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    RUNX1T1 RUNX1 partner transcriptional co-repressor 1 [ Homo sapiens (human) ]

    Gene ID: 862, updated on 4-Jan-2025

    Summary

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    Official Symbol
    RUNX1T1provided by HGNC
    Official Full Name
    RUNX1 partner transcriptional co-repressor 1provided by HGNC
    Primary source
    HGNC:HGNC:1535
    See related
    Ensembl:ENSG00000079102 MIM:133435; AllianceGenome:HGNC:1535
    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
    CDR; ETO; MTG8; AML1T1; ZMYND2; CBFA2T1; AML1-MTG8
    Summary
    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]
    Expression
    Ubiquitous expression in endometrium (RPKM 1.9), brain (RPKM 1.3) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RUNX1T1 in Genome Data Viewer
    Location:
    8q21.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (91954967..92103385, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (93080060..93228496, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (92967195..93115613, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene proline rich 13 pseudogene 7 Neighboring gene mitochondrial ribosomal protein S16 pseudogene 1 Neighboring gene VISTA enhancer hs1658 Neighboring gene VISTA enhancer hs1599 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:93083931-93084430 Neighboring gene Sharpr-MPRA regulatory region 8891 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:93143901-93144445 Neighboring gene ribosomal protein S26 pseudogene 10 Neighboring gene uncharacterized LOC105375638 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:93415274-93416473

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Structure and expression of the human MTG8/ETO gene. Wolford JK, et al. Gene, 1998 May 28. PMID 9661669
    2. RUNX1T1: a novel predictor of liver metastasis in primary pancreatic endocrine neoplasms. Nasir A, et al. Pancreas, 2011 May. PMID 21499216, Free PMC Article
    3. Diagnosis and monitoring of AML1-MTG8 (ETO)-positive acute myeloid leukemia by qualitative and real-time quantitative RT-PCR. Tobal K, et al. Methods Mol Med, 2006. PMID 16502583
    4. Assessing the miRNA sponge potential of RUNX1T1 in t(8;21) acute myeloid leukemia. Junge A, et al. Gene, 2017 Jun 5. PMID 28322996
    5. RUNX1T1/MTG8/ETO gene expression status in human t(8;21)(q22;q22)-positive acute myeloid leukemia cells. Migas AA, et al. Leuk Res, 2014 Sep. PMID 24976338

    See all (206) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mutational cooperativity of RUNX1::RUNX1T1 isoform 9a and oncogenic NRAS in zebrafish myeloid leukaemia.
      Title: Mutational cooperativity of RUNX1::RUNX1T1 isoform 9a and oncogenic NRAS in zebrafish myeloid leukaemia.
    2. The transcriptional co-repressor Runx1t1 is essential for MYCN-driven neuroblastoma tumorigenesis.
      Title: The transcriptional co-repressor Runx1t1 is essential for MYCN-driven neuroblastoma tumorigenesis.
    3. CNS erythroblastic sarcoma: a potential emerging pediatric tumor type characterized by NFIA::RUNX1T1/3 fusions.
      Title: CNS erythroblastic sarcoma: a potential emerging pediatric tumor type characterized by NFIA::RUNX1T1/3 fusions.
    4. Single-cell RNA-seq reveals novel immune-associated biomarkers for predicting prognosis in AML patients with RUNX1::RUNX1T1.
      Title: Single-cell RNA-seq reveals novel immune-associated biomarkers for predicting prognosis in AML patients with RUNX1::RUNX1T1.
    5. RUNX1/ETO regulates reactive oxygen species (ROS) levels in t(8,21) acute myeloid leukaemia via FLT3 and RAC1.
      Title: RUNX1/ETO regulates reactive oxygen species (ROS) levels in t(8,21) acute myeloid leukaemia via FLT3 and RAC1.
    6. MiR-210-3p accelerates tumor-relevant cell functions of endometrial carcinoma by repressing RUNX1T1.
      Title: MiR-210-3p accelerates tumor-relevant cell functions of endometrial carcinoma by repressing RUNX1T1.
    7. RUNX1T1 function in cell fate.
      Title: RUNX1T1 function in cell fate.
    8. Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Myeloid Leukemia with RUNX1::RUNX1T1.
      Title: Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Myeloid Leukemia with RUNX1::RUNX1T1.
    9. Leukemia associated RUNX1T1 gene reduced proliferation and invasiveness of glioblastoma cells.
      Title: Leukemia associated RUNX1T1 gene reduced proliferation and invasiveness of glioblastoma cells.
    10. RUNX1T1, a potential prognostic marker in breast cancer, is co-ordinately expressed with ERalpha, and regulated by estrogen receptor signalling in breast cancer cells.
      Title: RUNX1T1, a potential prognostic marker in breast cancer, is co-ordinately expressed with ERα, and regulated by estrogen receptor signalling in breast cancer cells.
    Submit: New GeneRIF Correction See all GeneRIFs (139)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC2796, FLJ33145, DKFZp564B213

