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Protein

MBT domain-containing protein 1

Gene

MBTD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility (By similarity). Specifically binds to monomethylated and dimethylated 'Lys-20' on histone H4.By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri45 – 80FCS-typePROSITE-ProRule annotationAdd BLAST36

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
MBT domain-containing protein 1
Gene namesi
Name:MBTD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:19866. MBTD1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving MBTD1 is a cause of acute poorly differentiated myeloid leukemia. Translocation (10;17)(p15;q21) with ZMYND11.

Organism-specific databases

DisGeNETi54799.
OpenTargetsiENSG00000011258.
PharmGKBiPA134938339.

Chemistry databases

ChEMBLiCHEMBL1287625.

Polymorphism and mutation databases

BioMutaiMBTD1.
DMDMi166232936.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003137171 – 628MBT domain-containing protein 1Add BLAST628

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei115N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ05BQ5.
MaxQBiQ05BQ5.
PaxDbiQ05BQ5.
PeptideAtlasiQ05BQ5.
PRIDEiQ05BQ5.

PTM databases

iPTMnetiQ05BQ5.
PhosphoSitePlusiQ05BQ5.

Expressioni

Gene expression databases

BgeeiENSG00000011258.
CleanExiHS_MBTD1.
ExpressionAtlasiQ05BQ5. baseline and differential.
GenevisibleiQ05BQ5. HS.

Organism-specific databases

HPAiHPA021876.

Interactioni

Subunit structurei

Monomer.1 Publication

Protein-protein interaction databases

BioGridi120158. 17 interactors.
IntActiQ05BQ5. 6 interactors.
STRINGi9606.ENSP00000403946.

Chemistry databases

BindingDBiQ05BQ5.

Structurei

Secondary structure

1628
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi143 – 150Combined sources8
Helixi157 – 159Combined sources3
Turni164 – 167Combined sources4
Beta strandi177 – 181Combined sources5
Beta strandi187 – 189Combined sources3
Beta strandi192 – 201Combined sources10
Beta strandi204 – 209Combined sources6
Beta strandi220 – 223Combined sources4
Helixi234 – 238Combined sources5
Helixi246 – 248Combined sources3
Turni249 – 251Combined sources3
Helixi255 – 263Combined sources9
Helixi273 – 280Combined sources8
Beta strandi289 – 295Combined sources7
Beta strandi298 – 311Combined sources14
Beta strandi314 – 321Combined sources8
Beta strandi328 – 332Combined sources5
Helixi343 – 347Combined sources5
Helixi368 – 370Combined sources3
Beta strandi380 – 382Combined sources3
Beta strandi389 – 394Combined sources6
Beta strandi397 – 409Combined sources13
Helixi411 – 413Combined sources3
Beta strandi414 – 419Combined sources6
Beta strandi431 – 434Combined sources4
Helixi445 – 449Combined sources5
Beta strandi461 – 463Combined sources3
Helixi466 – 473Combined sources8
Helixi480 – 483Combined sources4
Beta strandi497 – 501Combined sources5
Beta strandi509 – 518Combined sources10
Beta strandi521 – 526Combined sources6
Helixi531 – 533Combined sources3
Beta strandi535 – 538Combined sources4
Helixi549 – 553Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3FEOX-ray2.50A/B130-566[»]
4C5IX-ray2.59A/B130-566[»]
ProteinModelPortaliQ05BQ5.
SMRiQ05BQ5.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ05BQ5.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati141 – 245MBT 1Add BLAST105
Repeati253 – 350MBT 2Add BLAST98
Repeati351 – 456MBT 3Add BLAST106
Repeati464 – 560MBT 4Add BLAST97

Sequence similaritiesi

Contains 1 FCS-type zinc finger.PROSITE-ProRule annotation
Contains 4 MBT repeats.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri45 – 80FCS-typePROSITE-ProRule annotationAdd BLAST36

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IMEY. Eukaryota.
ENOG410ZCJZ. LUCA.
GeneTreeiENSGT00760000119024.
HOGENOMiHOG000231220.
HOVERGENiHBG057974.
InParanoidiQ05BQ5.
OMAiYYIKQEP.
OrthoDBiEOG091G0312.
PhylomeDBiQ05BQ5.

