LOCUS       NM_032448               5155 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens family with sequence similarity 120 member B
            (FAM120B), transcript variant 3, mRNA.
ACCESSION   NM_032448
VERSION     NM_032448.3
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 5155)
  AUTHORS   Liu,Z., Gao,X., Zhou,Z., Kang,S.W., Yang,Y., Liu,H., Zhang,C.,
            Wen,Z., Rao,X., Wang,D., White,D. 3rd, Yang,Q. and Long,Q.
  TITLE     San1 deficiency leads to cardiomyopathy due to excessive
            R-loop-associated DNA damage and cardiomyocyte hypoplasia
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1867 (11), 166237 (2021)
   PUBMED   34339838
  REMARK    GeneRIF: San1 deficiency leads to cardiomyopathy due to excessive
            R-loop-associated DNA damage and cardiomyocyte hypoplasia.
REFERENCE   2  (bases 1 to 5155)
  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   3  (bases 1 to 5155)
  AUTHORS   Andrews,A.M., McCartney,H.J., Errington,T.M., D'Andrea,A.D. and
            Macara,I.G.
  TITLE     A senataxin-associated exonuclease SAN1 is required for resistance
            to DNA interstrand cross-links
  JOURNAL   Nat Commun 9 (1), 2592 (2018)
   PUBMED   29968717
  REMARK    GeneRIF: Study report a previously uncharacterized protein, SAN1,
            the Fam120b gene product, as a 5' exonuclease that acts
            independently of the Fanconi anemia pathway in response to
            inter-strand DNA cross-links (ICLs). Deletion of SAN1 in HeLa cells
            and mouse embryonic fibroblasts causes sensitivity to ICLs. SAN1
            binds to senataxin (SETX). SAN1-SETX binding is increased by ICLs
            and is required to prevent cross-link sensitivity.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5155)
  AUTHORS   Bradfield,J.P., Qu,H.Q., Wang,K., Zhang,H., Sleiman,P.M., Kim,C.E.,
            Mentch,F.D., Qiu,H., Glessner,J.T., Thomas,K.A., Frackelton,E.C.,
            Chiavacci,R.M., Imielinski,M., Monos,D.S., Pandey,R., Bakay,M.,
            Grant,S.F., Polychronakos,C. and Hakonarson,H.
  TITLE     A genome-wide meta-analysis of six type 1 diabetes cohorts
            identifies multiple associated loci
  JOURNAL   PLoS Genet 7 (9), e1002293 (2011)
   PUBMED   21980299
REFERENCE   5  (bases 1 to 5155)
  AUTHORS   Li,D., Kang,Q. and Wang,D.M.
  TITLE     Constitutive coactivator of peroxisome proliferator-activated
            receptor (PPARgamma), a novel coactivator of PPARgamma that
            promotes adipogenesis
  JOURNAL   Mol Endocrinol 21 (10), 2320-2333 (2007)
   PUBMED   17595322
REFERENCE   6  (bases 1 to 5155)
  AUTHORS   Holden,S. and Raymond,F.L.
  TITLE     The human gene CXorf17 encodes a member of a novel family of
            putative transmembrane proteins: cDNA cloning and characterization
            of CXorf17 and its mouse ortholog orf34
  JOURNAL   Gene 318, 149-161 (2003)
   PUBMED   14585507
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DQ873695.1, AK299890.1, AL008628.1 and AJ420589.1.
            
            On Feb 27, 2020 this sequence version replaced NM_032448.2.
            
            Transcript Variant: This variant (3) contains an alternate 5' exon
            and it thus differs in its 5' UTR and initiates translation at a
            downstream in-frame start codon, compared to variant 1. The encoded
            isoform (c) is shorter at the N-terminus, compared to isoform a.
