LOCUS       NM_152327               3283 bp    mRNA    linear   PRI 19-AUG-2024
DEFINITION  Homo sapiens adenylate kinase 7 (AK7), transcript variant 1, mRNA.
ACCESSION   NM_152327
VERSION     NM_152327.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3283)
  AUTHORS   Chang,T., Tang,H., Zhou,X., He,J., Liu,N., Li,Y., Xiang,W. and
            Yao,Z.
  TITLE     A novel homozygous nonsense variant of AK7 is associated with
            multiple morphological abnormalities of the sperm flagella
  JOURNAL   Reprod Biomed Online 48 (5), 103765 (2024)
   PUBMED   38492416
  REMARK    GeneRIF: A novel homozygous nonsense variant of AK7 is associated
            with multiple morphological abnormalities of the sperm flagella.
REFERENCE   2  (bases 1 to 3283)
  AUTHORS   Wang,H.S., Zhu,Y. and Sun,F.
  TITLE     [Expressions of the adenylate kinase family in asthenospermia]
  JOURNAL   Zhonghua Nan Ke Xue 25 (12), 1077-1082 (2019)
   PUBMED   32251557
  REMARK    GeneRIF: 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.
REFERENCE   3  (bases 1 to 3283)
  AUTHORS   Lores,P., Coutton,C., El Khouri,E., Stouvenel,L., Givelet,M.,
            Thomas,L., Rode,B., Schmitt,A., Louis,B., Sakheli,Z., Chaudhry,M.,
            Fernandez-Gonzales,A., Mitsialis,A., Dacheux,D., Wolf,J.P.,
            Papon,J.F., Gacon,G., Escudier,E., Arnoult,C., Bonhivers,M.,
            Savinov,S.N., Amselem,S., Ray,P.F., Dulioust,E. and Toure,A.
  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
  JOURNAL   Hum Mol Genet 27 (7), 1196-1211 (2018)
   PUBMED   29365104
  REMARK    GeneRIF: a novel genetic cause of asthenozoospermia due to MMAF and
            suggests that in humans, more deleterious mutations of AK7 might
            induce primary ciliary dyskinesia.
REFERENCE   4  (bases 1 to 3283)
  AUTHORS   Amiri,M., Conserva,F., Panayiotou,C., Karlsson,A. and Solaroli,N.
  TITLE     The human adenylate kinase 9 is a nucleoside mono- and diphosphate
            kinase
  JOURNAL   Int J Biochem Cell Biol 45 (5), 925-931 (2013)
   PUBMED   23416111
REFERENCE   5  (bases 1 to 3283)
  AUTHORS   Mata,M., Lluch-Estelles,J., Armengot,M., Sarrion,I., Carda,C. and
            Cortijo,J.
  TITLE     New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia
  JOURNAL   Am J Rhinol Allergy 26 (4), 260-264 (2012)
   PUBMED   22801010
  REMARK    GeneRIF: AK7 may be involved in the development of Primary ciliary
            dyskinesia (PCD).
REFERENCE   6  (bases 1 to 3283)
  AUTHORS   Panayiotou,C., Solaroli,N., Xu,Y., Johansson,M. and Karlsson,A.
  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
  JOURNAL   Biochem J 433 (3), 527-534 (2011)
   PUBMED   21080915
  REMARK    GeneRIF: 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
REFERENCE   7  (bases 1 to 3283)
  AUTHORS   Milara,J., Armengot,M., Mata,M., Morcillo,E.J. and Cortijo,J.
  TITLE     Role of adenylate kinase type 7 expression on cilia motility:
            possible link in primary ciliary dyskinesia
  JOURNAL   Am J Rhinol Allergy 24 (3), 181-185 (2010)
   PUBMED   20537283
  REMARK    GeneRIF: expression is decreased in patients with primary ciliary
            dyskinesia and is correlated with ciliary beat frequency of nasal
            epithelium cellsepithelium
REFERENCE   8  (bases 1 to 3283)
  AUTHORS   Van Rompay,A.R., Johansson,M. and Karlsson,A.
  TITLE     Identification of a novel human adenylate kinase. cDNA cloning,
            expression analysis, chromosome localization and characterization
            of the recombinant protein
  JOURNAL   Eur J Biochem 261 (2), 509-517 (1999)
   PUBMED   10215863
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK057426.1, BC035256.1,
            AL359240.4, AL163051.5 and BM981526.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_152327.4.
