LOCUS       NM_022464               1889 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens SIL1 nucleotide exchange factor (SIL1), transcript
            variant 2, mRNA.
ACCESSION   NM_022464
VERSION     NM_022464.5
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 1889)
  AUTHORS   Faheem,A., Masud,R., Nasir,R., Awan,Z.K., Nasir,H.A., Khan,Z.K.,
            Fayyaz,H. and Raza,S.I.
  TITLE     Exome sequencing revealed variants in SGCA and SIL1 genes
            underlying limb girdle muscular dystrophy and Marinesco-Sjogren
            syndrome patients
  JOURNAL   Mol Biol Rep 51 (1), 853 (2024)
   PUBMED   39060875
  REMARK    GeneRIF: Exome sequencing revealed variants in SGCA and SIL1 genes
            underlying limb girdle muscular dystrophy and Marinesco-Sjogren
            syndrome patients.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1889)
  AUTHORS   Anvarnia,A., Panahizadeh,R., Zarredar,H., Asadi,M., Hashemzadeh,S.,
            Vatankhah,M.A., Valizadeh,H. and Raeisi,M.
  TITLE     Down-regulation and Clinic-pathological Correlation of SIK-1 and
            SIK-1-LNC in Non-small Cell Lung Cancer Patients
  JOURNAL   Asian Pac J Cancer Prev 24 (4), 1407-1411 (2023)
   PUBMED   37116165
  REMARK    GeneRIF: Down-Regulation and Clinic-Pathological Correlation of
            SIK-1 and SIL-1-LNC in Non-Small Cell Lung Cancer Patients.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1889)
  AUTHORS   Potenza,F., Cufaro,M.C., Di Biase,L., Panella,V., Di Campli,A.,
            Ruggieri,A.G., Dufrusine,B., Restelli,E., Pietrangelo,L.,
            Protasi,F., Pieragostino,D., De Laurenzi,V., Federici,L., Chiesa,R.
            and Sallese,M.
  TITLE     Proteomic Analysis of Marinesco-Sjogren Syndrome Fibroblasts
            Indicates Pro-Survival Metabolic Adaptation to SIL1 Loss
  JOURNAL   Int J Mol Sci 22 (22), 12449 (2021)
   PUBMED   34830330
  REMARK    GeneRIF: Proteomic Analysis of Marinesco-Sjogren Syndrome
            Fibroblasts Indicates Pro-Survival Metabolic Adaptation to SIL1
            Loss.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1889)
  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 1889)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   6  (bases 1 to 1889)
  AUTHORS   Chung,K.T., Shen,Y. and Hendershot,L.M.
  TITLE     BAP, a mammalian BiP-associated protein, is a nucleotide exchange
            factor that regulates the ATPase activity of BiP
  JOURNAL   J Biol Chem 277 (49), 47557-47563 (2002)
   PUBMED   12356756
  REMARK    GeneRIF: BAP serves as a nucleotide exchange factor for BiP
REFERENCE   7  (bases 1 to 1889)
  AUTHORS   Tyson,J.R. and Stirling,C.J.
  TITLE     LHS1 and SIL1 provide a lumenal function that is essential for
            protein translocation into the endoplasmic reticulum
  JOURNAL   EMBO J 19 (23), 6440-6452 (2000)
   PUBMED   11101517
REFERENCE   8  (bases 1 to 1889)
  AUTHORS   Anttonen,A.K.
  TITLE     Marinesco-Sjogren Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301371
REFERENCE   9  (bases 1 to 1889)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
REFERENCE   10 (bases 1 to 1889)
  AUTHORS   Keats,B., Ott,J. and Conneally,M.
  TITLE     Report of the committee on linkage and gene order
  JOURNAL   Cytogenet Cell Genet 51 (1-4), 459-502 (1989)
   PUBMED   2791656
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK074624.1, BC011568.1,
            CD369479.1 and CA415266.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_022464.4.
