LOCUS       NM_030930               2294 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens unc-93 homolog B1, TLR signaling regulator (UNC93B1),
            mRNA.
ACCESSION   NM_030930
VERSION     NM_030930.4
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 2294)
  AUTHORS   David,C., Arango-Franco,C.A., Badonyi,M., Fouchet,J., Rice,G.I.,
            Didry-Barca,B., Maisonneuve,L., Seabra,L., Kechiche,R., Masson,C.,
            Cobat,A., Abel,L., Talouarn,E., Beziat,V., Deswarte,C.,
            Livingstone,K., Paul,C., Malik,G., Ross,A., Adam,J., Walsh,J.,
            Kumar,S., Bonnet,D., Bodemer,C., Bader-Meunier,B., Marsh,J.A.,
            Casanova,J.L., Crow,Y.J., Manoury,B., Fremond,M.L., Bohlen,J. and
            Lepelley,A.
  TITLE     Gain-of-function human UNC93B1 variants cause systemic lupus
            erythematosus and chilblain lupus
  JOURNAL   J Exp Med 221 (8) (2024)
   PUBMED   38869500
  REMARK    GeneRIF: Gain-of-function human UNC93B1 variants cause systemic
            lupus erythematosus and chilblain lupus.
REFERENCE   2  (bases 1 to 2294)
  AUTHORS   Rael,V.E., Yano,J.A., Huizar,J.P., Slayden,L.C., Weiss,M.A.,
            Turcotte,E.A., Terry,J.M., Zuo,W., Thiffault,I., Pastinen,T.,
            Farrow,E.G., Jenkins,J.L., Becker,M.L., Wong,S.C., Stevens,A.M.,
            Otten,C., Allenspach,E.J., Bonner,D.E., Bernstein,J.A.,
            Wheeler,M.T., Saxton,R.A., Liu,B., Majer,O. and Barton,G.M.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     Large-scale mutational analysis identifies UNC93B1 variants that
            drive TLR-mediated autoimmunity in mice and humans
  JOURNAL   J Exp Med 221 (8) (2024)
   PUBMED   38780621
  REMARK    GeneRIF: Large-scale mutational analysis identifies UNC93B1
            variants that drive TLR-mediated autoimmunity in mice and humans.
REFERENCE   3  (bases 1 to 2294)
  AUTHORS   Al-Azab,M., Idiiatullina,E., Liu,Z., Lin,M., Hrovat-Schaale,K.,
            Xian,H., Zhu,J., Yang,M., Lu,B., Zhao,Z., Liu,Y., Chang,J., Li,X.,
            Guo,C., Liu,Y., Wu,Q., Chen,J., Lan,C., Zeng,P., Cui,J., Gao,X.,
            Zhou,W., Zhang,Y., Zhang,Y. and Masters,S.L.
  TITLE     Genetic variants in UNC93B1 predispose to childhood-onset systemic
            lupus erythematosus
  JOURNAL   Nat Immunol 25 (6), 969-980 (2024)
   PUBMED   38831104
  REMARK    GeneRIF: Genetic variants in UNC93B1 predispose to childhood-onset
            systemic lupus erythematosus.
            Erratum:[Nat Immunol. 2024 Oct;25(10):1977. doi:
            10.1038/s41590-024-01969-9.. PMID: 39251802]
REFERENCE   4  (bases 1 to 2294)
  AUTHORS   Wolf,C., Lim,E.L., Mokhtari,M., Kind,B., Odainic,A.,
            Lara-Villacanas,E., Koss,S., Mages,S., Menzel,K., Engel,K.,
            Duckers,G., Bernbeck,B., Schneider,D.T., Siepermann,K., Niehues,T.,
            Goetzke,C.C., Durek,P., Minden,K., Dorner,T., Stittrich,A.,
            Szelinski,F., Guerra,G.M., Massoud,M., Bieringer,M., de Oliveira
            Mann,C.C., Beltran,E., Kallinich,T., Mashreghi,M.F., Schmidt,S.V.,
            Latz,E., Klughammer,J., Majer,O. and Lee-Kirsch,M.A.
  TITLE     UNC93B1 variants underlie TLR7-dependent autoimmunity
  JOURNAL   Sci Immunol 9 (92), eadi9769 (2024)
   PUBMED   38207055
  REMARK    GeneRIF: UNC93B1 variants underlie TLR7-dependent autoimmunity.
REFERENCE   5  (bases 1 to 2294)
  AUTHORS   Zhu,H., Zhang,R., Yi,L., Tang,Y.D. and Zheng,C.
  TITLE     UNC93B1 attenuates the cGAS-STING signaling pathway by targeting
            STING for autophagy-lysosome degradation
  JOURNAL   J Med Virol 94 (9), 4490-4501 (2022)
   PUBMED   35577759
  REMARK    GeneRIF: UNC93B1 attenuates the cGAS-STING signaling pathway by
            targeting STING for autophagy-lysosome degradation.
