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AK1 adenylate kinase 1 [ Homo sapiens (human) ]

Gene ID: 203, updated on 2-Nov-2024

Summary

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Official Symbol
AK1provided by HGNC
Official Full Name
adenylate kinase 1provided by HGNC
Primary source
HGNC:HGNC:361
See related
Ensembl:ENSG00000106992 MIM:103000; AllianceGenome:HGNC:361
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CNSHA3; HTL-S-58j
Summary
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. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022]
Expression
Ubiquitous expression in heart (RPKM 35.4), lung (RPKM 29.7) and 25 other tissues See more
Orthologs
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Genomic context

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See AK1 in Genome Data Viewer
Location:
9q34.11
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (127866480..127879621, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140073895..140087021, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130628759..130641900, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene endoglin Neighboring gene RNA, 5S ribosomal pseudogene 296 Neighboring gene ST6GALNAC4-ST6GALNAC6-AK1 readthrough Neighboring gene uncharacterized LOC124902279 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130616269-130617185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130618546-130619046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130619047-130619547 Neighboring gene CRISPRi-validated cis-regulatory element chr9.2869 Neighboring gene Sharpr-MPRA regulatory region 4407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29056 Neighboring gene Sharpr-MPRA regulatory region 6524 Neighboring gene microRNA 4672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130645163-130645663 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130646401-130647398 Neighboring gene ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130658469-130659290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20314 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130660112-130660932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130660933-130661753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29057 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130667147-130667673 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130667812-130668411 Neighboring gene ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29058 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20317

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Adenylate kinase genetic polymorphism and spontaneous abortion. Gloria-Bottini F, et al. Am J Hum Biol, 2012 Mar-Apr. PMID 22287021
  2. Primary and tertiary structure of the principal human adenylate kinase. Von Zabern I, et al. Eur J Biochem, 1976 Sep. PMID 183954
  3. Segregation of marker loci in families with an inherited paracentric insertion of chromosome 9. Allderdice PW, et al. Am J Hum Genet, 1986 Nov. PMID 3024483, Free PMC Article
  4. Red cell adenylate kinase deficiency associated with hereditary nonspherocytic hemolytic anemia: clinical and biochemical studies. Miwa S, et al. Am J Hematol, 1983 Jun. PMID 6305188
  5. Congenital haemolytic anaemia associated with adenylate kinase deficiency. Toren A, et al. Br J Haematol, 1994 Jun. PMID 7947281

See all (66) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. High expression of AK1 predicts inferior prognosis in acute myeloid leukemia patients undergoing chemotherapy.
    Title: High expression of AK1 predicts inferior prognosis in acute myeloid leukemia patients undergoing chemotherapy.
  2. A co-expressed gene status of adenylate kinase 1/4 reveals prognostic gene signature associated with prognosis and sensitivity to EGFR targeted therapy in lung adenocarcinoma.
    Title: A co-expressed gene status of adenylate kinase 1/4 reveals prognostic gene signature associated with prognosis and sensitivity to EGFR targeted therapy in lung adenocarcinoma.
  3. Specific DNA methylation signatures for aggressive choroid plexus carcinoma (CPC) revealed AK1, PER2, and PLSCR4 as potential biomarkers for CPC that can be used to improve molecular stratification for diagnosis and treatment.
    Title: DNA methylation signature is prognostic of choroid plexus tumor aggressiveness.
  4. The mRNA and protein expressions of AK1, AK6 and AK7 are significantly down-regulated in the sperm of asthenospermia patients, which may be closely related with reduced sperm motility.
    Title: [Expressions of the adenylate kinase family in asthenospermia].
  5. Case Reports: first case of adenylate kinase deficiency in Indian population due to novel AK1 mutations (c.71A>G and c.413G>A) associated with nonspherocytic haemolytic anaemia without psychomotor impairment.
    Title: Red cell adenylate kinase deficiency in India: identification of two novel missense mutations (c.71A>G and c.413G>A).
  6. Studies indicate that the preferred substrate and phosphate donor of all adenylate kinases are AMP and ATP respectively.
    Title: The many isoforms of human adenylate kinases.
  7. Dysregulation of AMPK is both a pathogenic factor for these disorders in humans and a target for their prevention and therapy. [Review]
    Title: AMPK, insulin resistance, and the metabolic syndrome.
  8. Ak(1)2-1 phenotype is more frequent in males conceived in the summer-autumn period than in those conceived in winter-spring, and this association depends on maternal Ak(1) phenotype.
    Title: Ak(1) genetic polymorphism and season of conception.
  9. identified hitherto unrecognized soluble forms of AK1 and NTPDase1/CD39 that contribute in the active cycling between the principal platelet-recruiting agent ADP and other circulating nucleotides
    Title: Metabolism of circulating ADP in the bloodstream is mediated via integrated actions of soluble adenylate kinase-1 and NTPDase1/CD39 activities.
  10. Data indicate that the neuronal adenylate kinase-1 (AK1) is induced by Abeta(42) to increase abnormal tau phosphorylation via AMPK-GSK3beta and contributes to tau-mediated neurodegeneration.
    Title: Neuropathogenic role of adenylate kinase-1 in Aβ-mediated tau phosphorylation via AMPK and GSK3β.
Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hemolytic anemia due to adenylate kinase deficiency
MedGen: C2675459 OMIM: 612631 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough ST6GALNAC4-ST6GALNAC6-AK1

