LOCUS       NM_018359               2361 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens UFM1 specific peptidase 2 (UFSP2), transcript variant
            1, mRNA.
ACCESSION   NM_018359
VERSION     NM_018359.5
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 2361)
  AUTHORS   DaRosa,P.A., Penchev,I., Gumbin,S.C., Scavone,F., Wachalska,M.,
            Paulo,J.A., Ordureau,A., Peter,J.J., Kulathu,Y., Harper,J.W.,
            Becker,T., Beckmann,R. and Kopito,R.R.
  TITLE     UFM1 E3 ligase promotes recycling of 60S ribosomal subunits from
            the ER
  JOURNAL   Nature 627 (8003), 445-452 (2024)
   PUBMED   38383785
REFERENCE   2  (bases 1 to 2361)
  AUTHORS   Luo,H., Jiao,Q.B., Shen,C.B., Gong,W.Y., Yuan,J.H., Liu,Y.Y.,
            Chen,Z., Liu,J., Xu,X.L., Cong,Y.S. and Zhang,X.W.
  TITLE     UFMylation of HRD1 regulates endoplasmic reticulum homeostasis
  JOURNAL   FASEB J 37 (11), e23221 (2023)
   PUBMED   37795761
REFERENCE   3  (bases 1 to 2361)
  AUTHORS   Zhou,J., Ma,X., He,X., Chen,B., Yuan,J., Jin,Z., Li,L., Wang,Z.,
            Xiao,Q., Cai,Y., Zou,Y. and Cong,Y.S.
  TITLE     Dysregulation of PD-L1 by UFMylation imparts tumor immune evasion
            and identified as a potential therapeutic target
  JOURNAL   Proc Natl Acad Sci U S A 120 (11), e2215732120 (2023)
   PUBMED   36893266
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2023 May 23;120(21):e2306087120.
            doi: 10.1073/pnas.2306087120.. PMID: 37186868]
REFERENCE   4  (bases 1 to 2361)
  AUTHORS   Ishimura,R., El-Gowily,A.H., Noshiro,D., Komatsu-Hirota,S., Ono,Y.,
            Shindo,M., Hatta,T., Abe,M., Uemura,T., Lee-Okada,H.C.,
            Mohamed,T.M., Yokomizo,T., Ueno,T., Sakimura,K., Natsume,T.,
            Sorimachi,H., Inada,T., Waguri,S., Noda,N.N. and Komatsu,M.
  TITLE     The UFM1 system regulates ER-phagy through the ufmylation of CYB5R3
  JOURNAL   Nat Commun 13 (1), 7857 (2022)
   PUBMED   36543799
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2361)
  AUTHORS   Wang,L., Xu,Y., Rogers,H., Saidi,L., Noguchi,C.T., Li,H.,
            Yewdell,J.W., Guydosh,N.R. and Ye,Y.
  TITLE     UFMylation of RPL26 links translocation-associated quality control
            to endoplasmic reticulum protein homeostasis
  JOURNAL   Cell Res 30 (1), 5-20 (2020)
   PUBMED   31595041
REFERENCE   6  (bases 1 to 2361)
  AUTHORS   Ishimura,R., Obata,M., Kageyama,S., Daniel,J., Tanaka,K. and
            Komatsu,M.
  TITLE     A novel approach to assess the ubiquitin-fold modifier 1-system in
            cells
  JOURNAL   FEBS Lett 591 (1), 196-204 (2017)
   PUBMED   27926783
REFERENCE   7  (bases 1 to 2361)
  AUTHORS   Watson,C.M., Crinnion,L.A., Gleghorn,L., Newman,W.G., Ramesar,R.,
            Beighton,P. and Wallis,G.A.
  TITLE     Identification of a mutation in the ubiquitin-fold modifier
            1-specific peptidase 2 gene, UFSP2, in an extended South African
            family with Beukes hip dysplasia
  JOURNAL   S Afr Med J 105 (7), 558-563 (2015)
   PUBMED   26428751
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2361)
  AUTHORS   Yoo,H.M., Kang,S.H., Kim,J.Y., Lee,J.E., Seong,M.W., Lee,S.W.,
            Ka,S.H., Sou,Y.S., Komatsu,M., Tanaka,K., Lee,S.T., Noh,D.Y.,
            Baek,S.H., Jeon,Y.J. and Chung,C.H.
