LOCUS       NM_016581               1647 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens ECSIT signaling integrator (ECSIT), transcript variant
            1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_016581
VERSION     NM_016581.5
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 1647)
  AUTHORS   Yang,Y., Wang,Y., Wang,Z., Yan,H., Gong,Y., Hu,Y., Jiang,Y.,
            Wen,S., Xu,F., Wang,B., Humphries,F., Chen,Y., Wang,X. and Yang,S.
  TITLE     ECSIT facilitates memory CD8+ T cell development by mediating
            fumarate synthesis during viral infection and tumorigenesis
  JOURNAL   Nat Cell Biol 26 (3), 450-463 (2024)
   PUBMED   38326554
  REMARK    GeneRIF: ECSIT facilitates memory CD8[+] T cell development by
            mediating fumarate synthesis during viral infection and
            tumorigenesis.
REFERENCE   2  (bases 1 to 1647)
  AUTHORS   Jiang,Y., Ma,C., Hu,Y., Yang,Y., Ma,C., Wu,C., Liu,L., Wen,S.,
            Moynagh,P.N., Wang,B. and Yang,S.
  TITLE     ECSIT Is a Critical Factor for Controlling Intestinal Homeostasis
            and Tumorigenesis through Regulating the Translation of YAP Protein
  JOURNAL   Adv Sci (Weinh) 10 (25), e2205180 (2023)
   PUBMED   37409430
  REMARK    GeneRIF: ECSIT Is a Critical Factor for Controlling Intestinal
            Homeostasis and Tumorigenesis through Regulating the Translation of
            YAP Protein.
REFERENCE   3  (bases 1 to 1647)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   4  (bases 1 to 1647)
  AUTHORS   Xu,L., Humphries,F., Delagic,N., Wang,B., Holland,A., Edgar,K.S.,
            Hombrebueno,J.R., Stolz,D.B., Oleszycka,E., Rodgers,A.M.,
            Glezeva,N., McDonald,K., Watson,C.J., Ledwidge,M.T., Ingram,R.J.,
            Grieve,D.J. and Moynagh,P.N.
  TITLE     ECSIT is a critical limiting factor for cardiac function
  JOURNAL   JCI Insight 6 (12), 142801 (2021)
   PUBMED   34032637
  REMARK    GeneRIF: ECSIT is a critical limiting factor for cardiac function.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1647)
  AUTHORS   Carroll,J., He,J., Ding,S., Fearnley,I.M. and Walker,J.E.
  TITLE     TMEM70 and TMEM242 help to assemble the rotor ring of human ATP
            synthase and interact with assembly factors for complex I
  JOURNAL   Proc Natl Acad Sci U S A 118 (13) (2021)
   PUBMED   33753518
REFERENCE   6  (bases 1 to 1647)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1647)
  AUTHORS   Nouws,J., Nijtmans,L., Houten,S.M., van den Brand,M., Huynen,M.,
            Venselaar,H., Hoefs,S., Gloerich,J., Kronick,J., Hutchin,T.,
            Willems,P., Rodenburg,R., Wanders,R., van den Heuvel,L.,
            Smeitink,J. and Vogel,R.O.
  TITLE     Acyl-CoA dehydrogenase 9 is required for the biogenesis of
            oxidative phosphorylation complex I
  JOURNAL   Cell Metab 12 (3), 283-294 (2010)
   PUBMED   20816094
REFERENCE   8  (bases 1 to 1647)
  AUTHORS   Vogel,R.O., Janssen,R.J., van den Brand,M.A., Dieteren,C.E.,
            Verkaart,S., Koopman,W.J., Willems,P.H., Pluk,W., van den
            Heuvel,L.P., Smeitink,J.A. and Nijtmans,L.G.
  TITLE     Cytosolic signaling protein Ecsit also localizes to mitochondria
            where it interacts with chaperone NDUFAF1 and functions in complex
            I assembly
  JOURNAL   Genes Dev 21 (5), 615-624 (2007)
   PUBMED   17344420
  REMARK    GeneRIF: Study shows a mitochondrial function for Ecsit in the
            assembly of mitochondrial complex I, an N-terminal targeting signal
            directs Ecsit to mitochondria, where it interacts with assembly
            chaperone NDUFAF1.
