LOCUS       NM_032018               3223 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens SprT-like N-terminal domain (SPRTN), transcript
            variant 1, mRNA.
ACCESSION   NM_032018
VERSION     NM_032018.7
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 3223)
  AUTHORS   Batel,A., Polovic,M., Glumac,M., Suman,O., Jadrijevic,S., Lozic,B.,
            Petrovic,M., Samardzija,B., Bradshaw,N.J., Skube,K., Palada,V.,
            Acman,M. and Marinovic Terzic,I.
  TITLE     SPRTN is involved in hepatocellular carcinoma development through
            the ER stress response
  JOURNAL   Cancer Gene Ther 31 (3), 376-386 (2024)
   PUBMED   38086993
  REMARK    GeneRIF: SPRTN is involved in hepatocellular carcinoma development
            through the ER stress response.
            Erratum:[Cancer Gene Ther. 2024 May;31(5):802-804. doi:
            10.1038/s41417-024-00772-w.. PMID: 38600122]
REFERENCE   2  (bases 1 to 3223)
  AUTHORS   Weickert,P., Li,H.Y., Gotz,M.J., Durauer,S., Yaneva,D., Zhao,S.,
            Cordes,J., Acampora,A.C., Forne,I., Imhof,A. and Stingele,J.
  TITLE     SPRTN patient variants cause global-genome DNA-protein crosslink
            repair defects
  JOURNAL   Nat Commun 14 (1), 352 (2023)
   PUBMED   36681662
  REMARK    GeneRIF: SPRTN patient variants cause global-genome DNA-protein
            crosslink repair defects.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3223)
  AUTHORS   Yaneva,D., Sparks,J.L., Donsbach,M., Zhao,S., Weickert,P.,
            Bezalel-Buch,R., Stingele,J. and Walter,J.C.
  TITLE     The FANCJ helicase unfolds DNA-protein crosslinks to promote their
            repair
  JOURNAL   Mol Cell 83 (1), 43-56 (2023)
   PUBMED   36608669
REFERENCE   4  (bases 1 to 3223)
  AUTHORS   Kroning,A., van den Boom,J., Kracht,M., Kueck,A.F. and Meyer,H.
  TITLE     Ubiquitin-directed AAA+ ATPase p97/VCP unfolds stable proteins
            crosslinked to DNA for proteolysis by SPRTN
  JOURNAL   J Biol Chem 298 (6), 101976 (2022)
   PUBMED   35469923
  REMARK    GeneRIF: Ubiquitin-directed AAA+ ATPase p97/VCP unfolds stable
            proteins crosslinked to DNA for proteolysis by SPRTN.
REFERENCE   5  (bases 1 to 3223)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   6  (bases 1 to 3223)
  AUTHORS   Mosbech,A., Gibbs-Seymour,I., Kagias,K., Thorslund,T., Beli,P.,
            Povlsen,L., Nielsen,S.V., Smedegaard,S., Sedgwick,G., Lukas,C.,
            Hartmann-Petersen,R., Lukas,J., Choudhary,C., Pocock,R.,
            Bekker-Jensen,S. and Mailand,N.
  TITLE     DVC1 (C1orf124) is a DNA damage-targeting p97 adaptor that promotes
            ubiquitin-dependent responses to replication blocks
  JOURNAL   Nat Struct Mol Biol 19 (11), 1084-1092 (2012)
   PUBMED   23042605
  REMARK    GeneRIF: DVC1 (C1orf124) is a DNA damage-targeting p97 adaptor that
            promotes ubiquitin-dependent responses to replication blocks.
REFERENCE   7  (bases 1 to 3223)
  AUTHORS   Juhasz,S., Balogh,D., Hajdu,I., Burkovics,P., Villamil,M.A.,
            Zhuang,Z. and Haracska,L.
  TITLE     Characterization of human Spartan/C1orf124, an ubiquitin-PCNA
            interacting regulator of DNA damage tolerance
  JOURNAL   Nucleic Acids Res 40 (21), 10795-10808 (2012)
   PUBMED   22987070
  REMARK    GeneRIF: Authors propose that Spartan promotes genomic stability by
            regulating the choice of rescue of stalled replication fork, whose
            mechanism includes its interaction with ubiquitin-conjugated PCNA
            and protection against PCNA deubiquitylation.
REFERENCE   8  (bases 1 to 3223)
  AUTHORS   Ghosal,G., Leung,J.W., Nair,B.C., Fong,K.W. and Chen,J.
  TITLE     Proliferating cell nuclear antigen (PCNA)-binding protein C1orf124
            is a regulator of translesion synthesis
  JOURNAL   J Biol Chem 287 (41), 34225-34233 (2012)
   PUBMED   22902628
  REMARK    GeneRIF: C1orf124 acts at multiple steps in TLS, stabilizes RAD18
            and ubiquitinated PCNA at damage sites, and facilitates the switch
            from replicative to TLS polymerase to bypass DNA lesion.
REFERENCE   9  (bases 1 to 3223)
  AUTHORS   Machida,Y., Kim,M.S. and Machida,Y.J.
  TITLE     Spartan/C1orf124 is important to prevent UV-induced mutagenesis
  JOURNAL   Cell Cycle 11 (18), 3395-3402 (2012)
   PUBMED   22894931
  REMARK    GeneRIF: Spartan is recruited to sites of stalled replication via
            ubiquitinated PCNA and plays an important role to prevent mutations
            associated with replication of damaged DNA.
REFERENCE   10 (bases 1 to 3223)
  AUTHORS   Centore,R.C., Yazinski,S.A., Tse,A. and Zou,L.
  TITLE     Spartan/C1orf124, a reader of PCNA ubiquitylation and a regulator
            of UV-induced DNA damage response
  JOURNAL   Mol Cell 46 (5), 625-635 (2012)
   PUBMED   22681887
  REMARK    GeneRIF: Spartan promotes an unexpected feed-forward loop to
            enhance PCNA ubiquitylation and translesion DNA synthesis.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC068478.1, AL117352.12 and
            BU630543.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_032018.6.
            
            Summary: The protein encoded by this gene may play a role in DNA
            repair during replication of damaged DNA. This protein recruits
            valosin containing protein (p97) to stalled DNA replication forks
            where it may prevent excessive translesional DNA synthesis and
            limit the number of DNA-damage induced mutations. It may also be
            involved in replication-related G2/M-checkpoint regulation.
            Deficiency of a similar protein in mouse causes chromosomal
            instability and progeroid phenotypes. Mutations in this gene have
            been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively
            spliced transcript variants have been identified. [provided by
            RefSeq, Mar 2015].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (A).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1803615.161396.1,
                                           SRR1803612.76500.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295050.12/ ENSP00000295050.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-977               BC068478.1         309-1285
            978-978             AL117352.12        81513-81513
            979-1806            BC068478.1         1287-2114
            1807-1807           AL117352.12        82342-82342
            1808-2440           BC068478.1         2116-2748
            2441-2826           AL117352.12        82976-83361
            2827-3223           BU630543.1         21-417              c
FEATURES             Location/Qualifiers
     source          1..3223
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.2"
     gene            1..3223
                     /gene="SPRTN"
                     /gene_synonym="C1orf124; DVC1; PRO4323; spartan"
                     /note="SprT-like N-terminal domain"
                     /db_xref="GeneID:83932"
                     /db_xref="HGNC:HGNC:25356"
                     /db_xref="MIM:616086"
     exon            1..312
                     /gene="SPRTN"
                     /gene_synonym="C1orf124; DVC1; PRO4323; spartan"
                     /inference="alignment:Splign:2.1.0"
     CDS             92..1561
                     /gene="SPRTN"
                     /gene_synonym="C1orf124; DVC1; PRO4323; spartan"
