LOCUS       NM_001142405            1684 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens PRELI domain containing 3A (PRELID3A), transcript
            variant 1, mRNA.
ACCESSION   NM_001142405
VERSION     NM_001142405.2
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 1684)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 1684)
  AUTHORS   Miliara,X., Garnett,J.A., Tatsuta,T., Abid Ali,F., Baldie,H.,
            Perez-Dorado,I., Simpson,P., Yague,E., Langer,T. and Matthews,S.
  TITLE     Structural insight into the TRIAP1/PRELI-like domain family of
            mitochondrial phospholipid transfer complexes
  JOURNAL   EMBO Rep 16 (7), 824-835 (2015)
   PUBMED   26071602
  REMARK    GeneRIF: crystal structures of free TRIAP1 and TRIAP1-SLMO1 complex
            reveal how the PRELI domain is chaperoned during import into the
            intermembrane mitochondrial space; structural resemblance of
            PRELI-like domain of SLMO1 with that of mammalian
            phoshatidylinositol transfer proteins suggest they share similar
            lipid transfer mechanisms
REFERENCE   3  (bases 1 to 1684)
  AUTHORS   Hasson,S.A., Kane,L.A., Yamano,K., Huang,C.H., Sliter,D.A.,
            Buehler,E., Wang,C., Heman-Ackah,S.M., Hessa,T., Guha,R.,
            Martin,S.E. and Youle,R.J.
  TITLE     High-content genome-wide RNAi screens identify regulators of parkin
            upstream of mitophagy
  JOURNAL   Nature 504 (7479), 291-295 (2013)
   PUBMED   24270810
REFERENCE   4  (bases 1 to 1684)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB018070.1, AK303325.1, AP001029.5 and AK056046.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001142405.1.
            
            Transcript Variant: This variant (1) represents the more
            predominant transcript. Transcript variants 1 and 2 encode the same
            isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no quality transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.822104.1,
                                           SRR3476690.332588.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000440960.6/ ENSP00000404700.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-540               DB018070.1         34-573
            541-834             AK303325.1         598-891
            835-957             AP001029.5         74523-74645
            958-1684            AK056046.1         942-1668
FEATURES             Location/Qualifiers
     source          1..1684
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.21"
     gene            1..1684
                     /gene="PRELID3A"
                     /gene_synonym="C18orf43; HFL-EDDG1; SLMO1"
                     /note="PRELI domain containing 3A"
                     /db_xref="GeneID:10650"
                     /db_xref="HGNC:HGNC:24639"
                     /db_xref="MIM:616545"
     exon            1..79
                     /gene="PRELID3A"
                     /gene_synonym="C18orf43; HFL-EDDG1; SLMO1"
                     /inference="alignment:Splign:2.1.0"
     CDS             48..566
                     /gene="PRELID3A"
                     /gene_synonym="C18orf43; HFL-EDDG1; SLMO1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     erythroid differentiation and denucleation factor 1;
                     protein slowmo homolog 1; PRELI domain containing protein
                     3A"
                     /codon_start=1
                     /product="PRELI domain containing protein 3A isoform 1"
                     /protein_id="NP_001135877.1"
                     /db_xref="CCDS:CCDS11860.1"
                     /db_xref="GeneID:10650"
                     /db_xref="HGNC:HGNC:24639"
                     /db_xref="MIM:616545"
                     /translation="MKIWSSEHVFGHPWDTVIQAAMRKYPNPMNPSVLGVDVLQRRVD