            
            Summary: This gene encodes a resident endoplasmic reticulum (ER),
            N-linked glycoprotein with an N-terminal ER targeting sequence, 2
            putative N-glycosylation sites, and a C-terminal ER retention
            signal. This protein functions as a nucleotide exchange factor for
            another unfolded protein response protein. Mutations in this gene
            have been associated with Marinesco-Sjogren syndrome. Alternate
            transcriptional splice variants have been characterized. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks an exon in the 5'UTR
            compared to variant 1. Variants 1 and 2 encode the same 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 :: AK074624.1, AF547994.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394817.7/ ENSP00000378294.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-278               AK074624.1         1-278
            279-1624            BC011568.1         255-1600
            1625-1869           CD369479.1         38-282              c
            1870-1889           CA415266.1         18-37               c
FEATURES             Location/Qualifiers
     source          1..1889
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.2"
     gene            1..1889
                     /gene="SIL1"
                     /gene_synonym="BAP; MSS; ULG5"
                     /note="SIL1 nucleotide exchange factor"
                     /db_xref="GeneID:64374"
                     /db_xref="HGNC:HGNC:24624"
                     /db_xref="MIM:608005"
     exon            1..100
                     /gene="SIL1"
                     /gene_synonym="BAP; MSS; ULG5"
                     /inference="alignment:Splign:2.1.0"
     exon            101..215
                     /gene="SIL1"
                     /gene_synonym="BAP; MSS; ULG5"
                     /inference="alignment:Splign:2.1.0"
     CDS             111..1496
                     /gene="SIL1"
                     /gene_synonym="BAP; MSS; ULG5"
                     /note="BiP-associated protein; nucleotide exchange factor
                     SIL1; SIL1 homolog, endoplasmic reticulum chaperone;
                     SIL1-like protein endoplasmic reticulum chaperone"
                     /codon_start=1
                     /product="nucleotide exchange factor SIL1 precursor"
                     /protein_id="NP_071909.1"
                     /db_xref="CCDS:CCDS4209.1"
                     /db_xref="GeneID:64374"
                     /db_xref="HGNC:HGNC:24624"
                     /db_xref="MIM:608005"
                     /translation="MAPQSLPSSRMAPLGMLLGLLMAACFTFCLSHQNLKEFALTNPE
                     KSSTKETERKETKAEEELDAEVLEVFHPTHEWQALQPGQAVPAGSHVRLNLQTGEREA
                     KLQYEDKFRNNLKGKRLDINTNTYTSQDLKSALAKFKEGAEMESSKEDKARQAEVKRL
                     FRPIEELKKDFDELNVVIETDMQIMVRLINKFNSSSSSLEEKIAALFDLEYYVHQMDN
                     AQDLLSFGGLQVVINGLNSTEPLVKEYAAFVLGAAFSSNPKVQVEAIEGGALQKLLVI
                     LATEQPLTAKKKVLFALCSLLRHFPYAQRQFLKLGGLQVLRTLVQEKGTEVLAVRVVT
                     LLYDLVTEKMFAEEEAELTQEMSPEKLQQYRQVHLLPGLWEQGWCEITAHLLALPEHD
                     AREKVLQTLGVLLTTCRDRYRQDPQLGRTLASLQAEYQVLASLELQDGEDEGYFQELL
                     GSVNSLLKELR"
     exon            216..354
                     /gene="SIL1"
                     /gene_synonym="BAP; MSS; ULG5"
                     /inference="alignment:Splign:2.1.0"
     exon            355..463
                     /gene="SIL1"
                     /gene_synonym="BAP; MSS; ULG5"
                     /inference="alignment:Splign:2.1.0"
     exon            464..563
                     /gene="SIL1"
                     /gene_synonym="BAP; MSS; ULG5"
                     /inference="alignment:Splign:2.1.0"
     exon            564..755