Family and domain databases

InterProiIPR004092. Mbt.
IPR012313. Znf_FCS.
[Graphical view]
PfamiPF02820. MBT. 4 hits.
[Graphical view]
SMARTiSM00561. MBT. 4 hits.
[Graphical view]
PROSITEiPS51079. MBT. 4 hits.
PS51024. ZF_FCS. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q05BQ5-1) [UniParc]FASTAAdd to basket

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
MFDGYDSCSE DTSSSSSSEE SEEEVAPLPS NLPIIKNNGQ VYTYPDGKSG
60 70 80 90 100
MATCEMCGMV GVRDAFYSKT KRFCSVSCSR SYSSNSKKAS ILARLQGKPP
110 120 130 140 150
TKKAKVLQKQ PLVAKLAAYA QYQATLQNQA KTKAAVSMEG FSWGNYINSN
160 170 180 190 200
SFIAAPVTCF KHAPMGTCWG DISENVRVEV PNTDCSLPTK VFWIAGIVKL
210 220 230 240 250
AGYNALLRYE GFENDSGLDF WCNICGSDIH PVGWCAASGK PLVPPRTIQH
260 270 280 290 300
KYTNWKAFLV KRLTGAKTLP PDFSQKVSES MQYPFKPCMR VEVVDKRHLC
310 320 330 340 350
RTRVAVVESV IGGRLRLVYE ESEDRTDDFW CHMHSPLIHH IGWSRSIGHR
360 370 380 390 400
FKRSDITKKQ DGHFDTPPHL FAKVKEVDQS GEWFKEGMKL EAIDPLNLST
410 420 430 440 450
ICVATIRKVL ADGFLMIGID GSEAADGSDW FCYHATSPSI FPVGFCEINM
460 470 480 490 500
IELTPPRGYT KLPFKWFDYL RETGSIAAPV KLFNKDVPNH GFRVGMKLEA
510 520 530 540 550
VDLMEPRLIC VATVTRIIHR LLRIHFDGWE EEYDQWVDCE SPDLYPVGWC
560 570 580 590 600
QLTGYQLQPP ASQSSRENQS ASSKQKKKAK SQQYKGHKKM TTLQLKEELL
610 620
DGEDYNFLQG ASDQESNGSA NFYIKQEP
Length:628
Mass (Da):70,547
Last modified:January 15, 2008 - v2
Checksum:i8D2E6C7EF5C5D8AA
GO
Isoform 2 (identifier: Q05BQ5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     163-169: APMGTCW → GRRVAPR
     170-628: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.
Show »
Length:169
Mass (Da):18,381
Checksum:i8C3D0A97AABAAA82
GO
Isoform 3 (identifier: Q05BQ5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-164: Missing.
     564-628: SSRENQSASS...SANFYIKQEP → CKLVYRKGVLL

Show »
Length:410
Mass (Da):46,717
Checksum:i6E9C09639AC02CF3
GO

Sequence cautioni

The sequence BAC85763 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti575Q → K in AAH34364 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0301151 – 164Missing in isoform 3. 2 PublicationsAdd BLAST164
Alternative sequenceiVSP_042701163 – 169APMGTCW → GRRVAPR in isoform 2. 1 Publication7
Alternative sequenceiVSP_042702170 – 628Missing in isoform 2. 1 PublicationAdd BLAST459
Alternative sequenceiVSP_030118564 – 628SSREN…IKQEP → CKLVYRKGVLL in isoform 3. 2 PublicationsAdd BLAST65

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000062 mRNA. Translation: BAA90919.1.
AK124061 mRNA. Translation: BAC85763.1. Sequence problems.
AC005839 Genomic DNA. No translation available.
AC006141 Genomic DNA. No translation available.
CH471109 Genomic DNA. Translation: EAW94562.1.
BC034364 mRNA. Translation: AAH34364.1.
BC101736 mRNA. Translation: AAI01737.1.
CCDSiCCDS11581.2. [Q05BQ5-1]
RefSeqiNP_060113.2. NM_017643.2. [Q05BQ5-1]
XP_011523238.1. XM_011524936.1.
UniGeneiHs.656803.

