LOCUS       NM_005659               1791 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens ubiquitin recognition factor in ER associated
            degradation 1 (UFD1), transcript variant 1, mRNA.
ACCESSION   NM_005659
VERSION     NM_005659.7
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 1791)
  AUTHORS   Nguyen,T.Q., My Le,L.T., Kim,D.H., Ko,K.S., Lee,H.T., Kim
            Nguyen,Y.T., Kim,H.S., Han,B.W., Kang,W. and Yang,J.K.
  TITLE     Structural basis for the interaction between human Npl4 and
            Npl4-binding motif of human Ufd1
  JOURNAL   Structure 30 (11), 1530-1537 (2022)
   PUBMED   36087575
  REMARK    GeneRIF: Structural basis for the interaction between human Npl4
            and Npl4-binding motif of human Ufd1.
REFERENCE   2  (bases 1 to 1791)
  AUTHORS   Fujisawa,R., Polo Rivera,C. and Labib,K.P.M.
  TITLE     Multiple UBX proteins reduce the ubiquitin threshold of the
            mammalian p97-UFD1-NPL4 unfoldase
  JOURNAL   Elife 11, e76763 (2022)
   PUBMED   35920641
  REMARK    GeneRIF: Multiple UBX proteins reduce the ubiquitin threshold of
            the mammalian p97-UFD1-NPL4 unfoldase.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1791)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   4  (bases 1 to 1791)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 1791)
  AUTHORS   Amati,F., Condo,I., Conti,E., Sangiuolo,F., Dallapiccola,B.,
            Testi,R. and Novelli,G.
  TITLE     Analysis of intracellular distribution and apoptosis involvement of
            the Ufd1l gene product by over-expression studies
  JOURNAL   Cell Biochem Funct 21 (3), 263-267 (2003)
   PUBMED   12910480
  REMARK    GeneRIF: Ufd1l is localized around the nucleus and it does not
            interfere with Fas-and ceramide-mediated apoptosis.
REFERENCE   6  (bases 1 to 1791)
  AUTHORS   Amati,F., Conti,E., Botta,A., Amicucci,P., Dallapiccola,B. and
            Novelli,G.
  TITLE     Functional characterization of the 5' flanking region of human
            ubiquitin fusion degradation 1 like gene (UFD1L)
  JOURNAL   Cell Biochem Funct 20 (2), 163-170 (2002)
   PUBMED   11979512
  REMARK    GeneRIF: a functional analysis of its 5' regulatory region
REFERENCE   7  (bases 1 to 1791)
  AUTHORS   Botta,A., Tandoi,C., Fini,G., Calabrese,G., Dallapiccola,B. and
            Novelli,G.
  TITLE     Cloning and characterization of the gene encoding human NPL4, a
            protein interacting with the ubiquitin fusion-degradation protein
            (UFD1L)
  JOURNAL   Gene 275 (1), 39-46 (2001)
   PUBMED   11574150
REFERENCE   8  (bases 1 to 1791)
  AUTHORS   Yamagishi,H., Garg,V., Matsuoka,R., Thomas,T. and Srivastava,D.
  TITLE     A molecular pathway revealing a genetic basis for human cardiac and
            craniofacial defects
  JOURNAL   Science 283 (5405), 1158-1161 (1999)
   PUBMED   10024240
REFERENCE   9  (bases 1 to 1791)
  AUTHORS   Novelli,G., Mari,A., Amati,F., Colosimo,A., Sangiuolo,F.,
            Bengala,M., Conti,E., Ratti,A., Bordoni,R., Pizzuti,A., Baldini,A.,
            Crinelli,R., Pandolfi,F., Magnani,M. and Dallapiccola,B.
  TITLE     Structure and expression of the human ubiquitin fusion-degradation
            gene (UFD1L)
  JOURNAL   Biochim Biophys Acta 1396 (2), 158-162 (1998)
   PUBMED   9540831
REFERENCE   10 (bases 1 to 1791)
  AUTHORS   Pizzuti,A., Novelli,G., Ratti,A., Amati,F., Mari,A., Calabrese,G.,
            Nicolis,S., Silani,V., Marino,B., Scarlato,G., Ottolenghi,S. and
            Dallapiccola,B.