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription corepressor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein CBFA2T1
    Names
    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 8q22
    runt related transcription factor 1; translocated to, 1 (cyclin D related)
    zinc finger MYND domain-containing protein 2

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_023272.3 RefSeqGene

      Range
      12997..153255
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001198625.2 → NP_001185554.1  protein CBFA2T1 isoform A

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) utilizes four alternate exons in the 5' UTR compared to variant 1. Variants 1, 5 and 6 all encode isoform A, also known as MTG8a.
      Source sequence(s)
      AC103680, AC104339, AF181450, AK312592, DA503204
      Consensus CDS
      CCDS47891.1
      UniProtKB/TrEMBL
      B2R6I9
      Related
      ENSP00000430728.1, ENST00000518844.5
      Conserved Domains (5) summary
      TIGR02794
      Location:365 → 476
      tolA_full; TolA protein
      pfam04094
      Location:440 → 577
      DUF390; Protein of unknown function (DUF390)
      pfam01753
      Location:488 → 524
      zf-MYND; MYND finger
      pfam07531
      Location:95 → 184
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:310 → 376
      NHR2; NHR2 domain like

    2. NM_001198626.2 → NP_001185555.1  protein CBFA2T1 isoform B

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) utilizes three alternate exons in the 5' UTR and coding region compared to variant 1. The resulting protein (isoform B, also known as MTG8b) has a longer and distinct N-terminus, compared to isoform A. Variants 2 and 7-12 all encode isoform B.
      Source sequence(s)
      AC103680, AC104339, BC067078, DA499596, DA776968
      Consensus CDS
      CCDS6256.1
      UniProtKB/Swiss-Prot
      B7Z4P4, E7EPN4, O14784, Q06455, Q06456, Q14873, Q16239, Q16346, Q16347, Q6IBL1, Q6NXH1, Q7Z4J5, Q92479, Q9BRZ0
      UniProtKB/TrEMBL
      B2R6I9
      Related
      ENSP00000430204.2, ENST00000519847.6
      Conserved Domains (4) summary
      COG1390
      Location:443 → 514
      NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
      pfam08788
      Location:337 → 403
      NHR2; NHR2 domain like
      pfam01753
      Location:515 → 551
      zf-MYND; MYND finger
      pfam07531
      Location:122 → 210
      TAFH; NHR1 homology to TAF

    3. NM_001198627.2 → NP_001185556.1  protein CBFA2T1 isoform B

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) utilizes four alternate exons in the 5' UTR and coding region compared to variant 1. The resulting protein (isoform B, also known as MTG8b) has a longer and distinct N-terminus, compared to isoform A. Variants 2 and 7-12 all encode isoform B.
      Source sequence(s)
      AC103680, AC104339, BC067078, DA503204, DA795825
      Consensus CDS
      CCDS6256.1
      UniProtKB/Swiss-Prot
      B7Z4P4, E7EPN4, O14784, Q06455, Q06456, Q14873, Q16239, Q16346, Q16347, Q6IBL1, Q6NXH1, Q7Z4J5, Q92479, Q9BRZ0
      UniProtKB/TrEMBL
      B2R6I9
      Related
      ENSP00000430080.2, ENST00000518954.6
      Conserved Domains (4) summary
      COG1390
      Location:443 → 514
      NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
      pfam08788
      Location:337 → 403
      NHR2; NHR2 domain like
      pfam01753
      Location:515 → 551
      zf-MYND; MYND finger
      pfam07531
      Location:122 → 210
      TAFH; NHR1 homology to TAF

