LOCUS       NM_003143                677 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens single stranded DNA binding protein 1 (SSBP1),
            transcript variant 5, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_003143
VERSION     NM_003143.3
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 677)
  AUTHORS   Su,J., Li,Y., Liu,Q., Peng,G., Qin,C. and Li,Y.
  TITLE     Identification of SSBP1 as a ferroptosis-related biomarker of
            glioblastoma based on a novel mitochondria-related gene risk model
            and in vitro experiments
  JOURNAL   J Transl Med 20 (1), 440 (2022)
   PUBMED   36180956
  REMARK    GeneRIF: Identification of SSBP1 as a ferroptosis-related biomarker
            of glioblastoma based on a novel mitochondria-related gene risk
            model and in vitro experiments.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 677)
  AUTHORS   Huang,J. and Xie,Z.F.
  TITLE     Identification of SSBP1 as a prognostic marker in human lung
            adenocarcinoma using bioinformatics approaches
  JOURNAL   Math Biosci Eng 19 (3), 3022-3035 (2022)
   PUBMED   35240818
  REMARK    GeneRIF: Identification of SSBP1 as a prognostic marker in human
            lung adenocarcinoma using bioinformatics approaches.
REFERENCE   3  (bases 1 to 677)
  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   4  (bases 1 to 677)
  AUTHORS   Jurkute,N., D'Esposito,F., Robson,A.G., Pitceathly,R.D.S.,
            Cordeiro,F., Raymond,F.L., Moore,A.T., Michaelides,M.,
            Yu-Wai-Man,P., Webster,A.R. and Arno,G.
  CONSRTM   Genomics England Research Consortium
  TITLE     SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum,
            Reporting Variable Penetrance and Confirming Recessive Inheritance
  JOURNAL   Invest Ophthalmol Vis Sci 62 (15), 12 (2021)
   PUBMED   34905022
  REMARK    GeneRIF: SSBP1-Disease Update: Expanding the Genetic and Clinical
            Spectrum, Reporting Variable Penetrance and Confirming Recessive
            Inheritance.
REFERENCE   5  (bases 1 to 677)
  AUTHORS   Meunier,I., Bocquet,B., Defoort-Dhellemmes,S., Smirnov,V.,
            Arndt,C., Picot,M.C., Dollfus,H., Charif,M., Audo,I., Huguet,H.,
            Zanlonghi,X. and Lenaers,G.
  TITLE     Characterization of SSBP1-related optic atrophy and foveopathy
  JOURNAL   Sci Rep 11 (1), 18703 (2021)
   PUBMED   34548540
  REMARK    GeneRIF: Characterization of SSBP1-related optic atrophy and
            foveopathy.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 677)
  AUTHORS   Spelbrink,J.N., Toivonen,J.M., Hakkaart,G.A., Kurkela,J.M.,
            Cooper,H.M., Lehtinen,S.K., Lecrenier,N., Back,J.W., Speijer,D.,
            Foury,F. and Jacobs,H.T.
  TITLE     In vivo functional analysis of the human mitochondrial DNA
            polymerase POLG expressed in cultured human cells
  JOURNAL   J Biol Chem 275 (32), 24818-24828 (2000)
   PUBMED   10827171
REFERENCE   7  (bases 1 to 677)
  AUTHORS   Schultz,R.A., Swoap,S.J., McDaniel,L.D., Zhang,B., Koon,E.C.,
            Garry,D.J., Li,K. and Williams,R.S.
  TITLE     Differential expression of mitochondrial DNA replication factors in
            mammalian tissues
  JOURNAL   J Biol Chem 273 (6), 3447-3451 (1998)
   PUBMED   9452467
REFERENCE   8  (bases 1 to 677)
  AUTHORS   Yang,C., Curth,U., Urbanke,C. and Kang,C.
  TITLE     Crystal structure of human mitochondrial single-stranded DNA
            binding protein at 2.4 A resolution
  JOURNAL   Nat Struct Biol 4 (2), 153-157 (1997)
   PUBMED   9033597
REFERENCE   9  (bases 1 to 677)
  AUTHORS   Tiranti,V., Rossi,E., Ruiz-Carrillo,A., Rossi,G., Rocchi,M.,
            DiDonato,S., Zuffardi,O. and Zeviani,M.
  TITLE     Chromosomal localization of mitochondrial transcription factor A
            (TCF6), single-stranded DNA-binding protein (SSBP), and
            endonuclease G (ENDOG), three human housekeeping genes involved in
            mitochondrial biogenesis
  JOURNAL   Genomics 25 (2), 559-564 (1995)
   PUBMED   7789991
REFERENCE   10 (bases 1 to 677)
  AUTHORS   Tiranti,V., Rocchi,M., DiDonato,S. and Zeviani,M.
  TITLE     Cloning of human and rat cDNAs encoding the mitochondrial
            single-stranded DNA-binding protein (SSB)
  JOURNAL   Gene 126 (2), 219-225 (1993)
   PUBMED   8482537
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BU532904.1, AF277319.1 and BP308841.1.
            
            On Nov 22, 2018 this sequence version replaced NM_003143.2.
            
