LOCUS       NM_183381               2336 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens ring finger protein 13 (RNF13), transcript variant 4,
            mRNA.
ACCESSION   NM_183381
VERSION     NM_183381.3
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 2336)
  AUTHORS   Liu,W., Wang,Y., Liu,S., Zhang,X., Cao,X. and Jiang,M.
  TITLE     E3 Ubiquitin Ligase RNF13 Suppresses TLR Lysosomal Degradation by
            Promoting LAMP-1 Proteasomal Degradation
  JOURNAL   Adv Sci (Weinh) 11 (32), e2309560 (2024)
   PUBMED   39031743
  REMARK    GeneRIF: E3 Ubiquitin Ligase RNF13 Suppresses TLR Lysosomal
            Degradation by Promoting LAMP-1 Proteasomal Degradation.
REFERENCE   2  (bases 1 to 2336)
  AUTHORS   Taylor,A., Kashyape,P.S., Jain,R., El Naofal,M. and Tayoun,A.A.
  TITLE     Heterozygous gain of function variants in a critical region of
            RNF13 cause congenital microcephaly, epileptic encephalopathy,
            blindness, and failure to thrive
  JOURNAL   Am J Med Genet A 191 (11), 2723-2727 (2023)
   PUBMED   37668308
  REMARK    GeneRIF: Heterozygous gain of function variants in a critical
            region of RNF13 cause congenital microcephaly, epileptic
            encephalopathy, blindness, and failure to thrive.
            Review article
REFERENCE   3  (bases 1 to 2336)
  AUTHORS   Huang,D., Liu,Y., Gao,L., Wei,X., Xu,Y., Cai,R. and Su,Q.
  TITLE     MiR-32-3p Regulates Myocardial Injury Induced by Microembolism and
            Microvascular Obstruction by Targeting RNF13 to Regulate the
            Stability of Atherosclerotic Plaques
  JOURNAL   J Cardiovasc Transl Res 15 (1), 143-166 (2022)
   PUBMED   34185281
  REMARK    GeneRIF: MiR-32-3p Regulates Myocardial Injury Induced by
            Microembolism and Microvascular Obstruction by Targeting RNF13 to
            Regulate the Stability of Atherosclerotic Plaques.
REFERENCE   4  (bases 1 to 2336)
  AUTHORS   Cabana,V.C., Bouchard,A.Y., Senecal,A.M., Ghilarducci,K.,
            Kourrich,S., Cappadocia,L. and Lussier,M.P.
  TITLE     RNF13 Dileucine Motif Variants L311S and L312P Interfere with
            Endosomal Localization and AP-3 Complex Association
  JOURNAL   Cells 10 (11), 3063 (2021)
   PUBMED   34831286
  REMARK    GeneRIF: RNF13 Dileucine Motif Variants L311S and L312P Interfere
            with Endosomal Localization and AP-3 Complex Association.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2336)
  AUTHORS   Mo,Y., Wang,Y., Zhang,S., Xiong,F., Yan,Q., Jiang,X., Deng,X.,
            Wang,Y., Fan,C., Tang,L., Zhang,S., Gong,Z., Wang,F., Liao,Q.,
            Guo,C., Li,Y., Li,X., Li,G., Zeng,Z. and Xiong,W.
  TITLE     Circular RNA circRNF13 inhibits proliferation and metastasis of
            nasopharyngeal carcinoma via SUMO2
  JOURNAL   Mol Cancer 20 (1), 112 (2021)
   PUBMED   34465340
  REMARK    GeneRIF: Circular RNA circRNF13 inhibits proliferation and
            metastasis of nasopharyngeal carcinoma via SUMO2.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2336)
  AUTHORS   Zhang,Q., Meng,Y., Zhang,L., Chen,J. and Zhu,D.
  TITLE     RNF13: a novel RING-type ubiquitin ligase over-expressed in
            pancreatic cancer
  JOURNAL   Cell Res 19 (3), 348-357 (2009)
   PUBMED   18794910
  REMARK    GeneRIF: RNF13 is a novel E3 ubiquitin ligase involved in
            pancreatic carcinogenesis.
REFERENCE   7  (bases 1 to 2336)
  AUTHORS   Schroder,B., Wrocklage,C., Pan,C., Jager,R., Kosters,B.,
            Schafer,H., Elsasser,H.P., Mann,M. and Hasilik,A.
  TITLE     Integral and associated lysosomal membrane proteins
  JOURNAL   Traffic 8 (12), 1676-1686 (2007)
   PUBMED   17897319
REFERENCE   8  (bases 1 to 2336)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   9  (bases 1 to 2336)
  AUTHORS   Wesselkamper,S.C., McDowell,S.A., Medvedovic,M., Dalton,T.P.,
            Deshmukh,H.S., Sartor,M.A., Case,L.M., Henning,L.N., Borchers,M.T.,
            Tomlinson,C.R., Prows,D.R. and Leikauf,G.D.
