LOCUS       NM_022101               2301 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens STING1 ER exit protein 1 (STEEP1), transcript variant
            1, mRNA.
ACCESSION   NM_022101
VERSION     NM_022101.4
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 2301)
  AUTHORS   Ma,M., Dang,Y., Chang,B., Wang,F., Xu,J., Chen,L., Su,H., Li,J.,
            Ge,B., Chen,C. and Liu,H.
  TITLE     TAK1 is an essential kinase for STING trafficking
  JOURNAL   Mol Cell 83 (21), 3885-3903 (2023)
   PUBMED   37832545
REFERENCE   2  (bases 1 to 2301)
  AUTHORS   Wolanska,E., Pollak,A., Rydzanicz,M., Pesz,K., Klaniewska,M.,
            Rozensztrauch,A., Skiba,P., Stawinski,P., Ploski,R. and Smigiel,R.
  TITLE     The Role of the Reanalysis of Genetic Test Results in the Diagnosis
            of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including
            the UBE2A and CXorf56 Genes
  JOURNAL   Genes (Basel) 12 (3), 350 (2021)
   PUBMED   33673493
  REMARK    GeneRIF: The Role of the Reanalysis of Genetic Test Results in the
            Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion
            including the UBE2A and CXorf56 Genes.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2301)
  AUTHORS   Zhang,B.C., Nandakumar,R., Reinert,L.S., Huang,J., Laustsen,A.,
            Gao,Z.L., Sun,C.L., Jensen,S.B., Troldborg,A., Assil,S.,
            Berthelsen,M.F., Scavenius,C., Zhang,Y., Windross,S.J.,
            Olagnier,D., Prabakaran,T., Bodda,C., Narita,R., Cai,Y.,
            Zhang,C.G., Stenmark,H., Doucet,C.M., Noda,T., Guo,Z.,
            Goldbach-Mansky,R., Hartmann,R., Chen,Z.J., Enghild,J.J., Bak,R.O.,
            Thomsen,M.K. and Paludan,S.R.
  TITLE     STEEP mediates STING ER exit and activation of signaling
  JOURNAL   Nat Immunol 21 (8), 868-879 (2020)
   PUBMED   32690950
  REMARK    GeneRIF: STEEP mediates STING ER exit and activation of signaling.
            Erratum:[Nat Immunol. 2020 Nov;21(11):1468-1469. doi:
            10.1038/s41590-020-0803-5.. PMID: 32929276]
REFERENCE   4  (bases 1 to 2301)
  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 2301)
  AUTHORS   Rocha,M.E., Silveira,T.R.D., Sasaki,E., Sas,D.M., Lourenco,C.M.,
            Kandaswamy,K.K., Beetz,C., Rolfs,A., Bauer,P., Reardon,W. and
            Bertoli-Avella,A.M.
  TITLE     Novel clinical and genetic insight into CXorf56-associated
            intellectual disability
  JOURNAL   Eur J Hum Genet 28 (3), 367-372 (2020)
   PUBMED   31822863
  REMARK    GeneRIF: Novel clinical and genetic insight into CXorf56-associated
            intellectual disability.
REFERENCE   6  (bases 1 to 2301)
  AUTHORS   Pollock,T.B., Mack,J.M., Day,R.J., Isho,N.F., Brown,R.J.,
            Oxford,A.E., Morrison,B.E., Hayden,E.J. and Rohn,T.T.
  TITLE     A Fragment of Apolipoprotein E4 Leads to the Downregulation of a
            CXorf56 Homologue, a Novel ER-Associated Protein, and Activation of
            BV2 Microglial Cells
  JOURNAL   Oxid Med Cell Longev 2019, 5123565 (2019)
   PUBMED   31198491
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2301)
  AUTHORS   Verkerk,A.J.M.H., Zeidler,S., Breedveld,G., Overbeek,L., Huigh,D.,
            Koster,L., van der Linde,H., de Esch,C., Severijnen,L.A., de
            Vries,B.B.A., Swagemakers,S.M.A., Willemsen,R., Hoogeboom,A.J.M.,
            van der Spek,P.J. and Oostra,B.A.
  TITLE     CXorf56, a dendritic neuronal protein, identified as a new
            candidate gene for X-linked intellectual disability
  JOURNAL   Eur J Hum Genet 26 (4), 552-560 (2018)
   PUBMED   29374277
  REMARK    GeneRIF: Pathogenic CXorf56 variant was identified in the family
            with X-linked intellectual disability.
REFERENCE   8  (bases 1 to 2301)
  AUTHORS   Tarpey,P.S., Smith,R., Pleasance,E., Whibley,A., Edkins,S.,
            Hardy,C., O'Meara,S., Latimer,C., Dicks,E., Menzies,A.,
            Stephens,P., Blow,M., Greenman,C., Xue,Y., Tyler-Smith,C.,
            Thompson,D., Gray,K., Andrews,J., Barthorpe,S., Buck,G., Cole,J.,
            Dunmore,R., Jones,D., Maddison,M., Mironenko,T., Turner,R.,
            Turrell,K., Varian,J., West,S., Widaa,S., Wray,P., Teague,J.,
            Butler,A., Jenkinson,A., Jia,M., Richardson,D., Shepherd,R.,
            Wooster,R., Tejada,M.I., Martinez,F., Carvill,G., Goliath,R., de
            Brouwer,A.P., van Bokhoven,H., Van Esch,H., Chelly,J., Raynaud,M.,
            Ropers,H.H., Abidi,F.E., Srivastava,A.K., Cox,J., Luo,Y.,
            Mallya,U., Moon,J., Parnau,J., Mohammed,S., Tolmie,J.L.,
            Shoubridge,C., Corbett,M., Gardner,A., Haan,E., Rujirabanjerd,S.,
            Shaw,M., Vandeleur,L., Fullston,T., Easton,D.F., Boyle,J.,
            Partington,M., Hackett,A., Field,M., Skinner,C., Stevenson,R.E.,
            Bobrow,M., Turner,G., Schwartz,C.E., Gecz,J., Raymond,F.L.,
            Futreal,P.A. and Stratton,M.R.
  TITLE     A systematic, large-scale resequencing screen of X-chromosome
            coding exons in mental retardation
  JOURNAL   Nat Genet 41 (5), 535-543 (2009)
   PUBMED   19377476
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA921725.1, BQ223940.1 and AC004000.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_022101.3.
            
            Summary: While this gene is well-supported by transcript data, no
            functional information on its protein products is currently
            available. Three transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Dec 2009].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: SRR18074967.1850696.1,
                                           SRR3476690.966054.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000644802.2/ ENSP00000494123.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-580               DA921725.1         1-580
            581-830             BQ223940.1         571-820
            831-2301            AC004000.1         117267-118737       c
FEATURES             Location/Qualifiers
     source          1..2301
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq24"
     gene            1..2301
                     /gene="STEEP1"
                     /gene_synonym="CXorf56; MRX107; STEEP; XLID107"
                     /note="STING1 ER exit protein 1"
                     /db_xref="GeneID:63932"
                     /db_xref="HGNC:HGNC:26239"
                     /db_xref="MIM:301012"
     exon            1..178
                     /gene="STEEP1"
                     /gene_synonym="CXorf56; MRX107; STEEP; XLID107"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..723
                     /gene="STEEP1"
                     /gene_synonym="CXorf56; MRX107; STEEP; XLID107"
                     /note="isoform 1 is encoded by transcript variant 1;
                     UPF0428 protein CXorf56; STING ER exit protein"
                     /codon_start=1
                     /product="STING ER exit protein isoform 1"
                     /protein_id="NP_071384.1"
                     /db_xref="CCDS:CCDS94660.1"
                     /db_xref="GeneID:63932"
                     /db_xref="HGNC:HGNC:26239"
                     /db_xref="MIM:301012"
                     /translation="MPKVVSRSVVCSDTRDREEYDDGEKPLHVYYCLCGQMVLVLDCQ
                     LEKLPMRPRDRSRVIDAAKHAHKFCNTEDEETMYLRRPEGIERQYRKKCAKCGLPLFY
                     QSQPKNAPVTFIVDGAVVKFGQGFGKTNIYTQKQEPPKKVMMTKRTKDMGKFSSVTVS
                     TIDEEEEEIEAREVADSYAQNAKVIEKQLERKGMSKRRLQELAELEAKKAKMKGTLID
                     NQFK"
     exon            179..296
                     /gene="STEEP1"
                     /gene_synonym="CXorf56; MRX107; STEEP; XLID107"
                     /inference="alignment:Splign:2.1.0"
     exon            297..338
                     /gene="STEEP1"
                     /gene_synonym="CXorf56; MRX107; STEEP; XLID107"
                     /inference="alignment:Splign:2.1.0"
     exon            339..477
                     /gene="STEEP1"
                     /gene_synonym="CXorf56; MRX107; STEEP; XLID107"
                     /inference="alignment:Splign:2.1.0"
     exon            478..567
                     /gene="STEEP1"
                     /gene_synonym="CXorf56; MRX107; STEEP; XLID107"
