LOCUS       NM_024063               2561 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens AFG2 AAA ATPase homolog B (AFG2B), transcript variant
            1, mRNA.
ACCESSION   NM_024063
VERSION     NM_024063.3
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 2561)
  AUTHORS   Krishnamoorthy,V., Foglizzo,M., Dilley,R.L., Wu,A., Datta,A.,
            Dutta,P., Campbell,L.J., Degtjarik,O., Musgrove,L.J.,
            Calabrese,A.N., Zeqiraj,E. and Greenberg,R.A.
  TITLE     The SPATA5-SPATA5L1 ATPase complex directs replisome proteostasis
            to ensure genome integrity
  JOURNAL   Cell 187 (9), 2250-2268 (2024)
   PUBMED   38554706
REFERENCE   2  (bases 1 to 2561)
  AUTHORS   Ni,C., Schmitz,D.A., Lee,J., Pawlowski,K., Wu,J. and Buszczak,M.
  TITLE     Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5
            control a late step in human ribosome assembly
  JOURNAL   Cell Rep 38 (13), 110597 (2022)
   PUBMED   35354024
REFERENCE   3  (bases 1 to 2561)
  AUTHORS   Richard,E.M., Bakhtiari,S., Marsh,A.P.L., Kaiyrzhanov,R.,
            Wagner,M., Shetty,S., Pagnozzi,A., Nordlie,S.M., Guida,B.S.,
            Cornejo,P., Magee,H., Liu,J., Norton,B.Y., Webster,R.I., Worgan,L.,
            Hakonarson,H., Li,J., Guo,Y., Jain,M., Blesson,A., Rodan,L.H.,
            Abbott,M.A., Comi,A., Cohen,J.S., Alhaddad,B., Meitinger,T.,
            Lenz,D., Ziegler,A., Kotzaeridou,U., Brunet,T., Chassevent,A.,
            Smith-Hicks,C., Ekstein,J., Weiden,T., Hahn,A., Zharkinbekova,N.,
            Turnpenny,P., Tucci,A., Yelton,M., Horvath,R., Gungor,S., Hiz,S.,
            Oktay,Y., Lochmuller,H., Zollino,M., Morleo,M., Marangi,G.,
            Nigro,V., Torella,A., Pinelli,M., Amenta,S., Husain,R.A.,
            Grossmann,B., Rapp,M., Steen,C., Marquardt,I., Grimmel,M.,
            Grasshoff,U., Korenke,G.C., Owczarek-Lipska,M., Neidhardt,J.,
            Radio,F.C., Mancini,C., Claps Sepulveda,D.J., McWalter,K.,
            Begtrup,A., Crunk,A., Guillen Sacoto,M.J., Person,R., Schnur,R.E.,
            Mancardi,M.M., Kreuder,F., Striano,P., Zara,F., Chung,W.K.,
            Marks,W.A., van Eyk,C.L., Webber,D.L., Corbett,M.A., Harper,K.,
            Berry,J.G., MacLennan,A.H., Gecz,J., Tartaglia,M., Salpietro,V.,
            Christodoulou,J., Kaslin,J., Padilla-Lopez,S., Bilguvar,K.,
            Munchau,A., Ahmed,Z.M., Hufnagel,R.B., Fahey,M.C., Maroofian,R.,
            Houlden,H., Sticht,H., Mane,S.M., Rad,A., Vona,B., Jin,S.C.,
            Haack,T.B., Makowski,C., Hirsch,Y., Riazuddin,S. and Kruer,M.C.
  TITLE     Bi-allelic variants in SPATA5L1 lead to intellectual disability,
            spastic-dystonic cerebral palsy, epilepsy, and hearing loss
  JOURNAL   Am J Hum Genet 108 (10), 2006-2016 (2021)
   PUBMED   34626583
  REMARK    GeneRIF: Bi-allelic variants in SPATA5L1 lead to intellectual
            disability, spastic-dystonic cerebral palsy, epilepsy, and hearing
            loss.
