LOCUS       NM_001415082            2907 bp    mRNA    linear   ROD 30-MAR-2024
DEFINITION  Rattus norvegicus AFG2 AAA ATPase homolog A (Afg2a), mRNA.
ACCESSION   NM_001415082 XM_008760932
VERSION     NM_001415082.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 2907)
  AUTHORS   Puusepp,S., Kovacs-Nagy,R., Alhaddad,B., Braunisch,M.,
            Hoffmann,G.F., Kotzaeridou,U., Lichvarova,L., Liiv,M., Makowski,C.,
            Mandel,M., Meitinger,T., Pajusalu,S., Rodenburg,R.J., Safiulina,D.,
            Strom,T.M., Talvik,I., Vaarmann,A., Wilson,C., Kaasik,A.,
            Haack,T.B. and Ounap,K.
  TITLE     Compound heterozygous SPATA5 variants in four families and
            functional studies of SPATA5 deficiency
  JOURNAL   Eur J Hum Genet 26 (3), 407-419 (2018)
   PUBMED   29343804
  REMARK    GeneRIF: SPATA5-deficient neurons had a significant imbalance in
            the mitochondrial fusion-fission rate, impaired energy production
            and short axons.
REFERENCE   2  (bases 1 to 2907)
  AUTHORS   Tanaka,A.J., Cho,M.T., Millan,F., Juusola,J., Retterer,K.,
            Joshi,C., Niyazov,D., Garnica,A., Gratz,E., Deardorff,M.,
            Wilkins,A., Ortiz-Gonzalez,X., Mathews,K., Panzer,K., Brilstra,E.,
            van Gassen,K.L., Volker-Touw,C.M., van Binsbergen,E., Sobreira,N.,
            Hamosh,A., McKnight,D., Monaghan,K.G. and Chung,W.K.
  TITLE     Mutations in SPATA5 Are Associated with Microcephaly, Intellectual
            Disability, Seizures, and Hearing Loss
  JOURNAL   Am J Hum Genet 97 (3), 457-464 (2015)
   PUBMED   26299366
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            JAXUCZ010000002.1.
            
            On Dec 21, 2022 this sequence version replaced XM_008760932.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR26360194.747715.1,
                                           SRR26360190.343107.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA5760383, SAMEA5760386
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-214               JAXUCZ010000002.1  122234883-122235096
            215-339             JAXUCZ010000002.1  122238996-122239120
            340-497             JAXUCZ010000002.1  122240580-122240737
            498-556             JAXUCZ010000002.1  122244276-122244334
            557-1201            JAXUCZ010000002.1  122245763-122246407
            1202-1331           JAXUCZ010000002.1  122247228-122247357
            1332-1388           JAXUCZ010000002.1  122247743-122247799
            1389-1512           JAXUCZ010000002.1  122251281-122251404
            1513-1768           JAXUCZ010000002.1  122253453-122253708
            1769-1923           JAXUCZ010000002.1  122259830-122259984
            1924-2133           JAXUCZ010000002.1  122272139-122272348
            2134-2187           JAXUCZ010000002.1  122283416-122283469
            2188-2267           JAXUCZ010000002.1  122285097-122285176
            2268-2394           JAXUCZ010000002.1  122290520-122290646
            2395-2559           JAXUCZ010000002.1  122362212-122362376
            2560-2907           JAXUCZ010000002.1  122425461-122425808
FEATURES             Location/Qualifiers
     source          1..2907
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="BN"
                     /db_xref="taxon:10116"
                     /chromosome="2"
                     /map="2q25"
     gene            1..2907
                     /gene="Afg2a"
                     /gene_synonym="Spata5"
                     /note="AFG2 AAA ATPase homolog A"
                     /db_xref="GeneID:361935"
                     /db_xref="RGD:1310478"
     exon            1..214
                     /gene="Afg2a"
                     /gene_synonym="Spata5"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..2736
                     /gene="Afg2a"
                     /gene_synonym="Spata5"
                     /EC_number="3.6.4.10"
