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Q8NFW5

- DMBX1_HUMAN

UniProt

Q8NFW5 - DMBX1_HUMAN

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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

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
Complete GO annotation...

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-KW
  2. transcription factor complex Source: Ensembl
Complete GO annotation...

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.
GeneTreeiENSGT00760000118908.
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

        10         20         30         40         50
MQHYGVNGYS LHAMNSLSAM YNLHQQAAQQ AQHAPDYRPS VHALTLAERL
60 70 80 90 100
AGCTFQDIIL EARYGSQHRK QRRSRTAFTA QQLEALEKTF QKTHYPDVVM
110 120 130 140 150
RERLAMCTNL PEARVQVWFK NRRAKFRKKQ RSLQKEQLQK QKEAEGSHGE
160 170 180 190 200
GKAEAPTPDT QLDTEQPPRL PGSDPPAELH LSLSEQSASE SAPEDQPDRE
210 220 230 240 250
EDPRAGAEDP KAEKSPGADS KGLGCKRGSP KADSPGSLTI TPVAPGGGLL
260 270 280 290 300
GPSHSYSSSP LSLFRLQEQF RQHMAATNNL VHYSSFEVGG PAPAAAAAAA
310 320 330 340 350
AVPYLGVNMA PLGSLHCQSY YQSLSAAAAA HQGVWGSPLL PAPPAGLAPA
360 370 380
SATLNSKTTS IENLRLRAKQ HAASLGLDTL PN
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. Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00760000118908.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 106 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