            
            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].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.48747.1,
                                           SRR1803613.229181.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000267584.9/ ENSP00000267584.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-331               AK057426.1         18-348
            332-1007            BC035256.1         338-1013
            1008-1193           AK057426.1         1025-1210
            1194-1194           AL359240.4         161674-161674
            1195-1255           AK057426.1         1212-1272
            1256-1840           BC035256.1         1262-1846
            1841-2562           AK057426.1         1858-2579
            2563-2699           AL163051.5         64009-64145
            2700-3283           BM981526.1         19-602              c
FEATURES             Location/Qualifiers
     source          1..3283
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.2"
     gene            1..3283
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /note="adenylate kinase 7"
                     /db_xref="GeneID:122481"
                     /db_xref="HGNC:HGNC:20091"
                     /db_xref="MIM:615364"
     exon            1..132
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /inference="alignment:Splign:2.1.0"
     CDS             28..2199
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /EC_number="2.7.4.3"
                     /EC_number="2.7.4.6"
                     /note="isoform 1 is encoded by transcript variant 1;
                     putative adenylate kinase 7; ATP-AMP transphosphorylase 7"
                     /codon_start=1
                     /product="adenylate kinase 7 isoform 1"
                     /protein_id="NP_689540.2"
                     /db_xref="CCDS:CCDS9945.1"
                     /db_xref="GeneID:122481"
                     /db_xref="HGNC:HGNC:20091"
                     /db_xref="MIM:615364"
                     /translation="MAEEEETAALTEKVIRTQRVFINLLDSYSSGNIGKFLSNCVVGA
                     SLEEITEEEEEEDENKSAMLEASSTKVKEGTFQIVGTLSKPDSPRPDFAVETYSAISR
                     EDLLMRLLECDVIIYNITESSQQMEEAIWAVSALSEEVSHFEKRKLFILLSTVMTWAR
                     SKALDPEDSEVPFTEEDYRRRKSHPNFLDHINAEKMVLKFGKKARKFAAYVVAAGLQY
                     GAEGGMLHTFFKMAWLGEIPALPVFGDGTNVIPTIHVLDLAGVIQNVIDHVPKPHYLV
                     AVDESVHTLEDIVKCISKNTGPGKIQKIPRENAYLTKDLTQDCLDHLLVNLRMEALFV
                     KENFNIRWAAQTGFVENINTILKEYKQSRGLMPIKICILGPPAVGKSSIAKELANYYK
                     LHHIQLKDVISEAIAKLEAIVAPNDVGEGEEEVEEEEEEENVEDAQELLDGIKESMEQ
                     NAGQLDDQYIIRFMKEKLKSMPCRNQGYILDGFPKTYDQAKDLFNQEDEEEEDDVRGR
                     MFPFDKLIIPEFVCALDASDEFLKERVINLPESIVAGTHYSQDRFLRALSNYRDINID
                     DETVFNYFDELEIHPIHIDVGKLEDAQNRLAIKQLIKEIGEPRNYGLTDEEKAEEERK
                     AAEERLAREAAEEAEREHQEAVEMAEKIARWEEWNKRLEEVKREERELLEAQSIPLRN
                     YLMTYVMPTLIQGLNECCNVRPEDPVDFLAEYLFKNNPEAQ"
     exon            133..321
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /inference="alignment:Splign:2.1.0"
     exon            322..430
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /inference="alignment:Splign:2.1.0"
     exon            431..525
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /inference="alignment:Splign:2.1.0"
     exon            526..636
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /inference="alignment:Splign:2.1.0"
     exon            637..717
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /inference="alignment:Splign:2.1.0"
     exon            718..806
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /inference="alignment:Splign:2.1.0"
     exon            807..897
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /inference="alignment:Splign:2.1.0"
     exon            898..975
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /inference="alignment:Splign:2.1.0"
     exon            976..1125
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /inference="alignment:Splign:2.1.0"
     exon            1126..1254
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /inference="alignment:Splign:2.1.0"
     exon            1255..1384
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /inference="alignment:Splign:2.1.0"
     exon            1385..1513
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /inference="alignment:Splign:2.1.0"
     exon            1514..1582
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /inference="alignment:Splign:2.1.0"
     exon            1583..1780
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /inference="alignment:Splign:2.1.0"
     exon            1781..2001
