LOCUS       NM_020395               1718 bp    mRNA    linear   PRI 18-NOV-2024
DEFINITION  Homo sapiens integrator complex subunit 12 (INTS12), transcript
            variant 1, mRNA.
ACCESSION   NM_020395
VERSION     NM_020395.4
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 1718)
  AUTHORS   Lin,M.H., Jensen,M.K., Elrod,N.D., Chu,H.F., Haseley,M., Beam,A.C.,
            Huang,K.L., Chiang,W., Russell,W.K., Williams,K., Proschel,C.,
            Wagner,E.J. and Tong,L.
  TITLE     Cytoplasmic binding partners of the Integrator endonuclease INTS11
            and its paralog CPSF73 are required for their nuclear function
  JOURNAL   Mol Cell 84 (15), 2900-2917 (2024)
   PUBMED   39032490
REFERENCE   2  (bases 1 to 1718)
  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   3  (bases 1 to 1718)
  AUTHORS   Pfleiderer,M.M. and Galej,W.P.
  TITLE     Structure of the catalytic core of the Integrator complex
  JOURNAL   Mol Cell 81 (6), 1246-1259 (2021)
   PUBMED   33548203
REFERENCE   4  (bases 1 to 1718)
  AUTHORS   Beckedorff,F., Blumenthal,E., daSilva,L.F., Aoi,Y., Cingaram,P.R.,
            Yue,J., Zhang,A., Dokaneheifard,S., Valencia,M.G., Gaidosh,G.,
            Shilatifard,A. and Shiekhattar,R.
  TITLE     The Human Integrator Complex Facilitates Transcriptional Elongation
            by Endonucleolytic Cleavage of Nascent Transcripts
  JOURNAL   Cell Rep 32 (3), 107917 (2020)
   PUBMED   32697989
REFERENCE   5  (bases 1 to 1718)
  AUTHORS   Sabath,K., Staubli,M.L., Marti,S., Leitner,A., Moes,M. and Jonas,S.
  TITLE     INTS10-INTS13-INTS14 form a functional module of Integrator that
            binds nucleic acids and the cleavage module
  JOURNAL   Nat Commun 11 (1), 3422 (2020)
   PUBMED   32647223
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1718)
  AUTHORS   Jodoin,J.N., Sitaram,P., Albrecht,T.R., May,S.B., Shboul,M.,
            Lee,E., Reversade,B., Wagner,E.J. and Lee,L.A.
  TITLE     Nuclear-localized Asunder regulates cytoplasmic dynein localization
            via its role in the integrator complex
  JOURNAL   Mol Biol Cell 24 (18), 2954-2965 (2013)
   PUBMED   23904267
REFERENCE   7  (bases 1 to 1718)
  AUTHORS   Hancock,D.B., Soler Artigas,M., Gharib,S.A., Henry,A.,
            Manichaikul,A., Ramasamy,A., Loth,D.W., Imboden,M., Koch,B.,
            McArdle,W.L., Smith,A.V., Smolonska,J., Sood,A., Tang,W.,
            Wilk,J.B., Zhai,G., Zhao,J.H., Aschard,H., Burkart,K.M.,
            Curjuric,I., Eijgelsheim,M., Elliott,P., Gu,X., Harris,T.B.,
            Janson,C., Homuth,G., Hysi,P.G., Liu,J.Z., Loehr,L.R., Lohman,K.,
            Loos,R.J., Manning,A.K., Marciante,K.D., Obeidat,M., Postma,D.S.,
            Aldrich,M.C., Brusselle,G.G., Chen,T.H., Eiriksdottir,G.,
            Franceschini,N., Heinrich,J., Rotter,J.I., Wijmenga,C.,
            Williams,O.D., Bentley,A.R., Hofman,A., Laurie,C.C., Lumley,T.,
            Morrison,A.C., Joubert,B.R., Rivadeneira,F., Couper,D.J.,
            Kritchevsky,S.B., Liu,Y., Wjst,M., Wain,L.V., Vonk,J.M.,
            Uitterlinden,A.G., Rochat,T., Rich,S.S., Psaty,B.M., O'Connor,G.T.,
            North,K.E., Mirel,D.B., Meibohm,B., Launer,L.J., Khaw,K.T.,
            Hartikainen,A.L., Hammond,C.J., Glaser,S., Marchini,J., Kraft,P.,
            Wareham,N.J., Volzke,H., Stricker,B.H., Spector,T.D.,
            Probst-Hensch,N.M., Jarvis,D., Jarvelin,M.R., Heckbert,S.R.,
            Gudnason,V., Boezen,H.M., Barr,R.G., Cassano,P.A., Strachan,D.P.,
            Fornage,M., Hall,I.P., Dupuis,J., Tobin,M.D. and London,S.J.
