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    NOTO notochord homeobox [ Homo sapiens (human) ]

    Gene ID: 344022, updated on 5-Mar-2024

    Summary

    Official Symbol
    NOTOprovided by HGNC
    Official Full Name
    notochord homeoboxprovided by HGNC
    Primary source
    HGNC:HGNC:31839
    See related
    Ensembl:ENSG00000214513 MIM:620695; AllianceGenome:HGNC:31839
    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
    Summary
    Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in central nervous system development; neuron differentiation; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including embryonic organ development; motile cilium assembly; and regulation of cilium assembly. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See NOTO in Genome Data Viewer
    Location:
    2p13.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (73202574..73212513)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (73215563..73225502)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (73429702..73439641)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene sideroflexin 5 Neighboring gene uncharacterized LOC105374800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73282484-73282984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73282985-73283485 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73285820-73286320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73306762-73307360 Neighboring gene Sharpr-MPRA regulatory region 6541 Neighboring gene RAB11 family interacting protein 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16025 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73338684-73338927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11633 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73390968-73391162 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73403343-73404016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73404017-73404690 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73421928-73422097 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:73430545-73431096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11636 Neighboring gene Sharpr-MPRA regulatory region 2018 Neighboring gene SMYD family member 5 Neighboring gene protease associated domain containing 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in central nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in dorsal/ventral pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in notochord development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    homeobox protein notochord
    Names
    notochord homolog

    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_001134462.2NP_001127934.1  homeobox protein notochord

      See identical proteins and their annotated locations for NP_001127934.1

      Status: VALIDATED

      Source sequence(s)
      AC010913, AK295936
      Consensus CDS
      CCDS46335.1
      UniProtKB/Swiss-Prot
      A8MTQ0, B4DJ59, B7ZAU5
      Related
      ENSP00000381486.3, ENST00000398468.4
      Conserved Domains (1) summary
      pfam00046
      Location:160211
      Homeobox; Homeobox domain

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      73202574..73212513
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      73215563..73225502
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)