            
            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 :: SRR14038195.936290.1,
                                           SRR11853560.25564.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000476287.4/ ENSP00000417970.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1278              DQ873695.1         38-1315
            1279-2247           AK299890.1         1327-2295
            2248-3166           DQ873695.1         2285-3203
            3167-4112           AL008628.1         129198-130143       c
            4113-5155           AJ420589.1         476-1518
FEATURES             Location/Qualifiers
     source          1..5155
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q27"
     gene            1..5155
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
                     /note="family with sequence similarity 120 member B"
                     /db_xref="GeneID:84498"
                     /db_xref="HGNC:HGNC:21109"
                     /db_xref="MIM:612266"
     exon            1..85
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            86..1840
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
                     /inference="alignment:Splign:2.1.0"
     CDS             107..2839
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
                     /note="isoform c is encoded by transcript variant 3;
                     constitutive coactivator of peroxisome
                     proliferator-activated receptor gamma; PPARgamma
                     constitutive coactivator 1; PPARG constitutive coactivator
                     1; senataxin-associated nuclease 1; constitutive
                     coactivator of PPAR-gamma; family with sequence similarity
                     120B"
                     /codon_start=1
                     /product="constitutive coactivator of peroxisome
                     proliferator-activated receptor gamma isoform c"
                     /protein_id="NP_115824.1"
                     /db_xref="CCDS:CCDS5314.1"
                     /db_xref="GeneID:84498"
                     /db_xref="HGNC:HGNC:21109"
                     /db_xref="MIM:612266"
                     /translation="MGVRGLQGFVGSTCPHICTVVNFKELAEHHRSKYPGCTPTIVVD
                     AMCCLRYWYTPESWICGGQWREYFSALRDFVKTFTAAGIKLIFFFDGMVEQDKRDEWV
                     KRRLKNNREISRIFHYIKSHKEQPGRNMFFIPSGLAVFTRFALKTLGQETLCSLQEAD
                     YEVASYGLQHNCLGILGEDTDYLIYDTCPYFSISELCLESLDTVMLCREKLCESLGLC
                     VADLPLLACLLGNDIIPEGMFESFRYKCLSSYTSVKENFDKKGNIILAVSDHISKVLY
                     LYQGEKKLEEILPLGPNKALFYKGMASYLLPGQKSPWFFQKPKGVITLDKQVISTSSD
                     AESREEVPMCSDAESRQEVPMCTGPESRREVPVYTDSEPRQEVPMCSDPEPRQEVPTC
                     TGPESRREVPMCSDPEPRQEVPMCTGPEARQEVPMYTDSEPRQEVPMYTDSEPRQEVP
                     MYTGSEPRQEVPMYTGPESRQEVPMYTGPESRQEVLIRTDPESRQEIMCTGHESKQEV
                     PICTDPISKQEDSMCTHAEINQKLPVATDFEFKLEALMCTNPEIKQEDPTNVGPEVKQ
                     QVTMVSDTEILKVARTHHVQAESYLVYNIMSSGEIECSNTLEDELDQALPSQAFIYRP
                     IRQRVYSLLLEDCQDVTSTCLAVKEWFVYPGNPLRHPDLVRPLQMTIPGGTPSLKILW
                     LNQEPEIQVRRLDTLLACFNLSSSREELQAVESPFQALCCLLIYLFVQVDTLCLEDLH
                     AFIAQALCLQGKSTSQLVNLQPDYINPRAVQLGSLLVRGLTTLVLVNSACGFPWKTSD
                     FMPWNVFDGKLFHQKYLQSEKGYAVEVLLEQNRSRLTKFHNLKAVVCKACMKENRRIT
                     GRAHWGSHHAGRWGRQGSSYHRTGSGYSRSSQGQPWRDQGPGSRQYEHDQWRRY"
     exon            1841..2021
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            2022..2123
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            2124..2296
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            2297..2389
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            2390..2596