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /inference="alignment:Splign:2.1.0"
     exon            2002..2160
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /inference="alignment:Splign:2.1.0"
     exon            2161..3283
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3260..3265
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /note="hexamer: AATAAA"
     polyA_site      3283
                     /gene="AK7"
                     /gene_synonym="AK 7; CFAP75; FAP75; SPGF27"
                     /note="major polyA site"
ORIGIN      
        1 accttagcaa ccagcgcggc tcccaccatg gctgaagaag aggaaactgc tgctctcacg
       61 gagaaggtta tccggaccca gagggtgttt ataaacctgt tggattccta cagcagcgga
      121 aacatcggga agtttctatc taactgtgta gttggggctt cgcttgaaga aattacagag
      181 gaagaggaag aggaagatga aaataagtca gctatgctgg aagcttcctc aaccaaagtg
      241 aaggaaggca cattccagat tgtgggcacg ctgtccaagc ctgacagccc gcggcctgac
      301 tttgcggtgg agacgtactc tgccatctct cgagaagacc ttctcatgcg cctgctggag
      361 tgtgatgtta ttatttataa catcactgag agctcacagc aaatggagga agccatctgg
      421 gcagtctctg cactcagtga agaagtcagc cactttgaaa agcgaaagct atttatttta
      481 ctgtcgacgg tgatgacttg ggcgcgctcc aaagccctgg accccgagga ttctgaggtt
      541 ccattcactg aagaagatta tcgaagaaga aagtctcatc ctaattttct ggaccacata
      601 aatgctgaaa aaatggttct caaatttgga aaaaaggcca gaaaatttgc agcatacgta
      661 gttgctgctg gactccagta tggagcggaa ggaggcatgt tacacacatt ttttaagatg
      721 gcttggttgg gcgagattcc tgcattacca gtttttggcg atggaacaaa tgtaattcca
      781 acaatccatg ttcttgatct agcaggagtg atacaaaacg tcatagatca cgtgccaaag
      841 cctcactacc tggttgctgt ggatgagtct gttcataccc tggaagacat agtcaagtgt
      901 atcagtaaaa atactggccc tgggaaaatc cagaaaatac ccagagaaaa tgcataccta
      961 accaaggact taacgcaaga ttgtcttgac catttactgg tcaacttaag aatggaagcg
     1021 ctctttgtga aggagaattt taatattcga tgggctgccc aaacaggatt tgtggaaaat
     1081 atcaacacta tcctcaagga gtacaagcaa agcagaggat tgatgccaat caagatctgc
     1141 attcttggtc cccctgctgt gggaaaatcc agtattgcta aagaattggc caactactac
     1201 aaactgcatc acatccaact gaaggatgtc atttctgaag ccatagcaaa actggaggcg
     1261 attgttgccc ctaacgatgt aggggaagga gaagaagaag tcgaagagga agaggaggag
     1321 gagaatgtgg aagatgcaca ggagctccta gatggcatca aggagagcat ggagcagaat
     1381 gcaggtcaac tagacgatca atatataatt agatttatga aagaaaagct aaaatcaatg
     1441 ccttgcagga atcaaggtta tattttggat ggattcccaa agacctatga tcaagcaaaa
     1501 gacctgttca atcaggaaga tgaggaggag gaagatgatg tcagaggcag aatgtttccc
     1561 tttgataaat taattatacc tgaattcgtt tgtgcactgg atgcttcgga tgagtttctg
     1621 aaggagcgtg tgataaacct tcctgagagc atcgtggcgg ggacccacta cagccaagac
     1681 cgattcctcc gggctctgag caactaccgg gacatcaata tcgacgatga gactgtcttc
     1741 aactattttg atgaacttga aattcacccg atacatattg atgtaggaaa acttgaagat
     1801 gctcagaata gacttgctat caaacagctc atcaaagaga ttggggagcc tcgaaattat
     1861 ggtttaacag acgaagaaaa ggcagaagag gagcggaagg ctgcggagga gcggctggcc
     1921 agggaggctg ctgaggaagc agaacgcgag caccaggagg ccgtggagat ggcagagaag
     1981 atagctcgct gggaggagtg gaataaacga ctggaggaag tgaaaagaga agaaagagaa
     2041 ttactggagg ctcagtcaat tcccctgaga aactatttaa tgacctatgt gatgccaact
     2101 cttattcagg gcctgaatga atgttgcaac gtccgacccg aagaccctgt tgattttctg
     2161 gcagaatatc tcttcaagaa caatcctgaa gcacagtgaa acttgaaaga tctggtatta
     2221 tctaccttta cagaaccaca gatcacttat tatactttga aaaattgctt tgaaaaatgc
     2281 ttttccagtt cttagaaaat tctttttttg tagacaaata ttctataaac tagaatctct
     2341 attaaaagct atatgacatg actatgtcat taaaactata tttgaaatgt aaattgataa
     2401 agacatttgt gcatagctca tgagacaaat actgatttaa tattttattc tttagtcaga
     2461 tctaaatata ccgcttctgt acactaatgt ttataggtat ttatagcatg aagaaaatca
     2521 gactatatat tgtagactat gtattattct aacatgtagg ctaatttaca tgacttgtta
     2581 tcgccccaat aacaatgtta ttagaaatgg aaataaattg aagtgattta tgcctgttga
     2641 ctcacagtaa atcagacaag attggtgcct gtaaggtggc tttttttttt ttttttttta
     2701 aatgaagcaa tggttaggga aaggttgctt tgagttcagg gtcaggatcc cagacaatga
     2761 atcggagaga actgtaaacc tttaggcgga gaaatctgca taacaggata attccaatct
     2821 ttgtgataag tgagaagttg ctaaatattt tcaacacact ttataacata ggcataagtt
     2881 atcaatccta tagtcttttc cagttctaaa aatcccataa gattcctaga attaccctaa
     2941 atgagaaatt agtttaggtt taatggcata tgtattttat ctctttaaat aatgtaacct
     3001 aatataactg cccgactttt tatttgtgct aaaatacatg taacataaaa ttgaccactg
     3061 taaccatttt aaagtgtata attcagtggc actaagttca ttcacaatga tctgcagcca
     3121 ccactatcta gtccagaact ttctcatcac cccaaatgga aacccagcac ctattaggca
     3181 gtcacgctcc attattccct ccccccagtt ccaggcaacc acgaatctgc tttctgtctc
     3241 tatggattta cctattataa ataaaaccat ataatgggtg gtc
//