REFERENCE   9  (bases 1 to 1647)
  AUTHORS   Xiao,C., Shim,J.H., Kluppel,M., Zhang,S.S., Dong,C., Flavell,R.A.,
            Fu,X.Y., Wrana,J.L., Hogan,B.L. and Ghosh,S.
  TITLE     Ecsit is required for Bmp signaling and mesoderm formation during
            mouse embryogenesis
  JOURNAL   Genes Dev 17 (23), 2933-2949 (2003)
   PUBMED   14633973
REFERENCE   10 (bases 1 to 1647)
  AUTHORS   Kopp,E., Medzhitov,R., Carothers,J., Xiao,C., Douglas,I.,
            Janeway,C.A. and Ghosh,S.
  TITLE     ECSIT is an evolutionarily conserved intermediate in the Toll/IL-1
            signal transduction pathway
  JOURNAL   Genes Dev 13 (16), 2059-2071 (1999)
   PUBMED   10465784
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BE791936.1 and BC000193.1.
            
            On Nov 23, 2018 this sequence version replaced NM_016581.4.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: SRR3476690.755682.1,
                                           SRR3476690.782197.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2144120
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000270517.12/
                                                  ENSP00000270517.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                BE791936.1         39-49
            12-14               BE791936.1         51-53
            15-1647             BC000193.1         1-1633
FEATURES             Location/Qualifiers
     source          1..1647
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..1647
                     /gene="ECSIT"
                     /gene_synonym="SITPEC"
                     /note="ECSIT signaling integrator"
                     /db_xref="GeneID:51295"
                     /db_xref="HGNC:HGNC:29548"
                     /db_xref="MIM:608388"
     exon            1..73
                     /gene="ECSIT"
                     /gene_synonym="SITPEC"
                     /inference="alignment:Splign:2.1.0"
     exon            74..192
                     /gene="ECSIT"
                     /gene_synonym="SITPEC"
                     /inference="alignment:Splign:2.1.0"
     CDS             97..1392
                     /gene="ECSIT"
                     /gene_synonym="SITPEC"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; likely ortholog of mouse signaling intermediate
                     in Toll pathway evolutionarily conserved; ECSIT homolog;
                     evolutionarily conserved signaling intermediate in Toll
                     pathway, mitochondrial; ECSIT signalling integrator"
                     /codon_start=1
                     /product="evolutionarily conserved signaling intermediate
                     in Toll pathway, mitochondrial isoform 1 precursor"
                     /protein_id="NP_057665.2"
                     /db_xref="CCDS:CCDS12262.1"
                     /db_xref="GeneID:51295"
                     /db_xref="HGNC:HGNC:29548"
                     /db_xref="MIM:608388"
                     /translation="MSWVQATLLARGLCRAWGGTCGAALTGTSISQVPRRLPRGLHCS
                     AAAHSSEQSLVPSPPEPRQRPTKALVPFEDLFGQAPGGERDKASFLQTVQKFAEHSVR
                     KRGHIDFIYLALRKMREYGVERDLAVYNQLLNIFPKEVFRPRNIIQRIFVHYPRQQEC
                     GIAVLEQMENHGVMPNKETEFLLIQIFGRKSYPMLKLVRLKLWFPRFMNVNPFPVPRD
                     LPQDPVELAMFGLRHMEPDLSARVTIYQVPLPKDSTGAADPPQPHIVGIQSPDQQAAL
                     ARHNPARPVFVEGPFSLWLRNKCVYYHILRADLLPPEEREVEETPEEWNLYYPMQLDL
