RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related) [Homo sapiens] - Gene

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Summary

Official Symbol: RUNX1T1provided by HGNC
Official Full Name: runt-related transcription factor 1; translocated to, 1 (cyclin D-related)provided by HGNC
Primary source: HGNC:1535
See related: Ensembl:ENSG00000079102; HPRD:00590; MIM:133435; Vega:OTTHUMG00000164066
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; MGC2796; FLJ33145; DKFZp564B213
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]

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Genomic context

Location :: 8q22

Sequence :: Chromosome: 8; NC_000008.10 (92967195..93115454, complement)

See RUNX1T1 in Epigenomics, MapViewer

Chromosome 8 - NC_000008.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

In this review, we detail the structural features, functions, and models used to study both RUNX1 and RUNX1-ETO in hematopoiesis over the past two decades
Title: RUNX1 and RUNX1-ETO: roles in hematopoiesis and leukemogenesis.
Submicroscopic deletion of RUNX1T1 gene confirmed by high-resolution microarray in acute myeloid leukemia with RUNX1/RUNX1T1 rearrangement
Title: Submicroscopic deletion of RUNX1T1 gene confirmed by high-resolution microarray in acute myeloid leukemia with RUNX1/RUNX1T1 rearrangement.
RUNX1T1 point mutation may be rare and passenger mutations in acute leukemias, lung and breast cancers
Title: Mutational analysis of RUNX1T1 gene in acute leukemias, breast and lung carcinomas.
SMAD4 knockdown accelerated this re-silencing process, suggesting that normal TGF-beta signaling is essential for the maintenance of RunX1T1 expression
Title: Aberrant TGFβ/SMAD4 signaling contributes to epigenetic silencing of a putative tumor suppressor, RunX1T1 in ovarian cancer.
study found AML1-ETO is acetylated by the transcriptional coactivator p300 in leukemia cells isolated from t(8;21) AML patients, and this acetylation is essential for its self-renewal-promoting effects in cord blood CD34(+) cells and its leukemogenicity
Title: The leukemogenicity of AML1-ETO is dependent on site-specific lysine acetylation.
Data show that low RUNX1T1 expression was highly associated with hepatic metastases.
Title: RUNX1T1: a novel predictor of liver metastasis in primary pancreatic endocrine neoplasms.
Elevated levels of AES mRNA and protein were confirmed in AML1/ETO-expressing leukemia cells, as well as in other acute myeloid leukemia specimens.
Title: AML1/ETO induces self-renewal in hematopoietic progenitor cells via the Groucho-related amino-terminal AES protein.
N-Ras(G12D) induces features of stepwise transformation in preleukemic umbilical cord blood cultures expressing the AML1-ETO fusion gene.
Title: N-Ras(G12D) induces features of stepwise transformation in preleukemic human umbilical cord blood cultures expressing the AML1-ETO fusion gene.
Expression of AML1-ETO caused an expansion of hematopoietic precursors in Drosophila, which expressed high levels of reactive oxygen species
Title: Genetic manipulation of AML1-ETO-induced expansion of hematopoietic precursors in a Drosophila model.
CalpainB is required for AML1-ETO-induced blood cell disorders in Drosophila.[AML1-ETO]
Title: A Drosophila model identifies calpains as modulators of the human leukemogenic fusion protein AML1-ETO.

