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    AK7 adenylate kinase 7 [ Homo sapiens (human) ]

    Gene ID: 122481, updated on 2-May-2024

    Summary

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    Official Symbol
    AK7provided by HGNC
    Official Full Name
    adenylate kinase 7provided by HGNC
    Primary source
    HGNC:HGNC:20091
    See related
    Ensembl:ENSG00000140057 MIM:615364; AllianceGenome:HGNC:20091
    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
    AK 7; FAP75; CFAP75; SPGF27
    Summary
    This gene encodes a member of the adenylate kinase family of enzymes. The encoded enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This enzyme plays a role in energy homeostasis of the cell. Alternative splicing results in multiple transcript variants. Mutations in the mouse gene are associated with primary ciliary dyskinesia. [provided by RefSeq, Apr 2017]
    Expression
    Broad expression in testis (RPKM 4.1), lung (RPKM 2.2) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AK7 in Genome Data Viewer
    Location:
    14q32.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (96392128..96489427)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (90623724..90721030)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (96858465..96955764)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene autophagy related 2B Neighboring gene uncharacterized LOC124903430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8985 Neighboring gene Sharpr-MPRA regulatory region 11883 Neighboring gene GSK3B interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6054 Neighboring gene RNA, U2 small nuclear 33, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr14:96878860-96878992 Neighboring gene translation machinery-associated protein 7-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8986 Neighboring gene phosphatidylethanolamine binding protein 1 pseudogene 1 Neighboring gene ribosomal protein L23a pseudogene 10 Neighboring gene MPRA-validated peak2245 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:96967424-96968020 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:96968021-96968615 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:96968616-96969211 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:96970367-96970868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:96970869-96971368 Neighboring gene PAPOLA divergent transcript Neighboring gene poly(A) polymerase alpha

    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. Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia. Lorès P, et al. Hum Mol Genet, 2018 Apr 1. PMID 29365104
    2. New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. Mata M, et al. Am J Rhinol Allergy, 2012 Jul-Aug. PMID 22801010
    3. Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. Milara J, et al. Am J Rhinol Allergy, 2010 May-Jun. PMID 20537283
    4. [Expressions of the adenylate kinase family in asthenospermia]. Wang HS, et al. Zhonghua Nan Ke Xue, 2019 Dec. PMID 32251557
    5. The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization among the family of adenylate kinase isoenzymes. Panayiotou C, et al. Biochem J, 2011 Feb 1. PMID 21080915

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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].
    2. a novel genetic cause of asthenozoospermia due to MMAF and suggests that in humans, more deleterious mutations of AK7 might induce primary ciliary dyskinesia.
      Title: Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
    3. AK7 may be involved in the development of Primary ciliary dyskinesia (PCD).
      Title: New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia.
    4. Both AK7 and full-length AK8 showed highest affinity for AMP with ATP as the phosphate donor, and proved to be more efficient in AMP phosphorylation as compared with the major cytosolic isoform AK1
      Title: The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization among the family of adenylate kinase isoenzymes.
    5. expression is decreased in patients with primary ciliary dyskinesia and is correlated with ciliary beat frequency of nasal epithelium cellsepithelium
      Title: Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    Associated conditions

    Description Tests
    Spermatogenic failure 27
    MedGen: C4693784 OMIM: 617965 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)

    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

    Clone Names

    • FLJ32864

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables adenylate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables adenylate kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cytidylate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cytidylate kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 
    Process Evidence Code Pubs
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nucleoside monophosphate 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
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    adenylate kinase 7
    Names
    ATP-AMP transphosphorylase 7
    putative adenylate kinase 7
    NP_001337817.1
    NP_001337819.1
    NP_001337820.1
    NP_001337821.1
    NP_689540.2
    XP_006720084.1
    XP_006720085.1
    XP_016876447.1
    XP_016876449.1
    XP_047286869.1
    XP_054231314.1
    XP_054231315.1
    XP_054231316.1
    XP_054231317.1
    XP_054231318.1