                     /note="isoform a is encoded by transcript variant 1; zinc
                     finger RAD18 domain-containing protein; DNA-dependent
                     metalloprotease SPRTN; DNA damage-targeting VCP (p97)
                     adaptor; DNA damage protein targeting VCP"
                     /codon_start=1
                     /product="DNA-dependent metalloprotease SPRTN isoform a"
                     /protein_id="NP_114407.3"
                     /db_xref="CCDS:CCDS1594.1"
                     /db_xref="GeneID:83932"
                     /db_xref="HGNC:HGNC:25356"
                     /db_xref="MIM:616086"
                     /translation="MDDDLMLALRLQEEWNLQEAERDHAQESLSLVDASWELVDPTPD
                     LQALFVQFNDQFFWGQLEAVEVKWSVRMTLCAGICSYEGKGGMCSIRLSEPLLKLRPR
                     KDLVETLLHEMIHAYLFVTNNDKDREGHGPEFCKHMHRINSLTGANITVYHTFHDEVD
                     EYRRHWWRCNGPCQHRPPYYGYVKRATNREPSAHDYWWAEHQKTCGGTYIKIKEPENY
                     SKKGKGKAKLGKEPVLAAENKDKPNRGEAQLVIPFSGKGYVLGETSNLPSPGKLITSH
                     AINKTQDLLNQNHSANAVRPNSKIKVKFEQNGSSKNSHLVSPAVSNSHQNVLSNYFPR
                     VSFANQKAFRGVNGSPRISVTVGNIPKNSVSSSSQRRVSSSKISLRNSSKVTESASVM
                     PSQDVSGSEDTFPNKRPRLEDKTVFDNFFIKKEQIKSSGNDPKYSTTTAQNSSSSSSQ
                     SKMVNCPVCQNEVLESQINEHLDWCLEGDSIKVKSEESL"
     exon            313..412
                     /gene="SPRTN"
                     /gene_synonym="C1orf124; DVC1; PRO4323; spartan"
                     /inference="alignment:Splign:2.1.0"
     exon            413..541
                     /gene="SPRTN"
                     /gene_synonym="C1orf124; DVC1; PRO4323; spartan"
                     /inference="alignment:Splign:2.1.0"
     exon            542..809
                     /gene="SPRTN"
                     /gene_synonym="C1orf124; DVC1; PRO4323; spartan"
                     /inference="alignment:Splign:2.1.0"
     exon            810..3223
                     /gene="SPRTN"
                     /gene_synonym="C1orf124; DVC1; PRO4323; spartan"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2420..2425
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPRTN"
                     /gene_synonym="C1orf124; DVC1; PRO4323; spartan"
                     /note="hexamer: AATAAA"
     polyA_site      2443
                     /gene="SPRTN"
                     /gene_synonym="C1orf124; DVC1; PRO4323; spartan"
                     /note="major polyA site"
     regulatory      2890..2895
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPRTN"
                     /gene_synonym="C1orf124; DVC1; PRO4323; spartan"
                     /note="hexamer: AATATA"
     polyA_site      2913
                     /gene="SPRTN"
                     /gene_synonym="C1orf124; DVC1; PRO4323; spartan"
     regulatory      3056..3061
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPRTN"
                     /gene_synonym="C1orf124; DVC1; PRO4323; spartan"
                     /note="hexamer: AGTAAA"
     polyA_site      3082
                     /gene="SPRTN"
                     /gene_synonym="C1orf124; DVC1; PRO4323; spartan"
     regulatory      3202..3207
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPRTN"
                     /gene_synonym="C1orf124; DVC1; PRO4323; spartan"
                     /note="hexamer: AATAAA"
     polyA_site      3223
                     /gene="SPRTN"
                     /gene_synonym="C1orf124; DVC1; PRO4323; spartan"
ORIGIN      
        1 agtcctggtc ctcggctagg cggcttgggg tcgcggcgta actggggagc cagcctgacg
       61 ccggcggacc ccgcctgtga tcctggcaac gatggatgat gacttgatgt tggcactgcg
      121 gcttcaggag gagtggaact tgcaggaggc ggagcgcgat catgcccagg agtccctgtc
      181 gctagtggac gcgtcgtggg agttggtgga ccccacaccg gacttgcagg cactgtttgt