Submit: New GeneRIF Correction See all (66)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_004340.1	NP_005084.1	CBFA2T2	BIND	PubMed	ETO interacts with MTGR1.
NP_004340.1	NP_004955.2	HDAC1	BIND	PubMed	ETO interacts with HDAC1.
NP_004340.1	NP_003874.2	HDAC3	BIND	PubMed	ETO interacts with HDAC3.
NP_004340.1	NP_006302.2	NCOR1	BIND	PubMed	ETO interacts with N-CoR.
NP_004340.1	NP_056292.1	SIN3A	BIND	PubMed	ETO interacts with Sin3A.
NP_004340.1	NP_003196.1	TCF12	BIND	PubMed	ETO interacts with HEBb.
NP_004340.1	NP_996919.1	TCF12	BIND	PubMed	ETO interacts with HEBa. This interaction was modeled on a demonstrated interaction between ETO and HEBb.
NP_004340.1	NP_003191.1	TCF3	BIND	PubMed	ETO interacts with E2A.
NP_004340.1	NP_003190.1	TCF4	BIND	PubMed	ETO interacts with E2-2.
Q06455	Q9P2A4	ABI3	HPRD	PubMed
Q06455	P54259	ATN1	HPRD	PubMed
Q06455	P41182	BCL6	HPRD	PubMed
Q06455	Chromosome 19 open reading frame 57	C19orf57	HPRD	PubMed
Q06455	MTGR2	CBFA2T3	HPRD	PubMed
Q06455	Q99684	GFI1	HPRD	PubMed
Q06455	Q13547	HDAC1	HPRD	PubMed
Q06455	O15379	HDAC3	HPRD	PubMed
Q06455	Q9BY41	HDAC8	HPRD	PubMed
Q06455	P07900	HSP90AA1	HPRD	PubMed
Q06455	P41134	ID1	HPRD	PubMed
Q06455	Q02535	ID3	HPRD	PubMed
Q06455	P52294	KPNA1	HPRD	PubMed
Q06455	Q14974	KPNB1	HPRD	PubMed
Q06455	O75376	NCOR1	HPRD	PubMed
Q06455	Q9Y618	NCOR2	HPRD	PubMed
Q06455	EF hand calcium binding protein 2	NECAB2	HPRD	PubMed
Q06455	P13861	PRKAR2A	HPRD	PubMed
Q06455	Q06455	RUNX1T1	HPRD	PubMed
Q06455	Q96ST3	SIN3A	HPRD	PubMed
Q06455	Q9HBM6	TAF9B	HPRD	PubMed
Q06455	P15923	TCF3	HPRD	PubMed
Q06455	P15884	TCF4	HPRD	PubMed
Q06455	Q9NRR5	UBQLN4	HPRD	PubMed
Q06455	Q9Y2W2	WBP11	HPRD	PubMed
Q06455	Q05516	ZBTB16	HPRD	PubMed
BioGRID:107310	BioGRID:119389	ABI3	BioGRID	PubMed	Two-hybrid
BioGRID:107310	BioGRID:108156	ATN1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107310	BioGRID:122590	C19orf57	BioGRID	PubMed	Two-hybrid
BioGRID:107310	BioGRID:114586	CBFA2T2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107310	BioGRID:107311	CBFA2T3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107310	BioGRID:570479	CEP170P1	BioGRID	PubMed	Two-hybrid
BioGRID:107310	BioGRID:108940	GFI1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107310	BioGRID:109315	HDAC1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107310	BioGRID:109316	HDAC2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107310	BioGRID:114368	HDAC3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107310	BioGRID:120968	HDAC8	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107310	BioGRID:110034	KPNA1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107310	BioGRID:110035	KPNB1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107310	BioGRID:114973	NCOR1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107310	BioGRID:114974	NCOR2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107310	BioGRID:120035	NECAB2	BioGRID	PubMed	Two-hybrid
BioGRID:107310	BioGRID:110835	NEUROG1	BioGRID	PubMed	Two-hybrid
BioGRID:107310	BioGRID:120112	OTUD4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107310	BioGRID:123893	PCBD2	BioGRID	PubMed	Two-hybrid
BioGRID:107310	BioGRID:122025	PRDM14	BioGRID	PubMed	Two-hybrid
BioGRID:107310	BioGRID:111562	PRKAR2A	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107310	BioGRID:107309	RUNX1	BioGRID	PubMed	Co-purification
BioGRID:107310	BioGRID:107310	RUNX1T1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107310	BioGRID:117439	SIN3A	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107310	BioGRID:119639	TAF9B	BioGRID	PubMed	Two-hybrid
BioGRID:107310	BioGRID:112750	TAL2	BioGRID	PubMed	Two-hybrid
BioGRID:107310	BioGRID:112798	TCF12	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107310	BioGRID:112791	TCF3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107310	BioGRID:115292	THRAP3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107310	BioGRID:119625	TRIM33	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107310	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107310	BioGRID:113173	UBE2E2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107310	BioGRID:113264	VDR	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107310	BioGRID:119702	WBP11	BioGRID	PubMed	Two-hybrid
BioGRID:107310	BioGRID:113498	ZBTB16	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid

