LOCUS       NM_033070               1799 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens haloacid dehalogenase like hydrolase domain containing
            5 (HDHD5), transcript variant 2, mRNA.
ACCESSION   NM_033070
VERSION     NM_033070.3
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 1799)
  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 1799)
  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
REFERENCE   3  (bases 1 to 1799)
  AUTHORS   Pope,S.N. and Lee,I.R.
  TITLE     Yeast two-hybrid identification of prostatic proteins interacting
            with human sex hormone-binding globulin
  JOURNAL   J Steroid Biochem Mol Biol 94 (1-3), 203-208 (2005)
   PUBMED   15862967
REFERENCE   4  (bases 1 to 1799)
  AUTHORS   Footz,T.K., Brinkman-Mills,P., Banting,G.S., Maier,S.A.,
            Riazi,M.A., Bridgland,L., Hu,S., Birren,B., Minoshima,S.,
            Shimizu,N., Pan,H., Nguyen,T., Fang,F., Fu,Y., Ray,L., Wu,H.,
            Shaull,S., Phan,S., Yao,Z., Chen,F., Huan,A., Hu,P., Wang,Q.,
            Loh,P., Qi,S., Roe,B.A. and McDermid,H.E.
  TITLE     Analysis of the cat eye syndrome critical region in humans and the
            region of conserved synteny in mice: a search for candidate genes
            at or near the human chromosome 22 pericentromere
  JOURNAL   Genome Res 11 (6), 1053-1070 (2001)
   PUBMED   11381032
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM558767.1, AK000461.1, AF273271.1 and BF515203.1.
            
            On Jun 2, 2019 this sequence version replaced NM_033070.2.
            
            Transcript Variant: This variant (2) uses an alternate first exon
            compared to variant 1. The resulting isoform (2) is longer and has
            a distinct N-terminus compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK000461.1, AF273271.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000336737.8/ ENSP00000337358.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 BM558767.1         11-11
            2-185               AK000461.1         2-185
            186-1780            AF273271.1         173-1767
            1781-1799           BF515203.1         17-35               c
FEATURES             Location/Qualifiers
     source          1..1799
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.1"
     gene            1..1799
                     /gene="HDHD5"
                     /gene_synonym="CECR5"
                     /note="haloacid dehalogenase like hydrolase domain
                     containing 5"
                     /db_xref="GeneID:27440"
                     /db_xref="HGNC:HGNC:1843"
     exon            1..152
                     /gene="HDHD5"
                     /gene_synonym="CECR5"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..1298
                     /gene="HDHD5"
                     /gene_synonym="CECR5"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; cat eye syndrome critical region protein 5; cat
                     eye syndrome chromosome region, candidate 5"
                     /codon_start=1
                     /product="haloacid dehalogenase-like hydrolase
                     domain-containing 5 isoform 2 precursor"
                     /protein_id="NP_149061.1"
                     /db_xref="CCDS:CCDS33595.1"
                     /db_xref="GeneID:27440"
                     /db_xref="HGNC:HGNC:1843"
                     /translation="MAAWGCVAALGAARGLCWRAARAAAGLQGRPARRCYAVGPAQSP
                     PTFGFLLDIDGVLVRGHRVIPAALKAFRRLVNSQGQLRVPVVFVTNAGNILQHSKAQE
                     LSALLGCEVDADQVILSHSPMKLFSEYHEKRMLVSGQGPVMENAQGLGFRNVVTVDEL
                     RMAFPLLDMVDLERRLKTTPLPRNDFPRIEGVLLLGEPVRWETSLQLIMDVLLSNGSP
                     GAGLATPPYPHLPVLASNMDLLWMAEAKMPRFGHGTFLLCLETIYQKVTGKELRYEGL
                     MGKPSILTYQYAEDLIRRQAERRGWAAPIRKLYAVGDNPMSDVYGANLFHQYLQKATH
