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Q8NFW5 (DMBX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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:
Diencephalon/mesencephalon homeobox protein 1
Alternative name(s):
Orthodenticle homolog 3
Paired-like homeobox protein DMBX1
Gene names
Name:DMBX1
Synonyms:MBX, OTX3, PAXB
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length382 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Functions as a transcriptional repressor. May repress OTX2-mediated transactivation by forming a heterodimer with OTX2 on the P3C (5'-TAATCCGATTA-3') sequence. Required for brain development By similarity.

Subunit structure

Homodimer or heterodimer. Forms heterodimers with OTX2 By similarity. UniProtKB Q91ZK4

Subcellular location

Nucleus By similarity UniProtKB O35137.

Sequence similarities

Belongs to the paired homeobox family.

Contains 1 homeobox DNA-binding domain.

Sequence caution

The sequence BAC00920.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainHomeobox
   LigandDNA-binding
   Molecular functionDevelopmental protein
Repressor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processadult feeding behavior

Inferred from electronic annotation. Source: Ensembl

adult locomotory behavior

Inferred from electronic annotation. Source: Ensembl

brain development

Inferred from sequence or structural similarity. Source: UniProtKB

central nervous system development

Inferred from sequence or structural similarity. Source: UniProtKB

developmental growth

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription, DNA-templated

Inferred from sequence or structural similarity. Source: UniProtKB

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

transcription factor complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionDNA binding

Inferred from sequence or structural similarity. Source: UniProtKB

sequence-specific DNA binding

Inferred from sequence or structural similarity. Source: UniProtKB

sequence-specific DNA binding transcription factor activity

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 Ref.1 (identifier: Q8NFW5-1)

Also known as: MBX-L;

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 Ref.1 Ref.2 (identifier: Q8NFW5-2)

Also known as: MBX-S;

The sequence of this isoform differs from the canonical sequence as follows:
     52-56: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 382382Diencephalon/mesencephalon homeobox protein 1
PRO_0000262954

Regions

DNA binding71 – 13060Homeobox
Region1 – 156156Interacts with OXT2 and is required for repressor activity By similarity UniProtKB Q91ZK4
Motif359 – 37214OAR

Natural variations

Alternative sequence52 – 565Missing in isoform 2. Ref.1 Ref.2
VSP_052251
Natural variant2051A → P.
Corresponds to variant rs34614765 [ dbSNP | Ensembl ].
VAR_049578

Experimental info

Sequence conflict2271R → K in BAC00920. Ref.2

Sequences

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

Last modified October 1, 2002. Version 1.
Checksum: 8119E5351E026BFE

FASTA38241,198
        10         20         30         40         50         60 
MQHYGVNGYS LHAMNSLSAM YNLHQQAAQQ AQHAPDYRPS VHALTLAERL AGCTFQDIIL 

        70         80         90        100        110        120 
EARYGSQHRK QRRSRTAFTA QQLEALEKTF QKTHYPDVVM RERLAMCTNL PEARVQVWFK 

       130        140        150        160        170        180 
NRRAKFRKKQ RSLQKEQLQK QKEAEGSHGE GKAEAPTPDT QLDTEQPPRL PGSDPPAELH 

       190        200        210        220        230        240 
LSLSEQSASE SAPEDQPDRE EDPRAGAEDP KAEKSPGADS KGLGCKRGSP KADSPGSLTI 

       250        260        270        280        290        300 
TPVAPGGGLL GPSHSYSSSP LSLFRLQEQF RQHMAATNNL VHYSSFEVGG PAPAAAAAAA 

       310        320        330        340        350        360 
AVPYLGVNMA PLGSLHCQSY YQSLSAAAAA HQGVWGSPLL PAPPAGLAPA SATLNSKTTS 

       370        380 
IENLRLRAKQ HAASLGLDTL PN 

« Hide

Isoform 2 (MBX-S) [UniParc].

Checksum: 2680F07C25C3022A
Show »

FASTA37740,662

References

« Hide 'large scale' references
[1]"The homeobox gene mbx is involved in eye and tectum development."
Kawahara A., Chien C.-B., Dawid I.B.
Dev. Biol. 248:107-117(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
Tissue: Fetus.
[2]"Identification, tissue expression, and functional characterization of Otx3, a novel member of the Otx family."
Zhang Y., Miki T., Iwanaga T., Koseki Y., Okuno M., Sunaga Y., Ozaki N., Yano H., Koseki H., Seino S.
J. Biol. Chem. 277:28065-28069(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Fetal brain.
[3]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]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].
[5]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF398527 mRNA. Translation: AAM90589.1.
AF398528 mRNA. Translation: AAM90590.1.
AB037699 mRNA. Translation: BAC00920.1. Different initiation.
AL137797 Genomic DNA. Translation: CAI19184.1.
AL137797 Genomic DNA. Translation: CAI19185.1.
CH471059 Genomic DNA. Translation: EAX06907.1.
CCDSCCDS536.1. [Q8NFW5-2]
RefSeqNP_671725.1. NM_147192.2. [Q8NFW5-1]
NP_757379.1. NM_172225.1. [Q8NFW5-2]
XP_006710418.1. XM_006710355.1. [Q8NFW5-2]
UniGeneHs.375623.

3D structure databases

ProteinModelPortalQ8NFW5.
SMRQ8NFW5. Positions 78-127.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126053. 1 interaction.
STRING9606.ENSP00000353132.

PTM databases

PhosphoSiteQ8NFW5.

Polymorphism databases

DMDM74762571.

Proteomic databases

PaxDbQ8NFW5.
PRIDEQ8NFW5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000360032; ENSP00000353132; ENSG00000197587. [Q8NFW5-2]
ENST00000371956; ENSP00000361024; ENSG00000197587. [Q8NFW5-1]
GeneID127343.
KEGGhsa:127343.
UCSCuc001cpw.3. human. [Q8NFW5-2]
uc001cpx.3. human. [Q8NFW5-1]

Organism-specific databases

CTD127343.
GeneCardsGC01P046974.
HGNCHGNC:19026. DMBX1.
HPAHPA026811.
MIM607410. gene.
neXtProtNX_Q8NFW5.
PharmGKBPA38780.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG238265.
HOGENOMHOG000261650.
HOVERGENHBG061416.
InParanoidQ8NFW5.
OMAQLETEQP.
OrthoDBEOG7D2FF8.
PhylomeDBQ8NFW5.
TreeFamTF351609.

Gene expression databases

BgeeQ8NFW5.
CleanExHS_DMBX1.
GenevestigatorQ8NFW5.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi127343.
NextBio82068.
PROQ8NFW5.
SOURCESearch...

Entry information

Entry nameDMBX1_HUMAN
AccessionPrimary (citable) accession number: Q8NFW5
Secondary accession number(s): A6NNN2, Q8NFW6, Q8NHD9
Entry history
Integrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 104 of the entry and version 1 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM