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Gene

PLCH1

phospholipase C eta 1

Summary

Cytogenetic location
3q25.31
Coordinates
Chromosome 3: 155,479,881–155,745,071 (GRCh38)
Exons
23 exons across 265.2 kb
Protein
1,685 amino acids
Also known as
KIAA1069, MGC117152, DKFZp434C1372, PLCeta1
Previous symbols
PLCL3
MANE Select transcript
ENST00000460012.7NM_014996.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Non-Acquired Combined Pituitary Hormone Deficiency

    • Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.

      • 1 GenCC submitter rates it definitive or strong

How PLCH1 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 PLCH1 sits. PLCH1 and 7 genes near it on chromosome 3, from 155,112,476 to 156,112,475.Chromosome 33q25.31p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q29155.2 Mb155.4 Mb155.6 Mb155.8 Mb156 MbMME: 155,024,124–155,183,813, forward strandMMESTRIT1: 155,287,622–155,294,017, reverse strandSTRIT1PLCH1: 155,479,881–155,745,071, reverse strandPLCH1MISO1: 155,762,607–155,806,288, reverse strandMISO1: 155,763,043–155,854,442, reverse strandSLC33A1: 155,821,024–155,854,563, reverse strandSLC33A1GMPS: 155,870,467–155,944,020, forward strandGMPSKCNAB1: 156,037,701–156,538,757, forward strandKCNAB1Diagram of PLCH1: 23 exons on the reverse strand of chromosome 3Exon 17: 1 known disease-causing siteExon 23: 155,479,881–155,483,051, 3,171 basesExon 22: 155,485,356–155,485,710, 355 basesExon 21: 155,488,028–155,488,107, 80 basesExon 20: 155,488,660–155,488,806, 147 basesExon 19: 155,490,784–155,490,868, 85 basesExon 18: 155,492,729–155,492,853, 125 basesExon 17: 155,494,141–155,494,248, 108 basesExon 16: 155,494,338–155,494,517, 180 basesExon 15: 155,497,320–155,497,417, 98 basesExon 14: 155,500,703–155,500,794, 92 basesExon 13: 155,504,555–155,504,626, 72 basesExon 12: 155,514,723–155,514,884, 162 basesExon 11: 155,523,897–155,524,004, 108 basesExon 10: 155,549,787–155,549,958, 172 basesExon 9: 155,554,076–155,554,196, 121 basesExon 8: 155,564,915–155,565,118, 204 basesExon 7: 155,568,231–155,568,324, 94 basesExon 6: 155,583,472–155,583,642, 171 basesExon 5: 155,586,065–155,586,194, 130 basesExon 4: 155,593,941–155,594,184, 244 basesExon 3: 155,596,232–155,596,378, 147 basesExon 2: 155,704,146–155,704,264, 119 basesExon 1: 155,744,840–155,745,071, 232 bases23201510515′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 6.4 kb of the gene's 265.2 kb; 5,058 of those bases code for the protein.

How a genome test reads PLCH1

1

position in PLCH1 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 265.2 kb of PLCH1, introns included, not only the 6.4 kb of exons.

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

APA

Dante Labs. (n.d.). PLCH1 gene: phospholipase C eta 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/plch1

Vancouver

Dante Labs. PLCH1 gene: phospholipase C eta 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/plch1

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