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

Gene ID: 1748, updated on 1-Jun-2020

Summary

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
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]
Expression
Biased expression in placenta (RPKM 1.9), skin (RPKM 0.3) and 3 other tissues See more
Orthologs

Genomic context

See DLX4 in Genome Data Viewer
Location:
17q21.33
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
embryo development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    4993..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, ENST00000411890.3
    Conserved Domains (1) summary
    pfam00046
    Location:48101
    Homeobox; Homeobox domain
  2. NM_138281.3NP_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)
    AC009720, BC016145, BX113580, CB131875, DR004878
    Consensus CDS
    CCDS11555.1
    UniProtKB/Swiss-Prot
    Q92988
    Related
    ENSP00000240306.3, ENST00000240306.5
    Conserved Domains (1) summary
    pfam00046
    Location:120173
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 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
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