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    HMX3 H6 family homeobox 3 [ Homo sapiens (human) ]

    Gene ID: 340784, updated on 17-Jun-2019

    Summary

    Official Symbol
    HMX3provided by HGNC
    Official Full Name
    H6 family homeobox 3provided by HGNC
    Primary source
    HGNC:HGNC:5019
    See related
    Ensembl:ENSG00000188620 MIM:613380
    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
    NKX5.1; Nkx5-1; NKX-5.1
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See HMX3 in Genome Data Viewer
    Location:
    10q26.13
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (123135970..123139423)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (124895567..124897247)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1319 Neighboring gene VISTA enhancer hs329 Neighboring gene H6 family homeobox 2 Neighboring gene Sharpr-MPRA regulatory region 11829 Neighboring gene BUB3 mitotic checkpoint protein

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of chronic periodontitis in a general German population.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    brain development IEA
    Inferred from Electronic Annotation
    more info
     
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    embryo implantation IEA
    Inferred from Electronic Annotation
    more info
     
    inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    maternal process involved in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    neuromuscular process controlling balance IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    homeobox protein HMX3
    Names
    homeo box (H6 family) 3
    homeobox (H6 family) 3
    homeobox protein H6 family member 3
    homeobox protein Nkx-5.1

    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.

    mRNA and Protein(s)

    1. NM_001105574.2NP_001099044.1  homeobox protein HMX3

      See identical proteins and their annotated locations for NP_001099044.1

      Status: VALIDATED

      Source sequence(s)
      AC012391, AW088771
      Consensus CDS
      CCDS41575.1
      UniProtKB/Swiss-Prot
      A6NHT5
      Related
      ENSP00000350549.4, ENST00000357878.6
      Conserved Domains (1) summary
      pfam00046
      Location:230283
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: Homo sapiens 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_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      123135970..123139423
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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