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            2597..2705
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            2706..2798
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            2799..2850
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
                     /inference="alignment:Splign:2.1.0"
     exon            2851..5155
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3146..3151
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
                     /note="hexamer: AATAAA"
     polyA_site      3166
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
                     /note="major polyA site"
     regulatory      4874..4879
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
                     /note="hexamer: AATAAA"
     polyA_site      4901
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
     regulatory      5132..5137
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
                     /note="hexamer: AATATA"
     polyA_site      5155
                     /gene="FAM120B"
                     /gene_synonym="CCPG; dJ894D12.1; KIAA1838; PGCC1; SAN1"
ORIGIN      
        1 gaacgaggcg gctgtggcgg tggctgaggc ggctgggcct agggtgcagc gggcgcgtct
       61 gcggctggtg ttggcgcatc tctagatcct ttcccggagt tcagttatgg gtgtgagagg
      121 tttgcaagga tttgtgggaa gtacctgccc acatatatgt acagtagtaa atttcaaaga
      181 actggcagag caccaccgaa gcaagtatcc tggatgtacc cctaccattg tggttgatgc
      241 catgtgttgt ctcagatatt ggtatactcc agaatcttgg atctgcggtg gccagtggcg
      301 agaatacttt tctgctttgc gagattttgt taaaactttt acggcagctg ggatcaagtt
      361 gatattcttc tttgatggca tggtggagca ggataagaga gatgaatggg tgaaacgaag
      421 gctcaagaac aacagggaga tatccaggat ttttcattac atcaagtcac acaaggagca
      481 gccaggcaga aatatgttct tcatcccctc agggctagct gtgtttacac gatttgctct
      541 aaagacactg ggccaggaaa ctttgtgttc tttgcaggaa gcagattatg aggtagcttc
      601 ctatggcctc cagcataact gtcttgggat tctgggggaa gacactgatt acctaatcta
      661 tgacacttgt ccctactttt caattagcga gctctgccta gagagcctgg acaccgtcat
      721 gctctgcaga gagaagctct gtgagagtct gggcctctgt gtggccgacc ttcctcttct
      781 ggcctgcctc cttggcaacg acataatccc agagggcatg tttgaaagct ttaggtacaa
      841 atgcttatcg tcctacacct ctgtaaaaga gaactttgac aaaaaaggta acatcatatt
      901 agctgtgtca gaccatatat cgaaagttct ttacttgtat caaggtgaga aaaaattaga
      961 agagatatta cctctgggac caaacaaagc tcttttttat aaaggaatgg catcatatct
     1021 tttaccagga caaaaatctc catggttttt ccaaaaaccc aaaggtgtaa taactttgga
     1081 caaacaagta atatccacga gttcagacgc cgaatccagg gaagaagttc ccatgtgttc
     1141 agatgctgaa tccaggcaag aagttcccat gtgtacaggc cctgaatcca ggcgagaagt
     1201 tcccgtgtat acagattctg aacccaggca agaagttccc atgtgttcag accctgaacc
     1261 caggcaagaa gttcccacgt gtacaggccc tgaatccagg cgagaagttc ccatgtgttc
     1321 agaccctgaa cccaggcaag aagttcccat gtgtacaggc cctgaagcca ggcaagaagt
     1381 tcccatgtat acagactctg aacccaggca agaagttccc atgtatacag actctgaacc
     1441 caggcaagaa gttcccatgt atacaggctc tgaacccagg caagaagttc ccatgtatac
     1501 aggccctgaa tccaggcaag aagttcccat gtatacaggc cctgaatcca ggcaagaagt
     1561 tttaatacgg acagaccctg aatctaggca agaaattatg tgtacaggcc atgaatccaa
     1621 acaggaagtt cccatatgta cagatcctat atccaagcaa gaagactcca tgtgtacaca
     1681 cgctgaaatc aatcaaaaat tacctgtagc aacagatttt gaatttaagc tagaagctct
     1741 catgtgtaca aaccctgaaa ttaaacaaga agaccccaca aatgtggggc ctgaagtaaa
     1801 gcaacaagta accatggttt cagacactga aatcttaaag gttgctagaa cacatcacgt
     1861 ccaagcagaa agctacctgg tgtacaacat catgagcagt ggagagattg aatgcagcaa
     1921 caccctagaa gatgagcttg accaggcctt acccagccag gccttcattt accgtcccat
     1981 tcgacagcgg gtctactcac tcttactgga ggactgtcaa gatgtcacca gcacctgcct
     2041 agctgtcaag gagtggtttg tgtatcctgg gaacccactg aggcacccgg acctcgtcag
     2101 gccgctgcag atgaccattc cagggggaac gcctagtttg aaaatattat ggctgaacca
