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Gene

JAK1

Janus kinase 1

Summary

Cytogenetic location
1p31.3
Coordinates
Chromosome 1: 64,833,229–64,966,549 (GRCh38)
Exons
25 exons across 133.3 kb
Protein
1,154 amino acids
Also known as
JAK1A, JTK3
Previous symbols
JAK1B
MANE Select transcript
ENST00000342505.5NM_002227.4
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 JAK1 yet. The test sequences your whole genome, so your data includes it all the same.

How JAK1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where JAK1 sits. JAK1 and 4 genes near it on chromosome 1, from 64,399,889 to 65,399,888.Chromosome 11p31.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4464.4 Mb64.6 Mb64.8 Mb65 Mb65.2 MbCACHD1: 64,469,765–64,693,058, forward strandCACHD1RAVER2: 64,744,861–64,833,233, forward strandRAVER2JAK1: 64,833,229–64,966,549, reverse strandJAK1AK4: 65,146,902–65,232,196, forward strandAK4DNAJC6: 65,248,219–65,415,871, forward strandDNAJC6Diagram of JAK1: 25 exons on the reverse strand of chromosome 1Exon 18: 1 known disease-causing siteExon 25: 64,833,229–64,834,657, 1,429 basesExon 24: 64,835,396–64,835,506, 111 basesExon 23: 64,836,098–64,836,215, 118 basesExon 22: 64,837,932–64,838,104, 173 basesExon 21: 64,838,465–64,838,589, 125 basesExon 20: 64,839,603–64,839,795, 193 basesExon 19: 64,841,245–64,841,339, 95 basesExon 18: 64,841,451–64,841,601, 151 basesExon 17: 64,844,064–64,844,215, 152 basesExon 16: 64,844,754–64,844,889, 136 basesExon 15: 64,845,513–64,845,640, 128 basesExon 14: 64,846,649–64,846,736, 88 basesExon 13: 64,847,532–64,847,675, 144 basesExon 12: 64,850,804–64,850,910, 107 basesExon 11: 64,855,509–64,855,698, 190 basesExon 10: 64,857,656–64,857,779, 124 basesExon 9: 64,860,105–64,860,262, 158 basesExon 8: 64,864,787–64,864,972, 186 basesExon 7: 64,866,866–64,867,208, 343 basesExon 6: 64,869,311–64,869,474, 164 basesExon 5: 64,873,370–64,873,523, 154 basesExon 4: 64,879,025–64,879,148, 124 basesExon 3: 64,883,277–64,883,475, 199 basesExon 2: 64,886,259–64,886,341, 83 basesExon 1: 64,966,333–64,966,549, 217 bases25201510515′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 5.1 kb of the gene's 133.3 kb; 3,465 of those bases code for the protein.

How a genome test reads JAK1

1

position in JAK1 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 133.3 kb of JAK1, introns included, not only the 5.1 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.). JAK1 gene: Janus kinase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/jak1

Vancouver

Dante Labs. JAK1 gene: Janus kinase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/jak1

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