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Protein

Protein CBFA2T3

Gene

CBFA2T3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). Reduces the protein levels and stability of the transcriptinal regulator HIF1A; interacts with EGLN1 and promotes the HIF1A prolyl hydroxylation-dependent ubiquitination and proteasomal degradation pathway (PubMed:25974097). Contributes to inhibition of glycolysis and stimulation of mitochondrial respiration by down-regulating the expression of glycolytic genes including PFKFB3, PFKFB4, PDK1, PFKP, LDHA and HK1 which are direct targets of HIF1A (PubMed:23840896, PubMed:25974097). Regulates the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Plays a role in granulocyte differentiation (PubMed:15231665).2 PublicationsBy similarity6 Publications
Isoform 2 functions as an A-kinase-anchoring protein (PubMed:11823486).1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri556 – 592MYND-typePROSITE-ProRule annotationAdd BLAST37

GO - Molecular functioni

GO - Biological processi

  • cell proliferation Source: ProtInc
  • granulocyte differentiation Source: MGI
  • negative regulation of cell proliferation Source: UniProtKB
  • negative regulation of glycolytic process Source: UniProtKB
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • positive regulation of proteasomal ubiquitin-dependent protein catabolic process Source: UniProtKB
  • regulation of aerobic respiration Source: UniProtKB
  • response to hypoxia Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW

Keywordsi

Molecular functionRepressor
Biological processDifferentiation, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNORiO75081

Names & Taxonomyi

Protein namesi
Recommended name:
Protein CBFA2T3
Alternative name(s):
MTG8-related protein 2
Myeloid translocation gene on chromosome 16 protein
Short name:
hMTG16
Zinc finger MYND domain-containing protein 4
Gene namesi
Name:CBFA2T3
Synonyms:MTG16, MTGR2, ZMYND4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000129993.14
HGNCiHGNC:1537 CBFA2T3
MIMi603870 gene
neXtProtiNX_O75081

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Golgi apparatus, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving CBFA2T3 is found in therapy-related myeloid malignancies. Translocation t(16;21)(q24;q22) that forms a RUNX1-CBFA2T3 fusion protein.3 Publications

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi494V → P or A: Loss of interaction with PRKAR2A. 1 Publication1

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei51 – 52Breakpoint for translocation to form type-1 RUNX1-CBFA2T3 fusion protein2
Sitei127 – 128Breakpoint for translocation to form type-2 RUNX1-CBFA2T3 fusion protein2

Organism-specific databases

DisGeNETi863
MalaCardsiCBFA2T3
OpenTargetsiENSG00000129993
Orphaneti329469 Acute megakaryoblastic leukemia without Down syndrome
PharmGKBiPA26113

Polymorphism and mutation databases

BioMutaiCBFA2T3

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003071731 – 653Protein CBFA2T3Add BLAST653

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei457PhosphoserineCombined sources1
Modified residuei459PhosphoserineCombined sources1
Modified residuei479PhosphothreonineCombined sources1
Modified residuei637PhosphoserineCombined sources1
Modified residuei641PhosphoserineCombined sources1
Modified residuei650PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO75081
MaxQBiO75081
PaxDbiO75081
PeptideAtlasiO75081
PRIDEiO75081

PTM databases

iPTMnetiO75081
PhosphoSitePlusiO75081

Expressioni

Tissue specificityi

Widely expressed with higher expression in heart, pancreas, skeletal muscle, spleen, thymus and peripheral blood leukocytes. Expressed in hematopoietic cells (at protein level).3 Publications

Inductioni

Down-regulated by all-trans retinoic acid (ATRA).1 Publication

Gene expression databases

BgeeiENSG00000129993
ExpressionAtlasiO75081 baseline and differential
GenevisibleiO75081 HS

Organism-specific databases

HPAiHPA059931
HPA062423
HPA065890

Interactioni

Subunit structurei

Homooligomer. Homotetramerization is mediated by nervy homology region 2 (NRH2) (By similarity). Can interact with RUNX1T1 and CBFA2T2; heterotetramerization between members of the CBFA2T family is proposed (PubMed:12242670). Component of a TAL-1 complex composed at least of CBFA2T3, LDB1, TAL1 and TCF3 (By similarity). Interacts with ERBB4, HDAC1, HDAC2, HDAC3, HDAC6, HDAC8, NCOR1, NCOR2, and ZNF652. According to PubMed:12242670, may not interact with HDAC6. Interacts with PLXNA1, PLXNA3 and PRKAR1A. Isoform 2 interacts with PRKAR2A, PDE7A and probably PDE4A. Interacts with ZBTB4, ZBTB38 and ZBTB33. Interacts with HIF1A and EGLN1. Interacts with the AML1-MTG8/ETO fusion protein.By similarity11 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi107311, 26 interactors
DIPiDIP-48898N
IntActiO75081, 15 interactors
MINTiO75081
STRINGi9606.ENSP00000268679