     2161 agagccagaa atacaggttc ggcgcttgga cacactccta gcctgtttca atctttcctc
     2221 ctcaagagaa gagctgcagg ctgtcgaaag cccatttcaa gctttgtgct gcctcttgat
     2281 ctacctcttt gtccaggtgg acacgctttg cctggaggat ttgcatgcgt ttattgcgca
     2341 ggccttgtgc ctccaaggaa aatccacctc gcagcttgta aatctacagc ctgattacat
     2401 caaccccaga gccgtgcagc tgggctccct tctcgtccgc ggcctcacca ctctggtttt
     2461 agtcaacagc gcatgtggct tcccctggaa gacgagtgat ttcatgccct ggaatgtatt
     2521 tgacgggaag ctttttcatc agaagtactt gcaatctgaa aagggttatg ctgtggaggt
     2581 tcttttagaa caaaatagat ctcggctcac caaattccac aacctgaagg cagtcgtctg
     2641 caaggcctgc atgaaggaga acagacgcat cactggccga gcccactggg gctcacacca
     2701 cgcagggagg tggggaagac agggctccag ctaccacagg acgggctctg ggtatagccg
     2761 ttccagtcag ggacagccgt ggagagacca gggaccagga agcagacagt atgagcatga
     2821 ccagtggaga aggtactagt caacctccag aaagagtatg gagagaaaaa gaggcacacc
     2881 tggacgcaga gccctgccag cgccctcctc tgctgttgca gctgcaagga gaccatgcct
     2941 gtgggagcca ggcctcgctt gcatgaagaa ggaacgatgc ctttttcaat ggtgtctccc
     3001 tcccattgtg cagaagagct tttgttggct tctctcccga gcttgtgcct gattctgtgg
     3061 cccaaaacaa tcattgttaa catcttcatg tgtttcattc tgatctttca ttcatatata
     3121 tgatgcctag ctaatttcat tttaaaataa atgggaatct gttgtattct gattttttat
     3181 tagcaacact agattatgag gggttatctc ctgttattaa aaagtcagaa aacactatac
     3241 agtagtcctc ccttatctgc gggggagaca tcccaagacc ctcagtggat gcctgagact
     3301 ggatagtatg gaatcctaca tatctatacc ttggcttttt cctctacgta cataccatga
     3361 taaagcttaa caaagaacag tgagagatta acagcaacca ataactaata aaagctatgt
     3421 gaatgtggtc tctgtcaaaa tatcgtgctg taatcaccct tcttgctatc tgaaaaccaa
     3481 gaagaccact aagtgactaa tggtcagaga agctggatga ggggctgatt catgtcctgg
     3541 gcatgacaga gcgggaggca caaggtttca tcacactatt cacaatggcg agcaagttaa
     3601 aacggatttc ccatttaatt taattttcag acttcagttg accatgagta accgaaacca
     3661 cagaaagtga agctggggat atttcagaaa ttcttttcta atcagaaatt ctaatcaaac
     3721 ataagtttcc aactatgtgt tctcttggtc ctcagaagtg tttgaataga aaagtaacaa
     3781 ctaacttccc atctttctgg tggaagagtt aattctgcct ggagggttct gcctgggaga
     3841 catgacagca tgtgtgtgac tcctgtgtct gtttctgtgg ggtcatccct ttcgtttcat
     3901 tttgccaggg cctggctcag gattttttat ggcagtgcct gtgaagacaa gcctggccct
     3961 ccatccagtc acacaggaaa tccacagaga gcatgctgag agcagccagc ggctgggctg
     4021 ccatcaggcc tggtttatga tgccacaagt gaatggcacg tttgttcctc tttatctctg
     4081 agcattgaag gacttttggt taaaaaaaaa aattaagttc agagtaatcc ttttcatgga
     4141 agaatcttca ggtcaccaaa gaattgaaat tttaagcccc agattgtact gagctgtacc
     4201 tgtgggaaaa ggaatggcca gggtattgat gatggaaaag attcaaatga ggagttagaa
     4261 ggcaagccct ctgtgggcag ccgtcttcca gaaacctcga acttatgtct gtctccacct
     4321 gagaaaggag aagaaaagct ggtggtgacc cctgctcctg ctgggccatg ccatggctct
     4381 gaagatgccc cgtgttctta ggaggtgctc acccctggca cctaaagaca tttccttctg
     4441 gttgttgctc tttaaaaaca aaataagccc ctgaacgtgc ttgcaggcca gtttgtgtgc
     4501 ctgcacttga cgaattacct tgaccaacgg gccaaaggca cagagctcca aggcatcatc
     4561 tttccttaaa atcctgagtg tttattaaaa agggacatgg tctctaggta tcttattaca
     4621 tttgtatttc ttacatttga aatatcctaa ccgctccctt cggtttcttc ttaagaacat
     4681 ttacatctaa ttatttttcg tgcaagtctt gtaggaccca catgttttcc tagctttgga
     4741 aatcgatttt tttcattcct cttatgagga tttccctatg tcagtaaaca ttaactttct
     4801 atttcttcca tttttgctca tttgaaaccc ctgctgcttc tagatctatt tctttgcact
     4861 tgtataactt tgaaataaat tcctcatccc ttagactaag agagtgggtg tctgtgaaaa
     4921 ttgttttctc cttcataata cctaaattct agtttgtcag taaaatattt gtgtttggtt
     4981 aacaagctct tatttaagcc attgagttag tataatcttt attacctttg aaaaaccaga
     5041 gagctgaatt ttttgtcatt ctaagttgta agtaacactg cagtcaagtc ttctgatgaa
     5101 atttccatat atcaaattga aaataaagca aaatatattt attactcata actaa
//
