LOCUS       NM_030954               3764 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens ring finger protein 170 (RNF170), transcript variant
            2, mRNA.
ACCESSION   NM_030954
VERSION     NM_030954.4
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 3764)
  AUTHORS   Van Daele,S.H., Moisse,M., Race,V., Van Eesbeeck,A., Keldermans,L.,
            Vermeer,S., Van Esch,H., Claeys,K.G. and Van Damme,P.
  TITLE     RNF170 mutation causes autosomal dominant sensory ataxia with
            variable pyramidal involvement
  JOURNAL   Eur J Neurol 29 (1), 345-349 (2022)
   PUBMED   34469621
  REMARK    GeneRIF: RNF170 mutation causes autosomal dominant sensory ataxia
            with variable pyramidal involvement.
REFERENCE   2  (bases 1 to 3764)
  AUTHORS   de Sainte Agathe,J.M., Mercier,S., Mahe,J.Y., Pereon,Y.,
            Buratti,J., Tissier,L., Kol,B., Said,S.A., Leguern,E., Banneau,G.
            and Stevanin,G.
  TITLE     RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a
            Novel Mutation
  JOURNAL   Mov Disord 36 (3), 771-774 (2021)
   PUBMED   33165979
  REMARK    GeneRIF: RNF170-Related Hereditary Spastic Paraplegia: Confirmation
            by a Novel Mutation.
REFERENCE   3  (bases 1 to 3764)
  AUTHORS   Song,X., Liu,S., Wang,W., Ma,Z., Cao,X. and Jiang,M.
  TITLE     E3 ubiquitin ligase RNF170 inhibits innate immune responses by
            targeting and degrading TLR3 in murine cells
  JOURNAL   Cell Mol Immunol 17 (8), 865-874 (2020)
   PUBMED   31076723
REFERENCE   4  (bases 1 to 3764)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 3764)
  AUTHORS   Wagner,M., Osborn,D.P.S., Gehweiler,I., Nagel,M., Ulmer,U.,
            Bakhtiari,S., Amouri,R., Boostani,R., Hentati,F., Hockley,M.M.,
            Holbling,B., Schwarzmayr,T., Karimiani,E.G., Kernstock,C.,
            Maroofian,R., Muller-Felber,W., Ozkan,E., Padilla-Lopez,S.,
            Reich,S., Reichbauer,J., Darvish,H., Shahmohammadibeni,N.,
            Tafakhori,A., Vill,K., Zuchner,S., Kruer,M.C., Winkelmann,J.,
            Jamshidi,Y. and Schule,R.
  TITLE     Bi-allelic variants in RNF170 are associated with hereditary
            spastic paraplegia
  JOURNAL   Nat Commun 10 (1), 4790 (2019)
   PUBMED   31636353
  REMARK    GeneRIF: mutations in the ubiquitin E3 ligase gene RNF170, which
            targets inositol 1,4,5-trisphosphate receptors for degradation, are
            the likely cause of autosomal recessive HSP in four unrelated
            families and functionally evaluate the consequences of mutations in
            patient fibroblasts and mutant SH-SY5Y cells. Our findings
            highlight inositol 1,4,5-trisphosphate signaling as a candidate key
            pathway for hereditary spastic paraplegias.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3764)
  AUTHORS   Wright,F.A., Lu,J.P., Sliter,D.A., Dupre,N., Rouleau,G.A. and
            Wojcikiewicz,R.J.
  TITLE     A Point Mutation in the Ubiquitin Ligase RNF170 That Causes
            Autosomal Dominant Sensory Ataxia Destabilizes the Protein and
            Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+
            Signaling
  JOURNAL   J Biol Chem 290 (22), 13948-13957 (2015)
   PUBMED   25882839
  REMARK    GeneRIF: aberrant ubiquitination of substrates, or cellular
            adaptation to chronically reduced RNF170 levels likely accounts for
            the autosomal dominant sensory ataxia-associated Ca2+ signaling
            deficit
REFERENCE   7  (bases 1 to 3764)
  AUTHORS   Lu,J.P., Wang,Y., Sliter,D.A., Pearce,M.M. and Wojcikiewicz,R.J.