    4. NM_001198628.2 → NP_001185557.1  protein CBFA2T1 isoform B

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) utilizes two alternate exons in the 5' UTR and coding region compared to variant 1. The resulting protein (isoform B, also known as MTG8b) has a longer and distinct N-terminus, compared to isoform A. Variants 2 and 7-12 all encode isoform B.
      Source sequence(s)
      AC103680, AC104339, BC067078, DA796892
      Consensus CDS
      CCDS6256.1
      UniProtKB/Swiss-Prot
      B7Z4P4, E7EPN4, O14784, Q06455, Q06456, Q14873, Q16239, Q16346, Q16347, Q6IBL1, Q6NXH1, Q7Z4J5, Q92479, Q9BRZ0
      UniProtKB/TrEMBL
      B2R6I9
      Conserved Domains (4) summary
      COG1390
      Location:443 → 514
      NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
      pfam08788
      Location:337 → 403
      NHR2; NHR2 domain like
      pfam01753
      Location:515 → 551
      zf-MYND; MYND finger
      pfam07531
      Location:122 → 210
      TAFH; NHR1 homology to TAF

    5. NM_001198629.2 → NP_001185558.1  protein CBFA2T1 isoform B

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) utilizes two alternate exons in the 5' UTR and coding region compared to variant 1. The resulting protein (isoform B, also known as MTG8b) has a longer and distinct N-terminus, compared to isoform A. Variants 2 and 7-12 all encode isoform B.
      Source sequence(s)
      AC103680, BC067078, DA774453
      Consensus CDS
      CCDS6256.1
      UniProtKB/Swiss-Prot
      B7Z4P4, E7EPN4, O14784, Q06455, Q06456, Q14873, Q16239, Q16346, Q16347, Q6IBL1, Q6NXH1, Q7Z4J5, Q92479, Q9BRZ0
      UniProtKB/TrEMBL
      B2R6I9
      Conserved Domains (4) summary
      COG1390
      Location:443 → 514
      NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
      pfam08788
      Location:337 → 403
      NHR2; NHR2 domain like
      pfam01753
      Location:515 → 551
      zf-MYND; MYND finger
      pfam07531
      Location:122 → 210
      TAFH; NHR1 homology to TAF

    6. NM_001198630.2 → NP_001185559.1  protein CBFA2T1 isoform B

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) utilizes three alternate exons in the 5' UTR and coding region compared to variant 1. The resulting protein (isoform B, also known as MTG8b) has a longer and distinct N-terminus, compared to isoform A. Variants 2 and 7-12 all encode isoform B.
      Source sequence(s)
      AC103680, BC067078, DA504975, DA770917
      Consensus CDS
      CCDS6256.1
      UniProtKB/Swiss-Prot
      B7Z4P4, E7EPN4, O14784, Q06455, Q06456, Q14873, Q16239, Q16346, Q16347, Q6IBL1, Q6NXH1, Q7Z4J5, Q92479, Q9BRZ0
      UniProtKB/TrEMBL
      B2R6I9
      Conserved Domains (4) summary
      COG1390
      Location:443 → 514
      NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
      pfam08788
      Location:337 → 403
      NHR2; NHR2 domain like
      pfam01753
      Location:515 → 551
      zf-MYND; MYND finger
      pfam07531
      Location:122 → 210
      TAFH; NHR1 homology to TAF

    7. NM_001198631.2 → NP_001185560.1  protein CBFA2T1 isoform B

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) utilizes two alternate exons in the 5' UTR and coding region compared to variant 1. The resulting protein (isoform B, also known as MTG8b) has a longer and distinct N-terminus, compared to isoform A. Variants 2 and 7-12 all encode isoform B.
      Source sequence(s)
      AC103680, BC067078, DA777240
      Consensus CDS
      CCDS6256.1
      UniProtKB/Swiss-Prot
      B7Z4P4, E7EPN4, O14784, Q06455, Q06456, Q14873, Q16239, Q16346, Q16347, Q6IBL1, Q6NXH1, Q7Z4J5, Q92479, Q9BRZ0
      UniProtKB/TrEMBL
      B2R6I9
      Related
      ENSP00000429506.2, ENST00000517919.6
      Conserved Domains (4) summary
      COG1390
      Location:443 → 514
      NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
      pfam08788
      Location:337 → 403
      NHR2; NHR2 domain like
      pfam01753
      Location:515 → 551
      zf-MYND; MYND finger
      pfam07531
      Location:122 → 210
      TAFH; NHR1 homology to TAF

