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

Gene ID: 862, updated on 3-Apr-2024

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_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (91954967..92103385, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (93080060..93228496, complement)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. RUNX1T1 function in cell fate. Hu N, et al. Stem Cell Res Ther, 2022 Jul 28. PMID 35902872, Free PMC Article
  2. Identification of RUNX1T1 as a potential epigenetic modifier in small-cell lung cancer. He T, et al. Mol Oncol, 2021 Jan. PMID 33084222, Free PMC Article
  3. LncRNA RUNX1-IT1 which is downregulated by hypoxia-driven histone deacetylase 3 represses proliferation and cancer stem-like properties in hepatocellular carcinoma cells. Sun L, et al. Cell Death Dis, 2020 Feb 5. PMID 32024815, Free PMC Article
  4. Long non-coding RNA RUNX1-IT1 plays a tumour-suppressive role in colorectal cancer by inhibiting cell proliferation and migration. Shi J, et al. Cell Biochem Funct, 2019 Jan. PMID 30499136
  5. Assessing the miRNA sponge potential of RUNX1T1 in t(8;21) acute myeloid leukemia. Junge A, et al. Gene, 2017 Jun 5. PMID 28322996

See all (200) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. RUNX1T1 function in cell fate.
    Title: RUNX1T1 function in cell fate.
  6. 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.
  7. Leukemia associated RUNX1T1 gene reduced proliferation and invasiveness of glioblastoma cells.
    Title: Leukemia associated RUNX1T1 gene reduced proliferation and invasiveness of glioblastoma cells.
  8. 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.
  9. AML1/ETO and its function as a regulator of gene transcription via epigenetic mechanisms.
    Title: AML1/ETO and its function as a regulator of gene transcription via epigenetic mechanisms.
  10. Droplet digital polymerase chain reaction assay for the detection of the minor clone of KIT D816V in paediatric acute myeloid leukaemia especially showing RUNX1-RUNX1T1 transcripts.
    Title: Droplet digital polymerase chain reaction assay for the detection of the minor clone of KIT D816V in paediatric acute myeloid leukaemia especially showing RUNX1-RUNX1T1 transcripts.
Submit: New GeneRIF Correction See all GeneRIFs (137)

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)

Genotypes

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

    See identical proteins and their annotated locations for NP_001185554.1

    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

    See identical proteins and their annotated locations for NP_001185555.1

    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

    See identical proteins and their annotated locations for NP_001185556.1

    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

    See identical proteins and their annotated locations for NP_001185557.1

    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

    See identical proteins and their annotated locations for NP_001185558.1

    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

    See identical proteins and their annotated locations for NP_001185559.1

    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

    See identical proteins and their annotated locations for NP_001185560.1

    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

    See identical proteins and their annotated locations for NP_001185561.1

    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

    See identical proteins and their annotated locations for NP_001185562.1

    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

    See identical proteins and their annotated locations for NP_001185563.1

    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

    See identical proteins and their annotated locations for NP_001185608.1

    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

    See identical proteins and their annotated locations for NP_004340.1

    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

    See identical proteins and their annotated locations for NP_783552.1

    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

    See identical proteins and their annotated locations for NP_783553.1

    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

    See identical proteins and their annotated locations for NP_783554.1

    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_2023_10

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

  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

    See identical proteins and their annotated locations for XP_011515653.1

    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

  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

  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

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

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

    UniProtKB/TrEMBL
    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

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

    UniProtKB/TrEMBL
    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

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

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

    UniProtKB/TrEMBL
    Q71VC3

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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