  TITLE     RNF170 protein, an endoplasmic reticulum membrane ubiquitin ligase,
            mediates inositol 1,4,5-trisphosphate receptor ubiquitination and
            degradation
  JOURNAL   J Biol Chem 286 (27), 24426-24433 (2011)
   PUBMED   21610068
  REMARK    GeneRIF: RNF170 plays an essential role in IP(3) receptor
            processing via the ubiquitin-proteasome pathway.
REFERENCE   8  (bases 1 to 3764)
  AUTHORS   Valdmanis,P.N., Dupre,N., Lachance,M., Stochmanski,S.J.,
            Belzil,V.V., Dion,P.A., Thiffault,I., Brais,B., Weston,L.,
            Saint-Amant,L., Samuels,M.E. and Rouleau,G.A.
  TITLE     A mutation in the RNF170 gene causes autosomal dominant sensory
            ataxia
  JOURNAL   Brain 134 (Pt 2), 602-607 (2011)
   PUBMED   21115467
  REMARK    GeneRIF: Together these results suggest that the mutation in RNF170
            is causal for the sensory ataxia
REFERENCE   9  (bases 1 to 3764)
  AUTHORS   Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   10 (bases 1 to 3764)
  AUTHORS   Valdmanis,P.N., Simoes Lopes,A.A., Gros-Louis,F., Stewart,J.D.,
            Rouleau,G.A. and Dupre,N.
  TITLE     A novel neurodegenerative disease characterised by posterior column
            ataxia and pyramidal tract involvement maps to chromosome
            8p12-8q12.1
  JOURNAL   J Med Genet 41 (8), 634-639 (2004)
   PUBMED   15286160
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK225568.1, AC087533.7 and
            AA973979.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_030954.3.
            
            Summary: This gene encodes a RING domain-containing protein that
            resides in the endoplasmic reticulum (ER) membrane. This protein
            functions as an E3 ubiquitin ligase and mediates ubiquitination and
            processing of inositol 1,4,5-trisphosphate (IP3) receptors via the
            ER-associated protein degradation pathway. It is recruited to the
            activated IP3 receptors by the ERLIN1/ERLIN2 complex to which it is
            constitutively bound. Mutations in this gene are associated with
            autosomal dominant sensory ataxia. Alternatively spliced transcript
            variants have been found for this gene. [provided by RefSeq, Jun
            2012].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same 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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.110408.1,
                                           SRR1660809.206771.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000527424.6/ ENSP00000434797.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1549              AK225568.1         15-1563
            1550-3450           AC087533.7         20679-22579
            3451-3764           AA973979.1         25-338              c
FEATURES             Location/Qualifiers
     source          1..3764
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p11.21"
     gene            1..3764
                     /gene="RNF170"
                     /gene_synonym="ADSA; SNAX1; SPG85"
                     /note="ring finger protein 170"
                     /db_xref="GeneID:81790"
                     /db_xref="HGNC:HGNC:25358"
                     /db_xref="MIM:614649"
     exon            1..122
                     /gene="RNF170"
                     /gene_synonym="ADSA; SNAX1; SPG85"
                     /inference="alignment:Splign:2.1.0"
     exon            123..266
                     /gene="RNF170"
                     /gene_synonym="ADSA; SNAX1; SPG85"