REFERENCE   4  (bases 1 to 2561)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 2561)
  AUTHORS   Tin,A., Colantuoni,E., Boerwinkle,E., Kottgen,A., Franceschini,N.,
            Astor,B.C., Coresh,J. and Kao,W.H.
  TITLE     Using multiple measures for quantitative trait association
            analyses: application to estimated glomerular filtration rate
  JOURNAL   J Hum Genet 58 (7), 461-466 (2013)
   PUBMED   23535967
REFERENCE   6  (bases 1 to 2561)
  AUTHORS   Kottgen,A., Pattaro,C., Boger,C.A., Fuchsberger,C., Olden,M.,
            Glazer,N.L., Parsa,A., Gao,X., Yang,Q., Smith,A.V., O'Connell,J.R.,
            Li,M., Schmidt,H., Tanaka,T., Isaacs,A., Ketkar,S., Hwang,S.J.,
            Johnson,A.D., Dehghan,A., Teumer,A., Pare,G., Atkinson,E.J.,
            Zeller,T., Lohman,K., Cornelis,M.C., Probst-Hensch,N.M.,
            Kronenberg,F., Tonjes,A., Hayward,C., Aspelund,T., Eiriksdottir,G.,
            Launer,L.J., Harris,T.B., Rampersaud,E., Mitchell,B.D.,
            Arking,D.E., Boerwinkle,E., Struchalin,M., Cavalieri,M.,
            Singleton,A., Giallauria,F., Metter,J., de Boer,I.H.,
            Haritunians,T., Lumley,T., Siscovick,D., Psaty,B.M.,
            Zillikens,M.C., Oostra,B.A., Feitosa,M., Province,M., de
            Andrade,M., Turner,S.T., Schillert,A., Ziegler,A., Wild,P.S.,
            Schnabel,R.B., Wilde,S., Munzel,T.F., Leak,T.S., Illig,T.,
            Klopp,N., Meisinger,C., Wichmann,H.E., Koenig,W., Zgaga,L.,
            Zemunik,T., Kolcic,I., Minelli,C., Hu,F.B., Johansson,A., Igl,W.,
            Zaboli,G., Wild,S.H., Wright,A.F., Campbell,H., Ellinghaus,D.,
            Schreiber,S., Aulchenko,Y.S., Felix,J.F., Rivadeneira,F.,
            Uitterlinden,A.G., Hofman,A., Imboden,M., Nitsch,D.,
            Brandstatter,A., Kollerits,B., Kedenko,L., Magi,R., Stumvoll,M.,
            Kovacs,P., Boban,M., Campbell,S., Endlich,K., Volzke,H.,
            Kroemer,H.K., Nauck,M., Volker,U., Polasek,O., Vitart,V.,
            Badola,S., Parker,A.N., Ridker,P.M., Kardia,S.L., Blankenberg,S.,
            Liu,Y., Curhan,G.C., Franke,A., Rochat,T., Paulweber,B.,
            Prokopenko,I., Wang,W., Gudnason,V., Shuldiner,A.R., Coresh,J.,
            Schmidt,R., Ferrucci,L., Shlipak,M.G., van Duijn,C.M., Borecki,I.,
            Kramer,B.K., Rudan,I., Gyllensten,U., Wilson,J.F., Witteman,J.C.,
            Pramstaller,P.P., Rettig,R., Hastie,N., Chasman,D.I., Kao,W.H.,
            Heid,I.M. and Fox,C.S.
