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

Gene ID: 5626, updated on 17-Jun-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
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Genomic context

See PROP1 in Genome Data Viewer
Location:
5q35.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (177992235..177996242, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (178543102..178547110, complement)
105.20220307 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
  • 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
part_of 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_2023_10

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)