Genome annotation databases

EnsembliENST00000376381; ENSP00000365561; ENSG00000011258. [Q05BQ5-3]
ENST00000405860; ENSP00000386072; ENSG00000011258. [Q05BQ5-2]
ENST00000415868; ENSP00000403946; ENSG00000011258. [Q05BQ5-1]
ENST00000586178; ENSP00000468304; ENSG00000011258. [Q05BQ5-1]
GeneIDi54799.
KEGGihsa:54799.
UCSCiuc002itp.5. human. [Q05BQ5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000062 mRNA. Translation: BAA90919.1.
AK124061 mRNA. Translation: BAC85763.1. Sequence problems.
AC005839 Genomic DNA. No translation available.
AC006141 Genomic DNA. No translation available.
CH471109 Genomic DNA. Translation: EAW94562.1.
BC034364 mRNA. Translation: AAH34364.1.
BC101736 mRNA. Translation: AAI01737.1.
CCDSiCCDS11581.2. [Q05BQ5-1]
RefSeqiNP_060113.2. NM_017643.2. [Q05BQ5-1]
XP_011523238.1. XM_011524936.1.
UniGeneiHs.656803.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3FEOX-ray2.50A/B130-566[»]
4C5IX-ray2.59A/B130-566[»]
ProteinModelPortaliQ05BQ5.
SMRiQ05BQ5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120158. 17 interactors.
IntActiQ05BQ5. 6 interactors.
STRINGi9606.ENSP00000403946.

Chemistry databases

BindingDBiQ05BQ5.
ChEMBLiCHEMBL1287625.

PTM databases

iPTMnetiQ05BQ5.
PhosphoSitePlusiQ05BQ5.

Polymorphism and mutation databases

BioMutaiMBTD1.
DMDMi166232936.

Proteomic databases

EPDiQ05BQ5.
MaxQBiQ05BQ5.
PaxDbiQ05BQ5.
PeptideAtlasiQ05BQ5.
PRIDEiQ05BQ5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000376381; ENSP00000365561; ENSG00000011258. [Q05BQ5-3]
ENST00000405860; ENSP00000386072; ENSG00000011258. [Q05BQ5-2]
ENST00000415868; ENSP00000403946; ENSG00000011258. [Q05BQ5-1]
ENST00000586178; ENSP00000468304; ENSG00000011258. [Q05BQ5-1]
GeneIDi54799.
KEGGihsa:54799.
UCSCiuc002itp.5. human. [Q05BQ5-1]

Organism-specific databases

CTDi54799.
DisGeNETi54799.
GeneCardsiMBTD1.
H-InvDBHIX0013996.
HGNCiHGNC:19866. MBTD1.
HPAiHPA021876.
neXtProtiNX_Q05BQ5.
OpenTargetsiENSG00000011258.
PharmGKBiPA134938339.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IMEY. Eukaryota.
ENOG410ZCJZ. LUCA.
GeneTreeiENSGT00760000119024.
HOGENOMiHOG000231220.
HOVERGENiHBG057974.
InParanoidiQ05BQ5.
OMAiYYIKQEP.
OrthoDBiEOG091G0312.
PhylomeDBiQ05BQ5.

Miscellaneous databases

ChiTaRSiMBTD1. human.
EvolutionaryTraceiQ05BQ5.
GenomeRNAii54799.
PROiQ05BQ5.

Gene expression databases

BgeeiENSG00000011258.
CleanExiHS_MBTD1.
ExpressionAtlasiQ05BQ5. baseline and differential.
GenevisibleiQ05BQ5. HS.

Family and domain databases

InterProiIPR004092. Mbt.
IPR012313. Znf_FCS.
[Graphical view]
PfamiPF02820. MBT. 4 hits.
[Graphical view]
SMARTiSM00561. MBT. 4 hits.
[Graphical view]
PROSITEiPS51079. MBT. 4 hits.
PS51024. ZF_FCS. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMBTD1_HUMAN
AccessioniPrimary (citable) accession number: Q05BQ5
Secondary accession number(s): Q6ZVU7, Q9NXU1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: November 2, 2016
This is version 90 of the entry and version 2 of the sequence. [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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.