    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_054631.1 RefSeqGene

      Range
      5018..102317
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001350888.2 → NP_001337817.1  adenylate kinase 7 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL163051, AL359240, BM981526
      Conserved Domains (3) summary
      COG0451
      Location:147 → 310
      WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]
      cd01428
      Location:369 → 525
      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 ...
      pfam05186
      Location:656 → 688
      Dpy-30; Dpy-30 motif

    2. NM_001350890.2 → NP_001337819.1  adenylate kinase 7 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL163051, AL359240, BM981526
      Conserved Domains (3) summary
      COG0451
      Location:147 → 310
      WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]
      cd01428
      Location:369 → 525
      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 ...
      pfam05186
      Location:656 → 697
      Dpy-30; Dpy-30 motif

    3. NM_001350891.2 → NP_001337820.1  adenylate kinase 7 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL163051, AL359240, BM981526
      Conserved Domains (3) summary
      COG0451
      Location:147 → 290
      WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]
      cd01428
      Location:343 → 522
      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 ...
      pfam05186
      Location:653 → 694
      Dpy-30; Dpy-30 motif

    4. NM_001350892.2 → NP_001337821.1  adenylate kinase 7 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL163051, AL359240, BM981526
      Conserved Domains (3) summary
      COG0451
      Location:147 → 310
      WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]
      pfam05186
      Location:613 → 654
      Dpy-30; Dpy-30 motif
      cl17190
      Location:369 → 482
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    5. NM_152327.5 → NP_689540.2  adenylate kinase 7 isoform 1

      See identical proteins and their annotated locations for NP_689540.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK057426, AL163051, AL359240, BC035256, BM981526
      Consensus CDS
      CCDS9945.1
      UniProtKB/Swiss-Prot
      Q8IYP6, Q96M32
      Related
      ENSP00000267584.4, ENST00000267584.9
      Conserved Domains (4) summary
      COG0451
      Location:147 → 310
      WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]
      cd01428
      Location:369 → 548
      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 ...
      pfam05186
      Location:679 → 720
      Dpy-30; Dpy-30 motif
      cl21454
      Location:149 → 307
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      96392128..96489427
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006720021.3 → XP_006720084.1  adenylate kinase 7 isoform X1

      Conserved Domains (5) summary
      COG0451
      Location:147 → 310
      WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]
      cd01428
      Location:369 → 548
      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 ...
      pfam05186
      Location:679 → 711
      Dpy-30; Dpy-30 motif
      pfam13900
      Location:713 → 730
      GVQW; Putative domain of unknown function
      cl21454
      Location:149 → 307
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. XM_017020958.2 → XP_016876447.1  adenylate kinase 7 isoform X4

    3. XM_006720022.3 → XP_006720085.1  adenylate kinase 7 isoform X2

      Conserved Domains (5) summary
      COG0451
      Location:147 → 290
      WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]
      cd01428
      Location:343 → 522
      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 ...
      pfam05186
      Location:653 → 685
      Dpy-30; Dpy-30 motif
      pfam13900
      Location:687 → 704
      GVQW; Putative domain of unknown function
      cl21454
      Location:149 → 290
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    4. XM_047430913.1 → XP_047286869.1  adenylate kinase 7 isoform X3

    5. XM_017020960.2 → XP_016876449.1  adenylate kinase 7 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      90623724..90721030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375339.1 → XP_054231314.1  adenylate kinase 7 isoform X1

    2. XM_054375342.1 → XP_054231317.1  adenylate kinase 7 isoform X4

    3. XM_054375340.1 → XP_054231315.1  adenylate kinase 7 isoform X2

    4. XM_054375341.1 → XP_054231316.1  adenylate kinase 7 isoform X3

    5. XM_054375343.1 → XP_054231318.1  adenylate kinase 7 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96M32.3 GenPept UniProtKB/Swiss-Prot:Q96M32

    Gene LinkOut

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

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