LOCUS       NM_001024680            5699 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens F-box protein 48 (FBXO48), transcript variant 1, mRNA.
ACCESSION   NM_001024680
VERSION     NM_001024680.3
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 5699)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 5699)
  AUTHORS   Xiu,X., Song,Z., Gao,K., Deng,X., Qi,Y., Zhu,A., Gong,L. and
            Deng,H.
  TITLE     Genetic analysis of the FBXO48 gene in Chinese Han patients with
            Parkinson disease
  JOURNAL   Neurosci Lett 541, 224-226 (2013)
   PUBMED   23485738
  REMARK    GeneRIF: mutations in the coding region of the FBXO48 gene play
            little or no role in the development of Parkinson diseases.
REFERENCE   3  (bases 1 to 5699)
  AUTHORS   Patsopoulos,N.A., Esposito,F., Reischl,J., Lehr,S., Bauer,D.,
            Heubach,J., Sandbrink,R., Pohl,C., Edan,G., Kappos,L., Miller,D.,
            Montalban,J., Polman,C.H., Freedman,M.S., Hartung,H.P.,
            Arnason,B.G., Comi,G., Cook,S., Filippi,M., Goodin,D.S.,
            Jeffery,D., O'Connor,P., Ebers,G.C., Langdon,D., Reder,A.T.,
            Traboulsee,A., Zipp,F., Schimrigk,S., Hillert,J., Bahlo,M.,
            Booth,D.R., Broadley,S., Brown,M.A., Browning,B.L., Browning,S.R.,
            Butzkueven,H., Carroll,W.M., Chapman,C., Foote,S.J., Griffiths,L.,
            Kermode,A.G., Kilpatrick,T.J., Lechner-Scott,J., Marriott,M.,
            Mason,D., Moscato,P., Heard,R.N., Pender,M.P., Perreau,V.M.,
            Perera,D., Rubio,J.P., Scott,R.J., Slee,M., Stankovich,J.,
            Stewart,G.J., Taylor,B.V., Tubridy,N., Willoughby,E., Wiley,J.,
            Matthews,P., Boneschi,F.M., Compston,A., Haines,J., Hauser,S.L.,
            McCauley,J., Ivinson,A., Oksenberg,J.R., Pericak-Vance,M.,
            Sawcer,S.J., De Jager,P.L., Hafler,D.A. and de Bakker,P.I.
  CONSRTM   Bayer Pharma MS Genetics Working Group; Steering Committees of
            Studies Evaluating IFNbeta-1b and a CCR1-Antagonist; ANZgene
            Consortium; GeneMSA; International Multiple Sclerosis Genetics
            Consortium
  TITLE     Genome-wide meta-analysis identifies novel multiple sclerosis
            susceptibility loci
  JOURNAL   Ann Neurol 70 (6), 897-912 (2011)
   PUBMED   22190364
  REMARK    Erratum:[Ann Neurol. 2013 Apr;73(4):561]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG435927.1, DQ904332.1, DB303415.1 and AC127383.4.