Function	Evidence Code	Pubs
DNA binding	IEA Inferred from Electronic Annotation more info
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
metal ion binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
fat cell differentiation	IEA Inferred from Electronic Annotation more info
generation of precursor metabolites and energy	TAS Traceable Author Statement more info	PubMed
regulation of DNA binding	IEA Inferred from Electronic Annotation more info
regulation of transcription, DNA-dependent	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
nuclear matrix	IDA Inferred from Direct Assay more info	PubMed
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: protein CBFA2T1

Names: protein CBFA2T1; eight twenty one protein; myeloid translocation gene on 8q22; zinc finger MYND domain-containing protein 2; acute myelogenous leukemia 1 translocation 1, cyclin-D related; core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related

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NCBI Reference Sequences (RefSeq)

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

NG_023272.2 RefSeqGene

Range

5001..153260

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001198625.1 → 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

UniProtKB/Swiss-Prot

Q06455

Related

ENSP00000430728, OTTHUMP00000225794, ENST00000518844, OTTHUMT00000377119

Conserved Domains (4) summary

pfam08788
Location:310 – 376
Blast Score: 322

NHR2; NHR2 domain like

cl02658
Location:93 – 188
Blast Score: 378

TAFH; NHR1 homology to TAF

pfam01753
Location:488 – 524
Blast Score: 147

zf-MYND; MYND finger

cl07975
Location:416 – 487
Blast Score: 92

ATP-synt_B; ATP synthase B/B' CF(0)
NM_001198626.1 → 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, DA503204, DA776968

Consensus CDS

CCDS6256.1

UniProtKB/Swiss-Prot

Q06455

UniProtKB/TrEMBL

Q7Z4J5

Conserved Domains (4) summary

pfam08788
Location:337 – 403
Blast Score: 322

NHR2; NHR2 domain like

cl02658
Location:120 – 215
Blast Score: 380

TAFH; NHR1 homology to TAF

pfam01753
Location:515 – 551
Blast Score: 144

zf-MYND; MYND finger

cl07975
Location:443 – 514
Blast Score: 91

ATP-synt_B; ATP synthase B/B' CF(0)
NM_001198627.1 → 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

Q06455

UniProtKB/TrEMBL

Q7Z4J5

Conserved Domains (4) summary

pfam08788
Location:337 – 403
Blast Score: 322

NHR2; NHR2 domain like

cl02658
Location:120 – 215
Blast Score: 380

TAFH; NHR1 homology to TAF

pfam01753
Location:515 – 551
Blast Score: 144

zf-MYND; MYND finger

cl07975
Location:443 – 514
Blast Score: 91

ATP-synt_B; ATP synthase B/B' CF(0)
NM_001198628.1 → 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

Q06455

UniProtKB/TrEMBL

Q7Z4J5

Related

ENSP00000265814, ENST00000265814

Conserved Domains (4) summary

pfam08788
Location:337 – 403
Blast Score: 322

NHR2; NHR2 domain like

cl02658
Location:120 – 215
Blast Score: 380

TAFH; NHR1 homology to TAF

pfam01753
Location:515 – 551
Blast Score: 144

zf-MYND; MYND finger

cl07975
Location:443 – 514
Blast Score: 91

ATP-synt_B; ATP synthase B/B' CF(0)
NM_001198629.1 → 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, DA770917, DA774453

Consensus CDS

CCDS6256.1

UniProtKB/Swiss-Prot

Q06455

UniProtKB/TrEMBL

Q7Z4J5

Conserved Domains (4) summary

pfam08788
Location:337 – 403
Blast Score: 322

NHR2; NHR2 domain like

cl02658
Location:120 – 215
Blast Score: 380

TAFH; NHR1 homology to TAF

pfam01753
Location:515 – 551
Blast Score: 144

zf-MYND; MYND finger

cl07975
Location:443 – 514
Blast Score: 91

ATP-synt_B; ATP synthase B/B' CF(0)
NM_001198630.1 → 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

Q06455

UniProtKB/TrEMBL

Q7Z4J5

Conserved Domains (4) summary

pfam08788
Location:337 – 403
Blast Score: 322

NHR2; NHR2 domain like

cl02658
Location:120 – 215
Blast Score: 380

TAFH; NHR1 homology to TAF

pfam01753
Location:515 – 551
Blast Score: 144

zf-MYND; MYND finger

cl07975
Location:443 – 514
Blast Score: 91

ATP-synt_B; ATP synthase B/B' CF(0)
NM_001198631.1 → 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, DA503204, DA777240

