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Q8NFW5

- DMBX1_HUMAN

UniProt

Q8NFW5 - DMBX1_HUMAN

Protein

Diencephalon/mesencephalon homeobox protein 1

Gene

DMBX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    Functioni

    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.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi71 – 13060HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB
    2. sequence-specific DNA binding Source: UniProtKB
    3. sequence-specific DNA binding transcription factor activity Source: UniProtKB

    GO - Biological processi

    1. adult feeding behavior Source: Ensembl
    2. adult locomotory behavior Source: Ensembl
    3. brain development Source: UniProtKB
    4. central nervous system development Source: UniProtKB
    5. developmental growth Source: UniProtKB
    6. negative regulation of transcription, DNA-templated Source: UniProtKB
    7. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    8. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein, Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Diencephalon/mesencephalon homeobox protein 1
    Alternative name(s):
    Orthodenticle homolog 3
    Paired-like homeobox protein DMBX1
    Gene namesi
    Name:DMBX1Imported
    Synonyms:MBX1 Publication, OTX3, PAXBImported
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:19026. DMBX1.

    Subcellular locationi

    Nucleus By similarityPROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell
    2. transcription factor complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38780.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 382382Diencephalon/mesencephalon homeobox protein 1PRO_0000262954Add
    BLAST

    Proteomic databases

    PaxDbiQ8NFW5.
    PRIDEiQ8NFW5.

    PTM databases

    PhosphoSiteiQ8NFW5.

    Expressioni

    Gene expression databases

    BgeeiQ8NFW5.
    CleanExiHS_DMBX1.
    GenevestigatoriQ8NFW5.

    Organism-specific databases

    HPAiHPA026811.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi126053. 1 interaction.
    STRINGi9606.ENSP00000353132.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NFW5.
    SMRiQ8NFW5. Positions 78-127.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 156156Interacts with OXT2 and is required for repressor activityBy similarityAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi359 – 37214OARSequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the paired homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG238265.
    HOGENOMiHOG000261650.
    HOVERGENiHBG061416.
    InParanoidiQ8NFW5.
    OMAiQLETEQP.
    OrthoDBiEOG7D2FF8.
    PhylomeDBiQ8NFW5.
    TreeFamiTF351609.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR003654. OAR_dom.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    PF03826. OAR. 1 hit.
    [Graphical view]
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    PS50803. OAR. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 11 Publication (identifier: Q8NFW5-1) [UniParc]FASTAAdd to Basket

    Also known as: MBX-LImported

    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

    MQHYGVNGYS LHAMNSLSAM YNLHQQAAQQ AQHAPDYRPS VHALTLAERL    50
    AGCTFQDIIL EARYGSQHRK QRRSRTAFTA QQLEALEKTF QKTHYPDVVM 100
    RERLAMCTNL PEARVQVWFK NRRAKFRKKQ RSLQKEQLQK QKEAEGSHGE 150
    GKAEAPTPDT QLDTEQPPRL PGSDPPAELH LSLSEQSASE SAPEDQPDRE 200
    EDPRAGAEDP KAEKSPGADS KGLGCKRGSP KADSPGSLTI TPVAPGGGLL 250
    GPSHSYSSSP LSLFRLQEQF RQHMAATNNL VHYSSFEVGG PAPAAAAAAA 300
    AVPYLGVNMA PLGSLHCQSY YQSLSAAAAA HQGVWGSPLL PAPPAGLAPA 350
    SATLNSKTTS IENLRLRAKQ HAASLGLDTL PN 382
    Length:382
    Mass (Da):41,198
    Last modified:October 1, 2002 - v1
    Checksum:i8119E5351E026BFE
    GO
    Isoform 22 Publications (identifier: Q8NFW5-2) [UniParc]FASTAAdd to Basket

    Also known as: MBX-SImported

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

    Show »
    Length:377
    Mass (Da):40,662
    Checksum:i2680F07C25C3022A
    GO

    Sequence cautioni

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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti227 – 2271R → K in BAC00920. (PubMed:12055180)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti205 – 2051A → P.
    Corresponds to variant rs34614765 [ dbSNP | Ensembl ].
    VAR_049578

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei52 – 565Missing in isoform 2. 2 PublicationsVSP_052251

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS536.1. [Q8NFW5-2]
    RefSeqiNP_671725.1. NM_147192.2. [Q8NFW5-1]
    NP_757379.1. NM_172225.1. [Q8NFW5-2]
    XP_006710418.1. XM_006710355.1. [Q8NFW5-2]
    UniGeneiHs.375623.

    Genome annotation databases

    EnsembliENST00000360032; ENSP00000353132; ENSG00000197587. [Q8NFW5-2]
    ENST00000371956; ENSP00000361024; ENSG00000197587. [Q8NFW5-1]
    GeneIDi127343.
    KEGGihsa:127343.
    UCSCiuc001cpw.3. human. [Q8NFW5-2]
    uc001cpx.3. human. [Q8NFW5-1]

    Polymorphism databases

    DMDMi74762571.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS536.1. [Q8NFW5-2 ]
    RefSeqi NP_671725.1. NM_147192.2. [Q8NFW5-1 ]
    NP_757379.1. NM_172225.1. [Q8NFW5-2 ]
    XP_006710418.1. XM_006710355.1. [Q8NFW5-2 ]
    UniGenei Hs.375623.

    3D structure databases

    ProteinModelPortali Q8NFW5.
    SMRi Q8NFW5. Positions 78-127.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126053. 1 interaction.
    STRINGi 9606.ENSP00000353132.

    PTM databases

    PhosphoSitei Q8NFW5.

    Polymorphism databases

    DMDMi 74762571.

    Proteomic databases

    PaxDbi Q8NFW5.
    PRIDEi Q8NFW5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000360032 ; ENSP00000353132 ; ENSG00000197587 . [Q8NFW5-2 ]
    ENST00000371956 ; ENSP00000361024 ; ENSG00000197587 . [Q8NFW5-1 ]
    GeneIDi 127343.
    KEGGi hsa:127343.
    UCSCi uc001cpw.3. human. [Q8NFW5-2 ]
    uc001cpx.3. human. [Q8NFW5-1 ]

    Organism-specific databases

    CTDi 127343.
    GeneCardsi GC01P046974.
    HGNCi HGNC:19026. DMBX1.
    HPAi HPA026811.
    MIMi 607410. gene.
    neXtProti NX_Q8NFW5.
    PharmGKBi PA38780.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG238265.
    HOGENOMi HOG000261650.
    HOVERGENi HBG061416.
    InParanoidi Q8NFW5.
    OMAi QLETEQP.
    OrthoDBi EOG7D2FF8.
    PhylomeDBi Q8NFW5.
    TreeFami TF351609.

    Miscellaneous databases

    GenomeRNAii 127343.
    NextBioi 82068.
    PROi Q8NFW5.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8NFW5.
    CleanExi HS_DMBX1.
    Genevestigatori Q8NFW5.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR003654. OAR_dom.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    PF03826. OAR. 1 hit.
    [Graphical view ]
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    PS50803. OAR. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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: Fetus1 Publication.
    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 brain1 Publication.
    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.
      , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.

    Entry informationi

    Entry nameiDMBX1_HUMAN
    AccessioniPrimary (citable) accession number: Q8NFW5
    Secondary accession number(s): A6NNN2, Q8NFW6, Q8NHD9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 28, 2006
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 105 of the entry and version 1 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: 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

    External Data

    Dasty 3