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Gene

PHKA1

phosphorylase kinase regulatory subunit alpha 1

Summary

Cytogenetic location
Xq13.1
Coordinates
Chromosome X: 72,578,814–72,714,306 (GRCh38)
Exons
32 exons across 135.5 kb
Protein
1,223 amino acids
Previous symbols
PHKA
MANE Select transcript
ENST00000373542.9NM_002637.4
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 reports relevant to this gene

No Genome Test report reads PHKA1 yet. The test sequences your whole genome, so your data includes it all the same.

How PHKA1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where PHKA1 sits. PHKA1 and 15 genes near it on chromosome X, from 72,146,560 to 73,146,559.Chromosome XXq13.1p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2872.2 Mb72.4 Mb72.6 Mb72.8 Mb73 MbNHSL2: 71,910,834–72,161,750, forward strandNHSL2PIN4: 72,181,353–72,302,926, forward strandPIN4ERCC6L: 72,201,871–72,239,041, reverse strandERCC6LRPS4X: 72,255,661–72,277,344, reverse strandRPS4XCITED1: 72,301,638–72,309,652, reverse strandCITED1: 72,301,691–72,572,843, reverse strandHDAC8: 72,329,516–72,573,101, reverse strandHDAC8PHKA1: 72,578,814–72,714,306, reverse strandPHKA1DMRTC1B: 72,776,874–72,848,803, forward strandDMRTC1BFAM236B: 72,781,858–72,782,798, reverse strandFAM236BFAM236D: 72,807,425–72,808,210, reverse strandFAM236DDMRTC1: 72,872,025–72,943,837, reverse strandDMRTC1FAM236C: 72,912,615–72,913,401, forward strandFAM236CFAM236A: 72,938,163–72,938,958, forward strandFAM236APABPC1L2B: 73,002,939–73,006,106, forward strandPABPC1L2BPABPC1L2A: 73,077,276–73,079,512, reverse strandPABPC1L2ADiagram of PHKA1: 32 exons on the reverse strand of chromosome XExon 32: 1 known disease-causing siteExon 31: 1 known disease-causing siteExon 29: 1 known disease-causing siteExon 26: 2 known disease-causing sitesExon 25: 3 known disease-causing sitesExon 24: 1 known disease-causing siteExon 23: 2 known disease-causing sitesExon 22: 2 known disease-causing sitesExon 21: 1 known disease-causing siteExon 20: 1 known disease-causing siteExon 19: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 15: 2 known disease-causing sitesExon 14: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 7: 3 known disease-causing sitesExon 4: 1 known disease-causing siteExon 32: 72,578,814–72,581,175, 2,362 basesExon 31: 72,582,398–72,582,598, 201 basesExon 30: 72,584,249–72,584,302, 54 basesExon 29: 72,593,104–72,593,274, 171 basesExon 28: 72,601,991–72,602,029, 39 basesExon 27: 72,602,158–72,602,273, 116 basesExon 26: 72,603,119–72,603,220, 102 basesExon 25: 72,605,271–72,605,400, 130 basesExon 24: 72,605,541–72,605,619, 79 basesExon 23: 72,609,624–72,609,703, 80 basesExon 22: 72,611,028–72,611,184, 157 basesExon 21: 72,618,710–72,618,849, 140 basesExon 20: 72,619,214–72,619,305, 92 basesExon 19: 72,620,725–72,620,901, 177 basesExon 18: 72,623,109–72,623,275, 167 basesExon 17: 72,626,971–72,627,049, 79 basesExon 16: 72,635,155–72,635,299, 145 basesExon 15: 72,636,277–72,636,386, 110 basesExon 14: 72,644,362–72,644,496, 135 basesExon 13: 72,650,390–72,650,468, 79 basesExon 12: 72,652,544–72,652,651, 108 basesExon 11: 72,653,435–72,653,530, 96 basesExon 10: 72,656,120–72,656,242, 123 basesExon 9: 72,657,588–72,657,641, 54 basesExon 8: 72,666,151–72,666,297, 147 basesExon 7: 72,667,375–72,667,473, 99 basesExon 6: 72,676,070–72,676,150, 81 basesExon 5: 72,684,498–72,684,580, 83 basesExon 4: 72,695,708–72,695,876, 169 basesExon 3: 72,705,198–72,705,245, 48 basesExon 2: 72,712,779–72,712,937, 159 basesExon 1: 72,713,803–72,714,306, 504 bases323025201510515′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 6.3 kb of the gene's 135.5 kb; 3,672 of those bases code for the protein.

How a genome test reads PHKA1

42

positions in PHKA1 where ClinVar classes a change as pathogenic or likely pathogenic

1 of them (2.4%) falls in a region short reads find hard.

  • Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 135.5 kb of PHKA1, introns included, not only the 6.3 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.
  • 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.). PHKA1 gene: phosphorylase kinase regulatory subunit alpha 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/phka1

Vancouver

Dante Labs. PHKA1 gene: phosphorylase kinase regulatory subunit alpha 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/phka1

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