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    AK1 adenylate kinase 1 [ Homo sapiens (human) ]

    Gene ID: 203, updated on 27-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
    • 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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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
    		  
    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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