                     EYVRSGWDNYEFDINEVEEGPVFAMCMAGAHDQATMAKWIQGLQETNPTLAQIPVVFR
                     LAGSTRELQTSSAGLEEPPLPEDHQEEDDNLQRQQQGQS"
     exon            193..610
                     /gene="ECSIT"
                     /gene_synonym="SITPEC"
                     /inference="alignment:Splign:2.1.0"
     exon            611..834
                     /gene="ECSIT"
                     /gene_synonym="SITPEC"
                     /inference="alignment:Splign:2.1.0"
     exon            835..892
                     /gene="ECSIT"
                     /gene_synonym="SITPEC"
                     /inference="alignment:Splign:2.1.0"
     exon            893..1041
                     /gene="ECSIT"
                     /gene_synonym="SITPEC"
                     /inference="alignment:Splign:2.1.0"
     exon            1042..1147
                     /gene="ECSIT"
                     /gene_synonym="SITPEC"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1647
                     /gene="ECSIT"
                     /gene_synonym="SITPEC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1612..1617
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ECSIT"
                     /gene_synonym="SITPEC"
                     /note="hexamer: AATAAA"
     polyA_site      1647
                     /gene="ECSIT"
                     /gene_synonym="SITPEC"
                     /note="major polyA site"
ORIGIN      
        1 ctctgggcca atatggcagc gcccagcaac aagacagagc tggcctggag tccgcggctg
       61 gccgcgtgag taggtgattg tctgacaagc agaggcatga gctgggtcca ggccacccta
      121 ctggcccgag gcctctgtag ggcctgggga ggcacctgcg gggccgccct cacaggaacc
      181 tccatctctc aggtccctcg ccggctccct cggggcctcc actgcagcgc agctgcccat
      241 agctctgaac agtccctggt tcccagccca ccggaacccc ggcagaggcc caccaaggct
      301 ctggtgccct ttgaggacct gtttgggcag gcgcctggtg gggaacggga caaggcgagc
      361 ttcctgcaga cggtgcagaa atttgcggag cacagcgtgc gtaagcgggg ccacattgac
      421 ttcatctacc tggccctgcg caagatgcgg gagtatggtg tcgagcggga cctggctgtg
      481 tacaaccagc tgctcaacat cttccccaag gaggtcttcc ggcctcgcaa catcatccag
      541 cgcatcttcg tccactaccc tcggcagcag gagtgtggga ttgctgtcct ggagcagatg
      601 gagaaccacg gtgtgatgcc caacaaggag acggagttcc tgctgattca gatctttgga
      661 cgcaaaagct accccatgct caagttggtg cgcctgaagc tgtggttccc tcgattcatg
      721 aacgtcaacc ccttcccagt gccccgggac ctgccccagg accctgtgga gctggccatg
      781 tttggcctgc ggcacatgga gcctgacctt agtgccaggg tcaccatcta ccaggttcct
      841 ttgcccaaag actcaacagg tgcagcagat cccccccagc cccacatcgt aggaatccag
      901 agtcccgatc agcaggccgc cctggcccgc cacaatccag cccggcctgt ctttgttgag
      961 ggccccttct ccctgtggct ccgcaacaag tgtgtgtatt accacatcct cagagctgac
     1021 ttgctgcccc cggaggagag ggaagtggaa gagacgccgg aggagtggaa cctctactac
     1081 ccgatgcagc tggacctgga gtatgtgagg agtggctggg acaactacga gtttgacatc
     1141 aatgaagtgg aggaaggccc tgtcttcgcc atgtgcatgg cgggtgctca tgaccaggcg
     1201 acgatggcta agtggatcca gggcctgcag gagaccaacc caaccctggc ccagatcccc
     1261 gtggtcttcc gcctcgccgg gtccacccgg gagctccaga catcctctgc agggctggag
     1321 gagccgcccc tgcccgagga ccaccaggaa gaagacgaca acctgcagcg acagcagcag
     1381 ggccagagct agtctgagcc ggcgcgaggg cacgggctgt ggcccgagga ggcggtggac
     1441 tgaaggcatg agatgccctt tgagtgtaca gcaaatcaat gttttcctgc ttggggctct
     1501 cttccctcat ctctagcagt atggcatccc ctccccagga tctcgggctg ccagcgatgg
     1561 gcaggcgaga cccctccaga atctgcaggc gcctctggtt ctccgaattc aaataaaaag
     1621 gggcgggagc gctgttggtt gtgcgca
//
