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Adenylate kinase 1

From Wikipedia, the free encyclopedia
(Redirected from AK1 (gene))

AK1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAK1, HTL-S-58j, adenylate kinase 1
External IDsOMIM: 103000; MGI: 87977; HomoloGene: 20135; GeneCards: AK1; OMA:AK1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000476
NM_001318121
NM_001318122

NM_001198790
NM_001198791
NM_001198792
NM_021515

RefSeq (protein)

NP_000467
NP_001305050
NP_001305051

NP_001185719
NP_001185720
NP_001185721
NP_067490

Location (UCSC)Chr 9: 127.87 – 127.88 MbChr 2: 32.51 – 32.53 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Adenylate kinase 1 is a protein that in humans is encoded by the AK1 gene. [5]

Function

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This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015].

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000106992Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026817Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Adenylate kinase 1". Retrieved 2018-10-13.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.