            
            On Nov 23, 2018 this sequence version replaced NM_001024680.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.774747.1, BC089423.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377957.4/ ENSP00000367193.2
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-36                BG435927.1         25-60
            37-915              DQ904332.1         1-879
            916-916             DB303415.1         276-276             c
            917-2755            DQ904332.1         881-2719
            2756-5699           AC127383.4         61079-64022         c
FEATURES             Location/Qualifiers
     source          1..5699
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     gene            1..5699
                     /gene="FBXO48"
                     /note="F-box protein 48"
                     /db_xref="GeneID:554251"
                     /db_xref="HGNC:HGNC:33857"
                     /db_xref="MIM:620549"
     exon            1..84
                     /gene="FBXO48"
                     /inference="alignment:Splign:2.1.0"
     exon            85..411
                     /gene="FBXO48"
                     /inference="alignment:Splign:2.1.0"
     exon            412..750
                     /gene="FBXO48"
                     /inference="alignment:Splign:2.1.0"
     CDS             445..912
                     /gene="FBXO48"
                     /codon_start=1
                     /product="F-box only protein 48"
                     /protein_id="NP_001019851.1"
                     /db_xref="CCDS:CCDS33213.1"
                     /db_xref="GeneID:554251"
                     /db_xref="HGNC:HGNC:33857"
                     /db_xref="MIM:620549"
                     /translation="MHKNSKRNNNLRVSHTEANSVDAEKEKNESQNNFFELLPAEITF
                     KIFSQLDIRSLCRASLTCRSWNDTIRNSDSLWKPHCMTVRAVCRREIDDDLESGYSWR
                     VILLRNYQKSKVKHEWLSGRYSNICSPISLPEKIMYPMDADTWGEILEAELER"
     exon            751..5699
                     /gene="FBXO48"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5678..5683
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBXO48"
                     /note="hexamer: AATAAA"
     polyA_site      5699
                     /gene="FBXO48"
                     /note="major polyA site"
ORIGIN      
        1 aggtgggcgg gatgcgaaga gctatgggga aggattcgaa ttccggtgga tttaaatcgc
       61 gggaggagaa gctaccgcgg cctaaagacc tctgttgaac acagactgca gttccagcca
      121 ccacagctaa tctggatcat gaatgggagc caccgtggtc ttggcaagtc cgaaaacata
      181 gctgagtagc tcgtctagaa aagagatttg tgttcagctg agttaaaaga agtatttacc
      241 tcaaacctct cctcttgcac aaccaacccc cgttataaaa ggaagtgcaa aatggaataa
      301 actgatttta agtgaataca agctgtcttt atatacaaaa gtaactcaag gatggtgatg
      361 tacccagtca tgctttcaac tgatttggga agcctacacc attcacctta ggttacatat
      421 gaggataact taaaacatta agctatgcat aaaaactcca agagaaacaa taatttaaga
      481 gtttctcaca cagaagcgaa ctctgtggat gctgagaagg aaaaaaatga gagtcaaaac
      541 aacttttttg aactgctgcc tgcagaaatc acttttaaaa ttttcagtca gctggacatt
      601 cggagtctgt gcagggcttc attgacatgc aggagctgga atgacacaat aagaaacagt