  TITLE     The role of metallothionein in the pathogenesis of acute lung
            injury
  JOURNAL   Am J Respir Cell Mol Biol 34 (1), 73-82 (2006)
   PUBMED   16166738
  REMARK    GeneRIF: Mice lacking Mt1/2 have a rapid decrease in Rnf13 during
            acute lung injury
REFERENCE   10 (bases 1 to 2336)
  AUTHORS   Tranque,P., Crossin,K.L., Cirelli,C., Edelman,G.M. and Mauro,V.P.
  TITLE     Identification and characterization of a RING zinc finger gene
            (C-RZF) expressed in chicken embryo cells
  JOURNAL   Proc Natl Acad Sci U S A 93 (7), 3105-3109 (1996)
   PUBMED   8610176
  REMARK    GeneRIF: Cloning report of the chicken homolog
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK090638.1 and AC117395.5.
            
            On Feb 6, 2020 this sequence version replaced NM_183381.2.
            
            Summary: The protein encoded by this gene contains a RING zinc
            finger, a motif known to be involved in protein-protein
            interactions. The specific function of this gene has not yet been
            determined. Alternatively spliced transcript variants that encode
            the same protein have been reported. A pseudogene, which is also
            located on chromosome 3, has been defined for this gene. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (4) lacks an exon in the 5' UTR
            compared to variant 1. Both variants 1 and 4 encode the same
            protein.
            
            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 :: BC009781.1, AF037204.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392894.8/ ENSP00000376628.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-943               AK090638.1         508-1450
            944-2336            AC117395.5         97386-98778
FEATURES             Location/Qualifiers
     source          1..2336
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.1"
     gene            1..2336
                     /gene="RNF13"
                     /gene_synonym="DEE73; EIEE73; RZF"
                     /note="ring finger protein 13"
                     /db_xref="GeneID:11342"
                     /db_xref="HGNC:HGNC:10057"
                     /db_xref="MIM:609247"
     exon            1..139
                     /gene="RNF13"
                     /gene_synonym="DEE73; EIEE73; RZF"
                     /inference="alignment:Splign:2.1.0"
     exon            140..269
                     /gene="RNF13"
                     /gene_synonym="DEE73; EIEE73; RZF"
                     /inference="alignment:Splign:2.1.0"
     CDS             156..1301
                     /gene="RNF13"
                     /gene_synonym="DEE73; EIEE73; RZF"
                     /EC_number="2.3.2.27"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 4; RING zinc finger protein; E3 ubiquitin-protein
                     ligase RNF13; RING-type E3 ubiquitin transferase RNF13"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase RNF13 isoform 1
                     precursor"
                     /protein_id="NP_899237.1"
                     /db_xref="CCDS:CCDS3146.1"
                     /db_xref="GeneID:11342"
                     /db_xref="HGNC:HGNC:10057"
                     /db_xref="MIM:609247"
                     /translation="MLLSIGMLMLSATQVYTILTVQLFAFLNLLPVEADILAYNFENA
                     SQTFDDLPARFGYRLPAEGLKGFLINSKPENACEPIVPPPVKDNSSGTFIVLIRRLDC
                     NFDIKVLNAQRAGYKAAIVHNVDSDDLISMGSNDIEVLKKIDIPSVFIGESSANSLKD
                     EFTYEKGGHLILVPEFSLPLEYYLIPFLIIVGICLILIVIFMITKFVQDRHRARRNRL
                     RKDQLKKLPVHKFKKGDEYDVCAICLDEYEDGDKLRILPCSHAYHCKCVDPWLTKTKK
                     TCPVCKQKVVPSQGDSDSDTDSSQEENEVTEHTPLLRPLASVSAQSFGALSESRSHQN
                     MTESSDYEEDDNEDTDSSDAENEINEHDVVVQLQPNGERDYNIANTV"
     exon            270..350
                     /gene="RNF13"
                     /gene_synonym="DEE73; EIEE73; RZF"
                     /inference="alignment:Splign:2.1.0"
     exon            351..476
                     /gene="RNF13"
                     /gene_synonym="DEE73; EIEE73; RZF"
                     /inference="alignment:Splign:2.1.0"
     exon            477..564
                     /gene="RNF13"
                     /gene_synonym="DEE73; EIEE73; RZF"
                     /inference="alignment:Splign:2.1.0"