            Summary: SSBP1 is a housekeeping gene involved in mitochondrial
            biogenesis (Tiranti et al., 1995 [PubMed 7789991]). It is also a
            subunit of a single-stranded DNA (ssDNA)-binding complex involved
            in the maintenance of genome stability (Huang et al., 2009) [PubMed
            19683501].[supplied by OMIM, Feb 2010].
            
            Transcript Variant: This variant (5) differs in the 5' UTR compared
            to variant 1. Variants 1 through 5 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 :: SRR1803614.236617.1,
                                           SRR1803616.229132.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000265304.11/
                                                  ENSP00000265304.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                BU532904.1         41-57
            18-646              AF277319.1         1-629
            647-677             BP308841.1         553-583
FEATURES             Location/Qualifiers
     source          1..677
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..677
                     /gene="SSBP1"
                     /gene_synonym="Mt-SSB; mtSSB; OPA13; SOSS-B1; SSBP"
                     /note="single stranded DNA binding protein 1"
                     /db_xref="GeneID:6742"
                     /db_xref="HGNC:HGNC:11317"
                     /db_xref="MIM:600439"
     exon            1..53
                     /gene="SSBP1"
                     /gene_synonym="Mt-SSB; mtSSB; OPA13; SOSS-B1; SSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            54..120
                     /gene="SSBP1"
                     /gene_synonym="Mt-SSB; mtSSB; OPA13; SOSS-B1; SSBP"
                     /inference="alignment:Splign:2.1.0"
     CDS             97..543
                     /gene="SSBP1"
                     /gene_synonym="Mt-SSB; mtSSB; OPA13; SOSS-B1; SSBP"
                     /note="single-stranded DNA-binding protein, mitochondrial;
                     PWP1-interacting protein 17; single-stranded DNA binding
                     protein 1, mitochondrial"
                     /codon_start=1
                     /product="single-stranded DNA-binding protein,
                     mitochondrial precursor"
                     /protein_id="NP_003134.1"
                     /db_xref="CCDS:CCDS5866.1"
                     /db_xref="GeneID:6742"
                     /db_xref="HGNC:HGNC:11317"
                     /db_xref="MIM:600439"
                     /translation="MFRRPVLQVLRQFVRHESETTTSLVLERSLNRVHLLGRVGQDPV
                     LRQVEGKNPVTIFSLATNEMWRSGDSEVYQLGDVSQKTTWHRISVFRPGLRDVAYQYV
                     KKGSRIYLEGKIDYGEYMDKNNVRRQATTIIADNIIFLSDQTKEKE"
     exon            121..181
                     /gene="SSBP1"
                     /gene_synonym="Mt-SSB; mtSSB; OPA13; SOSS-B1; SSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            182..322
                     /gene="SSBP1"
                     /gene_synonym="Mt-SSB; mtSSB; OPA13; SOSS-B1; SSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            323..410
                     /gene="SSBP1"
                     /gene_synonym="Mt-SSB; mtSSB; OPA13; SOSS-B1; SSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            411..499
                     /gene="SSBP1"
                     /gene_synonym="Mt-SSB; mtSSB; OPA13; SOSS-B1; SSBP"
                     /inference="alignment:Splign:2.1.0"
     exon            500..677
                     /gene="SSBP1"
                     /gene_synonym="Mt-SSB; mtSSB; OPA13; SOSS-B1; SSBP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      627..632
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SSBP1"
                     /gene_synonym="Mt-SSB; mtSSB; OPA13; SOSS-B1; SSBP"
                     /note="hexamer: ATTAAA"
     polyA_site      650
                     /gene="SSBP1"
                     /gene_synonym="Mt-SSB; mtSSB; OPA13; SOSS-B1; SSBP"
                     /note="major polyA site"
     regulatory      656..661
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SSBP1"
                     /gene_synonym="Mt-SSB; mtSSB; OPA13; SOSS-B1; SSBP"
                     /note="hexamer: AATAAT"
     polyA_site      677
                     /gene="SSBP1"
                     /gene_synonym="Mt-SSB; mtSSB; OPA13; SOSS-B1; SSBP"
ORIGIN      
        1 gtgcgccgga agtgatcccc tgcgtggctg ggctgctcgg gttagatcgt caggaaaagc
       61 ctaaagatta gactgtaaga aaagaaaata gaagccatgt ttcgaagacc tgtattacag
      121 gtacttcgtc agtttgtaag acatgagtcc gaaacaacta ccagtttggt tcttgaaaga
      181 tccctgaatc gtgtgcactt acttgggcga gtgggtcagg accctgtctt gagacaggtg
      241 gaaggaaaaa atccagtcac aatattttct ctagcaacta atgagatgtg gcgatcaggg
      301 gatagtgaag tttaccaact gggtgatgtc agtcaaaaga caacatggca cagaatatca
      361 gtattccggc caggcctcag agacgtggca tatcaatatg tgaaaaaggg gtctcgaatt
      421 tatttggaag ggaaaataga ctatggtgaa tacatggata aaaataatgt gaggcgacaa
      481 gcaacaacaa tcatagctga taatattata tttctgagtg accagacgaa agagaaggag
      541 tagaaaggat gattcttctt tggccatcat ttggtacagt ctcatttcca agtcatgtat
      601 aatctttatg gcttccaagg acaagaatta aaatactctt ttacgtaaaa tgagtaataa
      661 tcttttttct gactgtc
//