REFERENCE   6  (bases 1 to 2294)
  AUTHORS   Koehn,J., Huesken,D., Jaritz,M., Rot,A., Zurini,M., Dwertmann,A.,
            Beutler,B. and Korthauer,U.
  TITLE     Assessing the function of human UNC-93B in Toll-like receptor
            signaling and major histocompatibility complex II response
  JOURNAL   Hum Immunol 68 (11), 871-878 (2007)
   PUBMED   18082565
  REMARK    GeneRIF: study confirms the function of UNC-93B for innate immunity
            in human beings, and extends the knowledge for this molecule to the
            analysis of its regulation and the subcellular localization of the
            endogenous protein
REFERENCE   7  (bases 1 to 2294)
  AUTHORS   Casrouge,A., Zhang,S.Y., Eidenschenk,C., Jouanguy,E., Puel,A.,
            Yang,K., Alcais,A., Picard,C., Mahfoufi,N., Nicolas,N., Lorenzo,L.,
            Plancoulaine,S., Senechal,B., Geissmann,F., Tabeta,K., Hoebe,K.,
            Du,X., Miller,R.L., Heron,B., Mignot,C., de Villemeur,T.B.,
            Lebon,P., Dulac,O., Rozenberg,F., Beutler,B., Tardieu,M., Abel,L.
            and Casanova,J.L.
  TITLE     Herpes simplex virus encephalitis in human UNC-93B deficiency
  JOURNAL   Science 314 (5797), 308-312 (2006)
   PUBMED   16973841
  REMARK    GeneRIF: findings elucidate a genetic etiology for herpes simplex
            virus encephalitis in two children with autosomal recessive
            deficiency in the intracellular protein UNC-93B, resulting in
            impaired cellular interferon-alpha/beta and -lambda antiviral
            responses
REFERENCE   8  (bases 1 to 2294)
  AUTHORS   Taylor,T.D., Noguchi,H., Totoki,Y., Toyoda,A., Kuroki,Y., Dewar,K.,
            Lloyd,C., Itoh,T., Takeda,T., Kim,D.W., She,X., Barlow,K.F.,
            Bloom,T., Bruford,E., Chang,J.L., Cuomo,C.A., Eichler,E.,
            FitzGerald,M.G., Jaffe,D.B., LaButti,K., Nicol,R., Park,H.S.,
            Seaman,C., Sougnez,C., Yang,X., Zimmer,A.R., Zody,M.C.,
            Birren,B.W., Nusbaum,C., Fujiyama,A., Hattori,M., Rogers,J.,
            Lander,E.S. and Sakaki,Y.
  TITLE     Human chromosome 11 DNA sequence and analysis including novel gene
            identification
  JOURNAL   Nature 440 (7083), 497-500 (2006)
   PUBMED   16554811
REFERENCE   9  (bases 1 to 2294)
  AUTHORS   Arnlov,J., Sundstrom,J., Lind,L., Andren,B., Andersson,M.,
            Reneland,R., Berglund,L., Kashuba,V., Protopopov,A., Zabarovsky,E.
            and Lithell,H.
  TITLE     hUNC-93B1, a novel gene mainly expressed in the heart, is related
            to left ventricular diastolic function, heart failure morbidity and
            mortality in elderly men
  JOURNAL   Eur J Heart Fail 7 (6), 958-965 (2005)
   PUBMED   16111919
  REMARK    GeneRIF: Haplotype H3 of the hUNC-93B1 gene seems related to
            E/A-ratio in elderly men. The relationship between the hUNC-93B1
            gene and the age at onset of heart failure and mortality support a
            view of a clinically relevant impact of the gene.
REFERENCE   10 (bases 1 to 2294)
  AUTHORS   Kashuba,V.I., Protopopov,A.I., Kvasha,S.M., Gizatullin,R.Z.,
            Wahlestedt,C., Kisselev,L.L., Klein,G. and Zabarovsky,E.R.
  TITLE     hUNC93B1: a novel human gene representing a new gene family and
            encoding an unc-93-like protein
  JOURNAL   Gene 283 (1-2), 209-217 (2002)
   PUBMED   11867227
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY081711.1, BC092472.1 and
            BM969922.1.
            
            On Nov 22, 2018 this sequence version replaced NM_030930.3.
            
            Summary: This gene encodes a protein that is involved in innate and
            adaptive immune response by regulating toll-like receptor
            signaling. The encoded protein traffics nucleotide sensing
            toll-like receptors to the endolysosome from the endoplasmic
            reticulum. Deficiency of the encoded protein has been associated
            with herpes simplex encephalitis. [provided by RefSeq, Feb 2014].