Structurei

3D structure databases

ProteinModelPortaliO75081
SMRiO75081
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini171 – 266TAFHPROSITE-ProRule annotationAdd BLAST96

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 435Mediates localization to the nucleusBy similarityAdd BLAST435
Regioni1 – 430Mediates interaction with PDE7A (in isoform 2)Add BLAST430
Regioni1 – 127Required for nucleolar targeting (in isoform 1)Add BLAST127
Regioni145 – 242Interaction with ZBTB331 PublicationAdd BLAST98
Regioni176 – 268Interaction with HIF1A1 PublicationAdd BLAST93
Regioni394 – 412Nervy homology region 2 (NHR2); essential for down-regulation of PFKFB3, PFKFB4 and PDK1 expression1 PublicationAdd BLAST19
Regioni485 – 533Nervy homology region 3 (NHR3); essential for down-regulation of PFKFB3, PFKFB4 and PDK1 expression1 PublicationAdd BLAST49
Regioni485 – 506Mediates interaction with PRKAR2A1 PublicationAdd BLAST22

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili488 – 543Sequence analysisAdd BLAST56

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi42 – 99Pro-richAdd BLAST58

Domaini

Nervy homology region 2 (NHR2) mediates homo- and possibly heterotypic oligomerization by forming a four-helix bundle tetrameric structure.By similarity

Sequence similaritiesi

Belongs to the CBFA2T family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri556 – 592MYND-typePROSITE-ProRule annotationAdd BLAST37

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IG1Z Eukaryota
ENOG410XR30 LUCA
GeneTreeiENSGT00390000013479
HOVERGENiHBG000169
InParanoidiO75081
OMAiMAMAHHF
OrthoDBiEOG091G0EIC
PhylomeDBiO75081
TreeFamiTF106303

Family and domain databases

Gene3Di1.20.120.1110, 1 hit
InterProiView protein in InterPro
IPR013289 CBFA2T1/2/3
IPR013292 CBFA2T3
IPR014896 NHR2
IPR037249 TAFH/NHR1_dom_sf
IPR003894 TAFH_NHR1
IPR002893 Znf_MYND
PANTHERiPTHR10379 PTHR10379, 1 hit
PfamiView protein in Pfam
PF08788 NHR2, 1 hit
PF07531 TAFH, 1 hit
PF01753 zf-MYND, 1 hit
PRINTSiPR01875 ETOFAMILY
PR01878 MTG16PROTEIN
SMARTiView protein in SMART
SM00549 TAFH, 1 hit
SUPFAMiSSF158553 SSF158553, 1 hit
PROSITEiView protein in PROSITE
PS51119 TAFH, 1 hit
PS01360 ZF_MYND_1, 1 hit
PS50865 ZF_MYND_2, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O75081-1) [UniParc]FASTAAdd to basket
Also known as: CBFA2T3A, MTG16a

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPASRLRDRA ASSASGSTCG SMSQTHPVLE SGLLASAGCS APRGPRKGGP
60 70 80 90 100
APVDRKAKAS AMPDSPAEVK TQPRSTPPSM PPPPPAASQG ATRPPSFTPH
110 120 130 140 150
THREDGPATL PHGRFHGCLK WSMVCLLMNG SSHSPTAING APCTPNGFSN
160 170 180 190 200
GPATSSTASL STQHLPPACG ARQLSKLKRF LTTLQQFGSD ISPEIGERVR
210 220 230 240 250
TLVLGLVNST LTIEEFHSKL QEATNFPLRP FVIPFLKANL PLLQRELLHC
260 270 280 290 300
ARLAKQTPAQ YLAQHEQLLL DASASSPIDS SELLLEVNEN GKRRTPDRTK
310 320 330 340 350
ENGSDRDPLH PEHLSKRPCT LNPAQRYSPS NGPPQPTPPP HYRLEDIAMA
360 370 380 390 400
HHFRDAYRHP DPRELRERHR PLVVPGSRQE EVIDHKLTER EWAEEWKHLN
410 420 430 440 450
NLLNCIMDMV EKTRRSLTVL RRCQEADREE LNHWARRYSD AEDTKKGPAP
460 470 480 490 500
AAARPRSSSA GPEGPQLDVP REFLPRTLTG YVPEDIWRKA EEAVNEVKRQ
510 520 530 540 550
AMSELQKAVS DAERKAHELI TTERAKMERA LAEAKRQASE DALTVINQQE
560 570 580 590 600
DSSESCWNCG RKASETCSGC NAARYCGSFC QHRDWEKHHH VCGQSLQGPT
610 620 630 640 650
AVVADPVPGP PEAAHSLGPS LPVGAASPSE AGSAGPSRPG SPSPPGPLDT

VPR
Length:653
Mass (Da):71,192
Last modified:October 23, 2007 - v2
Checksum:i0B72B602120FA5DE
GO
Isoform 2 (identifier: O75081-2) [UniParc]FASTAAdd to basket
Also known as: CBFA2T3B, MTG16b

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: Missing.
     102-126: Missing.

