• Gene id: 862

Gene Summary

• Gene Symbol: RUNX1T1   Gene   UCSC   Ensembl
• Aliases: AML1-MTG8, AML1T1, CBFA2T1, CDR, ETO, MTG8, ZMYND2
• Gene name: RUNX1 partner transcriptional co-repressor 1
• Alternate names: protein CBFA2T1, RUNX1 translocation partner 1, acute myelogenous leukemia 1 translocation 1, cyclin-D related, core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related, eight twenty one protein, myeloid translocation gene on 8q2,
• Gene location: 8q21.3 (92103450: 91954966)     Exons: 20     NC_000008.11
• Gene summary(Entrez): 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 fre
• OMIM: 133435

SNPs

rs879253743

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.100975538C>A
NC_000002.12   g.100975538C>G
NC_000002.11   g.101592000C>A
NC_000002.11   g.101592000C>G
NG_023259.1   g.160388C>A
NG_023259.1   g.160388C>G
NM_002518.4   c.1363C>A
NM_002518.4   c.1363C>G
NM_002518.3   c.1363C>A
NM_002518.3   c.1363C>G
XM  

Protein Summary

• Protein general information: Q06455  
  • Name: Protein CBFA2T1 (Cyclin D related protein) (Eight twenty one protein) (Protein ETO) (Protein MTG8) (Zinc finger MYND domain containing protein 2)
  • Length: 604  
  • Mass: 67566
  • Tissue specificity: Most abundantly expressed in brain. Lower levels in lung, heart, testis and ovary.
• Sequence:

  MISVKRNTWRALSLVIGDCRKKGNFEYCQDRTEKHSTMPDSPVDVKTQSRLTPPTMPPPPTTQGAPRTSSFTPTT
  LTNGTSHSPTALNGAPSPPNGFSNGPSSSSSSSLANQQLPPACGARQLSKLKRFLTTLQQFGNDISPEIGERVRT
  LVLGLVNSTLTIEEFHSKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARLAKQNPAQYLAQHEQLLLDASTTS
  PVDSSELLLDVNENGKRRTPDRTKENGFDREPLHSEHPSKRPCTISPGQRYSPNNGLSYQPNGLPHPTPPPPQHY
  RLDDMAIAHHYRDSYRHPSHRDLRDRNRPMGLHGTRQEEMIDHRLTDREWAEEWKHLDHLLNCIMDMVEKTRRSL
  TVLRRCQEADREELNYWIRRYSDAEDLKKGGGSSSSHSRQQSPVNPDPVALDAHREFLHRPASGYVPEEIWKKAE
  EAVNEVKRQAMTELQKAVSEAERKAHDMITTERAKMERTVAEAKRQAAEDALAVINQQEDSSESCWNCGRKASET
  CSGCNTARYCGSFCQHKDWEKHHHICGQTLQAQQQGDTPAVSSSVTPNSGAGSPMDTPPAATPRSTTPGTPSTIE
  TTPR

• Structural information:
  • Protein Domains: (120..21-)
    (/note="TAFH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00440"-)
  • Interpro: IPR013290  IPR013289  IPR014896  IPR037249  IPR003894   IPR002893  
  • Prosite: PS51119 PS01360 PS50865
  • PDB: 1WQ6 2DJ8 2H7B 2KNH 2KYG 2OD1 2ODD 2PP4 4JOL
  • PDBsum: 1WQ6 2DJ8 2H7B 2KNH 2KYG 2OD1 2ODD 2PP4 4JOL
  • DIP: 29401
  • STRING: ENSP00000402257
• Other Databases: GeneCards:  RUNX1T1  Malacards:  RUNX1T1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003714	transcription corepressor activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045599	negative regulation of fat cell differentiation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003714	transcription corepressor activity	TAS	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0003714	transcription corepressor activity	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016363	nuclear matrix	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05202	Transcriptional misregulation in cancer
hsa05221	Acute myeloid leukemia

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)