LOCUS       NM_001122955            1710 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens BSCL2 lipid droplet biogenesis associated, seipin
            (BSCL2), transcript variant 1, mRNA.
ACCESSION   NM_001122955
VERSION     NM_001122955.4
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 1710)
  AUTHORS   Guo,D., Hu,L., Xie,P., Sun,P. and Yu,W.
  TITLE     Seipin is involved in oxygen-glucose deprivation/reoxygenation
            induced neuroinflammation by regulating the TLR3/TRAF3/NF-kappaB
            pathway
  JOURNAL   Int Immunopharmacol 134, 112182 (2024)
   PUBMED   38703568
  REMARK    GeneRIF: Seipin is involved in oxygen-glucose
            deprivation/reoxygenation induced neuroinflammation by regulating
            the TLR3/TRAF3/NF-kappaB pathway.
REFERENCE   2  (bases 1 to 1710)
  AUTHORS   Zhu,X., An,X., Chen,M., Guo,D., Xie,P., Wang,B., Huang,Z. and Yu,W.
  TITLE     Seipin overexpression attenuates cerebral ischemia-reperfusion
            injury via preventing apoptosis and autophagy
  JOURNAL   Brain Behav 13 (12), e3195 (2023)
   PUBMED   37897134
  REMARK    GeneRIF: Seipin overexpression attenuates cerebral
            ischemia-reperfusion injury via preventing apoptosis and autophagy.
REFERENCE   3  (bases 1 to 1710)
  AUTHORS   Weterman,M.A.J., Bronk,M., Jongejan,A., Hoogendijk,J.E., Krudde,J.,
            Karjosukarso,D., Goebel,H.H., Aronica,E., Jobsis,G.J., van
            Ruissen,F., van Spaendonck-Zwarts,K.Y., de Visser,M. and Baas,F.
  TITLE     Pathogenic variants in three families with distal muscle
            involvement
  JOURNAL   Neuromuscul Disord 33 (1), 58-64 (2023)
   PUBMED   36539320
  REMARK    GeneRIF: Pathogenic variants in three families with distal muscle
            involvement.
REFERENCE   4  (bases 1 to 1710)
  AUTHORS   Windpassinger,C., Auer-Grumbach,M., Irobi,J., Patel,H., Petek,E.,
            Horl,G., Malli,R., Reed,J.A., Dierick,I., Verpoorten,N.,
            Warner,T.T., Proukakis,C., Van den Bergh,P., Verellen,C., Van
            Maldergem,L., Merlini,L., De Jonghe,P., Timmerman,V., Crosby,A.H.
            and Wagner,K.
  TITLE     Heterozygous missense mutations in BSCL2 are associated with distal
            hereditary motor neuropathy and Silver syndrome
  JOURNAL   Nat Genet 36 (3), 271-276 (2004)
   PUBMED   14981520
  REMARK    GeneRIF: Heterozygous missense mutations in BSCL2 are associated
            with distal hereditary motor neuropathy and Silver syndrome.
            GeneRIF: seipin is an integral membrane protein of the endoplasmic
            reticulum (ER)
REFERENCE   5  (bases 1 to 1710)
  AUTHORS   Simha,V. and Garg,A.
  TITLE     Phenotypic heterogeneity in body fat distribution in patients with
            congenital generalized lipodystrophy caused by mutations in the
            AGPAT2 or seipin genes
  JOURNAL   J Clin Endocrinol Metab 88 (11), 5433-5437 (2003)
   PUBMED   14602785
  REMARK    GeneRIF: Congenital lipodystrophy patients with Seipin mutations
            have a more severe lack of body fat, which affects both
            metabolically active and mechanical adipose tissue, compared with
            patients with mutations in the AGPAT2 gene.
REFERENCE   6  (bases 1 to 1710)
  AUTHORS   Magre,J., Delepine,M., Khallouf,E., Gedde-Dahl,T. Jr., Van
            Maldergem,L., Sobel,E., Papp,J., Meier,M., Megarbane,A., Bachy,A.,
            Verloes,A., d'Abronzo,F.H., Seemanova,E., Assan,R., Baudic,N.,
            Bourut,C., Czernichow,P., Huet,F., Grigorescu,F., de Kerdanet,M.,
            Lacombe,D., Labrune,P., Lanza,M., Loret,H., Matsuda,F., Navarro,J.,
            Nivelon-Chevalier,A., Polak,M., Robert,J.J., Tric,P.,
            Tubiana-Rufi,N., Vigouroux,C., Weissenbach,J., Savasta,S.,
            Maassen,J.A., Trygstad,O., Bogalho,P., Freitas,P., Medina,J.L.,
            Bonnicci,F., Joffe,B.I., Loyson,G., Panz,V.R., Raal,F.J.,
            O'Rahilly,S., Stephenson,T., Kahn,C.R., Lathrop,M. and Capeau,J.