  TITLE     UFD1L, a developmentally expressed ubiquitination gene, is deleted
            in CATCH 22 syndrome
  JOURNAL   Hum Mol Genet 6 (2), 259-265 (1997)
   PUBMED   9063746
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB128364.1, BC005087.1,
            AW131352.1, DB570679.1 and AC000068.2.
            
            On Nov 22, 2018 this sequence version replaced NM_005659.6.
            
            Summary: The protein encoded by this gene forms a complex with two
            other proteins, nuclear protein localization-4 and
            valosin-containing protein, and this complex is necessary for the
            degradation of ubiquitinated proteins. In addition, this complex
            controls the disassembly of the mitotic spindle and the formation
            of a closed nuclear envelope after mitosis. Mutations in this gene
            have been associated with Catch 22 syndrome as well as cardiac and
            craniofacial defects. Alternative splicing results in multiple
            transcript variants encoding different isoforms. A related
            pseudogene has been identified on chromosome 18. [provided by
            RefSeq, Jun 2009].
            
            Transcript Variant: This variant (1)encodes the longest isoform
            (A).
            
            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 :: SRR3476690.418012.1,
                                           SRR5189661.75661.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263202.15/ ENSP00000263202.9
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                CB128364.1         23-52
            31-1081             BC005087.1         1-1051
            1082-1386           AW131352.1         5-309               c
            1387-1761           DB570679.1         47-421
            1762-1791           AC000068.2         29674-29703         c
FEATURES             Location/Qualifiers
     source          1..1791
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..1791
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
                     /note="ubiquitin recognition factor in ER associated
                     degradation 1"
                     /db_xref="GeneID:7353"
                     /db_xref="HGNC:HGNC:12520"
                     /db_xref="MIM:601754"
     exon            1..111
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
                     /inference="alignment:Splign:2.1.0"
     CDS             109..1032
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
                     /note="isoform A is encoded by transcript variant 1; UB
                     fusion protein 1; ubiquitin fusion degradation protein 1
                     homolog; ubiquitin fusion degradation 1 like; ubiquitin
                     recognition factor in ER-associated degradation protein 1"
                     /codon_start=1
                     /product="ubiquitin recognition factor in ER-associated
                     degradation protein 1 isoform A"
                     /protein_id="NP_005650.2"
                     /db_xref="CCDS:CCDS13761.1"
                     /db_xref="GeneID:7353"
                     /db_xref="HGNC:HGNC:12520"
                     /db_xref="MIM:601754"
                     /translation="MFSFNMFDHPIPRVFQNRFSTQYRCFSVSMLAGPNDRSDVEKGG
                     KIIMPPSALDQLSRLNITYPMLFKLTNKNSDRMTHCGVLEFVADEGICYLPHWMMQNL
                     LLEEGGLVQVESVNLQVATYSKFQPQSPDFLDITNPKAVLENALRNFACLTTGDVIAI
                     NYNEKIYELRVMETKPDKAVSIIECDMNVDFDAPLGYKEPERQVQHEESTEGEADHSG
                     YAGELGFRAFSGSGNRLDGKKKGVEPSPSPIKPGDIKRGIPNYEFKLGKITFIRNSRP
                     LVKKVEEDEAGGRFVAFSGEGQSLRKKGRKP"
     exon            112..244
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
                     /inference="alignment:Splign:2.1.0"
     exon            245..277
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
                     /inference="alignment:Splign:2.1.0"
     exon            278..399
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