  TITLE     Modification of ASC1 by UFM1 is crucial for ERalpha transactivation
            and breast cancer development
  JOURNAL   Mol Cell 56 (2), 261-274 (2014)
   PUBMED   25219498
REFERENCE   9  (bases 1 to 2361)
  AUTHORS   Kang,S.H., Kim,G.R., Seong,M., Baek,S.H., Seol,J.H., Bang,O.S.,
            Ovaa,H., Tatsumi,K., Komatsu,M., Tanaka,K. and Chung,C.H.
  TITLE     Two novel ubiquitin-fold modifier 1 (Ufm1)-specific proteases,
            UfSP1 and UfSP2
  JOURNAL   J Biol Chem 282 (8), 5256-5262 (2007)
   PUBMED   17182609
REFERENCE   10 (bases 1 to 2361)
  AUTHORS   Jiang,L.Q., Wen,S.J., Wang,H.Y. and Chen,L.Y.
  TITLE     Screening the proteins that interact with calpain in a human heart
            cDNA library using a yeast two-hybrid system
  JOURNAL   Hypertens Res 25 (4), 647-652 (2002)
   PUBMED   12358155
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC106897.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 31, 2019 this sequence version replaced NM_018359.4.
            
            Summary: This gene encodes a highly conserved cysteine protease.
            The protein cleaves two C-terminal residues from ubiquitin-fold
            modifier 1, a ubiquitin-like post-translational modifier protein.
            Activation of ubiquitin-fold modifier 1 by the encoded protein
            exposes a C-terminal glycine residue that allows interaction with
            other proteins and transfer to its target protein. An allelic
            variant of this gene has been associated with Beukes hip dysplasia.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Sep 2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the functional 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 :: SRR18074969.577870.1,
                                           SRR18074968.1423294.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264689.11/ ENSP00000264689.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-99                AC106897.5         33896-33994         c
            100-178             AC106897.5         30515-30593         c
            179-362             AC106897.5         26617-26800         c
            363-429             AC106897.5         26471-26537         c
            430-587             AC106897.5         23740-23897         c
            588-780             AC106897.5         23185-23377         c
            781-927             AC106897.5         21756-21902         c
            928-1092            AC106897.5         16301-16465         c
            1093-1217           AC106897.5         15966-16090         c
            1218-1294           AC106897.5         13810-13886         c
            1295-1419           AC106897.5         11524-11648         c
            1420-2361           AC106897.5         7567-8508           c
FEATURES             Location/Qualifiers
     source          1..2361
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.1"
     gene            1..2361
                     /gene="UFSP2"
                     /gene_synonym="BHD; C4orf20; DEE106; SEMDDR"
                     /note="UFM1 specific peptidase 2"
                     /db_xref="GeneID:55325"
                     /db_xref="HGNC:HGNC:25640"
                     /db_xref="MIM:611482"
     exon            1..99
                     /gene="UFSP2"
                     /gene_synonym="BHD; C4orf20; DEE106; SEMDDR"
                     /inference="alignment:Splign:2.1.0"
     CDS             97..1506
