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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
  • CBFA2T1 3 4 6
  • AML1T1 3 4 6
  • ETO 3 4 6
  • 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
  • ZMYND2 3 4
  • MTG8 3 4
  • CDR 3 4
  • Acute Myelogenous Leukemia 1 Translocation 1, Cyclin-D Related 3
  • Myeloid Translocation Gene On 8q22 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 R1t1-7a52 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 CBFA2T1 3
  • Protein MTG8 4
  • Protein ETO 4

External Ids for RUNX1T1 Gene

Previous Symbols for RUNX1T1 Gene

  • AML1T1
  • CBFA2T1

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 sequence-specific DNA binding transcription factor activity and identical protein binding. An important paralog of this gene is CBFA2T3.

UniProtKB/Swiss-Prot for RUNX1T1 Gene

  • Transcription regulator that excerts its function by binding to histone deacetylases and transcription factors. Can repress transactivation mediated by TCF12.

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

Genomic Location for RUNX1T1 Gene

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:
Genomic Location for RUNX1T1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RUNX1T1 Gene

Regulatory Elements for RUNX1T1 Gene

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

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

No data available for DME Specific Peptides for RUNX1T1 Gene

Domains for RUNX1T1 Gene

Gene Families for RUNX1T1 Gene

HGNC:
  • ZMYND :Zinc fingers, MYND-type

Protein Domains for RUNX1T1 Gene

UniProtKB/Swiss-Prot:

MTG8_HUMAN
Domain:
  • The TAFH domain mediates interaction with transcription regulators.:
    • Q06455
  • Contains 1 TAFH (NHR1) domain.:
    • Q06455
Family:
  • Belongs to the CBFA2T family.:
    • Q06455
Similarity:
  • Contains 1 MYND-type zinc finger.:
    • Q06455
genes like me logo Genes that share domains with RUNX1T1: view

Function for RUNX1T1 Gene

Molecular function for RUNX1T1 Gene

UniProtKB/Swiss-Prot Function: Transcription regulator that excerts its function by binding to histone deacetylases and transcription factors. Can repress transactivation mediated by TCF12.

Gene Ontology (GO) - Molecular Function for RUNX1T1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0003714 transcription corepressor activity IBA --
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

miRNA for RUNX1T1 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 3
extracellular 2
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RUNX1T1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
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 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 --
GO:0045444 fat cell differentiation --
GO:0045892 negative regulation of transcription, DNA-templated IBA --
genes like me logo Genes that share ontologies with RUNX1T1: view

Compounds for RUNX1T1 Gene

(5) Novoseek inferred chemical compound relationships for RUNX1T1 Gene

Compound -log(P) Hits PubMed IDs
zinc 32.2 7
proline 3.33 1
oligonucleotide 0 1
threonine 0 3
serine 0 3
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:

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 (6.0) and Brain - Cerebellum (4.6).

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 expressions with RUNX1T1: view

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 36
  • 99.7 (n)
  • 100 (a)
RUNX1T1 37
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RUNX1T1 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RUNX1T1 36
  • 93.01 (n)
  • 97.73 (a)
RUNX1T1 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Runx1t1 36
  • 91.9 (n)
  • 99.13 (a)
Runx1t1 16
Runx1t1 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RUNX1T1 37
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RUNX1T1 37
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Runx1t1 36
  • 91.83 (n)
  • 98.96 (a)
chicken
(Gallus gallus)
Aves RUNX1T1 36
  • 89.29 (n)
  • 96.87 (a)
RUNX1T1 37
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RUNX1T1 37
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia runx1t1 36
  • 85.24 (n)
  • 96.37 (a)
zebrafish
(Danio rerio)
Actinopterygii runx1t1 36
  • 78.51 (n)
  • 91.64 (a)
runx1t1 37
  • 89 (a)
OneToOne
wufj53h11 36
fruit fly
(Drosophila melanogaster)
Insecta nvy 37
  • 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
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

Relevant External Links for RUNX1T1 Gene

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

Disorders for RUNX1T1 Gene

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.
  • 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.

(1) University of Copenhagen DISEASES for RUNX1T1 Gene

(11) Novoseek inferred disease relationships for RUNX1T1 Gene

Disease -log(P) Hits PubMed IDs
leukemogenesis 78.5 2
minimal residual disease 64 1
leukemia 62.5 9
chromosomal aberrations 55.7 2
myeloid leukemia 54.6 2

Relevant External Links for RUNX1T1

Genetic Association Database (GAD)
RUNX1T1
genes like me logo Genes that share disorders with RUNX1T1: view

Publications for RUNX1T1 Gene

  1. Transcriptionally active chimeric gene derived from the fusion of the AML1 gene and a novel gene on chromosome 8 in t(8;21) leukemic cells. (PMID: 1423235) Nisson P.E. … Sacchi N. (Cancer Genet. Cytogenet. 1992) 3 4 23
  2. 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 23
  3. 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 23
  4. Structure and expression of the human MTG8/ETO gene. (PMID: 9661669) Wolford J.K. … Prochazka M. (Gene 1998) 3 4 23
  5. CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family. (PMID: 9790752) Calabi F. … Cilli V. (Genomics 1998) 2 3 23

Products for RUNX1T1 Gene

Sources for RUNX1T1 Gene

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