Q92988 (DLX4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein DLX-4

Alternative name(s):
Beta protein 1
Homeobox protein DLX-7
Homeobox protein DLX-8

Gene names

Name:	DLX4
Synonyms:	BP1, DLX7, DLX8, DLX9

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	240 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May play a role in determining the production of hemoglobin S. May act as a repressor. Ref.4
Subcellular location	Nucleus Potential.
Tissue specificity	Expressed in leukemia cells and placenta. Also expressed in kidney and fetal liver. Ref.3 Ref.4
Sequence similarities	Belongs to the distal-less homeobox family. Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Non-traceable author statement Ref.3. Source: UniProtKB
Molecular_function	sequence-specific DNA binding Inferred from direct assay Ref.9. Source: MGI sequence-specific DNA binding transcription factor activity Non-traceable author statement Ref.3. Source: UniProtKB transcription regulatory region sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
NCK1	P16333	3	EBI-1752755,EBI-389883
SMAD4	Q13485	5	EBI-1752755,EBI-347263
SP1	P08047	4	EBI-1752755,EBI-298336

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist. PubMed:9073066 (AAC51171) sequence may be an additional isoform.

Isoform 1 (identifier: Q92988-1)

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 (identifier: Q92988-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-94: MTSLPCPLPG...PAEHPQELEA → MKLSVLPPRSLLAPYTVLCCPP

Isoform 3 (identifier: Q92988-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-94: MTSLPCPLPG...PAEHPQELEA → MKLSVLPPRSLLAPYTVLCCPP
     162-240: KIWFQNKRSK...SDVLASPQMM → GPVSSFPISHLPWFSGNSSPSPSCE