                     /gene="UFSP2"
                     /gene_synonym="BHD; C4orf20; DEE106; SEMDDR"
                     /EC_number="3.4.22.-"
                     /codon_start=1
                     /product="ufm1-specific protease 2"
                     /protein_id="NP_060829.2"
                     /db_xref="CCDS:CCDS3842.1"
                     /db_xref="GeneID:55325"
                     /db_xref="HGNC:HGNC:25640"
                     /db_xref="MIM:611482"
                     /translation="MVISESMDILFRIRGGLDLAFQLATPNEIFLKKALKHVLSDLST
                     KLSSNALVFRICHSSVYIWPSSDINTIPGELTDASACKNILRFIQFEPEEDIKRKFMR
                     KKDKKLSDMHQIVNIDLMLEMSTSLAAVTPIIERESGGHHYVNMTLPVDAVISVAPEE
                     TWGKVRKLLVDAIHNQLTDMEKCILKYMKGTSIVVPEPLHFLLPGKKNLVTISYPSGI
                     PDGQLQAYRKELHDLFNLPHDRPYFKRSNAYHFPDEPYKDGYIRNPHTYLNPPNMETG
                     MIYVVQGIYGYHHYMQDRIDDNGWGCAYRSLQTICSWFKHQGYTERSIPTHREIQQAL
                     VDAGDKPATFVGSRQWIGSIEVQLVLNQLIGITSKILFVSQGSEIASQGRELANHFQS
                     EGTPVMIGGGVLAHTILGVAWNEITGQIKFLILDPHYTGAEDLQVILEKGWCGWKGPD
                     FWNKDAYYNLCLPQRPNMI"
     exon            100..178
                     /gene="UFSP2"
                     /gene_synonym="BHD; C4orf20; DEE106; SEMDDR"
                     /inference="alignment:Splign:2.1.0"
     exon            179..362
                     /gene="UFSP2"
                     /gene_synonym="BHD; C4orf20; DEE106; SEMDDR"
                     /inference="alignment:Splign:2.1.0"
     exon            363..429
                     /gene="UFSP2"
                     /gene_synonym="BHD; C4orf20; DEE106; SEMDDR"
                     /inference="alignment:Splign:2.1.0"
     exon            430..587
                     /gene="UFSP2"
                     /gene_synonym="BHD; C4orf20; DEE106; SEMDDR"
                     /inference="alignment:Splign:2.1.0"
     exon            588..780
                     /gene="UFSP2"
                     /gene_synonym="BHD; C4orf20; DEE106; SEMDDR"
                     /inference="alignment:Splign:2.1.0"
     exon            781..927
                     /gene="UFSP2"
                     /gene_synonym="BHD; C4orf20; DEE106; SEMDDR"
                     /inference="alignment:Splign:2.1.0"
     exon            928..1092
                     /gene="UFSP2"
                     /gene_synonym="BHD; C4orf20; DEE106; SEMDDR"
                     /inference="alignment:Splign:2.1.0"
     exon            1093..1217
                     /gene="UFSP2"
                     /gene_synonym="BHD; C4orf20; DEE106; SEMDDR"
                     /inference="alignment:Splign:2.1.0"
     exon            1218..1294
                     /gene="UFSP2"
                     /gene_synonym="BHD; C4orf20; DEE106; SEMDDR"
                     /inference="alignment:Splign:2.1.0"
     exon            1295..1419
                     /gene="UFSP2"
                     /gene_synonym="BHD; C4orf20; DEE106; SEMDDR"
                     /inference="alignment:Splign:2.1.0"
     exon            1420..2361
                     /gene="UFSP2"
                     /gene_synonym="BHD; C4orf20; DEE106; SEMDDR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1555..1560
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UFSP2"
                     /gene_synonym="BHD; C4orf20; DEE106; SEMDDR"
                     /note="hexamer: AATAAA"
     polyA_site      1586
                     /gene="UFSP2"