      661 gactctttat ggaaacctca ctgcatgact gtaagagctg tgtgccgaag agaaatagat
      721 gatgatctag aaagtggtta ttcctggagg gtgatactgc tgaggaatta ccagaagagt
      781 aaagtgaaac acgaatggct aagtggcaga tacagcaaca tttgttctcc cattagccta
      841 ccagaaaaaa tcatgtaccc aatggatgca gatacatggg gggaaattct agaagcagaa
      901 ctggaaagat aaggggaaaa aaaatcacaa atctcaggtc tttgaaagtt taaaacttaa
      961 atgactctta ggttgcaaaa gcgatatctt tattcgttca ttttgttgtt caccttttta
     1021 aaagaaaatg aaatggaact attataaaag taaagcttta tttttgtttt gcactttagt
     1081 aaaatttttc tggttttatt gtaatgtgga aaaatcatga aatgttattt ttataagaaa
     1141 taatatactg atagagtgat ttccaaatac aatgtttcat gtatttgtgt taatatattt
     1201 gcaatactaa atgtaagagt gatttgtatg ttcagcttaa tgataattca aaatttcagg
     1261 aagccacttt aaactgactt aaagattcat taagtggtgg ttataactag gctcatggga
     1321 agactagcta agtgaaatta atagcaatac atttaaatta atacattgac attttaatga
     1381 ctttaacatt tctatttcag tggaatcaga ttgaaatgtc aaatagtgaa actattttta
     1441 atgtgttaag cctgtggttt agttttaagt taatgtcatc tcagggctaa agtttgtcca
     1501 attgagattc ccattaattt tatataaacc tggaacggct ctcaggagct gaaagtaagt
     1561 ggaaagtttc cagaacactt taccatcaga atgccacact agcctggtaa aactctcttt
     1621 ctgacagcct tatagcacca tctagtgtgc tattcttaga tagcaagaca aaggactttc
     1681 agctcctttt tgttttctcc atattaaaaa gaaaactgtt attctaaaga atccttaaca
     1741 cttgtctttg ttaaagttta taacttttta ggaaccttta ttttaacttt taaaaacttt
     1801 tgtttctctt ttttcataaa aacagattat atgctactca ctataacaaa ttgtttattc
     1861 tgaatctgtg gttaccacca tagtaaaaaa gtgtctacaa actgctttag ttagtgtggg
     1921 gttttcttct taaaaactgt tctctatagc attaaatata agaatccagg aaaccaatat
     1981 ttaacaaata ggcaaatatt agaaagatgc cccactatat gcaaattctg tatgttgaat
     2041 caagcagtag ataattaatt gtctcctact atcttcttag agttggaaga gtccttgaaa
     2101 atcaggcagt caagtgtcca ggactattca gtaattttct caataggaac actgtcagtc
     2161 agccagccca agctgaaatc ctgtacttct actaatagca tctctgttat gtcacagaac
     2221 agtccagttg tagtctaggc ttgcactgaa gaccacctct ctgtaacgtt tgccttctag
     2281 ccccacttcc accctctaga accaggctga ttcagtcctt cctgtctatg attgccagat
     2341 atttgaagac tgatagcctg tctcttccta tgtcttctct ccaattccac tgatgatcat
     2401 agagtataat ttctagaccc aacaacattc tcttctgccc atttactctt aacaaaagaa
     2461 aggggctgtg cgccatggct cacgcctgta atcccagcac tttgggagac caaggtgggt
     2521 ggatcacctc aggtcagaag ttcaagacca gcctggtcaa catggtgaaa ccctgtctct
     2581 actaaatata caaaaattag ccgggcgtgg tggcaggtgc ctgtaatccc agctacttgg
     2641 gaggctgagg caggagaatc gcttaaacct ggcaggcaga ggttgcagtg agcagagatc
     2701 acgccactgc gctccagcct gggcaacaag agtgaaactt cgtctcaaaa aaaaaggaag
     2761 aaagaaaggt atcctactaa ttttatttca taaaagataa gaaagcactt ggaaattttc
     2821 aaagtatggg aaaaattaaa gctataagca ttttgctgaa tagcatctgt gtacaatagt
     2881 aaatgtacac atatattttt agctgttttt ttgtaatgga tgtttattat ttttgtccag
     2941 cccccttaca atctatcatc atcatctgtt aatagaagtt atcctaatta gggagactca
     3001 cccttctcac ttccaaccaa gtgtgtggtt ttttttggcc ggggtggggg gcagtttttt
     3061 gtttttgttt ttttgttttg ttttttgaga tgaagtctca ctctgtcacc caggctggag
     3121 tgcagtggca tgatcttggc ccactgcaac ctccacctcc caggttcaag caactctctg
