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    AK4 adenylate kinase 4 [ Homo sapiens (human) ]

    Gene ID: 205, updated on 10-Dec-2024

    Summary

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    Official Symbol
    AK4provided by HGNC
    Official Full Name
    adenylate kinase 4provided by HGNC
    Primary source
    HGNC:HGNC:363
    See related
    Ensembl:ENSG00000162433 MIM:103030; AllianceGenome:HGNC:363
    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
    AK3; AK 4; AK3L1; AK3L2
    Summary
    This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008]
    Annotation information
    Note: On Build 36.2, AK3L1 and AK3L2 (GeneID 387851) were annotated at the same location. AK3L2 is defined as a locus on Chr12, which was annotated on Build 36.2 as GeneID 645619 on the reference assembly and 731007 on the Celera assembly. To remove the extra record, GeneID 387851 was merged into GeneID 205, and GeneID 645619 was renamed AK3L2. [13 Feb 2013]
    Expression
    Biased expression in kidney (RPKM 79.4), liver (RPKM 24.7) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AK4 in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (65147552..65232145)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (65025531..65110134)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (65613235..65697828)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S24 pseudogene Neighboring gene MPRA-validated peak272 silencer Neighboring gene mitochondrial ribosomal protein S21 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:65605473-65606012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 964 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 965 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:65614416-65615134 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:65615135-65615853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1141 Neighboring gene NANOG hESC enhancer GRCh37_chr1:65619207-65619708 Neighboring gene ribosomal protein S29 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1143 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 969 Neighboring gene DNAJC6 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 970 Neighboring gene DnaJ heat shock protein family (Hsp40) member C6 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:65764980-65765192 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:65769278-65769456 Neighboring gene uncharacterized LOC112268227 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Crystal structure of human adenylate kinase 4 (L171P) suggests the role of hinge region in protein domain motion. Liu R, et al. Biochem Biophys Res Commun, 2009 Jan 30. PMID 19073142
    2. Adenylate kinase 4 promotes bladder cancer cell proliferation and invasion. Xin F, et al. Clin Exp Med, 2019 Nov. PMID 31463832
    3. Report of the committee on the genetic constitution of chromosomes 7, 8, and 9. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping. Robson EB, et al. Cytogenet Cell Genet, 1982. PMID 7140357
    4. AK4 Promotes the Progression of HER2-Positive Breast Cancer by Facilitating Cell Proliferation and Invasion. Zhang J, et al. Dis Markers, 2019. PMID 31827645, Free PMC Article
    5. Adenylate Kinase 4 Modulates the Resistance of Breast Cancer Cells to Tamoxifen through an m(6)A-Based Epitranscriptomic Mechanism. Liu X, et al. Mol Ther, 2020 Dec 2. PMID 32956623, Free PMC Article

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MiR-3666 serves as a tumor suppressor in ovarian carcinoma by down-regulating AK4 via targeting STAT3.
      Title: MiR-3666 serves as a tumor suppressor in ovarian carcinoma by down-regulating AK4 via targeting STAT3.
    2. Adenylate Kinase 4-A Key Regulator of Proliferation and Metabolic Shift in Human Pulmonary Arterial Smooth Muscle Cells via Akt and HIF-1alpha Signaling Pathways.
      Title: Adenylate Kinase 4-A Key Regulator of Proliferation and Metabolic Shift in Human Pulmonary Arterial Smooth Muscle Cells via Akt and HIF-1α Signaling Pathways.
    3. Adenylate Kinase 4 Modulates the Resistance of Breast Cancer Cells to Tamoxifen through an m(6)A-Based Epitranscriptomic Mechanism.
      Title: Adenylate Kinase 4 Modulates the Resistance of Breast Cancer Cells to Tamoxifen through an m(6)A-Based Epitranscriptomic Mechanism.
    4. Knockdown of circ-ABCB10 promotes sensitivity of lung cancer cells to cisplatin via miR-556-3p/AK4 axis.
      Title: Knockdown of circ-ABCB10 promotes sensitivity of lung cancer cells to cisplatin via miR-556-3p/AK4 axis.
    5. 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.
    6. High AK4 expression is associated with Breast Cancer by Facilitating Cell Proliferation and Invasion.
      Title: AK4 Promotes the Progression of HER2-Positive Breast Cancer by Facilitating Cell Proliferation and Invasion.
    7. The overexpression of AK4 stabilizes HIF-1alpha protein by increasing intracellular ROS levels and induces epithelial-to-mesenchymal transition in non-small cell lung cancer.
      Title: Adenylate kinase 4 modulates oxidative stress and stabilizes HIF-1α to drive lung adenocarcinoma metastasis.
    8. Study found that AK4 was positively correlated with poor prognosis of bladder cancer (BC) patients. Its knockdown in bladder cancer cell lines inhibited proliferation and invasion and suppressed tumor formation and metastasis in mice. AK4 may therefore represent a potential biomarker for the prognosis of bladder cancer.
      Title: Adenylate kinase 4 promotes bladder cancer cell proliferation and invasion.
    9. Our data revealed that both miR-199a-3p and its target gene AK4 are reversely correlated with the osteosarcoma drug resistance.
      Title: MiR-199a-3p affects the multi-chemoresistance of osteosarcoma through targeting AK4.
    10. Results found that AK4 was involved in hypoxia tolerance, resistance to anti-tumor drug, and the regulation of mitochondrial activity.
      Title: Modulation of anti-cancer drug sensitivity through the regulation of mitochondrial activity by adenylate kinase 4.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    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 search for common SNP x SNP interactions on the risk of venous thrombosis.
    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)