     exon            565..655
                     /gene="RNF13"
                     /gene_synonym="DEE73; EIEE73; RZF"
                     /inference="alignment:Splign:2.1.0"
     exon            656..761
                     /gene="RNF13"
                     /gene_synonym="DEE73; EIEE73; RZF"
                     /inference="alignment:Splign:2.1.0"
     exon            762..855
                     /gene="RNF13"
                     /gene_synonym="DEE73; EIEE73; RZF"
                     /inference="alignment:Splign:2.1.0"
     exon            856..936
                     /gene="RNF13"
                     /gene_synonym="DEE73; EIEE73; RZF"
                     /inference="alignment:Splign:2.1.0"
     exon            937..2336
                     /gene="RNF13"
                     /gene_synonym="DEE73; EIEE73; RZF"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2256
                     /gene="RNF13"
                     /gene_synonym="DEE73; EIEE73; RZF"
     regulatory      2303..2308
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNF13"
                     /gene_synonym="DEE73; EIEE73; RZF"
                     /note="hexamer: AATAAA"
     polyA_site      2336
                     /gene="RNF13"
                     /gene_synonym="DEE73; EIEE73; RZF"
                     /note="major polyA site"
ORIGIN      
        1 gcctaggtgt tgtcgtccct gctagtactc cgggctgtgg gggtcggtgc ggatattcag
       61 tcatgaaatc agggtaggga cttctcccgc agcgacgcgg ctggcaagac tgtttgtgtt
      121 gcgggggccg gacttcaagg tgattttaca acgagatgct gctctccata gggatgctca
      181 tgctgtcagc cacacaagtc tacaccatct tgactgtcca gctctttgca ttcttaaacc
      241 tactgcctgt agaagcagac attttagcat ataactttga aaatgcatct cagacatttg
      301 atgacctccc tgcaagattt ggttatagac ttccagctga aggtttaaag ggttttttga
      361 ttaactcaaa accagagaat gcctgtgaac ccatagtgcc tccaccagta aaagacaatt
      421 catctggcac tttcatcgtg ttaattagaa gacttgattg taattttgat ataaaggttt
      481 taaatgcaca gagagcagga tacaaggcag ccatagttca caatgttgat tctgatgacc
      541 tcattagcat gggatccaac gacattgagg tactaaagaa aattgacatt ccatctgtct
      601 ttattggtga atcatcagct aattctctga aagatgaatt cacatatgaa aaagggggcc
      661 accttatctt agttccagaa tttagtcttc ctttggaata ctacctaatt cccttcctta
      721 tcatagtggg catctgtctc atcttgatag tcattttcat gatcacaaaa tttgtccagg
      781 atagacatag agctagaaga aacagacttc gtaaagatca acttaagaaa cttcctgtac
      841 ataaattcaa gaaaggagat gagtatgatg tatgtgccat ttgtttggat gagtatgaag
      901 atggagacaa actcagaatc cttccctgtt cccatgctta tcactgcaag tgtgtagacc
      961 cttggctaac taaaaccaaa aaaacctgtc cagtgtgcaa gcaaaaagtt gttccttctc
     1021 aaggcgattc agactctgac acagacagta gtcaagaaga aaatgaagtg acagaacata
     1081 cccctttact gagaccttta gcttctgtca gtgcccagtc atttggggct ttatcggaat
     1141 cccgctcaca tcagaacatg acagaatctt cagactatga ggaagacgac aatgaagata
     1201 ctgacagtag tgatgcagaa aatgaaatta atgaacatga tgtcgtggtc cagttgcagc
     1261 ctaatggtga acgggattac aacatagcaa atactgtttg actttcagaa gatgattggt
     1321 ttatttccct ttaaaatgat taggtatata ctgtaatttg attttttgct cccttcaaag
     1381 atttctgtag aaataactta ttttttagta ttctacagtt taatcaaatt actgaaacag
     1441 gacttttgat ctggtattta tctgccaaga atatacttca ttcactaata atagactggt
     1501 gctgtaactc aagcatcaat tcagctcttc ttttggaatg aaagtatagc caaaacataa
     1561 aaaaaaaaaa atcctcagta tagcttgcaa ttaagaccta gatcacagta tttaagtgtt
     1621 ttgcgtttta tacatgaggt cagtgctaca gccacctagc atgaactaac ccagcttcca
     1681 cctccataaa gttacctaga gttgttgagt tggaatatgt tctggcattt acctgacctg
     1741 ccaatcatta gggagaggca acaaggtaat tcagcctttc ctcctatcag cacaaagaaa
     1801 ctcaaagctg ttttttccct ttctgttcca aagcagtctt atcctgacag gagcggtcta
     1861 tactagtgca gatttcaaca ctttttttta acgttttaat tactatagtg ttatgtagag
     1921 atttgattga gcagctaatg tttctgaact ttacttacta attttcagtg tccttaaggg
     1981 ttctgtagtg ttatcaaagc aaaaagaaaa tgctgcataa aaataccaaa cttcagcaac
     2041 tgttaatact cagatcatat acctcttaat aaatagcatc ttatgctaat tagccctgct
     2101 aaactatgta cagaggaaac tgttcaagta ttggatttga aagtaagtga cttatgttta
     2161 acagaactaa tgatgtattg aaacactgta ttatgaaaag ctaaattata catcattgta
     2221 actatgtaga aagtgtagac taatgtataa tcaaaatgct aaggattttt atatggcctt
     2281 gtatgagggg agtttgaatg ttaataaaca tgttttccac tttaagatcc agtaaa
//