                     /inference="alignment:Splign:2.1.0"
     CDS             130..906
                     /gene="RNF170"
                     /gene_synonym="ADSA; SNAX1; SPG85"
                     /EC_number="2.3.2.27"
                     /note="isoform a is encoded by transcript variant 2;
                     putative LAG1-interacting protein; E3 ubiquitin-protein
                     ligase RNF170; RING-type E3 ubiquitin transferase RNF170"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase RNF170 isoform a"
                     /protein_id="NP_112216.3"
                     /db_xref="CCDS:CCDS6138.1"
                     /db_xref="GeneID:81790"
                     /db_xref="HGNC:HGNC:25358"
                     /db_xref="MIM:614649"
                     /translation="MAKYQGEVQSLKLDDDSVIEGVSDQVLVAVVVSFALIATLVYAL
                     FRNVHQNIHPENQELVRVLREQLQTEQDAPAATRQQFYTDMYCPICLHQASFPVETNC
                     GHLFCGACIIAYWRYGSWLGAISCPICRQTVTLLLTVFGEDDQSQDVLRLHQDINDYN
                     RRFSGQPRSIMERIMDLPTLLRHAFREMFSVGGLFWMFRIRIILCLMGAFFYLISPLD
                     FVPEALFGILGFLDDFFVIFLLLIYISIMYREVITQRLTR"
     exon            267..342
                     /gene="RNF170"
                     /gene_synonym="ADSA; SNAX1; SPG85"
                     /inference="alignment:Splign:2.1.0"
     exon            343..451
                     /gene="RNF170"
                     /gene_synonym="ADSA; SNAX1; SPG85"
                     /inference="alignment:Splign:2.1.0"
     exon            452..525
                     /gene="RNF170"
                     /gene_synonym="ADSA; SNAX1; SPG85"
                     /inference="alignment:Splign:2.1.0"
     exon            526..636
                     /gene="RNF170"
                     /gene_synonym="ADSA; SNAX1; SPG85"
                     /inference="alignment:Splign:2.1.0"
     exon            637..3764
                     /gene="RNF170"
                     /gene_synonym="ADSA; SNAX1; SPG85"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3741..3746
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RNF170"
                     /gene_synonym="ADSA; SNAX1; SPG85"
                     /note="hexamer: AATAAA"
     polyA_site      3764
                     /gene="RNF170"
                     /gene_synonym="ADSA; SNAX1; SPG85"
                     /note="major polyA site"
ORIGIN      
        1 gcactccaaa ttagaaaggg gacgtctagt gggttgcccg ggaggggtgg cgggagcggt
       61 cctggaaata atctgtcctc tgtcgccggg aactggcgag gtagttcctt cgcggtggag
      121 agacctggaa tggccaaata tcaaggtgaa gttcaaagtt tgaaactgga tgatgattca
      181 gttatagaag gagtaagcga ccaagtactt gtggcagttg tggtcagttt cgctttgatt
      241 gctaccctgg tatatgcact tttcagaaat gtacatcaaa acattcaccc agaaaaccag
      301 gagctagtaa gggtacttcg agaacagctt caaacagaac aggatgcacc tgctgccact
      361 cgacagcagt tctacactga catgtactgt cccatctgcc tgcaccaagc ctccttcccg
      421 gtggagacca actgtggaca tcttttttgt ggtgcctgca ttattgctta ctggcgatat
      481 ggttcatggc ttggggcaat cagttgtcca atctgtagac aaacggtaac cttactccta
      541 acagtatttg gtgaagatga tcagtctcag gatgttctga gattgcatca ggatattaat
      601 gattataacc ggagattctc agggcaaccc agatctatta tggagagaat tatggatcta
      661 cccactttac tgaggcatgc attcagggaa atgttttcag tcgggggcct tttctggatg
      721 tttcgcatca ggataatact ttgtttaatg ggagcttttt tctatcttat atcacctcta
      781 gattttgtac ctgaagcctt gtttggaatt ctaggctttc tagatgattt ctttgtcatc
      841 tttttattgc ttatctacat ctctattatg tatcgagaag tgataaccca aaggctaact
      901 agatgaaaaa gaaaacaaaa ctgagtttac taggatatct gagctaatgt agaacatcaa
