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

Gene ID: 5626, updated on 29-May-2016
Official Symbol
PROP1provided by HGNC
Official Full Name
PROP paired-like homeobox 1provided by HGNC
Primary source
HGNC:HGNC:9455
See related
Ensembl:ENSG00000175325 HPRD:03325; MIM:601538; Vega:OTTHUMG00000130887
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]
Orthologs
Location:
5q35.3
Exon count:
3
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (177992235..177996242, complement)
105 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 THO complex 3 pseudogene Neighboring gene uncharacterized LOC100128340 Neighboring gene SDS3 homolog, SIN3A corepressor complex component pseudogene 1 Neighboring gene chromosome alignment-maintaining phosphoprotein 1-like Neighboring gene ankyrin repeat domain 20 family member A2 pseudogene Neighboring gene family with sequence similarity 153, member C Neighboring gene ribosomal protein L19 pseudogene 9

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II distal enhancer sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
beta-catenin binding IEA
Inferred from Electronic Annotation
more info
 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
protein C-terminus binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding IEA
Inferred from Electronic Annotation
more info
 
transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
blood vessel development IEA
Inferred from Electronic Annotation
more info
 
canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
cell migration IEA
Inferred from Electronic Annotation
more info
 
central nervous system development TAS
Traceable Author Statement
more info
PubMed 
dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
 
hypophysis morphogenesis IEA
Inferred from Electronic Annotation
more info
 
hypothalamus cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
somatotropin secreting cell differentiation IEA
Inferred from Electronic Annotation
more info
 
transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 
transcription factor complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
homeobox protein prophet of Pit-1
Names
pituitary-specific homeodomain factor
prophet of Pit1, paired-like homeodomain transcription factor

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_015889.1 RefSeqGene

    Range
    5001..9008
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006261.4NP_006252.3  homeobox protein prophet of Pit-1

    See identical proteins and their annotated locations for NP_006252.3

    Status: REVIEWED

    Source sequence(s)
    AC136940, AF076215
    Consensus CDS
    CCDS4430.1
    UniProtKB/Swiss-Prot
    O75360
    UniProtKB/TrEMBL
    A0A0G2JQ02
    Related
    ENSP00000311290, OTTHUMP00000161487, ENST00000308304, OTTHUMT00000253472
    Conserved Domains (1) summary
    cd00086
    Location:70128
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

    Range
    177992235..177996242 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p2 ALT_REF_LOCI_1

Genomic

  1. NT_187546.1 Reference GRCh38.p2 ALT_REF_LOCI_1

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

Reference GRCh38.p2 ALT_REF_LOCI_2

Genomic

  1. NT_187652.1 Reference GRCh38.p2 ALT_REF_LOCI_2

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

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    176851155..176855162 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)