LOCUS       NM_138789               1090 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens PIH1 domain containing 2 (PIH1D2), transcript variant
            1, mRNA.
ACCESSION   NM_138789
VERSION     NM_138789.4
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 1090)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 1090)
  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 1090)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1090)
  AUTHORS   Maurizy,C., Quinternet,M., Abel,Y., Verheggen,C., Santo,P.E.,
            Bourguet,M., C F Paiva,A., Bragantini,B., Chagot,M.E., Robert,M.C.,
            Abeza,C., Fabre,P., Fort,P., Vandermoere,F., M F Sousa,P.,
            Rain,J.C., Charpentier,B., Cianferani,S., Bandeiras,T.M.,
            Pradet-Balade,B., Manival,X. and Bertrand,E.
  TITLE     The RPAP3-Cterminal domain identifies R2TP-like quaternary
            chaperones
  JOURNAL   Nat Commun 9 (1), 2093 (2018)
   PUBMED   29844425
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1090)
  AUTHORS   Simicek,M., Lievens,S., Laga,M., Guzenko,D., Aushev,V.N., Kalev,P.,
            Baietti,M.F., Strelkov,S.V., Gevaert,K., Tavernier,J. and
            Sablina,A.A.
  TITLE     The deubiquitylase USP33 discriminates between RALB functions in
            autophagy and innate immune response
  JOURNAL   Nat Cell Biol 15 (10), 1220-1230 (2013)
   PUBMED   24056301
REFERENCE   6  (bases 1 to 1090)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CB159963.1, BC019238.2 and AI339257.1.
            
            On Aug 13, 2020 this sequence version replaced NM_138789.3.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.1897677.1,
                                           SRR5189664.89176.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467146 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000280350.10/ ENSP00000280350.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-38                CB159963.1         155-192
            39-1086             BC019238.2         2-1049
            1087-1090           AI339257.1         9-12                c
FEATURES             Location/Qualifiers
     source          1..1090
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.1"
     gene            1..1090
                     /gene="PIH1D2"
                     /gene_synonym="DNAAF15"
                     /note="PIH1 domain containing 2"
                     /db_xref="GeneID:120379"
                     /db_xref="HGNC:HGNC:25210"
     exon            1..38
                     /gene="PIH1D2"
                     /gene_synonym="DNAAF15"
                     /inference="alignment:Splign:2.1.0"
     exon            39..246
                     /gene="PIH1D2"
                     /gene_synonym="DNAAF15"
                     /inference="alignment:Splign:2.1.0"
     CDS             70..1017
                     /gene="PIH1D2"
                     /gene_synonym="DNAAF15"
                     /note="isoform 1 is encoded by transcript variant 1; PIH1
                     domain-containing protein 2; dynein axonemal assembly
                     factor 15"
                     /codon_start=1
                     /product="PIH1 domain-containing protein 2 isoform 1"
                     /protein_id="NP_620144.1"
                     /db_xref="CCDS:CCDS8355.1"
                     /db_xref="GeneID:120379"
                     /db_xref="HGNC:HGNC:25210"
                     /translation="METSSKGLLTQVTQFWNLLDDLAQSDPEGYEKFIQQQLKEGKQL
                     CAAPEPQLCLQTRILKPKEKILFINLCQWTRIPAPQSTTHPVPLTVGKPEDTTEISDA
                     YTVIDVAYNPDVLHAAEKDQVKKNQLIQMAMKCIEEKFQFTLSHSYHITKFRIKGSIQ
                     RMKQNLMGIQTDSIDLREKMRRELTLGQIRSSTMSNPDHFPQLLLPKDQVSGKAVCLI
                     EEISSTEIQVEMKMPAYELKIVHDHSEKPLKIELKVELPGINSVSLCDLSVSEDDLLI
                     EVSEKYRLHLNLPKLIDTEMTTAKFIKEKSTLIITMPLV"
     exon            247..370
                     /gene="PIH1D2"
                     /gene_synonym="DNAAF15"
                     /inference="alignment:Splign:2.1.0"
     exon            371..616
                     /gene="PIH1D2"
                     /gene_synonym="DNAAF15"
                     /inference="alignment:Splign:2.1.0"
     exon            617..882
                     /gene="PIH1D2"
                     /gene_synonym="DNAAF15"
                     /inference="alignment:Splign:2.1.0"
     exon            883..1090
                     /gene="PIH1D2"
                     /gene_synonym="DNAAF15"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1065..1070
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIH1D2"
                     /gene_synonym="DNAAF15"
                     /note="hexamer: ATTAAA"
     polyA_site      1090
                     /gene="PIH1D2"
                     /gene_synonym="DNAAF15"
                     /note="major polyA site"
ORIGIN      
        1 aacaggcgtc gcggtttgtc aaggaactga gagaagaggc ttaagaaaat tattcaccac
       61 tcataagtca tggagacatc ctcaaaaggt ctgcttaccc aagttactca gttttggaac
      121 ctcctagatg atctagctca gagtgaccct gagggctatg agaagtttat tcagcagcag
      181 ctgaaagaag ggaaacagct ctgtgctgcc ccagaaccac agctttgtct acagaccagg
      241 attctgaaac caaaagaaaa aatacttttt atcaacctgt gtcagtggac aaggatccca
      301 gctccccaat caaccactca tccagtacct ctaactgttg gcaaaccaga agatacaact
      361 gagatatcag atgcttacac agtcattgat gttgcctaca atcctgatgt tcttcatgca
      421 gcagaaaagg accaagtgaa aaaaaatcag ttaattcaga tggccatgaa atgcattgag
      481 gagaaattcc agttcaccct ctcacactct taccatatta ccaaatttag aataaaagga
      541 agcattcaaa gaatgaaaca aaatctgatg ggaatccaaa ctgattccat agatttaaga
      601 gaaaaaatga gaagggaact aactcttgga cagatacgaa gcagtactat gagcaatcca
      661 gatcactttc ctcaactgtt actgccaaaa gaccaagttt caggcaaagc agtgtgtctg
      721 atagaagaga tttccagtac tgaaatccag gtggagatga agatgccagc ctatgaacta
      781 aaaattgtgc atgatcacag tgagaaacct ctgaaaattg agttgaaagt tgaattacct
      841 ggtattaatt ctgtctctct ctgtgacctt agtgtttctg aggatgattt attgattgaa
      901 gtatctgaga agtacagatt acatctgaat cttccaaaac ttattgatac tgaaatgacc
      961 acagcaaaat ttatcaaaga aaaatccacg ctaatcatca caatgccttt ggtgtgaaag
     1021 aagagcatca tatgttttgg gttttcagtg ctaaagtcat gtgaattaaa ggaccttcat
     1081 tttggctaaa
//
