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    AK3 adenylate kinase 3 [ Homo sapiens (human) ]

    Gene ID: 50808, updated on 2-May-2024

    Summary

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    Official Symbol
    AK3provided by HGNC
    Official Full Name
    adenylate kinase 3provided by HGNC
    Primary source
    HGNC:HGNC:17376
    See related
    Ensembl:ENSG00000147853 MIM:609290; AllianceGenome:HGNC:17376
    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
    AK6; FIX; AK3L1; AKL3L; AKL3L1
    Summary
    The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
    Expression
    Ubiquitous expression in liver (RPKM 32.7), fat (RPKM 26.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AK3 in Genome Data Viewer
    Location:
    9p24.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (4709556..4742043, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (4713232..4747171, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (4709556..4742043, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene CDC37L1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28148 Neighboring gene cell division cycle 37 like 1, HSP90 cochaperone Neighboring gene uncharacterized LOC124902112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19747 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:4762929-4763867 Neighboring gene extracellular matrix protein 1 pseudogene 1 Neighboring gene RPS5 pseudogene 6

    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 Isozyme 3 Regulates Mitochondrial Energy Metabolism and Knockout Alters HeLa Cell Metabolism. Fujisawa K, et al. Int J Mol Sci, 2022 Apr 13. PMID 35457131, Free PMC Article
    2. Candidate predisposing germline copy number variants in early onset colorectal cancer patients. Brea-Fernandez AJ, et al. Clin Transl Oncol, 2017 May. PMID 27888432
    3. Mitochondrial GTP-AMP phosphotransferase. 2. Kinetic and equilibrium dialysis studies. Tomasselli AG, et al. Eur J Biochem, 1979 Jan 15. PMID 218813
    4. Evidence for the assignment of the loci AK1, AK3 and ACONs to chromosome 9 in man. Povey S, et al. Ann Hum Genet, 1976 May. PMID 182062
    5. Cloning and functional characterization of the promoter region of the gene encoding human adenylate kinase isozyme 3. Noma T, et al. Biochem Biophys Res Commun, 1999 Nov 2. PMID 10544043

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Adenylate Kinase Isozyme 3 Regulates Mitochondrial Energy Metabolism and Knockout Alters HeLa Cell Metabolism.
      Title: Adenylate Kinase Isozyme 3 Regulates Mitochondrial Energy Metabolism and Knockout Alters HeLa Cell Metabolism.
    2. These findings suggest that AK3 and SLIT2 may be potential candidates involved in genetic susceptibility to colorectal cancer
      Title: Candidate predisposing germline copy number variants in early onset colorectal cancer patients.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
    EBI GWAS Catalog
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT enables adenylate kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nucleoside triphosphate adenylate kinase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables nucleoside triphosphate adenylate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nucleoside triphosphate adenylate kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ADP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in AMP metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in AMP metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in GTP metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ITP metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in UTP metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in blood coagulation TAS
    Traceable Author Statement
    more info
    		  
    involved_in nucleoside triphosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    GTP:AMP phosphotransferase AK3, mitochondrial
    Names
    GTP:AMP phosphotransferase, mitochondrial
    adenylate kinase 3 alpha-like 1
    adenylate kinase 6, adenylate kinase 3 like 1
    NP_001186781.1
    NP_001186782.1
    NP_001186784.1
    NP_001186785.1
    NP_057366.2

    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_028041.1 RefSeqGene

      Range
      5842..37488
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199852.2 → NP_001186781.1  GTP:AMP phosphotransferase AK3, mitochondrial isoform b

      See identical proteins and their annotated locations for NP_001186781.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AF100785, AK001553, AK298200, AL136231, BX640794
      Consensus CDS
      CCDS56562.1
      UniProtKB/TrEMBL
      Q7Z4Y4
      Related
      ENSP00000413933.2, ENST00000447596.4
      Conserved Domains (2) summary
      cd01428
      Location:9 → 161
      ADK; Adenylate kinase (ADK) catalyzes the reversible phosphoryl transfer from adenosine triphosphates (ATP) to adenosine monophosphates (AMP) and to yield adenosine diphosphates (ADP). This enzyme is required for the biosynthesis of ADP and is essential for ...
      TIGR01351
      Location:9 → 173
      adk; adenylate kinase

    2. NM_001199853.2 → NP_001186782.1  GTP:AMP phosphotransferase AK3, mitochondrial isoform c

      See identical proteins and their annotated locations for NP_001186782.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3, 5, and 6 all encode the same isoform (c).
      Source sequence(s)
      AF100785, AF183419, AK001553, AL136231, BX640794
      Consensus CDS
      CCDS56561.1
      UniProtKB/TrEMBL
      B3KWD9
      Related
      ENSP00000352948.2, ENST00000359883.6
      Conserved Domains (1) summary
      pfam00406
      Location:1 → 120
      ADK; Adenylate kinase

    3. NM_001199855.2 → NP_001186784.1  GTP:AMP phosphotransferase AK3, mitochondrial isoform c

      See identical proteins and their annotated locations for NP_001186784.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3, 5, and 6 all encode the same isoform (c).
      Source sequence(s)
      AF100785, AF183419, AK001553, AL136231, BX640794, DA718987
      Consensus CDS
      CCDS56561.1
      UniProtKB/TrEMBL
      B3KWD9
      Related
      ENSP00000482308.1, ENST00000611749.4
      Conserved Domains (1) summary
      pfam00406
      Location:1 → 120
      ADK; Adenylate kinase

    4. NM_001199856.2 → NP_001186785.1  GTP:AMP phosphotransferase AK3, mitochondrial isoform c

      See identical proteins and their annotated locations for NP_001186785.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3, 5, and 6 all encode the same isoform (c).
      Source sequence(s)
      AF100785, AK001553, AL136231, BX640794, DA570364
      Consensus CDS
      CCDS56561.1
      UniProtKB/TrEMBL
      B3KWD9
      Conserved Domains (1) summary
      pfam00406
      Location:1 → 120
      ADK; Adenylate kinase

    5. NM_016282.4 → NP_057366.2  GTP:AMP phosphotransferase AK3, mitochondrial isoform a

      See identical proteins and their annotated locations for NP_057366.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 4 both encode the same isoform (a).
      Source sequence(s)
      AF100785, AK001553, AL136231, BX640794
      Consensus CDS
      CCDS6455.1
      UniProtKB/Swiss-Prot
      B4DP58, D3DRI1, E7ET30, Q5VYW6, Q9H576, Q9HC01, Q9NPB4, Q9UIJ7
      UniProtKB/TrEMBL
      Q7Z4Y4
      Related
      ENSP00000371230.3, ENST00000381809.8
      Conserved Domains (1) summary
      pfam00406
      Location:12 → 190
      ADK; Adenylate kinase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      4709556..4742043 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      4713232..4747171 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001199854.1: Suppressed sequence

      Description
      NM_001199854.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UIJ7.4 GenPept UniProtKB/Swiss-Prot:Q9UIJ7

    Gene LinkOut

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

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