                     /gene="SIL1"
                     /gene_synonym="BAP; MSS; ULG5"
                     /inference="alignment:Splign:2.1.0"
     exon            756..877
                     /gene="SIL1"
                     /gene_synonym="BAP; MSS; ULG5"
                     /inference="alignment:Splign:2.1.0"
     exon            878..974
                     /gene="SIL1"
                     /gene_synonym="BAP; MSS; ULG5"
                     /inference="alignment:Splign:2.1.0"
     exon            975..1139
                     /gene="SIL1"
                     /gene_synonym="BAP; MSS; ULG5"
                     /inference="alignment:Splign:2.1.0"
     exon            1140..1889
                     /gene="SIL1"
                     /gene_synonym="BAP; MSS; ULG5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1602..1607
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SIL1"
                     /gene_synonym="BAP; MSS; ULG5"
                     /note="hexamer: ATTAAA"
     polyA_site      1624
                     /gene="SIL1"
                     /gene_synonym="BAP; MSS; ULG5"
                     /note="major polyA site"
     regulatory      1868..1873
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SIL1"
                     /gene_synonym="BAP; MSS; ULG5"
                     /note="hexamer: ATTAAA"
     polyA_site      1889
                     /gene="SIL1"
                     /gene_synonym="BAP; MSS; ULG5"
ORIGIN      
        1 agacggtcgc cgccgcgttt gcgcaggggg agctggtcgc cgccgcggcc gcctggaatt
       61 gtgggagttg tgtctgccac tcggctgccg gaggccgaag gtccctgact atggctcccc
      121 agagcctgcc ttcatctagg atggctcctc tgggcatgct gcttgggctg ctgatggccg
      181 cctgcttcac cttctgcctc agtcatcaga acctgaagga gtttgccctg accaacccag
      241 agaagagcag caccaaagaa acagagagaa aagaaaccaa agccgaggag gagctggatg
      301 ccgaagtcct ggaggtgttc cacccgacgc atgagtggca ggcccttcag ccagggcagg
      361 ctgtccctgc aggatcccac gtacggctga atcttcagac tggggaaaga gaggcaaaac
      421 tccaatatga ggacaagttc cgaaataatt tgaaaggcaa aaggctggat atcaacacca
      481 acacctacac atctcaggat ctcaagagtg cactggcaaa attcaaggag ggggcagaga
      541 tggagagttc aaaggaagac aaggcaaggc aggctgaggt aaagcggctc ttccgcccca
      601 ttgaggaact gaagaaagac tttgatgagc tgaatgttgt cattgagact gacatgcaga
      661 tcatggtacg gctgatcaac aagttcaata gttccagctc cagtttggaa gagaagattg
      721 ctgcgctctt tgatcttgaa tattatgtcc atcagatgga caatgcgcag gacctgcttt
      781 cctttggtgg tcttcaagtg gtgatcaatg ggctgaacag cacagagccc ctcgtgaagg
      841 agtatgctgc gtttgtgctg ggcgctgcct tttccagcaa ccccaaggtc caggtggagg
      901 ccatcgaagg gggagccctg cagaagctgc tggtcatcct ggccacggag cagccgctca
      961 ctgcaaagaa gaaggtcctg tttgcactgt gctccctgct gcgccacttc ccctatgccc
     1021 agcggcagtt cctgaagctc ggggggctgc aggtcctgag gaccctggtg caggagaagg
     1081 gcacggaggt gctcgccgtg cgcgtggtca cactgctcta cgacctggtc acggagaaga
     1141 tgttcgccga ggaggaggct gagctgaccc aggagatgtc cccagagaag ctgcagcagt
     1201 atcgccaggt acacctcctg ccaggcctgt gggaacaggg ctggtgcgag atcacggccc
     1261 acctcctggc gctgcccgag catgatgccc gtgagaaggt gctgcagaca ctgggcgtcc
     1321 tcctgaccac ctgccgggac cgctaccgtc aggaccccca gctcggcagg acactggcca
     1381 gcctgcaggc tgagtaccag gtgctggcca gcctggagct gcaggatggt gaggacgagg
     1441 gctacttcca ggagctgctg ggctctgtca acagcttgct gaaggagctg agatgaggcc
     1501 ccacaccagg actggactgg gatgccgcta gtgaggctga ggggtgccag cgtgggtggg
     1561 cttctcaggc aggaggacat cttggcagtg ctggcttggc cattaaatgg aaacctgaag
     1621 gccatcctct ttctgctgtg tgtctgtgta gactgggcac agccctgtgg ccggggggtc
     1681 aggtgagtgg ttgggtgatg ggctctgctg acgtgcaggg ctcagcccag ggcatccagg
     1741 aacaggctcc agggcaggaa cctgggccca ggagttgcaa gtctctgctt cttaccaagc
     1801 agcagctctg taccttggga agtcgcttaa ttgctctgag cttgtttcct catctgtcag
     1861 gagtgccatt aaaggagaaa aatcacgta
//
