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Gene

POU1F1

POU class 1 homeobox 1

Summary

Cytogenetic location
3p11.2
Coordinates
Chromosome 3: 87,259,404–87,276,584 (GRCh38)
Exons
6 exons across 17.2 kb
Protein
291 amino acids
Also known as
GHF-1, POU1F1a, PIT-1
Previous symbols
PIT1
MANE Select transcript
ENST00000350375.7NM_000306.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Hypogonadotropic Hypogonadism

    • Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.

      • 4 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.

      • 4 GenCC submitters rate it definitive or strong

How POU1F1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where POU1F1 sits. POU1F1 and 2 genes near it on chromosome 3, from 86,767,994 to 87,767,993.Chromosome 33p11.2p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2986.8 Mb87 Mb87.2 Mb87.4 Mb87.6 MbVGLL3: 86,876,388–86,991,312, reverse strandVGLL3CHMP2B: 87,227,258–87,259,944, forward strandCHMP2BPOU1F1: 87,259,404–87,276,584, reverse strandPOU1F1Diagram of POU1F1: 6 exons on the reverse strand of chromosome 3Exon 6: 3 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 6: 87,259,404–87,260,104, 701 basesExon 5: 87,261,273–87,261,333, 61 basesExon 4: 87,262,071–87,262,235, 165 basesExon 3: 87,264,288–87,264,512, 225 basesExon 2: 87,273,347–87,273,418, 72 basesExon 1: 87,276,321–87,276,584, 264 bases6543215′3′

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 17.2 kb; 876 of those bases code for the protein.

Sequencing POU1F1

2Low

How hard POU1F1 is to sequence with short reads, out of 100

  • Mappability0%
  • Homology0%
  • Repeats4.3%
  • GC content14%
  • Reference coverage0%

13

positions in POU1F1 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 17.2 kb of POU1F1, introns included, not only the 1.5 kb of exons.

Genes linked to the same conditions

Traits linked to POU1F1

The Human Phenotype Ontology lists these as features of the rare conditions POU1F1 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the endocrine system

Show 19 more traits

External links

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 2026-10-17: 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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). POU1F1 gene: POU class 1 homeobox 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/pou1f1

Vancouver

Dante Labs. POU1F1 gene: POU class 1 homeobox 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pou1f1

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