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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)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri45 – 8036FCS-typePROSITE-ProRule annotationAdd
BLAST

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

PharmGKBiPA134938339.

Chemistry

ChEMBLiCHEMBL1287625.

Polymorphism and mutation databases

BioMutaiMBTD1.
DMDMi166232936.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 628628MBT domain-containing protein 1PRO_0000313717Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei115 – 1151N6-acetyllysineBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ05BQ5.
MaxQBiQ05BQ5.
PaxDbiQ05BQ5.
PeptideAtlasiQ05BQ5.
PRIDEiQ05BQ5.

PTM databases

iPTMnetiQ05BQ5.
PhosphoSiteiQ05BQ5.

Expressioni

Gene expression databases

BgeeiQ05BQ5.
CleanExiHS_MBTD1.
ExpressionAtlasiQ05BQ5. baseline and differential.
GenevisibleiQ05BQ5. HS.

Organism-specific databases

HPAiHPA021876.

Interactioni

Subunit structurei

Monomer.1 Publication

Protein-protein interaction databases

BioGridi120158. 17 interactions.
IntActiQ05BQ5. 6 interactions.
STRINGi9606.ENSP00000403946.

Chemistry

BindingDBiQ05BQ5.

Structurei

Secondary structure

1
628
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi143 – 1508Combined sources
Helixi157 – 1593Combined sources
Turni164 – 1674Combined sources
Beta strandi177 – 1815Combined sources
Beta strandi187 – 1893Combined sources
Beta strandi192 – 20110Combined sources
Beta strandi204 – 2096Combined sources
Beta strandi220 – 2234Combined sources
Helixi234 – 2385Combined sources
Helixi246 – 2483Combined sources
Turni249 – 2513Combined sources
Helixi255 – 2639Combined sources
Helixi273 – 2808Combined sources
Beta strandi289 – 2957Combined sources
Beta strandi298 – 31114Combined sources
Beta strandi314 – 3218Combined sources
Beta strandi328 – 3325Combined sources
Helixi343 – 3475Combined sources
Helixi368 – 3703Combined sources
Beta strandi380 – 3823Combined sources
Beta strandi389 – 3946Combined sources
Beta strandi397 – 40913Combined sources
Helixi411 – 4133Combined sources
Beta strandi414 – 4196Combined sources
Beta strandi431 – 4344Combined sources
Helixi445 – 4495Combined sources
Beta strandi461 – 4633Combined sources
Helixi466 – 4738Combined sources
Helixi480 – 4834Combined sources
Beta strandi497 – 5015Combined sources
Beta strandi509 – 51810Combined sources
Beta strandi521 – 5266Combined sources
Helixi531 – 5333Combined sources
Beta strandi535 – 5384Combined sources
Helixi549 – 5535Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3FEOX-ray2.50A/B130-566[»]
4C5IX-ray2.59A/B130-566[»]
ProteinModelPortaliQ05BQ5.
SMRiQ05BQ5. Positions 135-562.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ05BQ5.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati141 – 245105MBT 1Add
BLAST
Repeati253 – 35098MBT 2Add
BLAST
Repeati351 – 456106MBT 3Add
BLAST
Repeati464 – 56097MBT 4Add
BLAST

Sequence similaritiesi

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

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri45 – 8036FCS-typePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IMEY. Eukaryota.
ENOG410ZCJZ. LUCA.
GeneTreeiENSGT00760000119024.
HOGENOMiHOG000231220.
HOVERGENiHBG057974.
InParanoidiQ05BQ5.
OMAiYYIKQEP.
OrthoDBiEOG7M98G1.
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 BAC85763.1 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti575 – 5751Q → K in AAH34364 (PubMed:15489334).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 164164Missing in isoform 3. 2 PublicationsVSP_030115Add
BLAST
Alternative sequencei163 – 1697APMGTCW → GRRVAPR in isoform 2. 1 PublicationVSP_042701
Alternative sequencei170 – 628459Missing in isoform 2. 1 PublicationVSP_042702Add
BLAST
Alternative sequencei564 – 62865SSREN…IKQEP → CKLVYRKGVLL in isoform 3. 2 PublicationsVSP_030118Add
BLAST

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
EntryMethodResolution (Å)ChainPositionsPDBsum
3FEOX-ray2.50A/B130-566[»]
4C5IX-ray2.59A/B130-566[»]
ProteinModelPortaliQ05BQ5.
SMRiQ05BQ5. Positions 135-562.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120158. 17 interactions.
IntActiQ05BQ5. 6 interactions.
STRINGi9606.ENSP00000403946.

Chemistry

BindingDBiQ05BQ5.
ChEMBLiCHEMBL1287625.

PTM databases

iPTMnetiQ05BQ5.
PhosphoSiteiQ05BQ5.

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

Phylogenomic databases

eggNOGiENOG410IMEY. Eukaryota.
ENOG410ZCJZ. LUCA.
GeneTreeiENSGT00760000119024.
HOGENOMiHOG000231220.
HOVERGENiHBG057974.
InParanoidiQ05BQ5.
OMAiYYIKQEP.
OrthoDBiEOG7M98G1.
PhylomeDBiQ05BQ5.

Miscellaneous databases

ChiTaRSiMBTD1. human.
EvolutionaryTraceiQ05BQ5.
GenomeRNAii54799.
PROiQ05BQ5.

Gene expression databases

BgeeiQ05BQ5.
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...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
    Tissue: Colon and Synovium.
  2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-577 (ISOFORM 1).
    Tissue: Eye.
  5. Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 130-566, SUBUNIT, FUNCTION.
  6. "Recurrent translocation (10;17)(p15;q21) in acute poorly differentiated myeloid leukemia likely results in ZMYND11-MBTD1 fusion."
    De Braekeleer E., Auffret R., Douet-Guilbert N., Basinko A., Le Bris M.J., Morel F., De Braekeleer M.
    Leuk. Lymphoma 55:1189-1190(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHROMOSOMAL TRANSLOCATION WITH ZMYND11.

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: July 6, 2016
This is version 87 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.