      961 acagaaggac ccatggcagt ataaagcaat gaagcaatgg agtattatct cacaaatata
     1021 aaaccactat aagacaaaca tttgattatc atttgacaaa tacctaggta taactggaat
     1081 tttcatgttt gaagttctaa tattaagttt agaattataa tgatctacag ttgtatcttg
     1141 attctatgtt gtctggaaaa aatatggaat tatataaaaa gggatgcttt tatatatttt
     1201 tcttttcccc agaattactt agattaatta gatgtatagt aaaatattgt taaatgtcag
     1261 tttatccatc ttatccttct cagcaggtac ctatatgata atatatagct gtgaaactca
     1321 tctaaatatt tttgttccaa taaaatatta tatactattg gggaaaattc agtatttctt
     1381 ttagtgctag ctaagttttg tgcatttgga gcagttctgc cttttcattc tggtataatt
     1441 aattatttgc tatcagctga aactgaaaga agaaacttga acttcatact tcgatatcat
     1501 attctagttt acagaacaca ttttaatcaa tagaagaatt aagatgaaaa acatggccgg
     1561 gcggggtggc tcacgcctgt aatcctagca ctttgggagg ctgaggcggg tagatcacaa
     1621 ggtcaggaga tcaggaccat cctggctaac atggtgaaac cccgtctcta ctaaaaatac
     1681 aaaaaattag ccaggcgtgg tggcaggcgc ctgtagtccc agctactcgg gaggctgagg
     1741 cagaagaatg gcgtaaaccc aggaggtgga ttgcgccact gcactccagc ctgggcaaca
     1801 gagtgagact ccctctcaaa aaaaaaaaaa aaaaagatga aaaacattta tctccagtca
     1861 gcacacttga tgttcacagt tagacattta aacaagagct catcctttcg tagtagatat
     1921 aaaagtaatt tgtaaaggga agattgtttt aggaacctgg gcgatgctgc aaacacagag
     1981 tagcctgatg catttctgag gaaggtgaat cttcgtgtct ttgagcatca agccaatagg
     2041 aaggtactgg gaacggtatt tacatttgac aaaagaaatt actggttagc tatagcaaca
     2101 gattggacaa attttgttag ttttctgttg tcagaaattt ttataatact gtctcaggat
     2161 ggcagcacac agctcagatt catgtcttga gccaaacaag tgaatgtatc tgagaagact
     2221 cagtaccaca tggtactggg agatcttact cacttcagct ggcgttgctc attagtgaat
     2281 gtatgacagc aggatgtgag gggatgccca ggagtcagtg ttagcattgt catctgagat
     2341 cactgctatt aatatcatcc attaatttat tagtgagctt cactatatgc agactgggag
     2401 ataaggagaa aatctgtcac attctctcta gctaatcaga tcagctacca attaatgaga
     2461 ttctgaatga aatatcaata tgtgtttttc taatttggac ctaggacaga gctgttgctt
     2521 gtcatagaga aaaacaataa tgcttaaaca tagcacatta taattaaagc aggtttctca
     2581 catacttttc attttatcct ttggataatt ttgtgaggaa cgcaggacac caacttccct
     2641 ttcatagata caatccccat gctattgatg aaagtgtttt tgaatgaagt catacaacaa
     2701 ataactgatc aaagtggcat tacaccaaaa tttcttagta ggactcctgc atagaatgtt
     2761 tagatagacg tgaaagttgt taagaggaac agcaagagag aaactggttc tttggaagtc
     2821 tttcgtgcta cattatacct ccatcagagt aagacagctt aggcactcct aagaggaaag
     2881 gtctgtggag atgacatgaa tccgaattct acacttccaa atcaaatagg taaaagggtg
     2941 gcatacatca cagaaaaaca tttcagctgc agtcaccaac ttgaaaagcg agtgagtagg
     3001 agtttgtcac actgccatgt accagactgg aaatgcattt cctaccaatt acacatttgg
     3061 tgtgggggaa tggtgatgtc attttttgac aggattttat tttgtgtgca tgcattctgc
     3121 tccaagtgtc acaattctgg ttacaataat tataatattt ggagttacta ctaagacttt
     3181 cctgaaagag gtgtattgta ccaaattttg taacataaaa aaatactaaa tgatcttaaa
     3241 gcttcctaaa ttgtgaaaag ggtatgtgct aacatctcag aactttagac ctgcttgttg
     3301 tcatctttac cgatctctga tgataaatgc agaagggatc tgagagtttt taaagcaagt
     3361 agagtcaatc agagttttga acatcatagt aatacttccg tgattcagag ttagatcata
     3421 taaatcaaag taacaatttg gatttttttt aaacaacaat atcataactg tcataaaaca
     3481 gatggtccaa ccccaggagc agataataac ttgggcagct ctgtggggaa caagacgggg
     3541 aaaacaactg ttctaactgc ccactagaac agtggtttca actactacaa ttctcagtgt
     3601 ttgagaggta caagggaaga aaggactatg tggatccctt gtggctatgc agatacctac
     3661 ctcacagagt tgttgtagaa gactggtggt ttggttcaaa ccttgtgatt aaagagtttg
     3721 tcaagcattt tattcttttg aataaaagca acatatctaa aaca
//