                     GRGRLHSLRLLSTEWGLPSLVRAILGTSRTLTYIREHSVVDPVEKKMELCSTNITLTN
                     LVSVNERLVYTPHPENPEMTVLTQEAIITVKGISLGSYLESLMANTISSNAKKGWAAI
                     EWIIEHSESAVS"
     exon            80..248
                     /gene="PRELID3A"
                     /gene_synonym="C18orf43; HFL-EDDG1; SLMO1"
                     /inference="alignment:Splign:2.1.0"
     exon            249..338
                     /gene="PRELID3A"
                     /gene_synonym="C18orf43; HFL-EDDG1; SLMO1"
                     /inference="alignment:Splign:2.1.0"
     exon            339..409
                     /gene="PRELID3A"
                     /gene_synonym="C18orf43; HFL-EDDG1; SLMO1"
                     /inference="alignment:Splign:2.1.0"
     exon            410..512
                     /gene="PRELID3A"
                     /gene_synonym="C18orf43; HFL-EDDG1; SLMO1"
                     /inference="alignment:Splign:2.1.0"
     exon            513..599
                     /gene="PRELID3A"
                     /gene_synonym="C18orf43; HFL-EDDG1; SLMO1"
                     /inference="alignment:Splign:2.1.0"
     exon            600..1684
                     /gene="PRELID3A"
                     /gene_synonym="C18orf43; HFL-EDDG1; SLMO1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1658..1663
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRELID3A"
                     /gene_synonym="C18orf43; HFL-EDDG1; SLMO1"
                     /note="hexamer: ATTAAA"
     polyA_site      1684
                     /gene="PRELID3A"
                     /gene_synonym="C18orf43; HFL-EDDG1; SLMO1"
                     /note="major polyA site"
ORIGIN      
        1 gaagcacccg gcccggatcg cagagcccgc gccctgcgcc ggcggcaatg aagatctgga
       61 gctcggagca cgtgtttggc cacccgtggg acacggtcat ccaggcggcc atgcgcaagt
      121 acccgaaccc gatgaacccg agcgtgctgg gcgtggatgt gctacagcgc cgcgtggacg
      181 gccgcggccg cctgcacagc ttgcgcctgc tcagcaccga gtgggggctg cccagcctcg
      241 tgagagcgat tttgggaacc agtaggacat tgacatacat ccgagaacat tctgtggtgg
      301 atccagtgga aaagaaaatg gaactttgtt ctaccaatat cacactcaca aatttggtgt
      361 cagttaatga gaggttggtg tacacacctc atccagagaa cccagaaatg accgtgctca
      421 cacaagaagc catcatcact gtgaagggga ttagccttgg tagttatttg gaaagtttaa
      481 tggccaatac gatatcatcc aatgcaaaga aggggtgggc tgctatcgag tggataattg
      541 aacactctga aagcgctgtg agctaaggag gcctgtgcct gtgcttgtca taaatggtga
      601 tgcttcccag aagaaaggaa agaaggaggt gaggagagga cgagcaagga cgggacggaa
      661 aagcacgtct ggctgcgagg gcacacaggg ccggggagga ggattaggct ggactgatcg
      721 cgggtcgcag gtgaccccgg gaccagatgt ccctcccctc atgagcgtgc aacagggagc
      781 agccccagcc agccccaccg ccgccgtctg cgtggatgga gggctcgagg ccctcgcccg
      841 tgtcccttag gggcggcgcc catcgtcctg cctgccgcag tggcccagcc ccttctctcc
      901 ctgcaggtga cccgcgccgc ccccgcccgc ccgcccacgc tgtcctccac ttaggctcct
      961 ccacaaacgc tggcgggtgt gccgccctcc agcctctccg cccccgtccc ctcggtcctg
     1021 cagatcacca agcagctctc ctgggcccgc ggctgctccg ggcctcacat ctgctgctgg
     1081 cctcggtggg ctctgactgc ggggctcacg gggcctgggg ccatggcttt cttctcggcc
     1141 cccaaatgcc tttcctggag tggctaagcc tctcctgacg aggctcctca tgcggggaga
     1201 gggctggggt ccaggggttt cccggccctt tctgcaggct gtgccagccc cctccagtct
     1261 gccactgccg tgcccggggg acatcctgcg cccaggctgg aggccctgcc tcgctgcttg
     1321 ccagcctcac ctgctggggc tggaggccat ggatccctca tagtatccaa ggtttgagtt
     1381 cctgtttttc gccttatagt tttgtgagtg tttgagggac aacgaccaaa ggtcttttcc
     1441 ccaccatctt taaatcaaag ttgtttaaaa caacattaat tttaaaaaat acataaaagc
     1501 aacccatgct tatggttaaa aaagagtaca ggagtctgga gtccgttgaa gggtaaaggc
     1561 ctcccgcaag ctgccagtcg gctctttttc gcaaagcctt ccagaagttt tctgtgctta
     1621 tgaaagcgta tgtgtggcct ttctcttccc ttcttttatt aaacacagat aggtttatgc
     1681 tgga
//
