LOCUS       NM_024795               2414 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens transmembrane 4 L six family member 20 (TM4SF20),
            mRNA.
ACCESSION   NM_024795
VERSION     NM_024795.4
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 2414)
  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   2  (bases 1 to 2414)
  AUTHORS   Wang,J., Kinch,L.N., Denard,B., Lee,C.E., Esmaeilzadeh
            Gharehdaghi,E., Grishin,N. and Ye,J.
  TITLE     Identification of residues critical for topology inversion of the
            transmembrane protein TM4SF20 through regulated alternative
            translocation
  JOURNAL   J Biol Chem 294 (15), 6054-6061 (2019)
   PUBMED   30808712
  REMARK    GeneRIF: Identification of residues critical for topology inversion
            of the transmembrane protein TM4SF20 through regulated alternative
            translocation.
REFERENCE   3  (bases 1 to 2414)
  AUTHORS   Chen,Q., Denard,B., Lee,C.E., Han,S., Ye,J.S. and Ye,J.
  TITLE     Inverting the Topology of a Transmembrane Protein by Regulating the
            Translocation of the First Transmembrane Helix
  JOURNAL   Mol Cell 63 (4), 567-578 (2016)
   PUBMED   27499293
  REMARK    GeneRIF: Ceramide inverts the membrane orientation of TMS4SF20,
            creating a form of TM4SF20 that stimulates the cleavage of CREB3L1.
            GeneRIF: TM4SF20 is the first protein shown to undergo Regulated
            Alternative Translocation in response to ceramide. In the absence
            of ceramide, the N terminus of the first transmembrane helix of
            TM4SF20 is inserted into the ER lumen. This form blocks activation
            of CREB3L1, a membrane-bound transcription factor. In the presence
            of ceramide, the membrane topology of TM4SF20 is inverted. The
            inverted form stimulates CREB3L1 cleavage.
REFERENCE   4  (bases 1 to 2414)
  AUTHORS   Chen,Q., Lee,C.E., Denard,B. and Ye,J.
  TITLE     Sustained induction of collagen synthesis by TGF-beta requires
            regulated intramembrane proteolysis of CREB3L1
  JOURNAL   PLoS One 9 (10), e108528 (2014)
   PUBMED   25310401
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2414)
  AUTHORS   Wiszniewski,W., Hunter,J.V., Hanchard,N.A., Willer,J.R., Shaw,C.,
            Tian,Q., Illner,A., Wang,X., Cheung,S.W., Patel,A., Campbell,I.M.,
            Gelowani,V., Hixson,P., Ester,A.R., Azamian,M.S., Potocki,L.,
            Zapata,G., Hernandez,P.P., Ramocki,M.B., Santos-Cortez,R.L.,
            Wang,G., York,M.K., Justice,M.J., Chu,Z.D., Bader,P.I.,
            Omo-Griffith,L., Madduri,N.S., Scharer,G., Crawford,H.P.,
            Yanatatsaneejit,P., Eifert,A., Kerr,J., Bacino,C.A., Franklin,A.I.,
            Goin-Kochel,R.P., Simpson,G., Immken,L., Haque,M.E., Stosic,M.,
            Williams,M.D., Morgan,T.M., Pruthi,S., Omary,R., Boyadjiev,S.A.,
            Win,K.K., Thida,A., Hurles,M., Hibberd,M.L., Khor,C.C., Van Vinh
            Chau,N., Gallagher,T.E., Mutirangura,A., Stankiewicz,P.,
            Beaudet,A.L., Maletic-Savatic,M., Rosenfeld,J.A., Shaffer,L.G.,
            Davis,E.E., Belmont,J.W., Dunstan,S., Simmons,C.P., Bonnen,P.E.,
            Leal,S.M., Katsanis,N., Lupski,J.R. and Lalani,S.R.
  TITLE     TM4SF20 ancestral deletion and susceptibility to a pediatric
            disorder of early language delay and cerebral white matter
            hyperintensities
  JOURNAL   Am J Hum Genet 93 (2), 197-210 (2013)
   PUBMED   23810381
  REMARK    GeneRIF: TM4SF20 ancestral deletion predisposes carriers to a
            pediatric disorder of early language delay and cerebral white
            matter hyperintensities.
