LOCUS       NM_020362               1590 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens PITH domain containing 1 (PITHD1), mRNA.
ACCESSION   NM_020362
VERSION     NM_020362.5
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 1590)
  AUTHORS   Lachen-Montes,M., Ausin,K., Cartas-Cejudo,P., Fernandez-Irigoyen,J.
            and Santamaria,E.
  TITLE     Combination of Antibody Arrays to Functionally Characterize Dark
            Proteins in Human Olfactory Neuroepithelial Cells
  JOURNAL   Methods Mol Biol 2344, 227-238 (2021)
   PUBMED   34115363
  REMARK    GeneRIF: Combination of Antibody Arrays to Functionally
            Characterize Dark Proteins in Human Olfactory Neuroepithelial
            Cells.
REFERENCE   2  (bases 1 to 1590)
  AUTHORS   Kondo,H., Matsumura,T., Kaneko,M., Inoue,K., Kosako,H., Ikawa,M.,
            Takahama,Y. and Ohigashi,I.
  TITLE     PITHD1 is a proteasome-interacting protein essential for male
            fertilization
  JOURNAL   J Biol Chem 295 (6), 1658-1672 (2020)
   PUBMED   31915251
REFERENCE   3  (bases 1 to 1590)
  AUTHORS   Engqvist,H., Parris,T.Z., Kovacs,A., Nemes,S., Werner Ronnerman,E.,
            De Lara,S., Biermann,J., Sundfeldt,K., Karlsson,P. and Helou,K.
  TITLE     Immunohistochemical validation of COL3A1, GPR158 and PITHD1 as
            prognostic biomarkers in early-stage ovarian carcinomas
  JOURNAL   BMC Cancer 19 (1), 928 (2019)
   PUBMED   31533654
  REMARK    GeneRIF: An association of lower PITHD1 protein expression and
            unfavorable overall and disease-specific survival in clear-cell
            ovarian carcinoma patients
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1590)
  AUTHORS   Lu,B., Sun,X., Chen,Y., Jin,Q., Liang,Q., Liu,S., Li,Y., Zhou,Y.,
            Li,W. and Huang,Z.
  TITLE     Novel function of PITH domain-containing 1 as an activator of
            internal ribosomal entry site to enhance RUNX1 expression and
            promote megakaryocyte differentiation
  JOURNAL   Cell Mol Life Sci 72 (4), 821-832 (2015)
   PUBMED   25134913
  REMARK    GeneRIF: PITHD1 was a novel activator of IRES and enhanced RUNX1
            expression that subsequently promoted megakaryocyte
            differentiation.
REFERENCE   5  (bases 1 to 1590)
  AUTHORS   de Mateo,S., Castillo,J., Estanyol,J.M., Ballesca,J.L. and Oliva,R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
REFERENCE   6  (bases 1 to 1590)
  AUTHORS   Guo,D., Han,J., Adam,B.L., Colburn,N.H., Wang,M.H., Dong,Z.,
            Eizirik,D.L., She,J.X. and Wang,C.Y.
  TITLE     Proteomic analysis of SUMO4 substrates in HEK293 cells under serum
            starvation-induced stress
  JOURNAL   Biochem Biophys Res Commun 337 (4), 1308-1318 (2005)
   PUBMED   16236267
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB104988.1 and BC017208.2.
