PROP1

Protein identityUniProt · HPA

UniProt accession

O75360

Gene

PROP1

Ensembl

ENSG00000175325

Chromosome

5

Canonical length

226 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

226 residues, UniProt reviewed canonical sequence.

>O75360|PROP1
     1  MEAERRRQAE KPKKGRVGSN LLPERHPATG TPTTTVDSSA PPCRRLPGAG GGRSRFSPQG
    61  GQRGRPHSRR RHRTTFSPVQ LEQLESAFGR NQYPDIWARE SLARDTGLSE ARIQVWFQNR
   121  RAKQRKQERS LLQPLAHLSP AAFSSFLPES TACPYSYAAP PPPVTCFPHP YSHALPSQPS
   181  TGGAFALSHQ SEDWYPTLHP APAGHLPCPP PPPMLPLSLE PSKSWN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PROP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.64

Highest tissue expression

1.1 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PROP1.

Disease | AllUniProt

Conditions PROP1 is implicated in, by any mechanism.

• Pituitary hormone deficiency, combined, 2 (CPHD2) MIM:262600

Disease | GeneticClinVar

95 pathogenic / likely-pathogenic of 348 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Pituitary hormone deficiency, combined, 2
• Pituitary hormone deficiency
• Combined pituitary hormone deficiencies, genetic form
• PROP1-related disorder
• 46,XY partial gonadal dysgenesis

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.9

gnomAD pLI

0.09

gnomAD missense Z

0.25

DepMap mean gene effect

0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• apoptotic process
• blood vessel development
• cell migration
• central nervous system development
• dorsal/ventral pattern formation
• hypophysis morphogenesis
• hypothalamus cell differentiation
• negative regulation of apoptotic process
• regulation of transcription by RNA polymerase II
• somatotropin secreting cell differentiation

Molecular functions

• beta-catenin binding
• chromatin binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleus
• transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Helix-turn-helix motif
• Homeodomain
• Homedomain-like superfamily
• Homeobox, conserved site
• Homeodomain
• Homeobox protein prophet of Pit-1

KeywordsUniProt

• DNA-binding
• Dwarfism
• Homeobox
• Nucleus