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    PROP1 PROP paired-like homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 5626, updated on 18-Sep-2024

    Summary

    Official Symbol
    PROP1provided by HGNC
    Official Full Name
    PROP paired-like homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:9455
    See related
    Ensembl:ENSG00000175325 MIM:601538; AllianceGenome:HGNC:9455
    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
    CPHD2; PROP-1
    Summary
    This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PROP1 in Genome Data Viewer
    Location:
    5q35.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (177992235..177996242, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (178543102..178547110, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (177419236..177423243, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100128340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:177366549-177367149 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:177385067-177385586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:177393237-177393737 Neighboring gene SDS3 homolog, SIN3A corepressor complex component pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:177407066-177407810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:177409257-177409821 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:177423395-177423894 Neighboring gene ankyrin repeat domain 18A pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr5:177436962-177437506 Neighboring gene protein FAM153C Neighboring gene DLCR-2B recombination region Neighboring gene ribosomal protein L19 pseudogene 9

    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

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in dorsal/ventral pattern formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hypophysis morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hypothalamus cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II 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
     
    involved_in somatotropin secreting cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    part_of transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    homeobox protein prophet of Pit-1
    Names
    pituitary-specific homeodomain factor
    prophet of Pit1, paired-like homeodomain transcription factor

    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.

    Genomic

    1. NG_015889.2 RefSeqGene

      Range
      5000..9007
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006261.5NP_006252.4  homeobox protein prophet of Pit-1

      Status: REVIEWED

      Source sequence(s)
      AC136940
      Consensus CDS
      CCDS4430.1
      UniProtKB/Swiss-Prot
      O75360
      UniProtKB/TrEMBL
      A0A0G2JQ02
      Related
      ENSP00000311290.2, ENST00000308304.2
      Conserved Domains (1) summary
      pfam00046
      Location:72125
      Homeobox; Homeobox 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
      177992235..177996242 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187546.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      130718..131533 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187652.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      127081..130957 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      178543102..178547110 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)