                     /gene_synonym="BHD; C4orf20; DEE106; SEMDDR"
                     /note="major polyA site"
     regulatory      2339..2344
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UFSP2"
                     /gene_synonym="BHD; C4orf20; DEE106; SEMDDR"
                     /note="hexamer: GATAAA"
     polyA_site      2361
                     /gene="UFSP2"
                     /gene_synonym="BHD; C4orf20; DEE106; SEMDDR"
                     /note="major polyA site"
ORIGIN      
        1 gccccgcccc tgggccgtgc ggtgacacca cttcagggcc ggcccccgga acttttgggc
       61 aggcgtcagc gcccgtgtca ccgccacgtc gcggacatgg tgatttcaga aagtatggat
      121 atactcttca gaataagagg aggccttgat ttggcttttc agctagctac tcctaatgaa
      181 atttttctca agaaggcact gaaacatgtg ttgagtgacc tgtcaactaa gctgtcttca
      241 aacgcccttg tgttcagaat ttgccacagt tcagtgtata tatggcctag cagtgacata
      301 aacaccattc ctggagaact gactgatgct tctgcttgta agaacatact gcgctttatt
      361 caatttgagc cagaagaaga tataaaaaga aaattcatga gaaagaagga caaaaagtta
      421 tcagacatgc atcaaatagt aaatatagat cttatgctgg aaatgtcaac ctccctggca
      481 gctgtaacgc ccatcattga aagggaaagc ggaggacacc attatgttaa tatgacttta
      541 cctgtcgatg cagttatatc tgttgctcca gaagaaacat ggggaaaagt tcgtaaactc
      601 ctggttgatg caattcataa tcaactaact gacatggaaa aatgtatttt gaaatatatg
      661 aaaggaacat ctattgtggt ccctgaacca ctgcactttt tattaccagg gaaaaaaaat
      721 cttgtaacaa tttcatatcc ttcaggaata ccagatggcc agctgcaggc ctataggaag
      781 gagttacatg atcttttcaa tctgcctcac gacagaccct atttcaaaag gtctaatgct
      841 tatcactttc cagatgagcc atacaaagat ggttacatta gaaatccaca tacttacctt
      901 aatccaccta acatggagac tggtatgatt tatgtggtcc agggcatata tggctatcat
      961 cattatatgc aggatcgcat agatgacaat ggctggggct gtgcttatcg atctctgcag
     1021 actatctgct cttggttcaa acatcaggga tacacagaga ggtccattcc aacacacaga
     1081 gaaattcagc aggctctagt cgatgccggg gacaaaccag caacatttgt cggatcgcgg
     1141 caatggattg gatctattga ggtgcagctg gtactaaacc aattgatcgg tataacgtca
     1201 aaaatcctgt ttgtcagcca aggttcagaa attgcctctc aaggacggga actggctaat
     1261 catttccaaa gtgaaggaac tccagttatg atcgggggag gagttttggc ccacacaata
     1321 ctaggagttg catggaatga gattacaggg cagataaagt ttctgattct agatccacat
     1381 tataccggtg ctgaagacct gcaagttatt ttggaaaagg gctggtgcgg atggaagggc
     1441 ccagattttt ggaacaagga tgcatactat aacttatgtc ttcctcagcg accaaatatg
     1501 atttaaaata tcttggagtc aaagactgca gtagagtggt attataaatt tgtgaataaa
     1561 gaatcagttt aatttttcac attaaatcct ggttctagtt tgacgattta aattatgacc
     1621 tttttcaaag gttgtaaata ctgcacggag aatgtatttt ttagacgttc ctttaataac
     1681 ttaaaagaca aagcatacac aaccagcata ttataggcat gtaaatacat gtgttcttaa
     1741 atggatcttc acttggaaga aagtttttcg tccttctcag aaggagatta gacacaacat
     1801 atggtaaagc caaaagcagg agcttataga tttgcatgaa atgaaggcgt tcttcagact
     1861 tcttcataac ccacgtgaca tctgttttta aaaacacgtt aacattaaaa actttttttt
     1921 aaaaagagtt ttatccccaa acttccacca tgcagtccca tttttggtct ctagactctg
     1981 gtaagtataa ccagtactaa aatgttaatg agaatgaaac aatactacta gaaatacgag
     2041 tgtcagtatt aaatggaata ataaatgcta tgcaaacaag agatcactgc gggaggaaaa
     2101 aagcagcagc tctgagttac ttaccagcac ttccttttcc cactggtatt ttctacactt
     2161 ccgagactcc gtttctgtct gagcacggca acacaatcat tcctgtcagg gtgttcactt
     2221 gcttttattg tctgcataca tttaattgtt gtaagaaact tggcacagtc tggaaatcca
     2281 catgaccaag cgagatcttc agctgtttgc ccgttcttat tacataaact gaaaacagga
     2341 taaaaacgga gtgaaatgaa a
//
