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Gene

PSKH1

protein serine kinase H1

Summary

Cytogenetic location
16q22.1
Coordinates
Chromosome 16: 67,893,254–67,929,676 (GRCh38)
Exons
3 exons across 36.4 kb
Protein
424 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000291041.6NM_006742.3
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

  • Familial Intrahepatic Cholestasis

    • Autosomal recessive

      An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.

      • 1 GenCC submitter rates it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How PSKH1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where PSKH1 sits. PSKH1 and 36 genes near it on chromosome 16, from 67,411,465 to 68,411,464.Chromosome 1616q22.1p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.367.6 Mb67.8 Mb68 Mb68.2 Mb68.4 MbZDHHC1: 67,394,152–67,416,833, reverse strandZDHHC1HSD11B2: 67,430,652–67,437,553, forward strandHSD11B2ATP6V0D1: 67,437,523–67,481,227, reverse strandATP6V0D1AGRP: 67,482,571–67,483,552, reverse strandAGRPRIPOR1: 67,518,418–67,546,788, forward strandRIPOR1CTCF: 67,561,831–67,639,189, forward strandCARMIL2: 67,644,988–67,657,569, forward strandACD: 67,657,512–67,660,810, reverse strandPARD6A: 67,660,350–67,664,266, forward strandPARD6AENKD1: 67,662,945–67,667,954, reverse strandENKD1C16orf86: 67,666,802–67,668,757, forward strandC16orf86GFOD2: 67,674,527–67,719,352, reverse strandGFOD2RANBP10: 67,723,070–67,806,563, reverse strandRANBP10TSNAXIP1: 67,806,765–67,832,148, forward strandTSNAXIP1CENPT: 67,828,157–67,847,811, reverse strandTHAP11: 67,842,320–67,844,195, forward strandTHAP11NUTF2: 67,844,369–67,872,569, forward strandNUTF2EDC4: 67,873,049–67,884,520, forward strandEDC4NRN1L: 67,884,868–67,888,855, forward strandNRN1LPSKH1: 67,893,254–67,929,676, forward strandPSKH1CTRL: 67,927,640–67,932,365, reverse strandCTRL: 67,929,614–67,936,017, reverse strandPSMB10: 67,934,504–67,936,865, reverse strandPSMB10LCAT: 67,939,150–67,944,681, reverse strandSLC12A4: 67,943,474–67,969,601, reverse strandDPEP3: 67,975,661–67,980,554, reverse strandDPEP3DPEP2: 67,987,392–68,000,624, reverse strandDPEP2DUS2: 67,987,746–68,079,344, forward strandDPEP2NB: 68,013,436–68,015,911, reverse strandDPEP2NBDDX28: 68,020,916–68,023,232, reverse strandDDX28NFATC3: 68,084,751–68,229,259, forward strandNFATC3ESRP2: 68,225,974–68,238,102, reverse strandESRP2PLA2G15: 68,245,304–68,261,063, forward strandPLA2G15SLC7A6: 68,264,173–68,301,853, forward strandSLC7A6SLC7A6OS: 68,284,498–68,310,968, reverse strandSLC7A6OSPRMT7: 68,310,916–68,360,852, forward strandPRMT7SMPD3: 68,358,327–68,448,550, reverse strandSMPD3Diagram of PSKH1: 3 exons on the forward strand of chromosome 16Exon 2: 2 known disease-causing sitesExon 1: 67,893,254–67,893,371, 118 basesExon 2: 67,908,680–67,909,706, 1,027 basesExon 3: 67,927,325–67,929,676, 2,352 bases1235′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 3.5 kb of the gene's 36.4 kb; 1,275 of those bases code for the protein.

How a genome test reads PSKH1

2

positions in PSKH1 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 36.4 kb of PSKH1, introns included, not only the 3.5 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.). PSKH1 gene: protein serine kinase H1. Retrieved 16 October 2026, from https://dantelabs.com/genes/pskh1

Vancouver

Dante Labs. PSKH1 gene: protein serine kinase H1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pskh1

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