    8. NM_001198632.2 → NP_001185561.1  protein CBFA2T1 isoform A

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) utilizes an alternate exon in the 5' UTR compared to variant 1. Variants 1, 5 and 6 all encode isoform A, also known as MTG8a.
      Source sequence(s)
      AC103680, BC067078, DA500281
      Consensus CDS
      CCDS47891.1
      UniProtKB/TrEMBL
      B2R6I9
      Related
      ENSP00000429062.2, ENST00000518317.6
      Conserved Domains (5) summary
      TIGR02794
      Location:365 → 476
      tolA_full; TolA protein
      pfam04094
      Location:440 → 577
      DUF390; Protein of unknown function (DUF390)
      pfam01753
      Location:488 → 524
      zf-MYND; MYND finger
      pfam07531
      Location:95 → 184
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:310 → 376
      NHR2; NHR2 domain like

    9. NM_001198633.2 → NP_001185562.1  protein CBFA2T1 isoform D

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) utilizes an alternate exon in the 5' UTR and coding region compared to variant 1. The resulting protein (isoform D) has a longer and distinct N-terminus, compared to isoform A.
      Source sequence(s)
      AC103680, AC104339, BC067078, DA779230, DA787376
      Consensus CDS
      CCDS75767.1
      UniProtKB/TrEMBL
      A0A087WWT6, B2R6I9, E5RH72
      Related
      ENSP00000429864.2, ENST00000518832.2
      Conserved Domains (5) summary
      TIGR02794
      Location:372 → 483
      tolA_full; TolA protein
      pfam04094
      Location:447 → 584
      DUF390; Protein of unknown function (DUF390)
      pfam01753
      Location:495 → 531
      zf-MYND; MYND finger
      pfam07531
      Location:102 → 191
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:317 → 383
      NHR2; NHR2 domain like

    10. NM_001198634.2 → NP_001185563.1  protein CBFA2T1 isoform E

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) utilizes an alternate exon in the 5' UTR and coding region compared to variant 1. The resulting protein (isoform E) has a longer and distinct N-terminus, compared to isoform A.
      Source sequence(s)
      AC103680, AF181450, AK297616
      Consensus CDS
      CCDS56544.1
      UniProtKB/TrEMBL
      B2R6I9
      Related
      ENSP00000428742.2, ENST00000520724.5
      Conserved Domains (5) summary
      TIGR02794
      Location:403 → 514
      tolA_full; TolA protein
      pfam01753
      Location:526 → 562
      zf-MYND; MYND finger
      pfam07531
      Location:133 → 219
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:348 → 414
      NHR2; NHR2 domain like
      cl25642
      Location:478 → 615
      DUF390; Protein of unknown function (DUF390)

    11. NM_001198679.3 → NP_001185608.1  protein CBFA2T1 isoform F

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15) utilizes two alternate exons in the 5' UTR and coding region compared to variant 1. The resulting protein (isoform F) has a longer and distinct N-terminus, compared to isoform A.
      Source sequence(s)
      AC103680, AC104339, AF181450
      Consensus CDS
      CCDS75766.1
      UniProtKB/TrEMBL
      A0A0A0MSU1, B2R6I9
      Related
      ENSP00000402257.3, ENST00000436581.7
      Conserved Domains (5) summary
      TIGR02794
      Location:451 → 562
      tolA_full; TolA protein
      pfam01753
      Location:574 → 610
      zf-MYND; MYND finger
      pfam07531
      Location:181 → 267
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:396 → 462
      NHR2; NHR2 domain like
      cl25642
      Location:526 → 663
      DUF390; Protein of unknown function (DUF390)

    12. NM_001395209.1 → NP_001382138.1  protein CBFA2T1 isoform G

      Status: REVIEWED

      Source sequence(s)
      AC103680, AC104339, AF181450
      UniProtKB/TrEMBL
      B2R6I9
      Conserved Domains (4) summary
      COG1390
      Location:471 → 542
      NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
      pfam08788
      Location:365 → 431
      NHR2; NHR2 domain like
      pfam01753
      Location:543 → 579
      zf-MYND; MYND finger
      pfam07531
      Location:150 → 238
      TAFH; NHR1 homology to TAF

    13. NM_004349.4 → NP_004340.1  protein CBFA2T1 isoform A

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform A. Variants 1, 5 and 6 all encode isoform A, also known as MTG8a.
      Source sequence(s)
      AC103680, D43638
      Consensus CDS
      CCDS47891.1
      UniProtKB/TrEMBL
      B2R6I9
      Related
      ENSP00000379520.1, ENST00000396218.5
      Conserved Domains (5) summary
      TIGR02794
      Location:365 → 476
      tolA_full; TolA protein
      pfam04094
      Location:440 → 577
      DUF390; Protein of unknown function (DUF390)
      pfam01753
      Location:488 → 524
      zf-MYND; MYND finger
      pfam07531
      Location:95 → 184
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:310 → 376
      NHR2; NHR2 domain like