            Erratum:[Am J Hum Genet. 2013 Aug 8;93(2):405]
REFERENCE   6  (bases 1 to 2414)
  AUTHORS   Piton,A., Gauthier,J., Hamdan,F.F., Lafreniere,R.G., Yang,Y.,
            Henrion,E., Laurent,S., Noreau,A., Thibodeau,P., Karemera,L.,
            Spiegelman,D., Kuku,F., Duguay,J., Destroismaisons,L., Jolivet,P.,
            Cote,M., Lachapelle,K., Diallo,O., Raymond,A., Marineau,C.,
            Champagne,N., Xiong,L., Gaspar,C., Riviere,J.B., Tarabeux,J.,
            Cossette,P., Krebs,M.O., Rapoport,J.L., Addington,A., Delisi,L.E.,
            Mottron,L., Joober,R., Fombonne,E., Drapeau,P. and Rouleau,G.A.
  TITLE     Systematic resequencing of X-chromosome synaptic genes in autism
            spectrum disorder and schizophrenia
  JOURNAL   Mol Psychiatry 16 (8), 867-880 (2011)
   PUBMED   20479760
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP270111.1, BP271071.1,
            AK026453.1 and AC097662.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 26, 2016 this sequence version replaced NM_024795.3.
            
            Summary: The protein encoded by this gene is a member of the
            four-transmembrane L6 superfamily. Members of this family function
            in various cellular processes including cell proliferation,
            motility, and adhesion via their interactions with integrins. In
            human brain tissue, this gene is expressed at high levels in the
            parietal lobe, occipital lobe, hippocampus, pons, white matter,
            corpus callosum, and cerebellum. Knockout of the homologous gene in
            mouse results in a neurobehavioral phenotype with suggested
            enhanced motor coordination. A deletion mutation in the human gene
            is associated with specific language impairment-5. [provided by
            RefSeq, Jul 2016].
            
            ##Evidence-Data-START##
            Transcript exon combination :: ERR279874.162.1, AK026453.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267769 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304568.4/ ENSP00000303028.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-117               BP270111.1         1-117
            118-118             BP271071.1         116-116
            119-2288            AK026453.1         118-2287
            2289-2414           AC097662.5         91128-91253         c
FEATURES             Location/Qualifiers
     source          1..2414
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q36.3"
     gene            1..2414
                     /gene="TM4SF20"
                     /gene_synonym="PRO994; SLI5; TCCE518"
                     /note="transmembrane 4 L six family member 20"
                     /db_xref="GeneID:79853"
                     /db_xref="HGNC:HGNC:26230"
                     /db_xref="MIM:615404"
     exon            1..221
                     /gene="TM4SF20"
                     /gene_synonym="PRO994; SLI5; TCCE518"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..728
                     /gene="TM4SF20"
                     /gene_synonym="PRO994; SLI5; TCCE518"
                     /codon_start=1
                     /product="transmembrane 4 L6 family member 20"
                     /protein_id="NP_079071.2"
                     /db_xref="CCDS:CCDS2466.1"
                     /db_xref="GeneID:79853"
                     /db_xref="HGNC:HGNC:26230"
                     /db_xref="MIM:615404"
                     /translation="MTCCEGWTSCNGFSLLVLLLLGVVLNAIPLIVSLVEEDQFSQNP
                     ISCFEWWFPGIIGAGLMAIPATTMSLTARKRACCNNRTGMFLSSLFSVITVIGALYCM
                     LISIQALLKGPLMCNSPSNSNANCEFSLKNISDIHPESFNLQWFFNDSCAPPTGFNKP
                     TSNDTMASGWRASSFHFDSEENKHRLIHFSVFLGLLLVGILEVLFGLSQIVIGFLGCL
                     CGVSKRRSQIV"
     exon            222..287
                     /gene="TM4SF20"