  CONSRTM   BSCL Working Group
  TITLE     Identification of the gene altered in Berardinelli-Seip congenital
            lipodystrophy on chromosome 11q13
  JOURNAL   Nat Genet 28 (4), 365-370 (2001)
   PUBMED   11479539
  REMARK    GeneRIF: Alterations in BSCL2 (seipin gene) are responsible for
            BSCL (OMIM :606158).Predicted human seipin protein sequence.
REFERENCE   7  (bases 1 to 1710)
  AUTHORS   Patel,H., Hart,P.E., Warner,T.T., Houlston,R.S., Patton,M.A.,
            Jeffery,S. and Crosby,A.H.
  TITLE     The Silver syndrome variant of hereditary spastic paraplegia maps
            to chromosome 11q12-q14, with evidence for genetic heterogeneity
            within this subtype
  JOURNAL   Am J Hum Genet 69 (1), 209-215 (2001)
   PUBMED   11389484
REFERENCE   8  (bases 1 to 1710)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   9  (bases 1 to 1710)
  AUTHORS   Ito,D.
  TITLE     BSCL2-Related Neurologic Disorders / Seipinopathy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301484
REFERENCE   10 (bases 1 to 1710)
  AUTHORS   Van Maldergem,L.
  TITLE     Berardinelli-Seip Congenital Lipodystrophy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301391
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP001458.6 and AF052149.1.
            
            On Aug 5, 2020 this sequence version replaced NM_001122955.3.
            
            Summary: This gene encodes the multi-pass transmembrane protein
            seipin. This protein localizes to the endoplasmic reticulum and may
            be important for lipid droplet morphology. Mutations in this gene
            have been associated with congenital generalized lipodystrophy type
            2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease
            characterized by a near absence of adipose tissue and severe
            insulin resistance. Alternatively spliced transcript variants
            encoding different isoforms have been found for this gene.
            Naturally occurring read-through transcription occurs between this
            locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear
            ribonucleoprotein U-like 2).[provided by RefSeq, Jul 2024].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: AF052149.1, AK223606.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360796.10/ ENSP00000354032.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-77                AP001458.6         114615-114691       c
            78-1710             AF052149.1         1-1633
FEATURES             Location/Qualifiers
     source          1..1710
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.3"
     gene            1..1710
                     /gene="BSCL2"
                     /gene_synonym="GNG3LG; HMN5; HMN5C; HMND13; PELD; SPG17"
                     /note="BSCL2 lipid droplet biogenesis associated, seipin"
                     /db_xref="GeneID:26580"
                     /db_xref="HGNC:HGNC:15832"
                     /db_xref="MIM:606158"
     exon            1..316
                     /gene="BSCL2"
                     /gene_synonym="GNG3LG; HMN5; HMN5C; HMND13; PELD; SPG17"
                     /inference="alignment:Splign:2.1.0"
     CDS             230..1618
                     /gene="BSCL2"
                     /gene_synonym="GNG3LG; HMN5; HMN5C; HMND13; PELD; SPG17"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Bernardinelli-Seip congenital lipodystrophy type 2
                     protein; Berardinelli-Seip congenital lipodystrophy 2
                     (seipin); BSCL2, seipin lipid droplet biogenesis
                     associated"
                     /codon_start=1
                     /product="seipin isoform 1"
                     /protein_id="NP_001116427.1"
                     /db_xref="CCDS:CCDS44627.1"
                     /db_xref="GeneID:26580"
                     /db_xref="HGNC:HGNC:15832"
                     /db_xref="MIM:606158"
                     /translation="MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPG
                     GRAARNARPEPGARHPALPAMVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTI
                     LLLLWVSVFLYGSFYYSYMPTVSHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGR
                     DRVLMYGQPYRVTLELELPESPVNQDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSD
                     LLQMLDTLVFSSLLLFGFAEQKQLLEVELYADYRENSYVPTTGAIIEIHSKRIQLYGA
                     YLRIHAHFTGLRYLLYNFPMTCAFIGVASNFTFLSVIVLFSYMQWVWGGIWPRHRFSL
                     QVNIRKRDNSRKEVQRRISAHQPGPEGQEESTPQSDVTEDGESPEDPSGTEGQLSEEE
                     KPDQQPLSGEEELEPEASDGSGSWEDAALLTEANLPAPAPASASAPVLETLGSSEPAG