    14. NM_175634.3 → NP_783552.1  protein CBFA2T1 isoform B

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) utilizes two alternate exons in the 5' UTR and coding region compared to variant 1. The resulting protein (isoform B, also known as MTG8b) has a distinct N-terminus compared to isoform A. Variants 2 and 7-12 all encode isoform B.
      Source sequence(s)
      AC103680, AC104339, D14821, DA787376
      Consensus CDS
      CCDS6256.1
      UniProtKB/Swiss-Prot
      B7Z4P4, E7EPN4, O14784, Q06455, Q06456, Q14873, Q16239, Q16346, Q16347, Q6IBL1, Q6NXH1, Q7Z4J5, Q92479, Q9BRZ0
      UniProtKB/TrEMBL
      B2R6I9
      Related
      ENSP00000428543.1, ENST00000523629.7
      Conserved Domains (4) summary
      COG1390
      Location:443 → 514
      NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
      pfam08788
      Location:337 → 403
      NHR2; NHR2 domain like
      pfam01753
      Location:515 → 551
      zf-MYND; MYND finger
      pfam07531
      Location:122 → 210
      TAFH; NHR1 homology to TAF

    15. NM_175635.3 → NP_783553.1  protein CBFA2T1 isoform C

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) utilizes an alternate exon in the 5' UTR and coding region compared to variant 1, resulting in translation initiation from a downstream ATG. The resulting protein (isoform C, also known as MTG8c) has a shorter N-terminus compared to isoform A. Variants 3 and 4 both encode isoform C.
      Source sequence(s)
      AC103680, BC067078, DA770917
      Consensus CDS
      CCDS6257.1
      UniProtKB/TrEMBL
      B2R6I9, W8FW32
      Related
      ENSP00000353504.2, ENST00000360348.6
      Conserved Domains (5) summary
      TIGR02794
      Location:355 → 466
      tolA_full; TolA protein
      pfam04094
      Location:430 → 567
      DUF390; Protein of unknown function (DUF390)
      pfam01753
      Location:478 → 514
      zf-MYND; MYND finger
      pfam07531
      Location:85 → 174
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:300 → 366
      NHR2; NHR2 domain like

    16. NM_175636.2 → NP_783554.1  protein CBFA2T1 isoform C

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) utilizes an alternate exon in the 5' UTR and coding region compared to variant 1, resulting in translation initiation from a downstream ATG. The resulting protein (isoform C, also known as MTG8c) has a shorter N-terminus compared to isoform A. Variants 3 and 4 both encode isoform C.
      Source sequence(s)
      AA506749, AC103680, D14289
      Consensus CDS
      CCDS6257.1
      UniProtKB/TrEMBL
      B2R6I9, W8FW32
      Related
      ENSP00000390137.2, ENST00000422361.6
      Conserved Domains (5) summary
      TIGR02794
      Location:355 → 466
      tolA_full; TolA protein
      pfam04094
      Location:430 → 567
      DUF390; Protein of unknown function (DUF390)
      pfam01753
      Location:478 → 514
      zf-MYND; MYND finger
      pfam07531
      Location:85 → 174
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:300 → 366
      NHR2; NHR2 domain like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      91954967..92103385 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422373.1 → XP_047278329.1  protein CBFA2T1 isoform X1

      UniProtKB/Swiss-Prot
      B7Z4P4, E7EPN4, O14784, Q06455, Q06456, Q14873, Q16239, Q16346, Q16347, Q6IBL1, Q6NXH1, Q7Z4J5, Q92479, Q9BRZ0
      UniProtKB/TrEMBL
      B2R6I9

    2. XM_024447318.2 → XP_024303086.1  protein CBFA2T1 isoform X2

      UniProtKB/TrEMBL
      B2R6I9, W8FW32
      Conserved Domains (5) summary
      TIGR02794
      Location:355 → 466
      tolA_full; TolA protein
      pfam04094
      Location:430 → 567
      DUF390; Protein of unknown function (DUF390)
      pfam01753
      Location:478 → 514
      zf-MYND; MYND finger
      pfam07531
      Location:85 → 174
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:300 → 366
      NHR2; NHR2 domain like