     3181 tgtcagcctc ccgagcagcc aggattatag gcgcccgcca ccatgcccag ctaatttttg
     3241 tatttttagt agaaacgggg tttcaccatc ttggcctcct gaccttgtga tctacctgcc
     3301 tcagcctcct aaagtgctgg gattataggc atgagccacc gcacccagct gggttttttg
     3361 ttttcttgtt tttttttttt tacattatcc tgtttttccc agcctccgtg tttagtccaa
     3421 ggatggaaac atgacccaat cccccctttt cataagttgg aagaaagaag ccctttcctc
     3481 tttgctgatg aaactgttcc ctgccacaca aagaaaacgg atcttggccg ggcgcggtgg
     3541 ctcacgcctg taatcccagc actttgggag gccgaggcgg gtggatcatg aggtcaggag
     3601 atcgagacca tcctggctaa caaggtgaaa ccccgtctct actaaaaata caaaaaatta
     3661 gccgggcgcg gtggcgggcg cctgtagtcc cagctactcg ggaggctgag gcaggagaat
     3721 ggcgtgaacc cgggaggcgg agcttgcagt gagccgagat tgcgccactg cagtccgcag
     3781 tccggcctgg gcgacagagc gagactccgt ctcaaaaaaa aaaaaaaaaa aaagaaaacg
     3841 aaaacggatc ttaagtaaga gaatgtggag ccaccagggg aaagaacaat tgcagggaaa
     3901 gaggcctgat tatattccag accctggtcc cagccattcc ttatctgctt acctaaatta
     3961 attcaaattg agtttcacca tcatactggg acccccacct gatgtggttt cgttgcccat
     4021 ttttcaaata tgtattattt gtggcttaca ttaacatctt agatttcact ctgacttcct
     4081 caccagtcag tcttaatctg ctataatatg gccatcactc catatggttg aaactgttgg
     4141 tatccaaatt acaagtgact taatgtctaa atccactgga tgcattctac ttgttaatat
     4201 atttgacaca cataaacact cacactgaca cacataagta cttcttaaaa ctctctcctc
     4261 catgggttgg aactatagtc tcttggactt ttctttccct actctaaccc gtcttctcag
     4321 tttcctccaa agactcgctt tccttcacct actcattaca tgttagtgtt cccccaaagt
     4381 tccacctgtt gtcatctcgt ctctatactc taacatcctt ggtgatccca tctacaactc
     4441 ctatgtcagc taccattgtt ggtgctaatg ccgtctatgt ccgtgtccca acatcagatc
     4501 tccatgagat gttccagaaa tacatatgct attatctttt ggatttttat ccaaagatag
     4561 tataagtata tatatatata tataaaatat ttgatatatc caaagatagt ttatatataa
     4621 gcacctgaat caaaacttac catctcataa aagtagttct tcctccagtt cctatctcag
     4681 tgaatggcat gtcctgttag aaaatcacca tattttactt ttctccatca ttctccaagt
     4741 ccagccgagt caattcttac ttgattttat catccaaata tctaagtaat tcacctcttc
     4801 cccatcttta tctctgcctc attacttaat tcttgtcctt atttgacatt gggatttcta
     4861 aaataacctc ttactggtgt tcctgcctcc agttccttcc ttttactgtt agcagtgtag
     4921 tctttgttaa accccaaatt tagcacgtca ccctaactta aactcctgac tgcatacagg
     4981 tagaaatcaa aattccccac taaagcccat agggccttta atgatgtggt ctggcctacc
     5041 tctccagcct gttctctaac cactgtccca ccctatatct ttctgttcag tcttacaaaa
     5101 ctatttcata aaaattttct cacttctctg cctttgcaca ggctgtttga tatacctgga
     5161 gtaatcccca ccattgattc ttttcttggc aaaaatctat tgtaaaactt atcatcttgg
     5221 cctggaaaca atccataact tctactgttc tggattaagt gactttttag atgttcttgt
     5281 agttctttgt atagacctct ctcaaaactg tcatatgaca ttaaattgtc tattttattt
     5341 gtgtgtttgc ccctttacac tgtgaacttc ttaatggcag ggaccatttt ttatttattt
     5401 ttgtgtcttc aaaacctggc acacactaga tgctctataa agatttgtta aattatttct
     5461 atagttattt attttaatcc tacacagaat gtataaaaat aatttactat attgttagtg
     5521 aagaagattg tatcaaaatg cagtatacaa tccttaaggt atgtgggatg cttgatagta
     5581 atacaaatgt atgaataatt gttccagtct tctccaaacc tgtaagaggg aaataggaaa
     5641 ataaaaatgt tttgttttat tgttttgaac tcttgaaaat aaacttaacc tcaaaaata
//