      241 tcagtttaac gaccaattct tctggggcca gctggaggcc gtcgaggtga agtggagcgt
      301 gcgaatgacc ctgtgtgctg ggatatgcag ctatgaaggg aagggtggaa tgtgttccat
      361 ccgtctcagc gaaccccttt tgaagttgag gccaagaaag gatcttgtag agaccctcct
      421 gcatgaaatg atacatgcct atttatttgt cactaataac gacaaagacc gagaagggca
      481 tggtccagaa ttttgtaaac atatgcatcg catcaacagc ctgactggag ccaatataac
      541 ggtataccat acttttcacg atgaggtgga tgagtatcgg cgacactggt ggcgctgcaa
      601 tgggccgtgc cagcacaggc caccgtatta cggctatgtc aaacgagcta ctaacaggga
      661 accctctgct catgactatt ggtgggctga gcaccagaaa acctgtggag gcacttacat
      721 aaaaatcaag gaaccagaga attactcaaa aaaaggcaaa ggaaaggcaa aactaggaaa
      781 ggaaccagta ttggccgcag agaataaaga taaacccaac agaggtgagg cccagctagt
      841 aatccctttt agtgggaaag gatatgttct aggagaaaca agcaatttac cttcacctgg
      901 gaaactgatc acttcacatg ccattaataa aacccaagat cttttaaatc aaaaccattc
      961 agcaaatgct gtaagaccta attctaaaat caaggtgaaa tttgaacaga atggttcaag
     1021 taaaaattct catctggtct cccctgctgt tagtaacagt caccaaaatg ttctaagcaa
     1081 ctactttcct agagtatcat ttgccaacca aaaggctttc agaggtgtga atggatctcc
     1141 aaggataagt gtaacagttg gcaacatccc taaaaactca gtctcttcta gttctcagag
     1201 aagggtttca tcttctaaga tatccctaag aaattcttca aaagtaacgg aatcagcatc
     1261 tgtgatgcca tcccaggatg tgagtgggtc tgaagataca ttcccaaata aacgacctag
     1321 gctagaagat aagactgttt ttgacaattt ttttatcaag aaagagcaaa taaaaagcag
     1381 tggtaatgat ccaaagtata gtacaaccac agctcagaat tccagcagtt catccagtca
     1441 gagcaaaatg gttaattgcc cagtttgtca gaatgaagtt ctggagtctc agattaatga
     1501 gcacttggac tggtgccttg aaggtgacag catcaaagtc aaaagcgaag aaagtctttg
     1561 aaaaaggttt caaagtctca agtaccacct gtattatctc actaatgtgc tatgtcagcc
     1621 agtcaggaag ttctggttaa tactaagatt tgtaggttat aatctagttc acataaccaa
     1681 tagaaagtgt cctattttat atatacgcat ataagattgt aattttaaga tgttttgtgt
     1741 ctcagggtgc tacattcact cttgccttag gtatactgta acccaggttc tgcctgtcgt
     1801 gtataagttt tagatacttt tgttctttct tgctcttaag gattttaaaa acctgttaat
     1861 ctttttattt gtatactttc ctaaaaatat tcatatgggg aatcctgtca ggtgtttggt
     1921 tatattgact atttattaat agtattagaa ctcattccct gaactgatgt aaatcttcat
     1981 agtgtcagac atactgacca aaaccacaat ctagactaca aagtatattg ttttagagta
     2041 ctcaaattgt attatttatt aatttttttg tttgcaaaat cttaacagga actgtatttt
     2101 ctatatttta aagaatttta tttgtcccac ttttactaaa cagtggcagc agattttaag
     2161 ttaaagaata tggaatatag taaaataagt aaatttcttt tggaatattt ttagtaacaa
     2221 atagccacta taattctgta ggccaaattt tatattgagt ttagctgttt tctcaaaatt
     2281 tagcagagtg gttaaaattc tgtgctgata agtaactgat acatataaca taaacataac
     2341 aaagttgcct agttgatgta acagtggaaa gttatctgga aatagtattt tgaactttaa
     2401 gccaagttta aaacattata ataaaaggaa taccatttgt gcattttaag taatcttttt
     2461 taaaaaaaat attttccatg ttatagggaa aggacaaaga gacttttatc agtttgcttt
     2521 ttgtcttgtg gctgtacatg ctgttggcat agccctaaca cagttgttca caagttttct
     2581 tttttcttgt tgcaattttc cttcactttg ttgtaataca ggtgcacaaa tcttaagtgc
     2641 acagctgggt aaacttttac agtgttcacc tgtgtaacta ccacccggat caagttagag
     2701 aacacttcca ttgccacaga aggcttccta taggtgtctg ttcccagttg atacccatga
     2761 ccctcaccac ctccagaggt ccccactgtt ttcaccccat cgtcgcagat tattttttaa
     2821 ttttataatg tagtatcttt gttcctatgt atagcaggag ttcattttca ttgctcttgc
     2881 atttgtatga atatactaga atttattcat ccattctaat gttaatggac atttgaatta
     2941 tttccagttt ggggctgtta agcataatgc tgctaagaac attcttatct tttctgttgg
     3001 gtatatatac aggaatggaa ttgctgagtc acggggtata tttctgttta gctttagtaa
     3061 attctgccag tttacactcc taccagcaat gtatgagagt tttagttgtt caccattcat
     3121 aacactgtta gcagcccttt tcgttttaga ctggttggct gttcacaaat tttgatattc
     3181 cttaaagcat taaaacattt taataaatac ttataaatag gta
//