                     /note="spermatogenesis-associated protein 5;
                     spermatogenesis associated 5; ATPase family protein 2
                     homolog; ribosome biogenesis protein SPATA5"
                     /codon_start=1
                     /product="ATPase family gene 2 protein homolog A"
                     /protein_id="NP_001402011.1"
                     /db_xref="GeneID:361935"
                     /db_xref="RGD:1310478"
                     /translation="MSSKKNRKRQKEGAEGTSPSLSAASSRSGTSTPLAQPNVAAPGM
                     LVVTNFLEKVDGKVPKTFQNSLVHLGLNTMKSANICIGRPVLLTSLDGKQEVYTAWPV
                     AGFPGGKVGLSEMAQKNVGVKAGETIRVQPLLGAVLQAQEMDLALSDKDKEINEEELT
                     GCILRKLDGKIVLPGNFLYCTFYGRLCKLQVLQVKGTDGTTLGKPQSSSGTDVHGMAS
                     EQSSMESSDVDISFQLSQLDLKEPQSPASQSTPCKPINDRTMNKAGEVLLDVTQSPRD
                     GSGLGLEEITGLKCSFDSSKEGNTQPISEEKLLKSTSAGAKNNTDTFYFISSTTRINL
                     RKICTNSKEQDSQFKVTYDMIGGLNSQLKAIREIIELPLKQPELFKSYGIPAPRGLLL
                     YGPPGTGKTMIARAVANEVGAYVSVINGPEIISKFYGETEARLRQIFAEATLRHPSII
                     FIDELDALCPKREGAQSEVEKRVVASLLTLMDGIGSEGSEGRVLVLGATNRPQALDAA
                     LRRPGRFDKEIEIGIPNAQDRLDILQKLLRRVPHLLTKAELLRLANNAHGYVGADLKA
                     LCNEAGLYALRRVLRKQPNLPDSKVAGMVKITLNDFLQGMNDIRPSAMREVAIDVPNV
                     SWSDIGGLENIKLKLKQAVEWPLKHPKSFSRMGIQPPKGVLLYGPPGCSKTMIAKALA
                     NESGLNFLAIKGPELMNKYVGESERAVREVFRKARAVAPSIIFFDELDALAVERGSSS
                     GAGNVADRVLAQLLTEMDGIEQLKNVTVLAATNRPDRIDKALMRPGRIDRIIYVPLPD
                     AATRREILNLQFHSMPISNEVDLDELVLQTDTYSGAEIIAVCKEAALLALEENIKADC
                     IMKRHFTQALSIVTPRIPESLRRFYEDYQEKSGLHMV"
     exon            215..339
                     /gene="Afg2a"
                     /gene_synonym="Spata5"
                     /inference="alignment:Splign:2.1.0"
     exon            340..497
                     /gene="Afg2a"
                     /gene_synonym="Spata5"
                     /inference="alignment:Splign:2.1.0"
     exon            498..556
                     /gene="Afg2a"
                     /gene_synonym="Spata5"
                     /inference="alignment:Splign:2.1.0"
     exon            557..1201
                     /gene="Afg2a"
                     /gene_synonym="Spata5"
                     /inference="alignment:Splign:2.1.0"
     exon            1202..1331
                     /gene="Afg2a"
                     /gene_synonym="Spata5"
                     /inference="alignment:Splign:2.1.0"
     exon            1332..1388
                     /gene="Afg2a"
                     /gene_synonym="Spata5"
                     /inference="alignment:Splign:2.1.0"
     exon            1389..1512
                     /gene="Afg2a"
                     /gene_synonym="Spata5"
                     /inference="alignment:Splign:2.1.0"
     exon            1513..1768
                     /gene="Afg2a"
                     /gene_synonym="Spata5"
                     /inference="alignment:Splign:2.1.0"
     exon            1769..1923
                     /gene="Afg2a"
                     /gene_synonym="Spata5"
                     /inference="alignment:Splign:2.1.0"
     exon            1924..2133
                     /gene="Afg2a"
                     /gene_synonym="Spata5"
                     /inference="alignment:Splign:2.1.0"
     exon            2134..2187
                     /gene="Afg2a"
                     /gene_synonym="Spata5"
                     /inference="alignment:Splign:2.1.0"
     exon            2188..2267
                     /gene="Afg2a"
                     /gene_synonym="Spata5"
                     /inference="alignment:Splign:2.1.0"
     exon            2268..2394
                     /gene="Afg2a"
                     /gene_synonym="Spata5"
                     /inference="alignment:Splign:2.1.0"
     exon            2395..2559
                     /gene="Afg2a"