    3. XM_011517351.3 → XP_011515653.1  protein CBFA2T1 isoform X1

      UniProtKB/Swiss-Prot
      B7Z4P4, E7EPN4, O14784, Q06455, Q06456, Q14873, Q16239, Q16346, Q16347, Q6IBL1, Q6NXH1, Q7Z4J5, Q92479, Q9BRZ0
      UniProtKB/TrEMBL
      B2R6I9
      Conserved Domains (4) summary
      COG1390
      Location:443 → 514
      NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
      pfam08788
      Location:337 → 403
      NHR2; NHR2 domain like
      pfam01753
      Location:515 → 551
      zf-MYND; MYND finger
      pfam07531
      Location:122 → 210
      TAFH; NHR1 homology to TAF

    4. XM_017013936.2 → XP_016869425.1  protein CBFA2T1 isoform X2

      UniProtKB/TrEMBL
      B2R6I9, W8FW32
      Conserved Domains (5) summary
      TIGR02794
      Location:355 → 466
      tolA_full; TolA protein
      pfam04094
      Location:430 → 567
      DUF390; Protein of unknown function (DUF390)
      pfam01753
      Location:478 → 514
      zf-MYND; MYND finger
      pfam07531
      Location:85 → 174
      TAFH; NHR1 homology to TAF
      pfam08788
      Location:300 → 366
      NHR2; NHR2 domain like

    5. XM_017013940.2 → XP_016869429.1  protein CBFA2T1 isoform X6

    6. XM_017013941.2 → XP_016869430.1  protein CBFA2T1 isoform X7

    7. XM_017013939.2 → XP_016869428.1  protein CBFA2T1 isoform X6

    8. XM_047422374.1 → XP_047278330.1  protein CBFA2T1 isoform X4

      UniProtKB/TrEMBL
      W8FP57

    9. XM_017013938.2 → XP_016869427.1  protein CBFA2T1 isoform X3

      UniProtKB/TrEMBL
      W8FP57

    10. XM_047422375.1 → XP_047278331.1  protein CBFA2T1 isoform X5

      UniProtKB/TrEMBL
      Q71VC3, W8FP57

    RNA

    1. XR_007060758.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      93080060..93228496 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361413.1 → XP_054217388.1  protein CBFA2T1 isoform X1

      UniProtKB/Swiss-Prot
      B7Z4P4, E7EPN4, O14784, Q06455, Q06456, Q14873, Q16239, Q16346, Q16347, Q6IBL1, Q6NXH1, Q7Z4J5, Q92479, Q9BRZ0
      UniProtKB/TrEMBL
      B2R6I9

    2. XM_054361416.1 → XP_054217391.1  protein CBFA2T1 isoform X2

      UniProtKB/TrEMBL
      B2R6I9, W8FW32

    3. XM_054361414.1 → XP_054217389.1  protein CBFA2T1 isoform X1

      UniProtKB/Swiss-Prot
      B7Z4P4, E7EPN4, O14784, Q06455, Q06456, Q14873, Q16239, Q16346, Q16347, Q6IBL1, Q6NXH1, Q7Z4J5, Q92479, Q9BRZ0
      UniProtKB/TrEMBL
      B2R6I9

    4. XM_054361415.1 → XP_054217390.1  protein CBFA2T1 isoform X2

      UniProtKB/TrEMBL
      B2R6I9, W8FW32

    5. XM_054361421.1 → XP_054217396.1  protein CBFA2T1 isoform X6

    6. XM_054361422.1 → XP_054217397.1  protein CBFA2T1 isoform X7

    7. XM_054361420.1 → XP_054217395.1  protein CBFA2T1 isoform X6

    8. XM_054361418.1 → XP_054217393.1  protein CBFA2T1 isoform X4

      UniProtKB/TrEMBL
      W8FP57

    9. XM_054361417.1 → XP_054217392.1  protein CBFA2T1 isoform X3

      UniProtKB/TrEMBL
      W8FP57

    10. XM_054361419.1 → XP_054217394.1  protein CBFA2T1 isoform X5

      UniProtKB/TrEMBL
      Q71VC3, W8FP57

    RNA

    1. XR_008487887.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q06455.2 GenPept UniProtKB/Swiss-Prot:Q06455

    Gene LinkOut

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