            
            On Nov 23, 2018 this sequence version replaced NM_020362.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF218024.1, AF271784.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000246151.9/ ENSP00000246151.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 DB104988.1         33-39
            8-1590              BC017208.2         1-1583
FEATURES             Location/Qualifiers
     source          1..1590
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..1590
                     /gene="PITHD1"
                     /gene_synonym="C1orf128; HT014; TXNL1CL"
                     /note="PITH domain containing 1"
                     /db_xref="GeneID:57095"
                     /db_xref="HGNC:HGNC:25022"
                     /db_xref="MIM:618784"
     exon            1..296
                     /gene="PITHD1"
                     /gene_synonym="C1orf128; HT014; TXNL1CL"
                     /inference="alignment:Splign:2.1.0"
     CDS             99..734
                     /gene="PITHD1"
                     /gene_synonym="C1orf128; HT014; TXNL1CL"
                     /note="TXNL1 C-terminal like; PITH (C-terminal
                     proteasome-interacting domain of thioredoxin-like) domain
                     containing 1"
                     /codon_start=1
                     /product="PITH domain-containing protein 1"
                     /protein_id="NP_065095.2"
                     /db_xref="CCDS:CCDS240.1"
                     /db_xref="GeneID:57095"
                     /db_xref="HGNC:HGNC:25022"
                     /db_xref="MIM:618784"
                     /translation="MSHGHSHGGGGCRCAAEREEPPEQRGLAYGLYLRIDLERLQCLN
                     ESREGSGRGVFKPWEERTDRSKFVESDADEELLFNIPFTGNVKLKGIIIMGEDDDSHP
                     SEMRLYKNIPQMSFDDTEREPDQTFSLNRDLTGELEYATKISRFSNVYHLSIHISKNF
                     GADTTKVFYIGLRGEWTELRRHEVTICNYEASANPADHRVHQVTPQTHFIS"
     exon            297..340
                     /gene="PITHD1"
                     /gene_synonym="C1orf128; HT014; TXNL1CL"
                     /inference="alignment:Splign:2.1.0"
     exon            341..418
                     /gene="PITHD1"
                     /gene_synonym="C1orf128; HT014; TXNL1CL"
                     /inference="alignment:Splign:2.1.0"
     exon            419..523
                     /gene="PITHD1"
                     /gene_synonym="C1orf128; HT014; TXNL1CL"
                     /inference="alignment:Splign:2.1.0"
     exon            524..632
                     /gene="PITHD1"
                     /gene_synonym="C1orf128; HT014; TXNL1CL"
                     /inference="alignment:Splign:2.1.0"
     exon            633..1590
                     /gene="PITHD1"
                     /gene_synonym="C1orf128; HT014; TXNL1CL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1569..1574
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PITHD1"
                     /gene_synonym="C1orf128; HT014; TXNL1CL"
                     /note="hexamer: AATAAA"
     polyA_site      1590
                     /gene="PITHD1"
                     /gene_synonym="C1orf128; HT014; TXNL1CL"
                     /note="major polyA site"
ORIGIN      
        1 agttgccgga gctgaacggc gcggagctgg tctgaggcga gccgagccga gcgagcgcgg
       61 cggtggggcc gagaggacgc gcaggtggcg gcgttgccat gtcgcacggt cacagccacg
      121 gcgggggtgg ctgccgctgc gccgccgaac gggaggagcc gcccgagcag cgcggcctgg
      181 cctacggcct gtacctgcgc atcgacctgg agcggctgca atgccttaac gagagccgcg
      241 agggcagcgg ccgcggcgtc ttcaagccgt gggaggagcg gaccgaccgc tccaagtttg
      301 ttgaaagtga tgcagatgaa gagcttctgt ttaatattcc atttacgggc aatgtcaagc
      361 tcaaaggcat cattataatg ggagaggatg atgactcaca cccctctgag atgagactgt
      421 acaagaatat tccacagatg tcctttgatg atacagaaag ggagccagat cagaccttta
      481 gtctgaaccg ggatcttaca ggagaattag agtatgctac aaaaatttct cgtttttcaa
      541 atgtctatca tctctcaatt catatttcaa aaaacttcgg agcagatacg acaaaggtct
      601 tttatattgg cctgagagga gagtggactg agcttcgccg acacgaggtg accatctgca
      661 attacgaagc atctgccaac ccagcagacc atagggtcca tcaggttacc ccacagacac
      721 actttatttc ctaagggctg gccaaggctc ccatagaggc gctgtgtcag tgaagatgta
      781 cgactacctg ttgggaagga caaagggatg aggctccaga gagagttggc tgccacagcc
      841 tctgccaagc tttgtctttg gggcttgctg cagaaacctg gcctacggaa gatacgacac
      901 cactgggagg gttgtgtagg tgccagggga ccatcgtggt tctctagggc gctgtggaaa
      961 ttgggtcttg ggctgggtgg catctggcag tcatgggtaa cacttgcttt tccagttaat
     1021 gtggccatgt gattccaagt gtcatgttgc tttgtggcaa gattgttgtg tgacttgttt
     1081 ttttgttttt gtttttgttt ttttaaagga aactatttgt gggctatagg aaactttctg
     1141 atgcctccgg attgtgttag tagtagccat caggagggtc tccaactaaa acacttgttc
     1201 ctgcttgctc ctttcccctc tcattgttca gcattcttgt caagttgccc agcttggagt
     1261 tgtctgtcac gcacatgtgt cctgtggtta tagctagaag gacaggagtc tcctgctgat
     1321 gcgtgatagc ttaagcttgg ggagaaggtc ttttccactg cctagctaag cagtctgggg
     1381 agagcatggg gatcatttct atgtgtgtgg gtaatctggt cagtaagatt gagacttagt
     1441 taagattccc cttggaaatt ccttaatgtt tattagcttc taactagtgt tgtaagtccg
     1501 atgccagaat ttggagattt gagttcttct tttcatggct tttattcact gtgactaata
     1561 agcttcctaa taaatccttg ccagacttaa
//