                     GALRQRPTCSSS"
     exon            317..633
                     /gene="BSCL2"
                     /gene_synonym="GNG3LG; HMN5; HMN5C; HMND13; PELD; SPG17"
                     /inference="alignment:Splign:2.1.0"
     exon            634..715
                     /gene="BSCL2"
                     /gene_synonym="GNG3LG; HMN5; HMN5C; HMND13; PELD; SPG17"
                     /inference="alignment:Splign:2.1.0"
     exon            716..859
                     /gene="BSCL2"
                     /gene_synonym="GNG3LG; HMN5; HMN5C; HMND13; PELD; SPG17"
                     /inference="alignment:Splign:2.1.0"
     exon            860..994
                     /gene="BSCL2"
                     /gene_synonym="GNG3LG; HMN5; HMN5C; HMND13; PELD; SPG17"
                     /inference="alignment:Splign:2.1.0"
     exon            995..1092
                     /gene="BSCL2"
                     /gene_synonym="GNG3LG; HMN5; HMN5C; HMND13; PELD; SPG17"
                     /inference="alignment:Splign:2.1.0"
     exon            1093..1234
                     /gene="BSCL2"
                     /gene_synonym="GNG3LG; HMN5; HMN5C; HMND13; PELD; SPG17"
                     /inference="alignment:Splign:2.1.0"
     exon            1235..1301
                     /gene="BSCL2"
                     /gene_synonym="GNG3LG; HMN5; HMN5C; HMND13; PELD; SPG17"
                     /inference="alignment:Splign:2.1.0"
     exon            1302..1382
                     /gene="BSCL2"
                     /gene_synonym="GNG3LG; HMN5; HMN5C; HMND13; PELD; SPG17"
                     /inference="alignment:Splign:2.1.0"
     exon            1383..1463
                     /gene="BSCL2"
                     /gene_synonym="GNG3LG; HMN5; HMN5C; HMND13; PELD; SPG17"
                     /inference="alignment:Splign:2.1.0"
     exon            1464..1710
                     /gene="BSCL2"
                     /gene_synonym="GNG3LG; HMN5; HMN5C; HMND13; PELD; SPG17"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1687..1692
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BSCL2"
                     /gene_synonym="GNG3LG; HMN5; HMN5C; HMND13; PELD; SPG17"
                     /note="hexamer: AATAAA"
     polyA_site      1710
                     /gene="BSCL2"
                     /gene_synonym="GNG3LG; HMN5; HMN5C; HMND13; PELD; SPG17"
                     /note="major polyA site"
ORIGIN      
        1 atttgaaaat ctgacatcag ctgggcagtc gcccccctcc tcctttcctc cctctactct
       61 gacacagcac ttagcacctg aatcttcgtt tctctcccag ggaccctcca ttttccatat
      121 ccaggaaaat gtgatgcgcc acaggtatca gcgtctggat cgccacttca cgttttagcc
      181 acaagtgact cagtggaaga tccagagtca acagaggctc gtcaggaaga tgtctacaga
      241 aaaggtagac caaaaggagg aagctgggga aaaagaggtg tgcggagacc agatcaaagg
      301 accggacaaa gaggaggaac caccagctgc tgcatcccat ggccaggggt ggcgtccagg
      361 tggcagagca gctaggaacg caaggcctga acctggggcc agacaccctg ctctcccggc
      421 catggtcaac gaccctccag tacctgcctt actgtgggcc caggaggtgg gccaagtctt
      481 ggcaggccgt gcccgcaggc tgctgctgca gtttggggtg ctcttctgca ccatcctcct
      541 tttgctctgg gtgtctgtct tcctctatgg ctccttctac tattcctata tgccgacagt
      601 cagccacctc agccctgtgc atttctacta caggaccgac tgtgattcct ccaccacctc
      661 actctgctcc ttccctgttg ccaatgtctc gctgactaag ggtggacgtg atcgggtgct
      721 gatgtatgga cagccgtatc gtgttacctt agagcttgag ctgccagagt cccctgtgaa
      781 tcaagatttg ggcatgttct tggtcaccat ttcctgctac accagaggtg gccgaatcat
      841 ctccacttct tcgcgttcgg tgatgctgca ttaccgctca gacctgctcc agatgctgga
      901 cacactggtc ttctctagcc tcctgctatt tggctttgca gagcagaagc agctgctgga
      961 ggtggaactc tacgcagact atagagagaa ctcgtacgtg ccgaccactg gagcgatcat
     1021 tgagatccac agcaagcgca tccagctgta tggagcctac ctccgcatcc acgcgcactt
     1081 cactgggctc agatacctgc tatacaactt cccgatgacc tgcgccttca taggtgttgc
     1141 cagcaacttc accttcctca gcgtcatcgt gctcttcagc tacatgcagt gggtgtgggg
     1201 gggcatctgg ccccgacacc gcttctcttt gcaggttaac atccgaaaaa gagacaattc
     1261 ccggaaggaa gtccaacgaa ggatctctgc tcatcagcca gggcctgaag gccaggagga
     1321 gtcaactccg caatcagatg ttacagagga tggtgagagc cctgaagatc cctcagggac
     1381 agagggtcag ctgtccgagg aggagaaacc agatcagcag cccctgagcg gagaagagga
     1441 gctagagcct gaggccagtg atggttcagg ctcctgggaa gatgcagctt tgctgacgga
     1501 ggccaacctg cctgctcctg ctcctgcttc tgcttctgcc cctgtcctag agactctggg
     1561 cagctctgaa cctgctgggg gtgctctccg acagcgcccc acctgctcta gttcctgaag
     1621 aaaaggggca gactcctcac attccagcac tttcccacct gactcctctc ccctcgtttt
     1681 tccttcaata aactattttg tgtcagcttc
//
