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    OTP orthopedia homeobox [ Homo sapiens (human) ]

    Gene ID: 23440, updated on 18-Sep-2024

    Summary

    Official Symbol
    OTPprovided by HGNC
    Official Full Name
    orthopedia homeoboxprovided by HGNC
    Primary source
    HGNC:HGNC:8518
    See related
    Ensembl:ENSG00000171540 MIM:604529; AllianceGenome:HGNC:8518
    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
    Summary
    This gene encodes a member of the homeodomain (HD) family. HD family proteins are helix-turn-helix transcription factors that play key roles in the specification of cell fates. This protein may function during brain development. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See OTP in Genome Data Viewer
    Location:
    5q14.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (77628712..77638713, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (78111295..78121295, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (76924537..76934538, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene WD repeat domain 41 Neighboring gene ribosomal protein S2 pseudogene 24 Neighboring gene ribosomal protein L7 pseudogene 23 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:76924162-76924727 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:76928018-76928518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22701 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:76935081-76935635 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:76934524-76935080 Neighboring gene VISTA enhancer hs262 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16113 Neighboring gene tubulin folding cofactor A Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:77047116-77047753 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:77068972-77069857 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:77069858-77070742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16115 Neighboring gene ACTB pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Clone Names

    • MGC3161

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in dopaminergic neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in forebrain neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hypothalamus cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuroendocrine cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neurohypophysis development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    homeobox protein orthopedia
    Names
    orthopedia 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_032109.3NP_115485.1  homeobox protein orthopedia

      See identical proteins and their annotated locations for NP_115485.1

      Status: REVIEWED

      Source sequence(s)
      AC108173, BC001800
      Consensus CDS
      CCDS4039.1
      UniProtKB/Swiss-Prot
      Q5XKR4
      Related
      ENSP00000302814.3, ENST00000306422.5
      Conserved Domains (2) summary
      pfam00046
      Location:107156
      Homeobox; Homeobox domain
      pfam03826
      Location:303320
      OAR; OAR domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      77628712..77638713 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      78111295..78121295 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)