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Protein

Diencephalon/mesencephalon homeobox protein 1

Gene

DMBX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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)DescriptionActionsGraphical viewLength
DNA bindingi71 – 130HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:G66-31541-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:19026. DMBX1.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotationBy similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi127343.
OpenTargetsiENSG00000197587.
PharmGKBiPA38780.

Polymorphism and mutation databases

BioMutaiDMBX1.
DMDMi74762571.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002629541 – 382Diencephalon/mesencephalon homeobox protein 1Add BLAST382

Proteomic databases

PaxDbiQ8NFW5.
PeptideAtlasiQ8NFW5.
PRIDEiQ8NFW5.

PTM databases

iPTMnetiQ8NFW5.
PhosphoSitePlusiQ8NFW5.

Expressioni

Gene expression databases

BgeeiENSG00000197587.
CleanExiHS_DMBX1.
GenevisibleiQ8NFW5. HS.

Organism-specific databases

HPAiHPA026811.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi126053. 1 interactor.
STRINGi9606.ENSP00000353132.

Structurei

3D structure databases

ProteinModelPortaliQ8NFW5.
SMRiQ8NFW5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 156Interaction with OTX2 and is required for repressor activityBy similarityAdd BLAST156

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi359 – 372OARPROSITE-ProRule annotationAdd BLAST14

Sequence similaritiesi

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

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00820000126963.
HOGENOMiHOG000261650.
HOVERGENiHBG061416.
InParanoidiQ8NFW5.
OMAiDINSTTW.
OrthoDBiEOG091G0EWK.
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. AlignAdd to basket

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 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti227R → K in BAC00920 (PubMed:12055180).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049578205A → P.Corresponds to variant rs34614765dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05225152 – 56Missing in isoform 2. 2 Publications5

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_011538970.1. XM_011540668.2. [Q8NFW5-2]
XP_016855778.1. XM_017000289.1. [Q8NFW5-2]
UniGeneiHs.375623.

Genome annotation databases

EnsembliENST00000360032; ENSP00000353132; ENSG00000197587. [Q8NFW5-2]
ENST00000371956; ENSP00000361024; ENSG00000197587. [Q8NFW5-1]
GeneIDi127343.
KEGGihsa:127343.
UCSCiuc001cpw.4. human. [Q8NFW5-1]

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.
CCDSiCCDS536.1. [Q8NFW5-2]
RefSeqiNP_671725.1. NM_147192.2. [Q8NFW5-1]
NP_757379.1. NM_172225.1. [Q8NFW5-2]
XP_011538970.1. XM_011540668.2. [Q8NFW5-2]
XP_016855778.1. XM_017000289.1. [Q8NFW5-2]
UniGeneiHs.375623.

3D structure databases

ProteinModelPortaliQ8NFW5.
SMRiQ8NFW5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126053. 1 interactor.
STRINGi9606.ENSP00000353132.

PTM databases

iPTMnetiQ8NFW5.
PhosphoSitePlusiQ8NFW5.

Polymorphism and mutation databases

BioMutaiDMBX1.
DMDMi74762571.

Proteomic databases

PaxDbiQ8NFW5.
PeptideAtlasiQ8NFW5.
PRIDEiQ8NFW5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360032; ENSP00000353132; ENSG00000197587. [Q8NFW5-2]
ENST00000371956; ENSP00000361024; ENSG00000197587. [Q8NFW5-1]
GeneIDi127343.
KEGGihsa:127343.
UCSCiuc001cpw.4. human. [Q8NFW5-1]

Organism-specific databases

CTDi127343.
DisGeNETi127343.
GeneCardsiDMBX1.
HGNCiHGNC:19026. DMBX1.
HPAiHPA026811.
MIMi607410. gene.
neXtProtiNX_Q8NFW5.
OpenTargetsiENSG00000197587.
PharmGKBiPA38780.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00820000126963.
HOGENOMiHOG000261650.
HOVERGENiHBG061416.
InParanoidiQ8NFW5.
OMAiDINSTTW.
OrthoDBiEOG091G0EWK.
PhylomeDBiQ8NFW5.
TreeFamiTF351609.

Enzyme and pathway databases

BioCyciZFISH:G66-31541-MONOMER.

Miscellaneous databases

GenomeRNAii127343.
PROiQ8NFW5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197587.
CleanExiHS_DMBX1.
GenevisibleiQ8NFW5. HS.

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]
ProtoNetiSearch...

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: November 2, 2016
This is version 121 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

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.