Consensus CDS

CCDS6256.1

UniProtKB/Swiss-Prot

Q06455

UniProtKB/TrEMBL

Q7Z4J5

Conserved Domains (4) summary

pfam08788
Location:337 – 403
Blast Score: 322

NHR2; NHR2 domain like

cl02658
Location:120 – 215
Blast Score: 380

TAFH; NHR1 homology to TAF

pfam01753
Location:515 – 551
Blast Score: 144

zf-MYND; MYND finger

cl07975
Location:443 – 514
Blast Score: 91

ATP-synt_B; ATP synthase B/B' CF(0)
NM_001198632.1 → 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, DA770917

Consensus CDS

CCDS47891.1

UniProtKB/Swiss-Prot

Q06455

UniProtKB/TrEMBL

Q7Z4J5

Conserved Domains (4) summary

pfam08788
Location:310 – 376
Blast Score: 322

NHR2; NHR2 domain like

cl02658
Location:93 – 188
Blast Score: 378

TAFH; NHR1 homology to TAF

pfam01753
Location:488 – 524
Blast Score: 147

zf-MYND; MYND finger

cl07975
Location:416 – 487
Blast Score: 92

ATP-synt_B; ATP synthase B/B' CF(0)
NM_001198633.1 → 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, BC067078, DA779230, DA787376

UniProtKB/TrEMBL

Q7Z4J5

Conserved Domains (4) summary

pfam08788
Location:317 – 383
Blast Score: 324

NHR2; NHR2 domain like

cl02658
Location:100 – 195
Blast Score: 378

TAFH; NHR1 homology to TAF

pfam01753
Location:495 – 531
Blast Score: 147

zf-MYND; MYND finger

cl07975
Location:423 – 494
Blast Score: 92

ATP-synt_B; ATP synthase B/B' CF(0)
NM_001198634.1 → 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, DA503204

Consensus CDS

CCDS56544.1

UniProtKB/TrEMBL

B7Z4P4

UniProtKB/TrEMBL

E7EPN4

Related

ENSP00000402257, ENST00000436581

Conserved Domains (4) summary

pfam08788
Location:348 – 414
Blast Score: 323

NHR2; NHR2 domain like

cl02658
Location:131 – 226
Blast Score: 380

TAFH; NHR1 homology to TAF

pfam01753
Location:526 – 562
Blast Score: 144

zf-MYND; MYND finger

cl07975
Location:454 – 525
Blast Score: 92

ATP-synt_B; ATP synthase B/B' CF(0)
NM_001198679.1 → NP_001185608.1 protein CBFA2T1 isoform F

Status: VALIDATED

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, BC067078, DA503204, DA776825

UniProtKB/TrEMBL

Q7Z4J5

Conserved Domains (4) summary

pfam08788
Location:396 – 462
Blast Score: 323

NHR2; NHR2 domain like

cl02658
Location:179 – 274
Blast Score: 382

TAFH; NHR1 homology to TAF

pfam01753
Location:574 – 610
Blast Score: 144

zf-MYND; MYND finger

cl07975
Location:502 – 573
Blast Score: 92

ATP-synt_B; ATP synthase B/B' CF(0)
NM_004349.3 → 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/Swiss-Prot

Q06455

Related

ENSP00000379520, OTTHUMP00000225750, ENST00000396218, OTTHUMT00000377043

Conserved Domains (4) summary

pfam08788
Location:310 – 376
Blast Score: 322

NHR2; NHR2 domain like

cl02658
Location:93 – 188
Blast Score: 378

TAFH; NHR1 homology to TAF

pfam01753
Location:488 – 524
Blast Score: 147

zf-MYND; MYND finger

cl07975
Location:416 – 487
Blast Score: 92

ATP-synt_B; ATP synthase B/B' CF(0)
NM_175634.2 → 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, D14821, DA787376