  TITLE     Genome-wide joint meta-analysis of SNP and SNP-by-smoking
            interaction identifies novel loci for pulmonary function
  JOURNAL   PLoS Genet 8 (12), e1003098 (2012)
   PUBMED   23284291
REFERENCE   8  (bases 1 to 1718)
  AUTHORS   Kalsi,G., Kuo,P.H., Aliev,F., Alexander,J., McMichael,O.,
            Patterson,D.G., Walsh,D., Zhao,Z., Schuckit,M., Nurnberger,J. Jr.,
            Edenberg,H., Kramer,J., Hesselbrock,V., Tischfield,J.A.,
            Vladimirov,V., Prescott,C.A., Dick,D.M., Kendler,K.S. and
            Riley,B.P.
  TITLE     A systematic gene-based screen of chr4q22-q32 identifies
            association of a novel susceptibility gene, DKK2, with the
            quantitative trait of alcohol dependence symptom counts
  JOURNAL   Hum Mol Genet 19 (12), 2497-2506 (2010)
   PUBMED   20332099
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121. Hesselbrock,
            Victor [added]; Tischfield, Jay A [added]]
REFERENCE   9  (bases 1 to 1718)
  AUTHORS   Hancock,D.B., Eijgelsheim,M., Wilk,J.B., Gharib,S.A., Loehr,L.R.,
            Marciante,K.D., Franceschini,N., van Durme,Y.M., Chen,T.H.,
            Barr,R.G., Schabath,M.B., Couper,D.J., Brusselle,G.G., Psaty,B.M.,
            van Duijn,C.M., Rotter,J.I., Uitterlinden,A.G., Hofman,A.,
            Punjabi,N.M., Rivadeneira,F., Morrison,A.C., Enright,P.L.,
            North,K.E., Heckbert,S.R., Lumley,T., Stricker,B.H., O'Connor,G.T.
            and London,S.J.
  TITLE     Meta-analyses of genome-wide association studies identify multiple
            loci associated with pulmonary function
  JOURNAL   Nat Genet 42 (1), 45-52 (2010)
   PUBMED   20010835
  REMARK    GeneRIF: Meta-analysis and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   10 (bases 1 to 1718)
  AUTHORS   Baillat,D., Hakimi,M.A., Naar,A.M., Shilatifard,A., Cooch,N. and
            Shiekhattar,R.
  TITLE     Integrator, a multiprotein mediator of small nuclear RNA
            processing, associates with the C-terminal repeat of RNA polymerase
            II
  JOURNAL   Cell 123 (2), 265-276 (2005)
   PUBMED   16239144
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK314939.1 and BC014442.1.
            
            On Nov 23, 2018 this sequence version replaced NM_020395.3.
            
            Summary: INTS12 is a subunit of the Integrator complex, which
            associates with the C-terminal domain of RNA polymerase II large
            subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of
            small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690)
            (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar
            2008].
            
            Transcript Variant: This variant (1) includes an alternate exon in
            the 5'UTR. Variants 1 and 2 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189655.65525.1,
                                           SRR1803615.160307.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000340139.10/ ENSP00000340737.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                AK314939.1         36-52
            18-1718             BC014442.1         1-1701
FEATURES             Location/Qualifiers
     source          1..1718
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q24"
     gene            1..1718
                     /gene="INTS12"
                     /gene_synonym="INT12; PHF22; SBBI22"
                     /note="integrator complex subunit 12"
                     /db_xref="GeneID:57117"
                     /db_xref="HGNC:HGNC:25067"
                     /db_xref="MIM:611355"
     exon            1..52
                     /gene="INTS12"
                     /gene_synonym="INT12; PHF22; SBBI22"
                     /inference="alignment:Splign:2.1.0"
     exon            53..214
                     /gene="INTS12"
                     /gene_synonym="INT12; PHF22; SBBI22"
                     /inference="alignment:Splign:2.1.0"
     exon            215..379
                     /gene="INTS12"
                     /gene_synonym="INT12; PHF22; SBBI22"
                     /inference="alignment:Splign:2.1.0"
     CDS             224..1612
                     /gene="INTS12"
                     /gene_synonym="INT12; PHF22; SBBI22"
                     /note="PHD finger protein 22; hypothetical nuclear factor
                     SBBI22"
