Gene
PROP1
PROP paired-like homeobox 1
- HGNC 9455↗(opens in a new tab)
- Ensembl gene ENSG00000175325↗(opens in a new tab)
- NCBI Gene 5626↗(opens in a new tab)
Summary
- Cytogenetic location
- 5q35.3
- Coordinates
- Chromosome 5: 177,992,235–177,996,242 (GRCh38)
- Exons
- 3 exons across 4 kb
- Protein
- 226 amino acids
- MANE Select transcript
- ENST00000308304.2NM_006261.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Hypogonadotropic Hypogonadism
Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.
- 6 GenCC submitters rate it definitive or strong
Non-Acquired Combined Pituitary Hormone Deficiency
- Combined pituitary hormone deficiency, genetic form
Inherited deficiency of several pituitary hormones, including PROP1, POU1F1, HESX1 and related causes.
- 6 GenCC submitters rate it definitive or strong
How PROP1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.5 kb of the gene's 4 kb; 681 of those bases code for the protein.
How a genome test reads PROP1
40
positions in PROP1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 4 kb of PROP1, introns included, not only the 1.5 kb of exons.
Genes linked to the same conditions
- FOXA2forkhead box A2Shares 2 conditions
- GH1growth hormone 1Shares 2 conditions
- GHRHRgrowth hormone releasing hormone receptorShares 2 conditions
- HESX1HESX homeobox 1Shares 2 conditions
- LHX3LIM homeobox 3Shares 2 conditions
- LHX4LIM homeobox 4Shares 2 conditions
- OTX2orthodenticle homeobox 2Shares 2 conditions
- POU1F1POU class 1 homeobox 1Shares 2 conditions
- RNPC3RNA binding region (RNP1, RRM) containing 3Shares 2 conditions
- ROBO1roundabout guidance receptor 1Shares 2 conditions
- SOX3SRY-box transcription factor 3Shares 2 conditions
- TBX19T-box transcription factor 19Shares 2 conditions
Traits linked to PROP1
The Human Phenotype Ontology lists these as features of the rare conditions PROP1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the endocrine system
- Decreased circulating follicle stimulating hormone concentration
- Decreased circulating luteinizing hormone level
- Decreased thyroid-stimulating hormone level
- Hypopituitarism
- Reduced circulating growth hormone concentration
- Reduced circulating prolactin concentration
- Low thyroid gland function due to abnormal pituitary gland
- Reduced radioactive iodine uptake
Show 17 more traits
- Abnormal prolactin level
- Absent pituitary gland
- Decreased circulating ACTH concentration
- Decreased circulating T4 concentration
- Decreased response to growth hormone stimulation test
- Hypogonadotropic hypogonadism
- Panhypopituitarism
- Small thyroid gland
- Underdeveloped pituitary gland
- Absence of secondary sex characteristics
- Delayed puberty
- Ectopic posterior pituitary
- Inappropriate antidiuretic hormone secretion
- Ectopic anterior pituitary gland
- Adrenal insufficiency
- Decreased activity of gonads
- Underactive thyroid
Abnormality of head or neck
- Abnormally large tongue
- Delayed cranial suture closure
- Facial puffiness
- Flat nose
- Large posterior fontanelle
- Abnormal facial shape
- Depressed nasal bridge
- Midface retrusion
Show 3 more traits
Abnormality of the nervous system
- Decreased reflex response
- Lethargy
- Neurodevelopmental delay
- Abnormality of the cerebellum
- Agenesis of corpus callosum
- Absent septum pellucidum
- Epilepsy
- Holoprosencephaly
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). PROP1 gene: PROP paired-like homeobox 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/prop1
Dante Labs. PROP1 gene: PROP paired-like homeobox 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/prop1
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