                     /gene_synonym="PRO994; SLI5; TCCE518"
                     /inference="alignment:Splign:2.1.0"
     exon            288..439
                     /gene="TM4SF20"
                     /gene_synonym="PRO994; SLI5; TCCE518"
                     /inference="alignment:Splign:2.1.0"
     exon            440..2414
                     /gene="TM4SF20"
                     /gene_synonym="PRO994; SLI5; TCCE518"
                     /inference="alignment:Splign:2.1.0"
     regulatory      738..743
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TM4SF20"
                     /gene_synonym="PRO994; SLI5; TCCE518"
                     /note="hexamer: AATAAA"
     polyA_site      769
                     /gene="TM4SF20"
                     /gene_synonym="PRO994; SLI5; TCCE518"
                     /note="major polyA site"
ORIGIN      
        1 atagccactt tgacaacgtt tctgagccag gggtgaccat gacctgctgc gaaggatgga
       61 catcctgcaa tggattcagc ctgctggttc tactgctgtt aggagtagtt ctcaatgcga
      121 tacctctaat tgtcagctta gttgaggaag accaattttc tcaaaacccc atctcttgct
      181 ttgagtggtg gttcccagga attataggag caggtctgat ggccattcca gcaacaacaa
      241 tgtccttgac agcaagaaaa agagcgtgct gcaacaacag aactggaatg tttctttcat
      301 cacttttcag tgtgatcaca gtcattggtg ctctgtattg catgctgata tccatccagg
      361 ctctcttaaa aggtcctctc atgtgtaatt ctccaagcaa cagtaatgcc aattgtgaat
      421 tttcattgaa aaacatcagt gacattcatc cagaatcctt caacttgcag tggtttttca
      481 atgactcttg tgcacctcct actggtttca ataaacccac cagtaacgac accatggcga
      541 gtggctggag agcatctagt ttccacttcg attctgaaga aaacaaacat aggcttatcc
      601 acttctcagt atttttaggt ctattgcttg ttggaattct ggaggtcctg tttgggctca
      661 gtcagatagt catcggtttc cttggctgtc tgtgtggagt ctctaagcga agaagtcaaa
      721 ttgtgtagtt taatgggaat aaaatgtaag tatcagtagt ttgaattaat ttgagaagta
      781 cacttgtttt caaagtcatc tttgagatga tttaaaaaat caacccttca cgtagaaagc
      841 acgttgtaaa tgcataacac tctcatatca gtggttgatt tgggaaaggt ggagagaatt
      901 ttcaattagt tttgtgttgt actattcaaa ttttttacct cttcactgtg tgtagagaaa
      961 ggagaaggga aggaggatga gaaggaacgg aagtcatcct gaaaataaaa gtacaggact
     1021 tttttttttt ttttttgaga cagggtctca aaaaaggctg gagtacagta gtacagtggt
     1081 gctatctcag cttactgcag cctcaacctc ctgggctcag gtgattctcc catctcagcc
     1141 tccctagtag ctgggactac aggtgcgtgc cactatgcca agctaatttt tgtattttta
     1201 gtagagatgg gggttttcca tattgcccag gctggtcccg aactcatgga ctcaagtgat
     1261 ctgcctgcct cagcctccta aagtgctgcg attacaggca tgagccatcg cgcctaaagg
     1321 acaggacctt tttattgtat ttctttaaag aataaataca taacctgaat gcaatcaagt
     1381 ctttagatct aattctcagc ttgcagggaa cactaggaca aatccaaaaa gtgggtcagc
     1441 gggcacagaa tggcccaatt ttcaacagga aaatgttata aaagaaaaat atttttgagg
     1501 gaactgttat agattaagag aatagaggca tgtttcagct aaacacatgt aaactttgtc
     1561 agagataatt gggaggagta tgtagaagaa tcggattatt gttaattttg gtaggtctga
     1621 taatggtttt atagtataaa ggctgagtac cccttatcca aaatgattaa gatcagaagt
     1681 gttttggctt tcacattttt ttggattttg gaattttgcc tataataatg agacatcttg
     1741 gggatgggat gcaagtctaa ccacaaaatt catttatgtc tcatacacac tttgaacacc
     1801 tggcctgaag gtaatttcac acaatatttt aaataacttt gtgcatgaaa cacaattttg
     1861 actgcatttt gactgcaact catcacatga ggtcaggtat ggaattttcc acttgtggtg
     1921 ttacgttact ggctcaaaaa gttttggatc tcggagcatt ctggattttg aatttttgga
     1981 ttagtgatgc tcaacctgta tacagaaatg tcctcatttt taaaaaaaga aatgcatatt
     2041 tatatgtttt aaaattactt caaccaaaag caacggggag atgtttactg ttatatttag
     2101 gtgacaggta catggcaatt cattataccc tcctattttc ctatgtttac attattcatt
     2161 aattaaaaaa caatacctag aaaaacccaa gactttcaaa agctattttc tatatgtgcc
     2221 aatctttaaa aaacaggata acaagggtat ttatcacatt aaaatgttgt aaaacagcaa
     2281 agctaaaaat ctaaaatttt ctgaatgtta tttctatatt tcaattgttt atgttcattg
     2341 ggcttaaggt tccagaaata atttgcagta cctacattat agctgcctaa ataaatttag
     2401 taacatcaag agct
//
