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Q05BQ5 (MBTD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 67. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
MBT domain-containing protein 1
Gene names
Name:MBTD1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length628 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.5

Subunit structure

Monomer. Ref.5

Subcellular location

Nucleus Probable.

Sequence similarities

Contains 1 FCS-type zinc finger.

Contains 4 MBT repeats.

Sequence caution

The sequence BAC85763.1 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
   DomainRepeat
Zinc-finger
   LigandMetal-binding
Zinc
   Molecular functionChromatin regulator
   PTMAcetylation
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processchromatin modification

Inferred from electronic annotation. Source: UniProtKB-KW

embryonic skeletal system development

Inferred from electronic annotation. Source: Ensembl

regulation of transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionzinc ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q05BQ5-1)

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.
Isoform 2 (identifier: Q05BQ5-2)

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.
Isoform 3 (identifier: Q05BQ5-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 628628MBT domain-containing protein 1
PRO_0000313717

Regions

Repeat141 – 245105MBT 1
Repeat253 – 35098MBT 2
Repeat351 – 456106MBT 3
Repeat464 – 56097MBT 4
Zinc finger45 – 8036FCS-type

Amino acid modifications

Modified residue1151N6-acetyllysine By similarity

Natural variations

Alternative sequence1 – 164164Missing in isoform 3.
VSP_030115
Alternative sequence163 – 1697APMGTCW → GRRVAPR in isoform 2.
VSP_042701
Alternative sequence170 – 628459Missing in isoform 2.
VSP_042702
Alternative sequence564 – 62865SSREN…IKQEP → CKLVYRKGVLL in isoform 3.
VSP_030118

Experimental info

Sequence conflict5751Q → K in AAH34364. Ref.4

Secondary structure

..................................................................... 628
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 15, 2008. Version 2.
Checksum: 8D2E6C7EF5C5D8AA

FASTA62870,547
        10         20         30         40         50         60 
MFDGYDSCSE DTSSSSSSEE SEEEVAPLPS NLPIIKNNGQ VYTYPDGKSG MATCEMCGMV 

        70         80         90        100        110        120 
GVRDAFYSKT KRFCSVSCSR SYSSNSKKAS ILARLQGKPP TKKAKVLQKQ PLVAKLAAYA 

       130        140        150        160        170        180 
QYQATLQNQA KTKAAVSMEG FSWGNYINSN SFIAAPVTCF KHAPMGTCWG DISENVRVEV 

       190        200        210        220        230        240 
PNTDCSLPTK VFWIAGIVKL AGYNALLRYE GFENDSGLDF WCNICGSDIH PVGWCAASGK 

       250        260        270        280        290        300 
PLVPPRTIQH KYTNWKAFLV KRLTGAKTLP PDFSQKVSES MQYPFKPCMR VEVVDKRHLC 

       310        320        330        340        350        360 
RTRVAVVESV IGGRLRLVYE ESEDRTDDFW CHMHSPLIHH IGWSRSIGHR FKRSDITKKQ 

       370        380        390        400        410        420 
DGHFDTPPHL FAKVKEVDQS GEWFKEGMKL EAIDPLNLST ICVATIRKVL ADGFLMIGID 

       430        440        450        460        470        480 
GSEAADGSDW FCYHATSPSI FPVGFCEINM IELTPPRGYT KLPFKWFDYL RETGSIAAPV 

       490        500        510        520        530        540 
KLFNKDVPNH GFRVGMKLEA VDLMEPRLIC VATVTRIIHR LLRIHFDGWE EEYDQWVDCE 

       550        560        570        580        590        600 
SPDLYPVGWC QLTGYQLQPP ASQSSRENQS ASSKQKKKAK SQQYKGHKKM TTLQLKEELL 

       610        620 
DGEDYNFLQG ASDQESNGSA NFYIKQEP 

« Hide

Isoform 2 [UniParc].

Checksum: 8C3D0A97AABAAA82
Show »

FASTA16918,381
Isoform 3 [UniParc].

Checksum: 6E9C09639AC02CF3
Show »

FASTA41046,717

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Structural studies of a four-MBT repeat protein MBTD1."
Eryilmaz J., Pan P., Amaya M.F., Allali-Hassani A., Dong A., Adams-Cioaba M.A., Mackenzie F., Vedadi M., Min J.
PLoS ONE 4:E7274-E7274(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 130-566, SUBUNIT, FUNCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_060113.2. NM_017643.2.
XP_005257527.1. XM_005257470.1.
UniGeneHs.656803.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3FEOX-ray2.50A/B130-566[»]
4C5IX-ray2.59A/B130-566[»]
ProteinModelPortalQ05BQ5.
SMRQ05BQ5. Positions 52-88, 135-618.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120158. 6 interactions.
IntActQ05BQ5. 1 interaction.
STRING9606.ENSP00000262063.

Chemistry

BindingDBQ05BQ5.
ChEMBLCHEMBL1287625.

PTM databases

PhosphoSiteQ05BQ5.

Polymorphism databases

DMDM166232936.

Proteomic databases

PaxDbQ05BQ5.
PRIDEQ05BQ5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000376381; ENSP00000365561; ENSG00000011258.
ENST00000405860; ENSP00000386072; ENSG00000011258. [Q05BQ5-2]
ENST00000415868; ENSP00000403946; ENSG00000011258. [Q05BQ5-1]
ENST00000586178; ENSP00000468304; ENSG00000011258. [Q05BQ5-1]
GeneID54799.
KEGGhsa:54799.
UCSCuc002itp.4. human. [Q05BQ5-3]
uc002itq.4. human. [Q05BQ5-1]

Organism-specific databases

CTD54799.
GeneCardsGC17M049254.
H-InvDBHIX0013996.
HGNCHGNC:19866. MBTD1.
HPAHPA021876.
neXtProtNX_Q05BQ5.
PharmGKBPA134938339.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG271713.
HOGENOMHOG000231220.
HOVERGENHBG057974.
OMASLDFWCN.
OrthoDBEOG7M98G1.
PhylomeDBQ05BQ5.

Gene expression databases

ArrayExpressQ05BQ5.
BgeeQ05BQ5.
CleanExHS_MBTD1.
GenevestigatorQ05BQ5.

Family and domain databases

InterProIPR004092. Mbt.
IPR012313. Znf_FCS.
[Graphical view]
PfamPF02820. MBT. 4 hits.
[Graphical view]
SMARTSM00561. MBT. 4 hits.
[Graphical view]
PROSITEPS51079. MBT. 4 hits.
PS51024. ZF_FCS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMBTD1. human.
EvolutionaryTraceQ05BQ5.
GenomeRNAi54799.
NextBio57487.
PROQ05BQ5.

Entry information

Entry nameMBTD1_HUMAN
AccessionPrimary (citable) accession number: Q05BQ5
Secondary accession number(s): Q6ZVU7, Q9NXU1
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: April 16, 2014
This is version 67 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM