LOCUS       NM_006280                608 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens signal sequence receptor subunit 4 (SSR4), transcript
            variant 2, mRNA.
ACCESSION   NM_006280
VERSION     NM_006280.3
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 608)
  AUTHORS   Castiglioni,C., Feillet,F., Barnerias,C., Wiedemann,A., Muchart,J.,
            Cortes,F., Hernando-Davalillo,C., Montero,R., Dupre,T., Bruneel,A.,
            Seta,N., Vuillaumier-Barrot,S. and Serrano,M.
  TITLE     Expanding the phenotype of X-linked SSR4-CDG: Connective tissue
            implications
  JOURNAL   Hum Mutat 42 (2), 142-149 (2021)
   PUBMED   33300232
  REMARK    GeneRIF: Expanding the phenotype of X-linked SSR4-CDG: Connective
            tissue implications.
REFERENCE   2  (bases 1 to 608)
  AUTHORS   Ng,B.G., Raymond,K., Kircher,M., Buckingham,K.J., Wood,T.,
            Shendure,J., Nickerson,D.A., Bamshad,M.J., Wong,J.T.,
            Monteiro,F.P., Graham,B.H., Jackson,S., Sparkes,R., Scheuerle,A.E.,
            Cathey,S., Kok,F., Gibson,J.B. and Freeze,H.H.
  CONSRTM   University of Washington Center for Mendelian Genomics
  TITLE     Expanding the Molecular and Clinical Phenotype of SSR4-CDG
  JOURNAL   Hum Mutat 36 (11), 1048-1051 (2015)
   PUBMED   26264460
  REMARK    GeneRIF: We now report eight affected males with either de novo (4)
            or inherited (4) loss of function mutations in SSR4.
REFERENCE   3  (bases 1 to 608)
  AUTHORS   Buschow,S.I., van Balkom,B.W., Aalberts,M., Heck,A.J., Wauben,M.
            and Stoorvogel,W.
  TITLE     MHC class II-associated proteins in B-cell exosomes and potential
            functional implications for exosome biogenesis
  JOURNAL   Immunol Cell Biol 88 (8), 851-856 (2010)
   PUBMED   20458337
REFERENCE   4  (bases 1 to 608)
  AUTHORS   Wang,Z. and VandeBerg,J.L.
  TITLE     Cloning and molecular characterization of a human ortholog of
            Monodelphis TRAPD in ultraviolet B-induced melanoma
  JOURNAL   Melanoma Res 14 (2), 107-114 (2004)
   PUBMED   15057039
  REMARK    GeneRIF: results of this study implicate TRAPD as a candidate gene
            with potential functions that might be associated with
            ultraviolet-induced melanomagenesis and metastasis
REFERENCE   5  (bases 1 to 608)
  AUTHORS   Miyazaki,K., Fujita,T., Ozaki,T., Kato,C., Kurose,Y., Sakamoto,M.,
            Kato,S., Goto,T., Itoyama,Y., Aoki,M. and Nakagawara,A.
  TITLE     NEDL1, a novel ubiquitin-protein isopeptide ligase for
            dishevelled-1, targets mutant superoxide dismutase-1
  JOURNAL   J Biol Chem 279 (12), 11327-11335 (2004)
   PUBMED   14684739
REFERENCE   6  (bases 1 to 608)
  AUTHORS   Dodson,G. and Steiner,D.
  TITLE     The role of assembly in insulin's biosynthesis
  JOURNAL   Curr Opin Struct Biol 8 (2), 189-194 (1998)
   PUBMED   9631292
  REMARK    Review article
REFERENCE   7  (bases 1 to 608)
  AUTHORS   Brenner,V., Nyakatura,G., Rosenthal,A. and Platzer,M.
  TITLE     Genomic organization of two novel genes on human Xq28: compact head
            to head arrangement of IDH gamma and TRAP delta is conserved in rat
            and mouse
  JOURNAL   Genomics 44 (1), 8-14 (1997)
   PUBMED   9286695
REFERENCE   8  (bases 1 to 608)
  AUTHORS   Holthuis,J.C., van Riel,M.C. and Martens,G.J.
  TITLE     Translocon-associated protein TRAP delta and a novel TRAP-like
            protein are coordinately expressed with pro-opiomelanocortin in
            Xenopus intermediate pituitary
  JOURNAL   Biochem J 312 (Pt 1) (Pt 1), 205-213 (1995)
   PUBMED   7492314
REFERENCE   9  (bases 1 to 608)
  AUTHORS   Hartmann,E., Gorlich,D., Kostka,S., Otto,A., Kraft,R., Knespel,S.,
            Burger,E., Rapoport,T.A. and Prehn,S.
  TITLE     A tetrameric complex of membrane proteins in the endoplasmic
            reticulum
  JOURNAL   Eur J Biochem 214 (2), 375-381 (1993)
   PUBMED   7916687
REFERENCE   10 (bases 1 to 608)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z69043.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_006280.2.
            
            Summary: This gene encodes the delta subunit of the
            translocon-associated protein complex which is involved in
            translocating proteins across the endoplasmic reticulum membrane.
            The encoded protein is located in the Xq28 region and is arranged
            in a compact head-to-head manner with the isocitrate dehydrogenase
            3 (NAD+) gamma gene and both genes are driven by a CpG-embedded
            bidirectional promoter. Alternate splicing results in multiple
            transcript variants.[provided by RefSeq, Mar 2011].
            
            Transcript Variant: This variant (2) contains an alternate segment
            in the 5' UTR and coding region and uses a downstream start codon,
            compared to variant 1. Isoform 2 has a shorter N-terminus, compared
            to 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 :: SRR1163658.464713.1,
                                           SRR5189661.135353.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370086.8/ ENSP00000359103.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-608               Z69043.1           30-637
FEATURES             Location/Qualifiers
     source          1..608
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..608
                     /gene="SSR4"
                     /gene_synonym="CDG1Y; TRAPD"
                     /note="signal sequence receptor subunit 4"
                     /db_xref="GeneID:6748"
                     /db_xref="HGNC:HGNC:11326"
                     /db_xref="MIM:300090"
     exon            1..87
                     /gene="SSR4"
                     /gene_synonym="CDG1Y; TRAPD"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..542
                     /gene="SSR4"
                     /gene_synonym="CDG1Y; TRAPD"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; translocon-associated protein subunit delta;
                     SSR-delta; TRAP-delta; signal sequence receptor, delta"
                     /codon_start=1
                     /product="translocon-associated protein subunit delta
                     isoform 2 precursor"
                     /protein_id="NP_006271.1"
                     /db_xref="CCDS:CCDS14731.1"
                     /db_xref="GeneID:6748"
                     /db_xref="HGNC:HGNC:11326"
                     /db_xref="MIM:300090"
                     /translation="MAAMASLGALALLLLSSLSRCSAEACLEPQITPSYYTTSDAVIS
                     TETVFIVEISLTCKNRVQNMALYADVGGKQFPVTRGQDVGRYQVSWSLDHKSAHAGTY
                     EVRFFDEESYSLLRKAQRNNEDISIIPPLFTVSVDHRGTWNGPWVSTEVLAAAIGLVI
                     YYLAFSAKSHIQA"
     exon            88..206
                     /gene="SSR4"
                     /gene_synonym="CDG1Y; TRAPD"
                     /inference="alignment:Splign:2.1.0"
     exon            207..281
                     /gene="SSR4"
                     /gene_synonym="CDG1Y; TRAPD"
                     /inference="alignment:Splign:2.1.0"
     exon            282..371
                     /gene="SSR4"
                     /gene_synonym="CDG1Y; TRAPD"
                     /inference="alignment:Splign:2.1.0"
     exon            372..437
                     /gene="SSR4"
                     /gene_synonym="CDG1Y; TRAPD"
                     /inference="alignment:Splign:2.1.0"
     exon            438..608
                     /gene="SSR4"
                     /gene_synonym="CDG1Y; TRAPD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      576..581
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SSR4"
                     /gene_synonym="CDG1Y; TRAPD"
                     /note="hexamer: AATAAA"
     polyA_site      608
                     /gene="SSR4"
                     /gene_synonym="CDG1Y; TRAPD"
                     /note="major polyA site"
ORIGIN      
        1 ctctaggcag agaagaggcg atggcggcga tggcatctct cggcgccctg gcgctgctcc
       61 tgctgtccag cctctcccgc tgctcagccg aggcctgcct ggagccccag atcacccctt
      121 cctactacac cacttctgac gctgtcattt ccactgagac cgtcttcatt gtggagatct
      181 ccctgacatg caagaacagg gtccagaaca tggctctcta tgctgacgtc ggtggaaaac
      241 aattccctgt cactcgaggc caggatgtgg ggcgttatca ggtgtcctgg agcctggacc
      301 acaagagcgc ccacgcaggc acctatgagg ttagattctt cgacgaggag tcctacagcc
      361 tcctcaggaa ggctcagagg aataacgagg acatttccat catcccgcct ctgtttacag
      421 tcagcgtgga ccatcggggc acttggaacg ggccctgggt gtccactgag gtgctggctg
      481 cggcgatcgg ccttgtgatc tactacttgg ccttcagtgc gaagagccac atccaggcct
      541 gagggcggca ccccagccct gcccttgctt ccttcaataa acatcacagg acctgggact
      601 gcacagga
//