  TITLE     New loci associated with kidney function and chronic kidney disease
  JOURNAL   Nat Genet 42 (5), 376-384 (2010)
   PUBMED   20383146
REFERENCE   7  (bases 1 to 2561)
  AUTHORS   Kottgen,A., Glazer,N.L., Dehghan,A., Hwang,S.J., Katz,R., Li,M.,
            Yang,Q., Gudnason,V., Launer,L.J., Harris,T.B., Smith,A.V.,
            Arking,D.E., Astor,B.C., Boerwinkle,E., Ehret,G.B., Ruczinski,I.,
            Scharpf,R.B., Chen,Y.D., de Boer,I.H., Haritunians,T., Lumley,T.,
            Sarnak,M., Siscovick,D., Benjamin,E.J., Levy,D., Upadhyay,A.,
            Aulchenko,Y.S., Hofman,A., Rivadeneira,F., Uitterlinden,A.G., van
            Duijn,C.M., Chasman,D.I., Pare,G., Ridker,P.M., Kao,W.H.,
            Witteman,J.C., Coresh,J., Shlipak,M.G. and Fox,C.S.
  TITLE     Multiple loci associated with indices of renal function and chronic
            kidney disease
  JOURNAL   Nat Genet 41 (6), 712-717 (2009)
   PUBMED   19430482
  REMARK    GeneRIF: Observational study, meta-analysis, and genome-wide
            association study of gene-disease association. (HuGE Navigator)
REFERENCE   8  (bases 1 to 2561)
  AUTHORS   Tegha-Dunghu,J., Neumann,B., Reber,S., Krause,R., Erfle,H.,
            Walter,T., Held,M., Rogers,P., Hupfeld,K., Ruppert,T., Ellenberg,J.
            and Gruss,O.J.
  TITLE     EML3 is a nuclear microtubule-binding protein required for the
            correct alignment of chromosomes in metaphase
  JOURNAL   J Cell Sci 121 (Pt 10), 1718-1726 (2008)
   PUBMED   18445686
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC346759.1, AC025580.8, AK225463.1 and AA451905.1.
            
            On Nov 22, 2018 this sequence version replaced NM_024063.2.
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the functional protein.
            
            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 :: BC000981.2, BC051861.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305560.11/ ENSP00000305494.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-45                DC346759.1         16-60
            46-1162             AC025580.8         68871-69987
            1163-2491           AK225463.1         1124-2452
            2492-2561           AA451905.1         5-74                c
FEATURES             Location/Qualifiers
     source          1..2561
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1"
     gene            1..2561
                     /gene="AFG2B"
                     /gene_synonym="DFNB119; NEDHLS; SPATA5L1"
                     /note="AFG2 AAA ATPase homolog B"
                     /db_xref="GeneID:79029"
                     /db_xref="HGNC:HGNC:28762"
                     /db_xref="MIM:619578"
     exon            1..1183
                     /gene="AFG2B"
                     /gene_synonym="DFNB119; NEDHLS; SPATA5L1"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..2356
                     /gene="AFG2B"
                     /gene_synonym="DFNB119; NEDHLS; SPATA5L1"
                     /EC_number="3.6.4.10"
                     /note="isoform 1 is encoded by transcript variant 1;
                     spermatogenesis-associated protein 5-like protein 1;