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 240	240	Homeobox protein DLX-4		PRO_0000049028
Regions
	DNA binding	117 – 176	60	Homeobox
Natural variations
	Alternative sequence	1 – 94	94	MTSLP…QELEA → MKLSVLPPRSLLAPYTVLCC PP in isoform 2 and isoform 3.		VSP_002236
	Alternative sequence	162 – 240	79	KIWFQ…SPQMM → GPVSSFPISHLPWFSGNSSP SPSCE in isoform 3.		VSP_017043
Experimental info
	Sequence conflict	1 – 94	94	MTSLP…QELEA → GGSLSLPPEPLCARCPTKEG AAPRRPGFWGSLETQAATVW RGRHGHFSCRVRLSRGAARY SRRGQGKPGVTISAARLVFK VLSAGPLTHPAGRSRRLPRG HRLKPLSIALSLCLQCPSSV ISRPRLSPGPSLSAPPYPKL APPPVAELRPPTAGAAVPWL WPSARFLPRVTGPIRVGAPL GAELRLVSPGAVNVGVETLH AE Ref.9
	Sequence conflict	113	1	P → A in AAC50942. Ref.1
	Sequence conflict	203	1	S → Y in AAC50942. Ref.1
	Sequence conflict	224	1	A → P in AAC50942. Ref.1
	Sequence conflict	235	1	Missing in AAC50942. Ref.1
Isoform 2:
	Sequence conflict	8	1	P → H in AAC50942. Ref.1
	Sequence conflict	15	1	Y → N in AAC50942. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 24, 2006. Version 4. Checksum: 18EE52CF20C126EB	FASTA	240	26,263
	10 20 30 40 50 60 MTSLPCPLPG RDASKAVFPD LAPVPSVAAA YPLGLSPTTA ASPNLSYSRP YGHLLSYPYT 70 80 90 100 110 120 EPANPGDSYL SCQQPAALSQ PLCGPAEHPQ ELEADSEKPR LSPEPSERRP QAPAKKLRKP 130 140 150 160 170 180 RTIYSSLQLQ HLNQRFQHTQ YLALPERAQL AAQLGLTQTQ VKIWFQNKRS KYKKLLKQNS 190 200 210 220 230 240 GGQEGDFPGR TFSVSPCSPP LPSLWDLPKA GTLPTSGYGN SFGAWYQHHS SDVLASPQMM
	Isoform 2 [UniParc]. Checksum: 4FFAE12F68694521	FASTA	168	18,882
	10 20 30 40 50 60 MKLSVLPPRS LLAPYTVLCC PPDSEKPRLS PEPSERRPQA PAKKLRKPRT IYSSLQLQHL 70 80 90 100 110 120 NQRFQHTQYL ALPERAQLAA QLGLTQTQVK IWFQNKRSKY KKLLKQNSGG QEGDFPGRTF 130 140 150 160 SVSPCSPPLP SLWDLPKAGT LPTSGYGNSF GAWYQHHSSD VLASPQMM
	Isoform 3 [UniParc]. Checksum: CF4057EAB2FE0B0B	FASTA	114	12,713
	10 20 30 40 50 60 MKLSVLPPRS LLAPYTVLCC PPDSEKPRLS PEPSERRPQA PAKKLRKPRT IYSSLQLQHL 70 80 90 100 110 NQRFQHTQYL ALPERAQLAA QLGLTQTQVG PVSSFPISHL PWFSGNSSPS PSCE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Genomic analysis of a new mammalian distal-less gene: Dlx7." Nakamura S., Stock D.W., Wydner K.L., Bollekens J.A., Takeshita K., Nagai B.M., Chiba S., Kitamura T., Freeland T.M., Zhao Z., Minowada J., Lawrence J.B., Weiss K.M., Ruddle F.H. Genomics 38:314-324(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Leukemia.
[2]	"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].
[3]	"BP1, a new homeobox gene, is frequently expressed in acute leukemias." Haga S.B., Fu S., Karp J.E., Ross D.D., Williams D.M., Hankins W.D., Behm F., Ruscetti F.W., Chang M., Smith B.D., Becton D., Raimondi S.C., Berg P.E. Leukemia 14:1867-1875(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[4]	"BP1, a homeodomain-containing isoform of DLX4, represses the beta-globin gene." Chase M.B., Fu S., Haga S.B., Davenport G., Stevenson H., Do K., Morgan D., Mah A.L., Berg P.E. Mol. Cell. Biol. 22:2505-2514(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, FUNCTION.
[5]	"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.
[6]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[7]	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].
[8]	"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] (ISOFORMS 1 AND 3). Tissue: Placenta and Uterus.
[9]	"Isolation and identification of homeobox genes from the human placenta including a novel member of the Distal-less family, DLX4." Quinn L.M., Johnson B.V., Nicholl J., Sutherland G.R., Kalionis B. Gene 187:55-61(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-177. Tissue: Placenta.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U73328 mRNA. Translation: AAC50942.1. AF028235 Genomic DNA. Translation: AAC14398.1. AF254115 mRNA. Translation: AAG31975.1. AF452638 Genomic DNA. Translation: AAL99503.1. BT006978 mRNA. Translation: AAP35624.1. CH471109 Genomic DNA. Translation: EAW94651.1. CH471109 Genomic DNA. Translation: EAW94653.1. CH471109 Genomic DNA. Translation: EAW94654.1. CH471109 Genomic DNA. Translation: EAW94655.1. BC005812 mRNA. Translation: AAH05812.1. BC014419 mRNA. Translation: AAH14419.1. BC016145 mRNA. Translation: AAH16145.1. U31762 mRNA. Translation: AAC51171.1.
IPI	IPI00024380. IPI00219408. IPI00449036.
PIR	G01958.
RefSeq	NP_001925.2. NM_001934.3. NP_612138.1. NM_138281.2.
UniGene	Hs.591167.
3D structure databases
ProteinModelPortal	Q92988.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q92988. 12 interactions.
MINT	MINT-6489135.
STRING	9606.ENSP00000240306.
Polymorphism databases
DMDM	85700416.
Proteomic databases
PaxDb	Q92988.
PRIDE	Q92988.
Protocols and materials databases
DNASU	1748.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000240306; ENSP00000240306; ENSG00000108813. ENST00000411890; ENSP00000410622; ENSG00000108813.
GeneID	1748.
KEGG	hsa:1748.
UCSC	uc002ipv.3. human. uc002ipw.3. human. uc021tzu.1. human.
Organism-specific databases
CTD	1748.
GeneCards	GC17P048046.
HGNC	HGNC:2917. DLX4.
MIM	601911. gene.
neXtProt	NX_Q92988.
PharmGKB	PA27372.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG240888.
HOVERGEN	HBG005493.
InParanoid	Q92988.
KO	K09314.
OMA	YSGPYGH.
OrthoDB	EOG42822M.
Gene expression databases
Bgee	Q92988.
CleanEx	HS_DLX4.
Genevestigator	Q92988.
GermOnline	ENSG00000108813. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR020479. Homeobox_metazoa. IPR001356. Homeodomain. IPR009057. Homeodomain-like. IPR000047. HTH_motif. [Graphical view]
Pfam	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	1748.
NextBio	7091.
SOURCE	Search...

Entry information

Entry name

DLX4_HUMAN

Accession

Primary (citable) accession number: Q92988
Secondary accession number(s): D3DTX2 , D3DTX3, O60480, Q13265, Q6PJK0, Q9HBE0

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	January 24, 2006
Last modified:	May 1, 2013
This is version 115 of the entry and version 4 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.