemia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MTG8_HUMAN
  • Note=A chromosomal aberration involving RUNX1T1 is a cause of acute myeloid leukemia (AML-M2). Translocation t(8;21)(q22;q22) with RUNX1/AML1. {ECO:0000269 PubMed:1423235, ECO:0000269 PubMed:7541640, ECO:0000269 PubMed:8334990, ECO:0000269 PubMed:8353289}.

Relevant External Links for RUNX1T1

Genetic Association Database (GAD)
RUNX1T1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RUNX1T1
genes like me logo Genes that share disorders with RUNX1T1: view

No data available for Genatlas for RUNX1T1 Gene

Publications for RUNX1T1 Gene

  1. A TAF4-homology domain from the corepressor ETO is a docking platform for positive and negative regulators of transcription. (PMID: 17572682) Wei Y. … Werner M.H. (Nat. Struct. Mol. Biol. 2007) 3 4 22 64
  2. Structure and expression of the human MTG8/ETO gene. (PMID: 9661669) Wolford J.K. … Prochazka M. (Gene 1998) 3 4 22 64
  3. CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family. (PMID: 9790752) Calabi F. … Cilli V. (Genomics 1998) 2 3 22 64
  4. Identification of two transcripts of AML1/ETO-fused gene in t(8;21) leukemic cells and expression of wild-type ETO gene in hematopoietic cells. (PMID: 7541640) Era T. … Takatsuki K. (Genes Chromosomes Cancer 1995) 3 4 22 64
  5. The t(8;21) translocation in acute myeloid leukemia results in production of an AML1-MTG8 fusion transcript. (PMID: 8334990) Miyoshi H. … Ohki M. (EMBO J. 1993) 3 4 22 64

Products for RUNX1T1 Gene

Sources for RUNX1T1 Gene

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