                     ribosome biogenesis protein SPATA5L1; spermatogenesis
                     associated 5 like 1; ATPase family gene 2 protein homolog
                     B"
                     /codon_start=1
                     /product="ATPase family gene 2 protein homolog B isoform
                     1"
                     /protein_id="NP_076968.2"
                     /db_xref="CCDS:CCDS10123.1"
                     /db_xref="GeneID:79029"
                     /db_xref="HGNC:HGNC:28762"
                     /db_xref="MIM:619578"
                     /translation="MAPDSDPFPEGPLLKLLPLDARDRGTQRCRLGPAALHALGARLG
                     SAVKISLPDGGSCLCTAWPRRDGADGFVQLDPLCASPGAAVGASRSRRSLSLNRLLLV
                     PCPPLRRVAVWPVLRERAGAPGARNTAAVLEAAQELLRNRPISLGHVVVAPPGAPGLV
                     AALHIVGGTPSPDPAGLVTPRTRVSLGGEPPSEAQPQPEVPLGGLSEAADSLRELLRL
                     PLRYPRALTALGLAVPRGVLLAGPPGVGKTQLVRAVAREAGAELLAVSAPALQGSRPG
                     ETEENVRRVFQRARELASRGPSLLFLDEMDALCPQRGSRAPESRVVAQVLTLLDGASG
                     DREVVVVGATNRPDALDPALRRPGRFDREVVIGTPTLKQRKEILQVITSKMPISSHVD
                     LGLLAEMTVGYVGADLTALCREAAMHALLHSEKNQDNPVIDEIDFLEAFKNIQPSSFR
                     SVIGLMDIKPVDWEEIGGLEDVKLKLKQSIEWPLKFPWEFVRMGLTQPKGVLLYGPPG
                     CAKTTLVRALATSCHCSFVSVSGADLFSPFVGDSEKVLSQIFRQARASTPAILFLDEI
                     DSILGARSASKTGCDVQERVLSVLLNELDGVGLKTIERRGSKSSQQEFQEVFNRSVMI
                     IAATNRPDVLDTALLRPGRLDKIIYIPPPDHKGRLSILKVCTKTMPIGPDVSLENLAA
                     ETCFFSGADLRNLCTEAALLALQENGLDATTVKQEHFLKSLKTVKPSLSCKDLALYEN
                     LFKKEGFSNVEGI"
     exon            1184..1369
                     /gene="AFG2B"
                     /gene_synonym="DFNB119; NEDHLS; SPATA5L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1370..1528
                     /gene="AFG2B"
                     /gene_synonym="DFNB119; NEDHLS; SPATA5L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1529..1738
                     /gene="AFG2B"
                     /gene_synonym="DFNB119; NEDHLS; SPATA5L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1739..1931
                     /gene="AFG2B"
                     /gene_synonym="DFNB119; NEDHLS; SPATA5L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1932..2062
                     /gene="AFG2B"
                     /gene_synonym="DFNB119; NEDHLS; SPATA5L1"
                     /inference="alignment:Splign:2.1.0"
     exon            2063..2188
                     /gene="AFG2B"
                     /gene_synonym="DFNB119; NEDHLS; SPATA5L1"
                     /inference="alignment:Splign:2.1.0"
     exon            2189..2561
                     /gene="AFG2B"
                     /gene_synonym="DFNB119; NEDHLS; SPATA5L1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2539..2544
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AFG2B"
                     /gene_synonym="DFNB119; NEDHLS; SPATA5L1"
                     /note="hexamer: AATAAA"
     polyA_site      2561
                     /gene="AFG2B"
                     /gene_synonym="DFNB119; NEDHLS; SPATA5L1"
                     /note="major polyA site"
ORIGIN      
        1 aatctgcttc cggcctgcga gctcggtgtt ccgctttttg tgggccgggt gggtttccta
