O60479 (DLX3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein DLX-3

Gene names

Name:

DLX3

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	287 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Likely to play a regulatory role in the development of the ventral forebrain. May play a role in craniofacial patterning and morphogenesis.
Subcellular location	Nucleus Potential.
Involvement in disease	Trichodentoosseous syndrome (TDO) [MIM:190320]: Autosomal dominant syndrome characterized by enamel hypoplasia and hypocalcification with associated strikingly curly hair. Note: The disease is caused by mutations affecting the gene represented in this entry. Amelogenesis imperfecta 4 (AI4) [MIM:104510]: An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced. Note: The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarities	Belongs to the distal-less homeobox family. Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Cellular component	Nucleus
Disease	Amelogenesis imperfecta
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	blood vessel development Inferred from electronic annotation. Source: Compara placenta development Inferred from electronic annotation. Source: Compara
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	sequence-specific DNA binding transcription factor activity Traceable author statement Ref.1. Source: ProtInc transcription regulatory region sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 287	287	Homeobox protein DLX-3		PRO_0000049026
Regions
	DNA binding	129 – 188	60	Homeobox

Sequences

	Sequence		Length	Mass (Da)
	O60479 [UniParc]. Last modified August 1, 1998. Version 1. Checksum: DCA9716E51D78DD1	FASTA	287	31,738
	10 20 30 40 50 60 MSGSFDRKLS SILTDISSSL SCHAGSKDSP TLPESSVTDL GYYSAPQHDY YSGQPYGQTV 70 80 90 100 110 120 NPYTYHHQFN LNGLAGTGAY SPKSEYTYGA SYRQYGAYRE QPLPAQDPVS VKEEPEAEVR 130 140 150 160 170 180 MVNGKPKKVR KPRTIYSSYQ LAALQRRFQK AQYLALPERA ELAAQLGLTQ TQVKIWFQNR 190 200 210 220 230 240 RSKFKKLYKN GEVPLEHSPN NSDSMACNSP PSPALWDTSS HSTPAPARSQ LPPPLPYSAS 250 260 270 280 PSYLDDPTNS WYHAQNLSGP HLQQQPPQPA TLHHASPGPP PNPGAVY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome." Price J.A., Bowden D.W., Wright J.T., Pettenati M.J., Hart T.C. Hum. Mol. Genet. 7:563-569(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"Genomic structure and functional control of the Dlx3-7 bigene cluster." Sumiyama K., Irvine S.Q., Stock D.W., Weiss K.M., Kawasaki K., Shimizu N., Shashikant C.S., Miller W., Ruddle F.H. Proc. Natl. Acad. Sci. U.S.A. 99:780-785(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Foreskin.
[3]	"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T. DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Placenta.
[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]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Eye and Placenta.
[6]	"DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism." Dong J., Amor D., Aldred M.J., Gu T., Escamilla M., MacDougall M. Am. J. Med. Genet. A 133:138-141(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN AIHHT.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF028233 Genomic DNA. Translation: AAC14397.1. AF452638 Genomic DNA. Translation: AAL99504.1. AK075167 mRNA. Translation: BAG52078.1. CH471109 Genomic DNA. Translation: EAW94650.1. BC012361 mRNA. Translation: AAH12361.1. BC028970 mRNA. Translation: AAH28970.1.
IPI	IPI00029716.
RefSeq	NP_005211.1. NM_005220.2.
UniGene	Hs.134194.
3D structure databases
ProteinModelPortal	O60479.
ModBase	Search...
Protein-protein interaction databases
IntAct	O60479. 2 interactions.
STRING	9606.ENSP00000172196.
PTM databases
PhosphoSite	O60479.
Proteomic databases
PaxDb	O60479.
PRIDE	O60479.
Protocols and materials databases
DNASU	1747.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000434704; ENSP00000389870; ENSG00000064195.
GeneID	1747.
KEGG	hsa:1747.
UCSC	uc002ipy.3. human.
Organism-specific databases
CTD	1747.
GeneCards	GC17M048067.
HGNC	HGNC:2916. DLX3.
HPA	HPA031164.
MIM	104510. phenotype. 190320. phenotype. 600525. gene.
neXtProt	NX_O60479.
Orphanet	100034. Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism. 3352. Tricho-dento-osseous syndrome.
PharmGKB	PA27371.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG299102.
HOGENOM	HOG000231940.
HOVERGEN	HBG005493.
InParanoid	O60479.
KO	K09315.
OMA	SWYHTQN.
OrthoDB	EOG42Z4QW.
PhylomeDB	O60479.
Gene expression databases
ArrayExpress	O60479.
Bgee	O60479.
CleanEx	HS_DLX3.
Genevestigator	O60479.
GermOnline	ENSG00000064195. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR022135. Distal-less_N. IPR017970. Homeobox_CS. IPR020479. Homeobox_metazoa. IPR001356. Homeodomain. IPR009057. Homeodomain-like. IPR000047. HTH_motif. [Graphical view]
Pfam	PF12413. DLL_N. 1 hit. PF00046. Homeobox. 1 hit. [Graphical view]
PRINTS	PR00024. HOMEOBOX. PR00031. HTHREPRESSR.
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	1747.
NextBio	7087.
SOURCE	Search...

Entry information

Entry name

DLX3_HUMAN

Accession

Primary (citable) accession number: O60479
Secondary accession number(s): B3KQL6

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 15, 1998
Last sequence update:	August 1, 1998
Last modified:	May 1, 2013
This is version 113 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.