                     /inference="alignment:Splign:2.1.0"
     exon            568..660
                     /gene="STEEP1"
                     /gene_synonym="CXorf56; MRX107; STEEP; XLID107"
                     /inference="alignment:Splign:2.1.0"
     exon            661..2301
                     /gene="STEEP1"
                     /gene_synonym="CXorf56; MRX107; STEEP; XLID107"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1312..1317
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STEEP1"
                     /gene_synonym="CXorf56; MRX107; STEEP; XLID107"
                     /note="hexamer: AATAGA"
     polyA_site      1333
                     /gene="STEEP1"
                     /gene_synonym="CXorf56; MRX107; STEEP; XLID107"
     regulatory      1549..1554
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STEEP1"
                     /gene_synonym="CXorf56; MRX107; STEEP; XLID107"
                     /note="hexamer: ATTAAA"
     polyA_site      1568
                     /gene="STEEP1"
                     /gene_synonym="CXorf56; MRX107; STEEP; XLID107"
                     /note="major polyA site"
     regulatory      2280..2285
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STEEP1"
                     /gene_synonym="CXorf56; MRX107; STEEP; XLID107"
                     /note="hexamer: ATTAAA"
     polyA_site      2301
                     /gene="STEEP1"
                     /gene_synonym="CXorf56; MRX107; STEEP; XLID107"
                     /note="major polyA site"
ORIGIN      
        1 atttcggggc gaccctcttc ttggcgtaga gttttcagat tgctcttggg aatcatgccg
       61 aaagtagtgt ctcggtcagt agtctgctct gacactcggg accgggagga atatgacgac
      121 ggcgagaagc ccctccatgt ttactactgt ttgtgcggcc agatggtcct agtgctggac
      181 tgccagttag agaaattgcc catgaggccc cgggaccggt cccgtgtgat tgatgctgcc
      241 aaacatgccc ataagttttg taacacagaa gatgaggaga ctatgtatct gcggagacct
      301 gaaggcattg aacgacagta caggaagaaa tgtgcaaagt gtggactgcc gctcttctac
      361 caatcccagc caaagaatgc tcctgttacc ttcattgtgg atggagcagt agtcaagttt
      421 ggccagggct ttgggaaaac gaacatatat actcagaaac aagagcctcc taagaaggtg
      481 atgatgacca aacggaccaa agacatgggc aagttcagtt ctgtcaccgt gtctaccatt
      541 gatgaagagg aagaggagat tgaggctagg gaagttgctg actcatatgc acagaatgcc
      601 aaagtgattg aaaaacagct ggagcgcaaa ggcatgagca agaggcgact gcaagagctg
      661 gctgaattgg aagccaagaa agcgaaaatg aaggggacct tgattgacaa ccagttcaaa
      721 taaccaggcc tttttctaag ccctagacta gaggcaagca tttagatcag gaggcaaagt
      781 aatttcttga ttacatagac ggattcctat ttatgcccta gcagaaggct ttacgttgtt
      841 tcccattgat tctcctacat tcagtgaggt ctttaactga gtccatttaa cttgctttct
      901 tttttttttt tttttttttg agataaagtc ttgctctttc gcccaggatg gagtgcagtg
      961 gtgcgatctc ggctcactgc aacctccgcc tcccgggttc aagcagttct cctgcctcag
     1021 cctcctgagt agctgggatt acaggcatgt gccaccacgc ctggctaatt tttgtatttt
     1081 tagtagagac gggttccacc atgttggcca ggctggtctc caactcctga cctcaaatga
     1141 tccacccacc taggcctccc aaagtgctgg gattacagga gtgagccacc gtgcccagcc
     1201 ttgccctgct ttctaggaga tggagttttc tgaatttttc tgtatttagg ttttctgtac
     1261 tattttttgt ccacttgatg caaacttctt cagctgtgta gaaactttat gaatagatga
     1321 gtgcttgagt gtctccagtc tctaaagtgg ctgcttttat tctttcttca aagttaataa
     1381 catgttgcaa gatttttgga caaaatatta tggtgtgtca taggaaaagc accatgaatt
     1441 atatttaggt atagcaagtc agatcctttg aagtgactct gtctctgttc ttagaagggt
     1501 tcttggaatt ggctgtggtt tgaatctttc tactgtcaga ggagacccat taaaagccag
     1561 aatctgcata aagctttctt tacttcaaac actgaagctg taggcgagcc atcccgtatc
     1621 gactttatac tcaaagaagg aaaagccaga ttgcagtgag tgggtaggac agctcagatc
     1681 caaatgaaag tagggtctca agtaacccaa gggtggccgg gtacggtggc tcacgcctgt
     1741 aatcctagca gtttgggagg cagaggcggg cagattgcct gagctcagga gtttgagacc
     1801 agcctgggca acatggtgaa accctgtctc tactaaaata caaaagaaat tagccaggtg
     1861 tggcggcata cccctgtagt cacggctact tgggaggcag aggcaggaga attgcttgaa
     1921 ctcgggaggt ggaggttgca gtgagctgag attgcaccac tgtactccag cactccagcc
     1981 tgggcgacag agtgagactc tgtctctaca aaaaaaaaaa aaaaaaaaag taacccaagg
     2041 gagggagcta ccctctagtc gggcagctga tactgcttcc ttgcatggat acatgggagg
     2101 gagacgttat agattaagaa atgatagcaa gataaacaaa atgatttgtt gggtatcttt
     2161 tactttacat ttgttatttg cagaggagtg ttgtatatat agatgttatt ttatgtcaca
     2221 ctgcttcaat gatacctata tccatgtgtt tgtatccatg tttttatcca ttcaactgta
     2281 ttaaaaggtg ttgggacagg a
//
