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Q92988 (DLX4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 127. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length240 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

Binary interactions

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 240240Homeobox protein DLX-4
PRO_0000049028

Regions

DNA binding117 – 17660Homeobox

Natural variations

Alternative sequence1 – 9494MTSLP…QELEA → MKLSVLPPRSLLAPYTVLCC PP in isoform 2 and isoform 3.
VSP_002236
Alternative sequence162 – 24079KIWFQ…SPQMM → GPVSSFPISHLPWFSGNSSP SPSCE in isoform 3.
VSP_017043

Experimental info

Sequence conflict1 – 9494MTSLP…QELEA → GGSLSLPPEPLCARCPTKEG AAPRRPGFWGSLETQAATVW RGRHGHFSCRVRLSRGAARY SRRGQGKPGVTISAARLVFK VLSAGPLTHPAGRSRRLPRG HRLKPLSIALSLCLQCPSSV ISRPRLSPGPSLSAPPYPKL APPPVAELRPPTAGAAVPWL WPSARFLPRVTGPIRVGAPL GAELRLVSPGAVNVGVETLH AE Ref.9
Sequence conflict1131P → A in AAC50942. Ref.1
Sequence conflict2031S → Y in AAC50942. Ref.1
Sequence conflict2241A → P in AAC50942. Ref.1
Sequence conflict2351Missing in AAC50942. Ref.1
Isoform 2:
Sequence conflict81P → H in AAC50942. Ref.1
Sequence conflict151Y → N in AAC50942. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 24, 2006. Version 4.
Checksum: 18EE52CF20C126EB

FASTA24026,263
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 4FFAE12F68694521
Show »

FASTA16818,882
Isoform 3 [UniParc].

Checksum: CF4057EAB2FE0B0B
Show »

FASTA11412,713

References

« Hide '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. expand/collapse author list , 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.
CCDSCCDS11555.1. [Q92988-1]
CCDS45728.1. [Q92988-2]
PIRG01958.
RefSeqNP_001925.2. NM_001934.3. [Q92988-2]
NP_612138.1. NM_138281.2. [Q92988-1]
UniGeneHs.591167.

3D structure databases

ProteinModelPortalQ92988.
SMRQ92988. Positions 118-174.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108092. 2 interactions.
IntActQ92988. 13 interactions.
MINTMINT-6489135.
STRING9606.ENSP00000240306.

Polymorphism databases

DMDM85700416.

Proteomic databases

PaxDbQ92988.
PRIDEQ92988.

Protocols and materials databases

DNASU1748.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000240306; ENSP00000240306; ENSG00000108813. [Q92988-1]
ENST00000411890; ENSP00000410622; ENSG00000108813. [Q92988-2]
GeneID1748.
KEGGhsa:1748.
UCSCuc002ipv.3. human. [Q92988-1]
uc002ipw.3. human. [Q92988-2]
uc021tzu.1. human. [Q92988-3]

Organism-specific databases

CTD1748.
GeneCardsGC17P048046.
HGNCHGNC:2917. DLX4.
HPAHPA059933.
MIM601911. gene.
neXtProtNX_Q92988.
PharmGKBPA27372.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG240888.
HOVERGENHBG005493.
InParanoidQ92988.
KOK09314.
OMAYSGPYGH.
OrthoDBEOG7ZKSC1.
PhylomeDBQ92988.
TreeFamTF315720.

Gene expression databases

BgeeQ92988.
CleanExHS_DLX4.
GenevestigatorQ92988.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSPR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiDLX4.
GenomeRNAi1748.
NextBio7091.
PROQ92988.
SOURCESearch...

Entry information

Entry nameDLX4_HUMAN
AccessionPrimary (citable) accession number: Q92988
Secondary accession number(s): D3DTX2 expand/collapse secondary AC list , D3DTX3, O60480, Q13265, Q6PJK0, Q9HBE0
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: January 24, 2006
Last modified: July 9, 2014
This is version 127 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM