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Q92988

- DLX4_HUMAN

UniProt

Q92988 - DLX4_HUMAN

Protein

Homeobox protein DLX-4

Gene

DLX4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 128 (01 Oct 2014)
      Sequence version 4 (24 Jan 2006)
      Previous versions | rss
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    Functioni

    May play a role in determining the production of hemoglobin S. May act as a repressor.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi117 – 17660HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. sequence-specific DNA binding Source: MGI
    3. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    4. transcription regulatory region sequence-specific DNA binding Source: InterPro

    GO - Biological processi

    1. multicellular organismal development Source: UniProtKB-KW
    2. regulation of transcription, DNA-templated Source: UniProtKB

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein DLX-4
    Alternative name(s):
    Beta protein 1
    Homeobox protein DLX-7
    Homeobox protein DLX-8
    Gene namesi
    Name:DLX4
    Synonyms:BP1, DLX7, DLX8, DLX9
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:2917. DLX4.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA27372.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 240240Homeobox protein DLX-4PRO_0000049028Add
    BLAST

    Proteomic databases

    PaxDbiQ92988.
    PRIDEiQ92988.

    Expressioni

    Tissue specificityi

    Expressed in leukemia cells and placenta. Also expressed in kidney and fetal liver.2 Publications

    Gene expression databases

    BgeeiQ92988.
    CleanExiHS_DLX4.
    GenevestigatoriQ92988.

    Organism-specific databases

    HPAiHPA059933.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    NCK1P163333EBI-1752755,EBI-389883
    SMAD4Q134855EBI-1752755,EBI-347263
    SP1P080474EBI-1752755,EBI-298336

    Protein-protein interaction databases

    BioGridi108092. 2 interactions.
    IntActiQ92988. 13 interactions.
    MINTiMINT-6489135.
    STRINGi9606.ENSP00000240306.

    Structurei

    3D structure databases

    ProteinModelPortaliQ92988.
    SMRiQ92988. Positions 118-174.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG240888.
    HOVERGENiHBG005493.
    InParanoidiQ92988.
    KOiK09314.
    OMAiYSGPYGH.
    OrthoDBiEOG7ZKSC1.
    PhylomeDBiQ92988.
    TreeFamiTF315720.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00024. HOMEOBOX.
    PR00031. HTHREPRESSR.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

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

    Isoform 1 (identifier: Q92988-1) [UniParc]FASTAAdd to Basket

    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

    MTSLPCPLPG RDASKAVFPD LAPVPSVAAA YPLGLSPTTA ASPNLSYSRP    50
    YGHLLSYPYT EPANPGDSYL SCQQPAALSQ PLCGPAEHPQ ELEADSEKPR 100
    LSPEPSERRP QAPAKKLRKP RTIYSSLQLQ HLNQRFQHTQ YLALPERAQL 150
    AAQLGLTQTQ VKIWFQNKRS KYKKLLKQNS GGQEGDFPGR TFSVSPCSPP 200
    LPSLWDLPKA GTLPTSGYGN SFGAWYQHHS SDVLASPQMM 240
    Length:240
    Mass (Da):26,263
    Last modified:January 24, 2006 - v4
    Checksum:i18EE52CF20C126EB
    GO
    Isoform 2 (identifier: Q92988-2) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:168
    Mass (Da):18,882
    Checksum:i4FFAE12F68694521
    GO
    Isoform 3 (identifier: Q92988-3) [UniParc]FASTAAdd to Basket