                     /gene_synonym="Spata5"
                     /inference="alignment:Splign:2.1.0"
     exon            2560..2907
                     /gene="Afg2a"
                     /gene_synonym="Spata5"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gtgccgcgca cgttgagccg gctttgggct gcttttctcc gacagcctgc ggtcatgtct
       61 tccaagaaga acagaaagcg acagaaagag ggcgcggagg ggacctcgcc ctcgctctct
      121 gcggcttcgt ctcgctcggg gacctcgact cctctcgctc agccgaacgt ggcggcgccg
      181 gggatgttgg tggtgaccaa ctttcttgag aaagtagatg gcaaagttcc taagacattc
      241 cagaattccc tagttcatct tggacttaac actatgaagt ctgcaaacat atgtataggt
      301 cgaccagtgc tccttaccag tttggatgga aagcaggagg tttatacagc ctggccagtt
      361 gcaggatttc ctggaggcaa ggttggtcta agtgaaatgg cacagaagaa tgtgggtgtg
      421 aaagctggtg agaccatccg ggtccaacct cttttgggtg ctgtacttca ggcccaggaa
      481 atggacttgg cactgagtga caaagataag gaaattaatg aagaagaact gactggttgt
      541 attctgagaa aactagatgg caagattgtt ttaccaggca actttctgta ctgtacattc
      601 tatggacgac tctgcaagtt acaagtgttg caagtaaaag ggacagatgg cacaacattg
      661 ggaaagcctc agagctcctc tggcactgat gtccatggaa tggcctctga gcagtctagc
      721 atggaaagca gtgatgtgga tatttcattc cagctaagcc agttagatct gaaagaacct
      781 cagagcccag catcacagag tactccctgt aaacccatca atgacagaac tatgaataaa
      841 gctggtgaag ttttgttgga tgttacacag agccctaggg atggaagtgg acttggacta
      901 gaggaaatca cagggcttaa gtgtagtttt gattcatcca aagaaggaaa tacacaacct
      961 atcagtgaag agaaactact aaaatctact agtgcaggtg caaagaacaa tactgatact
     1021 ttttatttta tttcttcaac aacaagaatc aatcttcgaa aaatttgtac aaattcaaaa
     1081 gaacaagaca gtcagttcaa agtaacttat gacatgattg gaggcttaaa cagtcagctg
     1141 aaagcaataa gagaaataat tgaactgcct ctcaagcagc ctgaactttt caagagttac
     1201 ggaattccag cacctagagg gttattactc tatggtcctc caggtaccgg aaagacaatg
     1261 attgctaggg ctgttgctaa tgaagttgga gcttatgttt ctgtaattaa tggtcctgaa
     1321 attataagca aattctatgg tgagactgaa gcaaggttac gccagatatt tgctgaagcc
     1381 actctacggc atccatcgat tatttttatt gatgagctgg atgcactttg ccctaaaaga
     1441 gaaggagctc aaagtgaagt ggaaaagaga gttgtagctt cgctcttaac attgatggat
     1501 ggcattggct cagaaggaag tgaaggacgg gtattagtcc ttggggccac aaatcgccct
     1561 caagcgctag atgctgcact cagaagacct gggcgatttg ataaagagat tgagattggc
     1621 attcctaatg cccaagaccg gcttgatatt ctccagaaac tactccgaag ggtgccacac
     1681 ttactcacca aagctgagct tctgagattg gcaaataatg cccatggtta tgttggcgca
     1741 gacttgaaag ccttgtgtaa tgaagcaggt ctgtatgcct tgcgaagagt cctgaggaaa
     1801 cagcctaatc tccctgatag caaggtggct ggcatggtga agattaccct aaatgatttc
     1861 ttacagggga tgaatgatat caggcctagt gctatgagag aggtagcaat tgatgtccca
     1921 aatgtatcct ggtcagatat tggaggactg gaaaatatca aactgaaatt gaaacaggct
     1981 gtggaatggc ccttgaaaca tcctaagtct ttcagcagaa tgggtattca gccacctaaa
     2041 ggagttctct tgtatgggcc tcctggatgc tcaaaaacaa tgatagcaaa ggctttggcc
     2101 aatgaaagtg ggttgaactt tctagctata aaggggcctg aattaatgaa taagtatgtt
     2161 ggtgaatctg aaagagcagt tagagaggta ttccgtaaag caagagcagt ggcaccttcc
     2221 attatctttt ttgatgaact tgatgccttg gctgttgaaa ggggcagttc ttcaggtgcc
     2281 gggaatgttg cagatcgtgt tttggctcag ctgttaacgg aaatggatgg aattgaacag
     2341 ctaaaaaatg tgacagtttt ggcagctact aatcgcccag atagaataga caaggctctg
     2401 atgaggcctg gaagaattga caggatcatt tatgtgccct taccggatgc agcaacaaga
     2461 agggaaatac tgaacttgca gttccactca atgccaatca gtaacgaggt tgacctggat
     2521 gaactggtcc tccaaactga cacctactca ggagcagaga tcatagcagt ctgcaaggag
     2581 gccgctctcc tagctctgga agaaaacatt aaagctgact gcattatgaa gaggcatttc
     2641 actcaagcct tgagcattgt gacacccaga atcccggagt cactgaggcg cttttatgaa
     2701 gattaccaag agaagagtgg gttacacatg gtctaagaaa tacctatgtg catatatttt
     2761 ctagaaaaaa gtttgtattc aaattttgtc ttgagagtgt ttacggtttc ttaataggta
     2821 aatgtttgaa atcctcactg gagttgaaga gccaaatgtt ttgagtcatt ctagtacaat
     2881 aaacatttct ccgggcatgt gttcaaa
//