    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

    Clone Names

    • MGC166959

    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 CMP kinase activity 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 adenylate kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables dCMP kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleoside diphosphate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nucleoside diphosphate kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nucleoside monophosphate kinase activity TAS
    Traceable Author Statement
    more info
    		  
    NOT enables nucleoside triphosphate adenylate kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 ATP metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in GTP metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of cellular response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of oxidative phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ribonucleoside diphosphate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    adenylate kinase 4, mitochondrial
    Names
    ATP-AMP transphosphorylase
    GTP:AMP phosphotransferase AK4, mitochondrial
    adenylate kinase 3-like 1
    adenylate kinase isoenzyme 4, mitochondrial
    epididymis secretory sperm binding protein
    mitochondrial adenylate kinase-3
    nucleoside-triphosphate-adenylate kinase
    NP_001005353.1
    NP_001317545.1
    NP_037542.1
    NP_982289.1
    XP_016856102.1
    XP_047305130.1
    XP_054191032.1
    XP_054191033.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001005353.3 → NP_001005353.1  adenylate kinase 4, mitochondrial isoform a

      See identical proteins and their annotated locations for NP_001005353.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      AL356212, BC016180, BG703687, DR003868
      Consensus CDS
      CCDS629.1
      UniProtKB/Swiss-Prot
      B2R927, D3DQ62, P27144, Q6IBH4, Q6NXQ5, Q8IUU9
      UniProtKB/TrEMBL
      A0A384N647
      Related
      ENSP00000378743.2, ENST00000395334.6
      Conserved Domains (1) summary
      pfam00406
      Location:10 → 188
      ADK; Adenylate kinase

    2. NM_001330616.2 → NP_001317545.1  adenylate kinase 4, mitochondrial isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AC099680, AL356212
      Consensus CDS
      CCDS81340.1
      UniProtKB/TrEMBL
      F8VS11
      Conserved Domains (1) summary
      pfam00406
      Location:1 → 136
      ADK; Adenylate kinase

    3. NM_013410.4 → NP_037542.1  adenylate kinase 4, mitochondrial isoform a

      See identical proteins and their annotated locations for NP_037542.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      AL356212, BC040224, DB061266
      Consensus CDS
      CCDS629.1
      UniProtKB/Swiss-Prot
      B2R927, D3DQ62, P27144, Q6IBH4, Q6NXQ5, Q8IUU9
      UniProtKB/TrEMBL
      A0A384N647
      Related
      ENSP00000322175.7, ENST00000327299.8
      Conserved Domains (1) summary
      pfam00406
      Location:10 → 188
      ADK; Adenylate kinase

    4. NM_203464.3 → NP_982289.1  adenylate kinase 4, mitochondrial isoform a

      See identical proteins and their annotated locations for NP_982289.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
      Source sequence(s)
      AL356212, BC016180, BM763432
      Consensus CDS
      CCDS629.1
      UniProtKB/Swiss-Prot
      B2R927, D3DQ62, P27144, Q6IBH4, Q6NXQ5, Q8IUU9
      UniProtKB/TrEMBL
      A0A384N647
      Related
      ENSP00000445912.1, ENST00000545314.5
      Conserved Domains (1) summary
      pfam00406
      Location:10 → 188
      ADK; Adenylate kinase

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      65147552..65232145
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000613.2 → XP_016856102.1  adenylate kinase 4, mitochondrial isoform X1

      UniProtKB/TrEMBL
      F8VS11
      Conserved Domains (1) summary
      pfam00406
      Location:1 → 136
      ADK; Adenylate kinase

    2. XM_047449174.1 → XP_047305130.1  adenylate kinase 4, mitochondrial isoform X1

      UniProtKB/TrEMBL
      F8VS11
      Related
      ENSP00000448458.1, ENST00000546702.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      65025531..65110134
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335058.1 → XP_054191033.1  adenylate kinase 4, mitochondrial isoform X1

      UniProtKB/TrEMBL
      F8VS11

    2. XM_054335057.1 → XP_054191032.1  adenylate kinase 4, mitochondrial isoform X1

      UniProtKB/TrEMBL
      F8VS11
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P27144.1 GenPept UniProtKB/Swiss-Prot:P27144

    Gene LinkOut

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