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AK7 adenylate kinase 7 [ Homo sapiens (human) ]

Gene ID: 122481, updated on 27-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (96392128..96489427)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (90623724..90721030)
RS_2024_09 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. A novel homozygous nonsense variant of AK7 is associated with multiple morphological abnormalities of the sperm flagella. Chang T, et al. Reprod Biomed Online, 2024 May. PMID 38492416
  2. 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
  3. New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. Mata M, et al. Am J Rhinol Allergy, 2012 Jul-Aug. PMID 22801010
  4. 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
  5. [Expressions of the adenylate kinase family in asthenospermia]. Wang HS, et al. Zhonghua Nan Ke Xue, 2019 Dec. PMID 32251557

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A novel homozygous nonsense variant of AK7 is associated with multiple morphological abnormalities of the sperm flagella.
    Title: A novel homozygous nonsense variant of AK7 is associated with multiple morphological abnormalities of the sperm flagella.
  2. 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].
  3. 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.
  4. AK7 may be involved in the development of Primary ciliary dyskinesia (PCD).
    Title: New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia.
  5. 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.
  6. 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.
  7. 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
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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

  • FLJ32864

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables (d)CMP kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables (d)CMP kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
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 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_2024_08

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

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