            
            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 :: BC092472.1, SRR18074967.3177051.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000227471.7/ ENSP00000227471.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 HY081711.1         29-32
            5-2287              BC092472.1         1-2283
            2288-2294           BM969922.1         18-24               c
FEATURES             Location/Qualifiers
     source          1..2294
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.2"
     gene            1..2294
                     /gene="UNC93B1"
                     /gene_synonym="IIAE1; Unc-93B1; UNC93; UNC93B"
                     /note="unc-93 homolog B1, TLR signaling regulator"
                     /db_xref="GeneID:81622"
                     /db_xref="HGNC:HGNC:13481"
                     /db_xref="MIM:608204"
     exon            1..150
                     /gene="UNC93B1"
                     /gene_synonym="IIAE1; Unc-93B1; UNC93; UNC93B"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..1848
                     /gene="UNC93B1"
                     /gene_synonym="IIAE1; Unc-93B1; UNC93; UNC93B"
                     /note="unc93 homolog B1; unc-93 related protein"
                     /codon_start=1
                     /product="protein unc-93 homolog B1"
                     /protein_id="NP_112192.2"
                     /db_xref="CCDS:CCDS73334.1"
                     /db_xref="GeneID:81622"
                     /db_xref="HGNC:HGNC:13481"
                     /db_xref="MIM:608204"
                     /translation="MEAEPPLYPMAGAAGPQGDEDLLGVPDGPEAPLDELVGAYPNYN
                     EEEEERRYYRRKRLGVLKNVLAASAGGMLTYGVYLGLLQMQLILHYDETYREVKYGNM
                     GLPDIDSKMLMGINVTPIAALLYTPVLIRFFGTKWMMFLAVGIYALFVSTNYWERYYT
                     LVPSAVALGMAIVPLWASMGNYITRMAQKYHEYSHYKEQDGQGMKQRPPRGSHAPYLL
                     VFQAIFYSFFHLSFACAQLPMIYFLNHYLYDLNHTLYNVQSCGTNSHGILSGFNKTVL
                     RTLPRSGNLIVVESVLMAVAFLAMLLVLGLCGAAYRPTEEIDLRSVGWGNIFQLPFKH
                     VRDYRLRHLVPFFIYSGFEVLFACTGIALGYGVCSVGLERLAYLLVAYSLGASAASLL
                     GLLGLWLPRPVPLVAGAGVHLLLTFILFFWAPVPRVLQHSWILYVAAALWGVGSALNK
                     TGLSTLLGILYEDKERQDFIFTIYHWWQAVAIFTVYLGSSLHMKAKLAVLLVTLVAAA
                     VSYLRMEQKLRRGVAPRQPRIPRPQHKVRGYRYLEEDNSDESDAEGEHGDGAEEEAPP
                     AGPRPGPEPAGLGRRPCPYEQAQGGDGPEEQ"
     exon            151..292
                     /gene="UNC93B1"
                     /gene_synonym="IIAE1; Unc-93B1; UNC93; UNC93B"
                     /inference="alignment:Splign:2.1.0"
     exon            293..446
                     /gene="UNC93B1"
                     /gene_synonym="IIAE1; Unc-93B1; UNC93; UNC93B"
                     /inference="alignment:Splign:2.1.0"
     exon            447..608
                     /gene="UNC93B1"
                     /gene_synonym="IIAE1; Unc-93B1; UNC93; UNC93B"
                     /inference="alignment:Splign:2.1.0"
     exon            609..741
                     /gene="UNC93B1"
                     /gene_synonym="IIAE1; Unc-93B1; UNC93; UNC93B"
                     /inference="alignment:Splign:2.1.0"
     exon            742..835
                     /gene="UNC93B1"
                     /gene_synonym="IIAE1; Unc-93B1; UNC93; UNC93B"
                     /inference="alignment:Splign:2.1.0"
     exon            836..960
                     /gene="UNC93B1"
                     /gene_synonym="IIAE1; Unc-93B1; UNC93; UNC93B"
                     /inference="alignment:Splign:2.1.0"
     exon            961..1143
                     /gene="UNC93B1"
                     /gene_synonym="IIAE1; Unc-93B1; UNC93; UNC93B"
                     /inference="alignment:Splign:2.1.0"
     exon            1144..1417
                     /gene="UNC93B1"