                     DGAPELGAGGTRQQQPSASQSCISILVCTGVYNPRNPQSTEPVLGGGEPPFHGHRDLC
                     FSPGLMEASHVVNDVNEAVQLVFRKEGWALE"
     exon            153..356
                     /gene="HDHD5"
                     /gene_synonym="CECR5"
                     /inference="alignment:Splign:2.1.0"
     exon            357..469
                     /gene="HDHD5"
                     /gene_synonym="CECR5"
                     /inference="alignment:Splign:2.1.0"
     exon            470..563
                     /gene="HDHD5"
                     /gene_synonym="CECR5"
                     /inference="alignment:Splign:2.1.0"
     exon            564..597
                     /gene="HDHD5"
                     /gene_synonym="CECR5"
                     /inference="alignment:Splign:2.1.0"
     exon            598..772
                     /gene="HDHD5"
                     /gene_synonym="CECR5"
                     /inference="alignment:Splign:2.1.0"
     exon            773..961
                     /gene="HDHD5"
                     /gene_synonym="CECR5"
                     /inference="alignment:Splign:2.1.0"
     exon            962..1799
                     /gene="HDHD5"
                     /gene_synonym="CECR5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1779..1784
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HDHD5"
                     /gene_synonym="CECR5"
                     /note="hexamer: AATAAA"
     polyA_site      1799
                     /gene="HDHD5"
                     /gene_synonym="CECR5"
                     /note="major polyA site"
ORIGIN      
        1 gtgcacgtgc gcacggcgac ggccggatgg ctgcgtgggg ctgtgtggct gcgctcggcg
       61 cggcgcgtgg gctttgctgg cgggcggcgc gcgcggctgc ggggctccag ggccgccccg
      121 cccgcaggtg ctatgctgtg ggccccgctc agagcccacc cacctttggg ttcctgttgg
      181 acatcgatgg agtgcttgtg cggggccaca gagtgatccc tgctgctctg aaagccttcc
      241 gaaggctggt gaactcccag gggcagctgc gggtgcccgt ggtttttgtt acaaatgctg
      301 ggaacatctt acaacacagc aaagcccagg agctgtcagc cctgctgggg tgcgaggtgg
      361 atgcagacca agttatcctc tctcacagcc ccatgaagct cttctccgag taccatgaga
      421 agcggatgct ggtgtctgga caggggcccg tgatggaaaa tgcccaggga ctgggcttcc
      481 gaaatgtcgt caccgtggat gagctgcgga tggcctttcc tctgcttgac atggtggacc
      541 tggagcggcg gctaaagacc acgcccctcc cgaggaatga cttcccccgc attgaagggg
      601 tgctcctcct aggggagccg gtccgctggg agaccagcct gcagctgatc atggatgtcc
      661 tcctcagcaa tgggagccct ggggctggcc tggcaacacc cccctacccc cacctccccg
      721 tcctagccag caacatggat ctcctgtgga tggctgaagc caagatgccc aggtttggac
      781 atggcacctt tctgctgtgc ctggaaacca tttaccagaa agtgacgggc aaggagctga
      841 gatacgaggg cctgatgggc aaacccagca tcctcactta ccagtatgcc gaggacctga
      901 tcaggcgaca ggcggagagg cggggctggg ccgcccccat ccggaagctc tatgctgtgg
      961 gtgataaccc tatgtctgac gtatacggcg ccaacctgtt ccaccagtac ctgcagaagg
     1021 caacgcatga tggggcgcca gaactagggg ccgggggcac acggcagcaa cagccctcag
     1081 caagccagag ctgcatctcc atcctggtgt gtacaggcgt ctacaatccc aggaacccac
     1141 agtccacgga gcctgtcctt ggaggagggg agcctccatt ccacgggcac cgagacttat
     1201 gcttcagtcc agggctcatg gaggcctccc acgtggtgaa tgacgtgaat gaggctgtgc
     1261 agctggtctt ccgcaaggag ggctgggctt tggagtgagg gcagtgcggt ggaggtgagg
     1321 gggtgagcct ggacctgtgg gcgagtccca ttggctgggc tctggcctga tcactgggct
     1381 caggtcaggg cttggttccc ttgccaccct tcttgctgcc ccatgagtgt ggcattactg
     1441 gtcacttgga agaagacagt gactcttttt ccctgctggg tagcattttg tatggaacgg
     1501 ttggaatttt ctgggcccag ttcccacgtg cctttcgtgg cagtctaacc tcaggccatt
     1561 ctcttcccct gtgtgcctca gtgtccttct catttcagta gggacttctg aaatggggga
     1621 ggcagtgtgg aatactgtgg atgtctgtgc agagcctttg ccggcactga aggcatgcag
     1681 cctgtcggca gagtgtctta acaccagatg ctacttttta ctgtattgta gtttattgcc
     1741 cggagatgtg gggctttttt tttaaataaa ataatcataa taaatgttca tgatgctga
//