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

    Show »
    Length:114
    Mass (Da):12,713
    Checksum:iCF4057EAB2FE0B0B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1 – 9494MTSLP…QELEA → GGSLSLPPEPLCARCPTKEG AAPRRPGFWGSLETQAATVW RGRHGHFSCRVRLSRGAARY SRRGQGKPGVTISAARLVFK VLSAGPLTHPAGRSRRLPRG HRLKPLSIALSLCLQCPSSV ISRPRLSPGPSLSAPPYPKL APPPVAELRPPTAGAAVPWL WPSARFLPRVTGPIRVGAPL GAELRLVSPGAVNVGVETLH AE(PubMed:9073066)CuratedAdd
    BLAST
    Sequence conflicti113 – 1131P → A in AAC50942. (PubMed:8975708)Curated
    Sequence conflicti203 – 2031S → Y in AAC50942. (PubMed:8975708)Curated
    Sequence conflicti224 – 2241A → P in AAC50942. (PubMed:8975708)Curated
    Sequence conflicti235 – 2351Missing in AAC50942. (PubMed:8975708)Curated
    Isoform 2 (identifier: Q92988-2)
    Sequence conflicti8 – 81P → H in AAC50942. (PubMed:8975708)Curated
    Sequence conflicti15 – 151Y → N in AAC50942. (PubMed:8975708)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 9494MTSLP…QELEA → MKLSVLPPRSLLAPYTVLCC PP in isoform 2 and isoform 3. 2 PublicationsVSP_002236Add
    BLAST
    Alternative sequencei162 – 24079KIWFQ…SPQMM → GPVSSFPISHLPWFSGNSSP SPSCE in isoform 3. 1 PublicationVSP_017043Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS11555.1. [Q92988-1]
    CCDS45728.1. [Q92988-2]
    PIRiG01958.
    RefSeqiNP_001925.2. NM_001934.3. [Q92988-2]
    NP_612138.1. NM_138281.2. [Q92988-1]
    UniGeneiHs.591167.

    Genome annotation databases

    EnsembliENST00000240306; ENSP00000240306; ENSG00000108813. [Q92988-1]
    ENST00000411890; ENSP00000410622; ENSG00000108813. [Q92988-2]
    GeneIDi1748.
    KEGGihsa:1748.
    UCSCiuc002ipv.3. human. [Q92988-1]
    uc002ipw.3. human. [Q92988-2]
    uc021tzu.1. human. [Q92988-3]

    Polymorphism databases

    DMDMi85700416.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS11555.1. [Q92988-1 ]
    CCDS45728.1. [Q92988-2 ]
    PIRi G01958.
    RefSeqi NP_001925.2. NM_001934.3. [Q92988-2 ]
    NP_612138.1. NM_138281.2. [Q92988-1 ]
    UniGenei Hs.591167.

    3D structure databases

    ProteinModelPortali Q92988.
    SMRi Q92988. Positions 118-174.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108092. 2 interactions.
    IntActi Q92988. 13 interactions.
    MINTi MINT-6489135.
    STRINGi 9606.ENSP00000240306.

    Polymorphism databases

    DMDMi 85700416.

    Proteomic databases

    PaxDbi Q92988.
    PRIDEi Q92988.

    Protocols and materials databases

    DNASUi 1748.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000240306 ; ENSP00000240306 ; ENSG00000108813 . [Q92988-1 ]
    ENST00000411890 ; ENSP00000410622 ; ENSG00000108813 . [Q92988-2 ]
    GeneIDi 1748.
    KEGGi hsa:1748.
    UCSCi uc002ipv.3. human. [Q92988-1 ]
    uc002ipw.3. human. [Q92988-2 ]
    uc021tzu.1. human. [Q92988-3 ]

    Organism-specific databases

    CTDi 1748.
    GeneCardsi GC17P048046.
    HGNCi HGNC:2917. DLX4.
    HPAi HPA059933.
    MIMi 601911. gene.
    neXtProti NX_Q92988.
    PharmGKBi PA27372.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG240888.
    HOVERGENi HBG005493.
    InParanoidi Q92988.
    KOi K09314.
    OMAi YSGPYGH.
    OrthoDBi EOG7ZKSC1.
    PhylomeDBi Q92988.
    TreeFami TF315720.

    Miscellaneous databases

    GeneWikii DLX4.
    GenomeRNAii 1748.
    NextBioi 7091.
    PROi Q92988.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q92988.
    CleanExi HS_DLX4.
    Genevestigatori Q92988.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00024. HOMEOBOX.
    PR00031. HTHREPRESSR.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. 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. 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. 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. 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.

    Entry informationi

    Entry nameiDLX4_HUMAN
    AccessioniPrimary (citable) accession number: Q92988
    Secondary accession number(s): D3DTX2
    , D3DTX3, O60480, Q13265, Q6PJK0, Q9HBE0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: January 24, 2006
    Last modified: October 1, 2014
    This is version 128 of the entry and version 4 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 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3