                     /gene_synonym="IIAE1; Unc-93B1; UNC93; UNC93B"
                     /inference="alignment:Splign:2.1.0"
     exon            1418..1536
                     /gene="UNC93B1"
                     /gene_synonym="IIAE1; Unc-93B1; UNC93; UNC93B"
                     /inference="alignment:Splign:2.1.0"
     exon            1537..2294
                     /gene="UNC93B1"
                     /gene_synonym="IIAE1; Unc-93B1; UNC93; UNC93B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2269..2274
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UNC93B1"
                     /gene_synonym="IIAE1; Unc-93B1; UNC93; UNC93B"
                     /note="hexamer: AATAAA"
     polyA_site      2290
                     /gene="UNC93B1"
                     /gene_synonym="IIAE1; Unc-93B1; UNC93; UNC93B"
                     /note="major polyA site"
ORIGIN      
        1 gggcggtcgc agggactccg gggcgaccgc cgcgagtccg cagtagttcg ggccatggag
       61 gcggagccgc cgctctaccc gatggcgggg gctgcggggc cgcagggcga cgaggacctg
      121 ctcggggtcc cggacgggcc cgaggccccg ctggacgagc tggtgggcgc gtaccccaac
      181 tacaacgagg aggaggagga gcgccgctac taccgccgca agcgcctggg cgtgctcaag
      241 aacgtgctgg ctgccagcgc cgggggcatg ctcacctacg gcgtctacct gggcctcctg
      301 cagatgcagc tgatcctgca ctacgacgag acctaccgcg aggtgaagta tggcaacatg
      361 gggctgcccg acatcgacag caaaatgctg atgggcatca acgtgactcc catcgccgcc
      421 ctgctctaca cacctgtgct catcaggttt tttggaacga agtggatgat gttcctcgct
      481 gtgggcatct acgccctctt tgtctccacc aactactggg agcgctacta cacgcttgtg
      541 ccctcggctg tggccctggg catggccatc gtgcctcttt gggcttccat gggcaactac
      601 atcaccagga tggcgcagaa gtaccatgag tactcccact acaaggagca ggatgggcag
      661 gggatgaagc agcggcctcc gcggggctcc cacgcgccct atctcctggt cttccaagcc
      721 atcttctaca gcttcttcca tctgagcttc gcctgcgccc agctgcccat gatttatttc
      781 ctgaaccact acctgtatga cctgaaccac acgctgtaca atgtgcagag ctgcggcacc
      841 aacagccacg ggatcctcag cggcttcaac aagacggttc tgcggacgct cccgcggagc
      901 ggaaacctca ttgtggtgga gagcgtgctc atggcagtgg ccttcctggc catgctgctg
      961 gtgctgggtt tgtgcggagc cgcttaccgg cccacggagg agatcgatct gcgcagcgtg
     1021 ggctggggca acatcttcca gctgcccttc aagcacgtgc gtgactaccg cctgcgccac
     1081 ctcgtgcctt tctttatcta cagcggcttc gaggtgctct ttgcctgcac tggtatcgcc
     1141 ttgggctatg gcgtgtgctc ggtggggctg gagcggctgg cttacctcct cgtggcttac
     1201 agcctgggcg cctcagccgc ctcactcctg ggcctgctgg gcctgtggct gccacgcccg
     1261 gtgcccctgg tggccggagc aggggtgcac ctgctgctca ccttcatcct ctttttctgg
     1321 gcccctgtgc ctcgggtcct gcaacacagc tggatcctct atgtggcagc tgccctttgg
     1381 ggtgtgggca gtgccctgaa caagactgga ctcagcacac tcctgggaat cttgtacgaa
     1441 gacaaggaga gacaggactt catcttcacc atctaccact ggtggcaggc tgtggccatc
     1501 ttcaccgtgt acctgggctc gagcctgcac atgaaggcta agctggcggt gctgctggtg
     1561 acgctggtgg cggccgcggt ctcctacctg cggatggagc agaagctgcg ccggggcgtg
     1621 gccccgcgcc agccccgcat cccgcggccc cagcacaagg tgcgcggtta ccgctacttg
     1681 gaggaggaca actcggacga gagcgacgcg gagggcgagc atggggacgg cgcggaggag
     1741 gaggcgccgc ccgcagggcc caggcctggc cccgagcccg ctggactcgg ccgccggccc
     1801 tgcccgtacg aacaggcgca ggggggagac gggccggagg agcagtgagg ggccgcctgg
     1861 tccccggact cagcctccct cctcgccggc ctcagtttac cacgtctgag gtcgggggga
     1921 ccccctccga gtcccgcgct gtcttcaaag gcccctgtct cccctccccc acgttgggga
     1981 cgcccctccc agagcccagg tcacctccgg gcttccgcag ccccctccaa ggcggagtgg
     2041 agccttggga acccctcggc caagcacagg ggttcgaaaa tacagctgaa accccgcggg
     2101 cccttagcac gcgccccagc gccggagcac ggtcagggtc ttcttgcgac ccggcccgct
     2161 ccagatcccc acagctctcg gccgcggacc cgggccgcgt gtgagcgcac tttgcacctc
     2221 ctatccccag ggtccgccga gagccacgat tttttacaga aaatgagcaa taaagagatt
     2281 ttgtactgtc ctga
//