Consensus CDS

CCDS6256.1

UniProtKB/Swiss-Prot

Q06455

Related

ENSP00000428543, OTTHUMP00000225752, ENST00000523629, OTTHUMT00000377045

Conserved Domains (4) summary

pfam08788
Location:337 – 403
Blast Score: 322

NHR2; NHR2 domain like

cl02658
Location:120 – 215
Blast Score: 380

TAFH; NHR1 homology to TAF

pfam01753
Location:515 – 551
Blast Score: 144

zf-MYND; MYND finger

cl07975
Location:443 – 514
Blast Score: 91

ATP-synt_B; ATP synthase B/B' CF(0)
NM_175635.2 → 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/Swiss-Prot

Q06455

UniProtKB/TrEMBL

Q7Z4J5

Related

ENSP00000353504, OTTHUMP00000225792, ENST00000360348, OTTHUMT00000377117

Conserved Domains (4) summary

pfam08788
Location:300 – 366
Blast Score: 323

NHR2; NHR2 domain like

cl02658
Location:83 – 178
Blast Score: 377

TAFH; NHR1 homology to TAF

pfam01753
Location:478 – 514
Blast Score: 146

zf-MYND; MYND finger

cl07975
Location:406 – 477
Blast Score: 91

ATP-synt_B; ATP synthase B/B' CF(0)
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/Swiss-Prot

Q06455

UniProtKB/TrEMBL

Q7Z4J5

Related

ENSP00000390137, OTTHUMP00000225751, ENST00000422361, OTTHUMT00000377044

Conserved Domains (4) summary

pfam08788
Location:300 – 366
Blast Score: 323

NHR2; NHR2 domain like

cl02658
Location:83 – 178
Blast Score: 377

TAFH; NHR1 homology to TAF

pfam01753
Location:478 – 514
Blast Score: 146

zf-MYND; MYND finger

cl07975
Location:406 – 477
Blast Score: 91

ATP-synt_B; ATP synthase B/B' CF(0)

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000008.10 Reference GRCh37.p5 Primary Assembly

Range

92967195..93115454, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000140.1 Alternate HuRef

Range

88174218..88322535, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB074982.1	BAB88555.1
genomic	AC103680.2 (131855..151280)	None
genomic	AC104339.10 (46629..67685)	None
genomic	AF018280.1	AAC28933.1
		AAC28934.1
genomic	AF018282.1	AAC28931.1
		AAC28932.1
genomic	AF181450.5 (7596..123087)	None
genomic	AF198490.1	AAG33024.1
genomic	CH471060.1	EAW91681.1
		EAW91682.1
		EAW91683.1
		EAW91684.1
		EAW91685.1
		EAW91686.1
genomic	S74096.1	AAB32126.1
mRNA	AA506749.1	None
mRNA	AF018283.1	AAC26143.1
mRNA	AF131817.1	None
mRNA	AK057707.1	None
mRNA	AK297616.1	BAH12630.1
mRNA	AK312592.1	BAG35486.1
mRNA	AL049240.1	None
mRNA	BC005850.1	AAH05850.1
mRNA	BC067078.1	AAH67078.2
mRNA	BC139783.1	None
mRNA	BT009871.1	AAP88873.1
mRNA	CR456792.1	CAG33073.1
mRNA	D14289.1	BAA03247.1
mRNA	D14821.1	BAA03558.1
mRNA	D43638.1	BAA07755.1
mRNA	DA499596.1	None
mRNA	DA500281.1	None
mRNA	DA503204.1	None
mRNA	DA504975.1	None
mRNA	DA770917.1	None
mRNA	DA774453.1	None
mRNA	DA776825.1	None
mRNA	DA776968.1	None
mRNA	DA777240.1	None
mRNA	DA779230.1	None
mRNA	DA787376.1	None
mRNA	DA795825.1	None
mRNA	DA796892.1	None
mRNA	X79990.1	CAA56311.1
other-genetic	JF432279.1	ADZ15496.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q06455.2	GenPept	UniProtKB/Swiss-Prot:Q06455
Q6NXH1	GenPept	UniProtKB/TrEMBL:Q6NXH1
Q71VC2	GenPept	UniProtKB/TrEMBL:Q71VC2
Q71VC3	GenPept	UniProtKB/TrEMBL:Q71VC3
Q7Z4J5	GenPept	UniProtKB/TrEMBL:Q7Z4J5
Q8TDW8	GenPept	UniProtKB/TrEMBL:Q8TDW8
Q9HBV9	GenPept	UniProtKB/TrEMBL:Q9HBV9