       61 atctggtttc gtctgcctgg ttcatctgtg tgcgatggct ccggactcgg atcccttccc
      121 tgaagggccg ctcttaaagc tgctaccctt agacgctaga gaccggggca cccagcgctg
      181 ccgcctgggc ccggccgccc tccacgccct gggcgcgcgc ttgggctcgg cagtgaagat
      241 ctcgctaccc gacggcggct cctgcctctg cactgcctgg cctcggcggg acggagcgga
      301 cggctttgtg cagctggacc cgctgtgcgc gagccccggg gcggcggtcg gggcgtcgag
      361 atcccggagg agtctcagcc tgaatcgcct cctcctagtg ccctgtccgc ccctgcggcg
      421 cgtcgccgtg tggccggtgt tgcgagagcg ggcaggcgcg cccggtgccc ggaatacagc
      481 cgcggtgctg gaggcggcac aggagctgct gagaaaccga ccgatctccc tgggccacgt
      541 ggtggtcgct ccgccaggcg ctcctggcct ggtggctgcc ttgcacatcg tcggcgggac
      601 gcccagtccc gatcccgctg ggctggtcac ccctcgtacc cgcgtcagcc ttggcgggga
      661 gcctccgtcg gaagcccagc cgcagcccga ggtgcccctg ggaggtcttt cggaggcggc
      721 cgactcgctg cgggagctcc tccgcctccc gctccgctac ccgcgcgccc tgaccgcgct
      781 gggcttagcg gtgcctcgcg gggtgctcct ggcggggccc cccggagtgg gcaagaccca
      841 gctggtgcgg gccgtggcgc gcgaggcggg cgcggagctg ctggcagtca gcgccccggc
      901 gctgcagggt tcccggcctg gggagaccga ggagaacgtg cggcgggtct tccagcgcgc
      961 ccgggaactg gccagccgcg gacccagcct cctcttcctg gacgagatgg acgccttgtg
     1021 tccccagcgg ggcagtcgag cacccgagag ccgcgtagtg gcccaggtgt tgacgctgct
     1081 ggacggcgcc agtggggacc gcgaggtcgt ggttgtggga gccactaacc ggccggacgc
     1141 tctagaccca gcgctgcgta ggcccgggag atttgaccga gaggtggtca ttgggactcc
     1201 cacacttaaa caaagaaagg aaattctgca agtgattacc tcgaagatgc ccatctccag
     1261 tcatgttgat ttgggccttc ttgcagaaat gacagttggc tatgttggtg ccgacctgac
     1321 agcactctgt agggaggctg ccatgcatgc cctccttcat agtgagaaga accaggacaa
     1381 tcctgtgatt gatgaaatag acttccttga agcttttaaa aatattcagc cctcatcgtt
     1441 tcgaagcgtc attggattaa tggatatcaa gcctgttgac tgggaggaga ttggtggcct
     1501 tgaagatgta aaactgaagt taaaacagag cattgagtgg cctctgaaat tcccttggga
     1561 atttgttaga atgggcctga cacaaccaaa gggagttctc ctctatgggc cccctggatg
     1621 tgctaaaacc actctggtga gggccctggc cacaagctgt cactgctctt tcgtttcagt
     1681 gagtggagct gatctgtttt caccgtttgt tggagattca gaaaaagtgt tgtctcagat
     1741 atttcgacaa gcaagagcaa gcactccagc aattttgttt ttggatgaaa ttgattcaat
     1801 cttgggagct cgctcagcca gcaagacagg atgtgatgtt caagaacgag ttctttctgt
     1861 tctcctgaat gaattagatg gtgttggact taagacaata gagagaagag gaagtaaatc
     1921 aagtcaacag gagtttcaag aagtttttaa ccgaagtgtc atgattattg cagcaacaaa
     1981 tagacctgat gtgttagata ctgctttgtt acgacctgga agattagata agatcatcta
     2041 tatcccacct ccagatcaca agggcaggct ttctatttta aaagtctgta caaaaaccat
     2101 gccaataggg cctgatgtct ccttagaaaa cctcgcagca gaaacctgtt ttttttctgg
     2161 agctgatctt agaaacctct gcacagaagc tgctttgctg gctctgcaag aaaatggact
     2221 agacgcaact acagtgaaac aagagcactt tctaaaatca cttaagactg taaaaccgtc
     2281 gttaagttgc aaggacttgg ctttatatga aaacttattt aagaaagaag gattttctaa
     2341 cgtggaaggt atttaaaaat caccttaaac tcttgttcag ttcacattaa ttgaaatgtg
     2401 aacttgcctg tcgtttgcaa cttcacactt ttagaatttg tgtttatatt tcctgtaagt
     2461 gaataaataa aacaaaacaa aacaaaaaaa acttgtgcct gataagctaa ggctcattta
     2521 tttttaaaag gcatattaaa taaaatactg taatttagga a
//
