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Aliases for RUNX1T1 Gene

Aliases for RUNX1T1 Gene

  • Runt-Related Transcription Factor 1; Translocated To, 1 (Cyclin D-Related) 2 3
  • Core-Binding Factor, Runt Domain, Alpha Subunit 2; 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
  • CBFA2T1 Isoform R1t1-11a61 3
  • CBFA2T1 Isoform R1t1-11a62 3
  • CBFA2T1 Isoform R1t1-11a63 3
  • CBFA2T1 Isoform R1t1-11a64 3
  • CBFA2T1 Isoform R1t1-11a65 3
  • CBFA2T1 Isoform R1t1-7a47 3
  • CBFA2T1 Isoform R1t1-7a48 3
  • CBFA2T1 Isoform R1t1-7a49 3
  • CBFA2T1 Isoform R1t1-7a50 3
  • CBFA2T1 Isoform R1t1-7a51 3
  • CBFA2T1 Isoform R1t1-7a52 3
  • CBFA2T1 Isoform R1t1-7d53 3
  • CBFA2T1 Isoform R1t1-7d54 3
  • CBFA2T1 Isoform R1t1-7d55 3
  • CBFA2T1 Isoform R1t1-7d56 3
  • CBFA2T1 Isoform R1t1-8a57 3
  • CBFA2T1 Isoform R1t1-8a58 3
  • CBFA2T1 Isoform R1t1-8a59 3
  • CBFA2T1 Isoform R1t1-8a60 3
  • Cyclin-D-Related Protein 4
  • 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 (Runt-Related Transcription Factor 1; Translocated To, 1 (Cyclin D-Related)) 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).

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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene 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:
    • Homotetramer. Heterotetramer with CBFA2T2 and CBFA2T3. Interacts with TCF12, SIN3A, HDAC1, HDAC2, HDAC3, NCOR1 and NCOR2. Interacts with ATN1 (via its N-terminus); the interaction enhances the transcriptional repression.
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for RUNX1T1 Gene

Proteomics data for RUNX1T1 Gene at MOPED

Post-translational modifications for RUNX1T1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RUNX1T1 (RUNX1T1)

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.
  • 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).

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 --
GO:0003714 transcription corepressor activity TAS 23251453
GO:0005515 protein binding IPI 10973986
GO:0042802 identical protein binding IPI 16616331
genes like me logo Genes that share ontologies with RUNX1T1: view
genes like me logo Genes that share phenotypes with RUNX1T1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RUNX1T1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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
nucleus 5
mitochondrion 4
cytosol 2
extracellular 2

Gene Ontology (GO) - Cellular Components for RUNX1T1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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 --
GO:0045444 fat cell differentiation --
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
Zinc Approved Pharma 1404
proline Nutra 20
serine Nutra 420
threonine Nutra 16

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Oligonucleotide
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RUNX1T1

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 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).

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

In Situ Assay 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
dog
(Canis familiaris)
Mammalia RUNX1T1 35
  • 93.01 (n)
  • 97.73 (a)
RUNX1T1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Runx1t1 35
  • 91.9 (n)
  • 99.13 (a)
Runx1t1 16
Runx1t1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RUNX1T1 35
  • 99.7 (n)
  • 100 (a)
RUNX1T1 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Runx1t1 35
  • 91.83 (n)
  • 98.96 (a)
cow
(Bos Taurus)
Mammalia RUNX1T1 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RUNX1T1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RUNX1T1 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves RUNX1T1 35
  • 89.29 (n)
  • 96.87 (a)
RUNX1T1 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RUNX1T1 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia runx1t1 35
  • 85.24 (n)
  • 96.37 (a)
zebrafish
(Danio rerio)
Actinopterygii runx1t1 35
  • 78.51 (n)
  • 91.64 (a)
wufj53h11 35
runx1t1 36
  • 89 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta nvy 36
  • 25 (a)
OneToMany
Species with no ortholog for RUNX1T1:
  • 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

Paralogs for RUNX1T1 Gene

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

Variants for RUNX1T1 Gene

Sequence variations from dbSNP and Humsavar for RUNX1T1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs14904 -- 91,959,955(-) CTCCT(A/C)CCTGT utr-variant-3-prime, downstream-variant-500B
rs720444 -- 92,086,696(-) TGGGA(A/C)TCACT intron-variant
rs729816 -- 92,100,652(-) CCAAT(A/G)GTAAT upstream-variant-2KB, intron-variant
rs734113 -- 92,047,867(-) TGGGT(A/G)GATAA intron-variant
rs746142 -- 92,048,338(+) TGCAA(C/T)GTGAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv891193 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
RUNX1T1
Human Gene Mutation Database (HGMD)
RUNX1T1

PCR Panel Products

  • Copy Number PCR Panels: for RUNX1T1

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

Disorders for RUNX1T1 Gene

MalaCards: The human disease database

(9) 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
  • myeloid leukemia, nos, without mention of remission
lymphoid leukemia
central nervous system leukemia
  • leukemia of the cns
orbital cancer
  • orbital tumor
- elite association

UniProtKB/Swiss-Prot

MTG8_HUMAN
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving RUNX1T1 is a cause of acute myeloid leukemia (AML-M2). Translocation t(8;21)(q22;q22) with RUNX1/AML1.

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. CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family. (PMID: 9790752) Calabi F. … Cilli V. (Genomics 1998) 2 23 67
  2. Interaction of MTG family proteins with NEUROG2 and ASCL1 in the developing nervous system. (PMID: 20214951) Aaker J.D. … Koyano-Nakagawa N. (Neurosci. Lett. 2010) 23 67
  3. t(8;21)(q22;q22) Translocation involving AML1 and ETO in B lymphoblastic leukemia [corrected]. (PMID: 19896694) Wang H.Y. … Tirado C.A. (Hum. Pathol. 2010) 23 67
  4. Transforming activity of AML1-ETO is independent of CBFbeta and ETO interaction but requires formation of homo-oligomeric complexes. (PMID: 19202074) Kwok C. … So C.W. (Proc. Natl. Acad. Sci. U.S.A. 2009) 23 67
  5. RUNX1/AML1 DNA-binding domain and ETO/MTG8 NHR2-dimerization domain are critical to AML1-ETO9a leukemogenesis. (PMID: 19036704) Yan M. … Zhang D.E. (Blood 2009) 23 67

Products for RUNX1T1 Gene

Sources for RUNX1T1 Gene

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