                     /inference="alignment:Splign:2.1.0"
     exon            400..530
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
                     /inference="alignment:Splign:2.1.0"
     exon            531..603
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
                     /inference="alignment:Splign:2.1.0"
     exon            604..672
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
                     /inference="alignment:Splign:2.1.0"
     exon            673..738
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
                     /inference="alignment:Splign:2.1.0"
     exon            739..786
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
                     /inference="alignment:Splign:2.1.0"
     exon            787..875
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
                     /inference="alignment:Splign:2.1.0"
     exon            876..957
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
                     /inference="alignment:Splign:2.1.0"
     exon            958..1791
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1060..1065
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
                     /note="hexamer: AATAAA"
     polyA_site      1081
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
                     /note="major polyA site"
     regulatory      1367..1372
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
                     /note="hexamer: ACTAAA"
     polyA_site      1386
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
     regulatory      1773..1778
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
                     /note="hexamer: ATTAAA"
     polyA_site      1791
                     /gene="UFD1"
                     /gene_synonym="UFD1L"
ORIGIN      
        1 gtaccggctt ggcgcggcgg cagcggcagc ggcggctggg agagcggtcg gcggggtttc
       61 ttcgttgcat tgcctgagag gagcggagtc tgccaggtgg tgtccatcat gttctctttc
      121 aacatgttcg accaccctat tcccagggtc ttccaaaacc gcttctccac acagtaccgc
      181 tgcttctctg tgtccatgct agcagggcct aatgacaggt cagatgtgga gaaaggaggg
      241 aagataatta tgccaccctc ggccctggac caactcagcc gacttaacat tacctatccc
      301 atgctgttca aactgaccaa taagaattcg gaccgcatga cgcattgtgg cgtgctggag
      361 tttgtggctg atgagggcat ctgctacctc ccacactgga tgatgcagaa cttactcttg
      421 gaagaaggcg gcctggtcca ggtggagagc gtcaaccttc aagtggccac ctactccaaa
      481 ttccaacctc agagccctga cttcctggac atcaccaacc ccaaagccgt attagaaaac
      541 gcacttagga actttgcctg tctgaccacc ggggatgtga ttgccatcaa ctataatgaa
      601 aagatctacg aactgcgtgt gatggagacc aaacccgaca aggcagtgtc catcattgag
      661 tgtgacatga acgtggactt tgatgctccc ctgggctaca aagaacccga aagacaagtc
      721 cagcatgagg agtcgacaga aggtgaagcc gaccacagtg gctatgctgg agagctgggc
      781 ttccgcgctt tctctggatc tggcaataga ctggatggaa agaagaaagg ggtagagccc
      841 agcccctccc caatcaagcc tggagatatt aaaagaggaa ttcccaatta tgaatttaaa
      901 cttggtaaga taactttcat cagaaattca cgtccccttg tcaaaaaggt tgaagaggat
      961 gaagctggag gcagattcgt cgctttctct ggagaaggac agtcattgcg taaaaaggga
     1021 agaaagccct aagtgaggac tgttggctga ttggaaaata ataaaagaat catttgcaac
     1081 atcttggctt ttagttactg gcactgacag ggacgagcct catcagagaa tactctgtta
     1141 cttaagattt atttagagtt acctaagaat tattaagttt gacttggaag tggagcagca
     1201 ggactttgta gttgtatgct tgatttgggg aaagacaaag agctgtccct gagggcctgt
     1261 agatagctgc ctcctcacct cttcacgctt tcagcttgag gggagctccc actgcctcag
     1321 caggagcaat tctgcatccc taattctgtc aaaacctatg aaggtgacta aattgtctaa
     1381 catgaagtgt tctttctttt tcttcattta tcctttcttt tcctacatca attgcatagg
     1441 tgtcagtctt tggcctaaaa aaaggcttta aatagacatg tgttctataa gtagtggctg
     1501 tcccactact gtggctgcaa tttaagtatt tgacaaagaa tgtttctatt tttattttac
     1561 atattttttt caaaaacacc actcagaaga acctgatctg aatgagtttg cacttttatt
     1621 ctcatttcat atggacataa ctggctcctt agtgaacctg ttcatagtga aacaactcca
     1681 tggagaagca aacatgtgaa tgttagaatg aacaaatgct aaagagatgt tcctctcctt
     1741 cttccctact ccccaactcc caattttaat ttattaaatc atccaagctt c
//
