Q8NFW5 (DMBX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	382 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	adult feeding behavior Inferred from electronic annotation. Source: Compara adult locomotory behavior Inferred from electronic annotation. Source: Compara brain 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: Compara negative regulation of transcription, DNA-dependent Inferred from sequence or structural similarity. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	transcription factor complex Inferred from electronic annotation. Source: Compara
Molecular_function	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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 382	382	Diencephalon/mesencephalon homeobox protein 1		PRO_0000262954
Regions
	DNA binding	71 – 130	60	Homeobox
	Region	1 – 156	156	Interacts with OXT2 and is required for repressor activity By similarity UniProtKB Q91ZK4
	Motif	359 – 372	14	OAR
Natural variations
	Alternative sequence	52 – 56	5	Missing in isoform 2. Ref.1 Ref.2		VSP_052251
	Natural variant	205	1	A → P. Corresponds to variant rs34614765 [ dbSNP | Ensembl ].		VAR_049578
Experimental info
	Sequence conflict	227	1	R → K in BAC00920. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (MBX-L) [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 8119E5351E026BFE	FASTA	382	41,198
	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
	Isoform 2 (MBX-S) [UniParc]. Checksum: 2680F07C25C3022A	FASTA	377	40,662
	10 20 30 40 50 60 MQHYGVNGYS LHAMNSLSAM YNLHQQAAQQ AQHAPDYRPS VHALTLAERL ADIILEARYG 70 80 90 100 110 120 SQHRKQRRSR TAFTAQQLEA LEKTFQKTHY PDVVMRERLA MCTNLPEARV QVWFKNRRAK 130 140 150 160 170 180 FRKKQRSLQK EQLQKQKEAE GSHGEGKAEA PTPDTQLDTE QPPRLPGSDP PAELHLSLSE 190 200 210 220 230 240 QSASESAPED QPDREEDPRA GAEDPKAEKS PGADSKGLGC KRGSPKADSP GSLTITPVAP 250 260 270 280 290 300 GGGLLGPSHS YSSSPLSLFR LQEQFRQHMA ATNNLVHYSS FEVGGPAPAA AAAAAAVPYL 310 320 330 340 350 360 GVNMAPLGSL HCQSYYQSLS AAAAAHQGVW GSPLLPAPPA GLAPASATLN SKTTSIENLR 370 LRAKQHAASL GLDTLPN

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00219522. IPI00335270.
RefSeq	NP_671725.1. NM_147192.2. NP_757379.1. NM_172225.1.
UniGene	Hs.375623.
3D structure databases
HSSP	HSSP built from PDB template 1FJL based on UniProtKB P06601.
ProteinModelPortal	Q8NFW5.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000353132.
PTM databases
PhosphoSite	Q8NFW5.
Polymorphism databases
DMDM	74762571.
Proteomic databases
PaxDb	Q8NFW5.
PRIDE	Q8NFW5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000360032; ENSP00000353132; ENSG00000197587. ENST00000371956; ENSP00000361024; ENSG00000197587.
GeneID	127343.
KEGG	hsa:127343.
UCSC	uc001cpw.3. human. uc001cpx.3. human.
Organism-specific databases
CTD	127343.
GeneCards	GC01P046974.
HGNC	HGNC:19026. DMBX1.
HPA	HPA026811.
MIM	607410. gene.
neXtProt	NX_Q8NFW5.
PharmGKB	PA38780.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG238265.
HOGENOM	HOG000261650.
HOVERGEN	HBG061416.
InParanoid	Q8NFW5.
OMA	PDTQLDT.
Gene expression databases
Bgee	Q8NFW5.
CleanEx	HS_DMBX1.
Genevestigator	Q8NFW5.
GermOnline	ENSG00000197587. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR001356. Homeodomain. IPR009057. Homeodomain-like. IPR003654. OAR_dom. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. PF03826. OAR. 1 hit. [Graphical view]
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. PS50803. OAR. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	127343.
NextBio	82068.
SOURCE	Search...

Entry information

Entry name

DMBX1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 93 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.