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Gene

AK1

adenylate kinase 1

Summary

Cytogenetic location
9q34.11
Coordinates
Chromosome 9: 127,866,486–127,877,675 (GRCh38)
Exons
7 exons across 11.2 kb
Protein
194 amino acids
Inheritance
Autosomal recessive
Also known as
ADK, Adk1
MANE Select transcript
ENST00000644144.2NM_000476.3
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

  • Pyruvate Kinase Deficiency and Other Red Cell Enzyme Disorders

    • Adenylate Kinase DeficiencyAutosomal recessive

      A rare recessive form of haemolytic anaemia caused by changes in AK1, sometimes with developmental delay.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the cause guides monitoring for anaemia, gallstones and iron overload.

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 AK1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 9, with a bracket where AK1 sits. AK1 and 34 genes near it on chromosome 9, from 127,372,081 to 128,372,080.Chromosome 99q34.11p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3127.4 Mb127.6 Mb127.8 Mb128 Mb128.2 MbGARNL3: 127,224,265–127,393,683, forward strandGARNL3SLC2A8: 127,397,131–127,408,424, forward strandSLC2A8ZNF79: 127,424,374–127,449,728, forward strandZNF79RPL12: 127,447,422–127,452,094, reverse strandRPL12LRSAM1: 127,451,469–127,503,503, forward strandLRSAM1NIBAN2: 127,505,339–127,579,049, reverse strandNIBAN2STXBP1: 127,579,370–127,696,027, forward strandSTXBP1PTRH1: 127,690,102–127,724,885, reverse strandCFAP157: 127,706,979–127,716,002, forward strandCFAP157TTC16: 127,716,074–127,731,590, forward strandTTC16TOR2A: 127,731,516–127,735,355, reverse strandTOR2ASH2D3C: 127,738,317–127,778,771, reverse strandSH2D3CCDK9: 127,785,252–127,792,871, forward strandCDK9FPGS: 127,794,597–127,815,065, forward strandFPGSENG: 127,811,130–127,855,232, reverse strandENGAK1: 127,866,486–127,877,675, reverse strandAK1: 127,867,850–127,906,022, reverse strandST6GALNAC6: 127,885,320–127,906,632, reverse strandST6GALNAC6ST6GALNAC4: 127,906,919–127,917,057, reverse strandST6GALNAC4PIP5KL1: 127,920,881–127,930,823, reverse strandPIP5KL1DPM2: 127,935,090–127,937,879, reverse strandDPM2EEIG1: 127,939,491–127,981,075, reverse strandNAIF1: 128,061,233–128,068,206, reverse strandNAIF1SLC25A25: 128,068,169–128,109,245, forward strandSLC25A25PTGES2: 128,120,693–128,128,462, reverse strandPTGES2LCN2: 128,149,071–128,153,454, forward strandLCN2BBLN: 128,160,219–128,163,928, forward strandBBLNCIZ1: 128,161,233–128,204,482, reverse strandCIZ1DNM1: 128,191,655–128,255,254, forward strandDNM1GOLGA2: 128,255,829–128,276,036, reverse strandGOLGA2SWI5: 128,275,379–128,316,123, forward strandSWI5TRUB2: 128,305,159–128,322,741, reverse strandTRUB2COQ4: 128,322,483–128,334,073, forward strandCOQ4SLC27A4: 128,340,475–128,363,283, forward strandSLC27A4URM1: 128,371,341–128,392,017, forward strandURM1Diagram of AK1: 7 exons on the reverse strand of chromosome 9Exon 5: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 7: 127,866,486–127,868,076, 1,591 basesExon 6: 127,868,321–127,868,512, 192 basesExon 5: 127,871,823–127,871,939, 117 basesExon 4: 127,872,690–127,872,853, 164 basesExon 3: 127,873,026–127,873,061, 36 basesExon 2: 127,874,611–127,874,649, 39 basesExon 1: 127,877,623–127,877,675, 53 bases76543215′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 2.2 kb of the gene's 11.2 kb; 585 of those bases code for the protein.

How a genome test reads AK1

3

positions in AK1 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 11.2 kb of AK1, introns included, not only the 2.2 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.). AK1 gene: adenylate kinase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/ak1

Vancouver

Dante Labs. AK1 gene: adenylate kinase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ak1

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