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    HLX H2.0 like homeobox [ Homo sapiens (human) ]

    Gene ID: 3142, updated on 17-Jun-2024

    Summary

    Official Symbol
    HLXprovided by HGNC
    Official Full Name
    H2.0 like homeoboxprovided by HGNC
    Primary source
    HGNC:HGNC:4978
    See related
    Ensembl:ENSG00000136630 MIM:142995; AllianceGenome:HGNC:4978
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HB24; HLX1
    Summary
    Enables sequence-specific DNA binding activity. Predicted to be involved in cell differentiation and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including animal organ development; enteric nervous system development; and regulation of T-helper cell differentiation. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in bone marrow (RPKM 18.6), fat (RPKM 10.7) and 19 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See HLX in Genome Data Viewer
    Location:
    1q41
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (220879443..220885059)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (220119233..220124841)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (221052785..221058401)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900455 Neighboring gene RNA, U6atac small nuclear 35, pseudogene Neighboring gene long intergenic non-protein coding RNA 1352 Neighboring gene HLX antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1827 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:221053510-221054118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:221064967-221065512 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:221065513-221066058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:221067145-221067784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:221069442-221070370 Neighboring gene uncharacterized LOC105372930 Neighboring gene uncharacterized LOC101929750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2558 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1828

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in T-helper 1 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T-helper 2 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic digestive tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in enteric nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of T-helper 2 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in organ growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of T-helper 1 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of organ growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in skeletal muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    H2.0-like homeobox protein
    Names
    H2.0-like homeo box-1
    H2.0-like homeobox 1
    homeobox protein HB24
    homeobox protein HLX1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_021958.4NP_068777.1  H2.0-like homeobox protein

      See identical proteins and their annotated locations for NP_068777.1

      Status: VALIDATED

      Source sequence(s)
      BC033808, DA951303
      Consensus CDS
      CCDS1527.1
      UniProtKB/Swiss-Prot
      B2R8A8, Q14774, Q15988, Q59HE7, Q9NZ75
      UniProtKB/TrEMBL
      B3KXT6
      Related
      ENSP00000355870.5, ENST00000366903.8
      Conserved Domains (2) summary
      pfam00046
      Location:279332
      Homeobox; Homeobox domain
      cl27820
      Location:227344
      Abdominal-A; Homeobox protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      220879443..220885059
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      220119233..220124841
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)