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    DLX4 distal-less homeobox 4 [ Homo sapiens (human) ]

    Gene ID: 1748, updated on 7-May-2017
    Official Symbol
    DLX4provided by HGNC
    Official Full Name
    distal-less homeobox 4provided by HGNC
    Primary source
    HGNC:HGNC:2917
    See related
    Ensembl:ENSG00000108813 MIM:601911; Vega:OTTHUMG00000161839
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BP1; DLX7; DLX8; DLX9; OFC15
    Summary
    Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the other isoform lacks that function. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    17q21.33
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (49968970..49974959)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48046562..48052323)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene MRT4 homolog, ribosome maturation factor pseudogene Neighboring gene RNA, U6 small nuclear 1313, pseudogene Neighboring gene distal-less homeobox 3 Neighboring gene p53-inducible cancer-associated RNA transcript 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Preferred Names
    homeobox protein DLX-4
    Names
    beta protein 1
    distal-less homeo box 7
    distal-less homeo box 9
    homeobox protein DLX-7
    homeobox protein DLX-8

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030592.1 RefSeqGene

      Range
      5001..10762
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001934.3NP_001925.2  homeobox protein DLX-4 isoform b

      See identical proteins and their annotated locations for NP_001925.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs at the 5' end, and utilizes an alternate start codon compared to variant 1. This results in a shorter isoform (b) with a distinct N-terminus compared to isoform a, and lacks the beta-globin repressor function.
      Source sequence(s)
      BC016145, BG479840, BX105774, CB131875, U73328
      Consensus CDS
      CCDS45728.1
      UniProtKB/Swiss-Prot
      Q92988
      Related
      ENSP00000410622.2, OTTHUMP00000220791, ENST00000411890.3, OTTHUMT00000366216
      Conserved Domains (1) summary
      pfam00046
      Location:48101
      Homeobox; Homeobox domain
    2. NM_138281.2NP_612138.1  homeobox protein DLX-4 isoform a

      See identical proteins and their annotated locations for NP_612138.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a, also known as BP1), which functions as a repressor of the beta-globin gene.
      Source sequence(s)
      BC016145, BX113580, CB131875, DR004878
      Consensus CDS
      CCDS11555.1
      UniProtKB/Swiss-Prot
      Q92988
      Related
      ENSP00000240306.3, OTTHUMP00000220790, ENST00000240306.4, OTTHUMT00000366214
      Conserved Domains (1) summary
      pfam00046
      Location:120173
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      49968970..49974959
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024291.1XP_016879780.1  homeobox protein DLX-4 isoform X1

      UniProtKB/Swiss-Prot
      Q92988
      Conserved Domains (1) summary
      pfam00046
      Location:48101
      Homeobox; Homeobox domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      48110516..48116278
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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