Readthrough gene: ST6GALNAC4-ST6GALNAC6-AK1, Included gene: ST6GALNAC4, Included gene: ST6GALNAC6

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables (deoxy)adenylate kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables adenylate kinase activity EXP
Inferred from Experiment
more info
 PubMed 
enables adenylate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nucleoside diphosphate kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in ADP biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in AMP metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in ATP metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in nucleobase-containing small molecule interconversion TAS
Traceable Author Statement
more info
  
involved_in nucleoside monophosphate phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in nucleoside triphosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in outer dense fiber IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
adenylate kinase isoenzyme 1
Names
ATP-AMP transphosphorylase 1
ATP:AMP phosphotransferase
adenylate monophosphate kinase
epididymis secretory sperm binding protein
myokinase
testis secretory sperm binding protein Li 58j
NP_000467.1
NP_001305050.1
NP_001305051.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011792.2 RefSeqGene

    Range
    5069..16258
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1187

mRNA and Protein(s)

  1. NM_000476.3 → NP_000467.1  adenylate kinase isoenzyme 1 isoform 1

    See identical proteins and their annotated locations for NP_000467.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the shorter isoform (1). Both variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AL157935
    Consensus CDS
    CCDS6881.1
    UniProtKB/Swiss-Prot
    P00568, Q9BVK9, Q9UQC7
    UniProtKB/TrEMBL
    Q53EY8, Q6FGX9
    Related
    ENSP00000494600.1, ENST00000644144.2
    Conserved Domains (1) summary
    TIGR01360
    Location:6 → 193
    aden_kin_iso1; adenylate kinase, isozyme 1 subfamily

  2. NM_001318121.1 → NP_001305050.1  adenylate kinase isoenzyme 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AL157935, CR975542
    Consensus CDS
    CCDS6881.1
    UniProtKB/Swiss-Prot
    P00568, Q9BVK9, Q9UQC7
    UniProtKB/TrEMBL
    Q53EY8, Q6FGX9
    Conserved Domains (1) summary
    TIGR01360
    Location:6 → 193
    aden_kin_iso1; adenylate kinase, isozyme 1 subfamily

  3. NM_001318122.2 → NP_001305051.1  adenylate kinase isoenzyme 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start site, compared to variant 1. It encodes isoform 2 which is longer and has a distinct N-terminus compared to variant 1.
    Source sequence(s)
    AL157935
    Consensus CDS
    CCDS83419.1
    UniProtKB/TrEMBL
    Q53EY8, Q5T9B7
    Related
    ENSP00000223836.10, ENST00000223836.10
    Conserved Domains (1) summary
    TIGR01360
    Location:22 → 209
    aden_kin_iso1; adenylate kinase, isozyme 1 subfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    127866480..127879621 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    140073895..140087021 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P00568.3 GenPept UniProtKB/Swiss-Prot:P00568

Gene LinkOut

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