Show »
Length:567
Mass (Da):62,372
Checksum:i6BF84FE5AA33B71B
GO
Isoform 3 (identifier: O75081-4) [UniParc]FASTAAdd to basket
Also known as: MTG16c

The sequence of this isoform differs from the canonical sequence as follows:
     51-127: APVDRKAKAS...CLKWSMVCLL → V

Note: No experimental confirmation available.
Show »
Length:577
Mass (Da):63,121
Checksum:iD8F4F45B7DE9C0B7
GO
Isoform 4 (identifier: O75081-5) [UniParc]FASTAAdd to basket
Also known as: MTG16HEL

The sequence of this isoform differs from the canonical sequence as follows:
     51-51: A → GKPALAAAGAPALCTPGQADARPVLGPA
     52-653: Missing.

Note: No experimental confirmation available.
Show »
Length:78
Mass (Da):7,436
Checksum:i03A1369FCDF569CA
GO

Sequence cautioni

The sequence AAH62624 differs from that shown. Aberrant splicing.Curated
The sequence BAA31276 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAA31277 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti231F → L in AAH47019 (PubMed:15489334).Curated1
Sequence conflicti295T → S in AAC64702 (PubMed:9790752).Curated1
Sequence conflicti305D → E in BAA29061 (PubMed:9596646).Curated1
Sequence conflicti370R → P in AAC64698 (PubMed:9790752).Curated1
Sequence conflicti420L → V in AAC64698 (PubMed:9790752).Curated1
Sequence conflicti542A → D in AAC64701 (PubMed:9790752).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035447306R → H in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs745972870Ensembl.1
Natural variantiVAR_035374429E → G1 PublicationCorresponds to variant dbSNP:rs1053526Ensembl.1
Natural variantiVAR_035448518E → K in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs774310781Ensembl.1
Natural variantiVAR_035449534A → V in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs553618592Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0286201 – 61Missing in isoform 2. 1 PublicationAdd BLAST61
Alternative sequenceiVSP_02862151 – 127APVDR…MVCLL → V in isoform 3. CuratedAdd BLAST77
Alternative sequenceiVSP_02862251A → GKPALAAAGAPALCTPGQAD ARPVLGPA in isoform 4. Curated1
Alternative sequenceiVSP_02862352 – 653Missing in isoform 4. CuratedAdd BLAST602
Alternative sequenceiVSP_028624102 – 126Missing in isoform 2. 1 PublicationAdd BLAST25

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB010419 mRNA Translation: BAA29061.1
AB010420 mRNA Translation: BAA29062.1
AB013286 Genomic DNA Translation: BAA31276.1 Sequence problems.
AB013286 Genomic DNA Translation: BAA31277.1 Sequence problems.
CH471184 Genomic DNA Translation: EAW66748.1
CH471184 Genomic DNA Translation: EAW66752.1
BC047019 mRNA Translation: AAH47019.1
BC062624 mRNA Translation: AAH62624.1 Sequence problems.
AF052217, AF052216 Genomic DNA Translation: AAC64701.1
AF052215, AF052213, AF052214 Genomic DNA Translation: AAC64702.1
AF052220 mRNA Translation: AAC64698.1
CCDSiCCDS10972.1 [O75081-1]
CCDS10973.1 [O75081-2]
RefSeqiNP_005178.4, NM_005187.5 [O75081-1]
NP_787127.1, NM_175931.2 [O75081-2]
UniGeneiHs.513811

Genome annotation databases

EnsembliENST00000268679; ENSP00000268679; ENSG00000129993 [O75081-1]
ENST00000327483; ENSP00000332122; ENSG00000129993 [O75081-2]
GeneIDi863
KEGGihsa:863
UCSCiuc002fml.3 human [O75081-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMTG16_HUMAN
AccessioniPrimary (citable) accession number: O75081
Secondary accession number(s): D3DX78
, O60615, O60616, O60617, O75082, O75107, O75108, Q0P5Z6, Q6P5W6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: October 23, 2007
Last modified: March 28, 2018
This is version 138 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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