                     /codon_start=1
                     /product="integrator complex subunit 12"
                     /protein_id="NP_065128.2"
                     /db_xref="CCDS:CCDS3671.1"
                     /db_xref="GeneID:57117"
                     /db_xref="HGNC:HGNC:25067"
                     /db_xref="MIM:611355"
                     /translation="MAATVNLELDPIFLKALGFLHSKSKDSAEKLKALLDESLARGID
                     SSYRPSQKDVEPPKISSTKNISIKQEPKISSSLPSGNNNGKVLTTEKVKKEAEKRPAD
                     KMKSDITEGVDIPKKPRLEKPETQSSPITVQSSKDLPMADLSSFEETSADDFAMEMGL
                     ACVVCRQMMVASGNQLVECQECHNLYHRDCHKPQVTDKEANDPRLVWYCARCTRQMKR
                     MAQKTQKPPQKPAPAVVSVTPAVKDPLVKKPETKLKQETTFLAFKRTEVKTSTVISGN
                     SSSASVSSSVTSGLTGWAAFAAKTSSAGPSTAKLSSTTQNNTGKPATSSANQKPVGLT
                     GLATSSKGGIGSKIGSNNSTTPTVPLKPPPPLTLGKTGLSRSVSCDNVSKVGLPSPSS
                     LVPGSSSQLSGNGNSGTSGPSGSTTSKTTSESSSSPSASLKGPTSQESQLNAMKRLQM
                     VKKKAAQKKLKK"
     exon            380..532
                     /gene="INTS12"
                     /gene_synonym="INT12; PHF22; SBBI22"
                     /inference="alignment:Splign:2.1.0"
     exon            533..720
                     /gene="INTS12"
                     /gene_synonym="INT12; PHF22; SBBI22"
                     /inference="alignment:Splign:2.1.0"
     exon            721..880
                     /gene="INTS12"
                     /gene_synonym="INT12; PHF22; SBBI22"
                     /inference="alignment:Splign:2.1.0"
     exon            881..1027
                     /gene="INTS12"
                     /gene_synonym="INT12; PHF22; SBBI22"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1718
                     /gene="INTS12"
                     /gene_synonym="INT12; PHF22; SBBI22"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1697..1702
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INTS12"
                     /gene_synonym="INT12; PHF22; SBBI22"
                     /note="hexamer: AATAAA"
     polyA_site      1718
                     /gene="INTS12"
                     /gene_synonym="INT12; PHF22; SBBI22"
                     /note="major polyA site"
ORIGIN      
        1 gtttccgaag ggaccaccgg gaacagacgg atcggcaggg cggggcggaa cggtgaggcc
       61 atctactgaa acacagaagc aattttaaaa gaaaatggag gaagtataac tgatctttgc
      121 agaaagtggg gaagtgagtt gaccagagaa ggatgagaga attgccaagt tgtactgaac
      181 gccaagctga gaatggtgat tctgaagata gaatgcgttt gcaatggctg ctactgtgaa
      241 cttggaactt gatcccattt ttttgaaagc actaggtttc ttgcattcaa agagtaaaga
      301 ttctgctgaa aagctaaaag cactgcttga tgaatctttg gctcggggca ttgattccag
      361 ttaccgtcca tctcaaaagg atgtggagcc acccaaaatt tcaagcacaa aaaacatttc
      421 cattaagcaa gagcccaaaa tatcatccag tcttccttct ggtaataata atggcaaggt
      481 cctcacaact gaaaaggtaa agaaggaagc tgaaaagaga cctgctgata aaatgaaatc
      541 agacatcact gaaggagttg atattccaaa gaaacctaga ttggagaaac cagaaacaca
      601 gtcatctccc attactgtcc aaagtagcaa ggatttacct atggctgacc tttccagttt
      661 tgaggagacc agtgctgatg attttgccat ggagatggga ttggcctgcg ttgtttgtag
      721 gcaaatgatg gtggcatctg gcaatcaatt agtagaatgt caggagtgcc ataatctcta
      781 ccaccgagat tgtcataaac cccaggtgac agacaaggaa gcgaatgacc ctcgcctggt
      841 gtggtattgt gcccgatgta ccagacaaat gaaaagaatg gctcaaaaaa ctcagaaacc
      901 accgcagaaa ccagcccctg cagttgtttc tgtaactcca gctgtcaaag atccattggt
      961 taagaaacca gaaactaaac tgaaacaaga gacaactttt ctagcgttta agagaacaga
     1021 agtcaagaca tccacagtta tttcaggaaa ttcttctagt gccagcgttt cctcgtcagt
     1081 aactagtggc ttaactggat gggcagcttt tgcagccaaa acttcctctg ctggtccttc
     1141 aacagcaaaa ttgagttcaa caacacaaaa caatactggg aaacctgcta cttcgtcagc
     1201 taaccagaaa cctgtgggtt tgactggtct ggcaacatca tccaaaggtg gaataggttc
     1261 caaaataggt tccaataaca gcactacgcc cactgtacct ttaaaaccac ctccacctct
     1321 aaccttgggt aaaactggcc ttagtcgctc agttagttgt gacaatgtca gcaaagtagg
     1381 tcttcctagt ccaagtagtt tagttccagg aagcagcagc caactaagtg ggaatggaaa
     1441 tagtggaaca tcaggaccta gtggaagtac taccagcaaa actacttcag aatccagcag
     1501 ctctccctca gcatccctta aaggcccaac ttcacaagaa tcacagctca atgctatgaa
     1561 gcgattacag atggtcaaga agaaagctgc ccaaaagaaa ctcaagaagt aatgtggcca
     1621 agtaggtttt tgtatcatat tagcctaaag atgaaaggct tattattatg atataatctg
     1681 taatacactg taatttaata aaagtcttca taatcaaa
//
