LOCUS       NM_030651               1892 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens proline rich transmembrane protein 1 (PRRT1),
            transcript variant 1, mRNA.
ACCESSION   NM_030651
VERSION     NM_030651.4
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 1892)
  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 1892)
  AUTHORS   Lauc,G., Huffman,J.E., Pucic,M., Zgaga,L., Adamczyk,B., Muzinic,A.,
            Novokmet,M., Polasek,O., Gornik,O., Kristic,J., Keser,T.,
            Vitart,V., Scheijen,B., Uh,H.W., Molokhia,M., Patrick,A.L.,
            McKeigue,P., Kolcic,I., Lukic,I.K., Swann,O., van Leeuwen,F.N.,
            Ruhaak,L.R., Houwing-Duistermaat,J.J., Slagboom,P.E., Beekman,M.,
            de Craen,A.J., Deelder,A.M., Zeng,Q., Wang,W., Hastie,N.D.,
            Gyllensten,U., Wilson,J.F., Wuhrer,M., Wright,A.F., Rudd,P.M.,
            Hayward,C., Aulchenko,Y., Campbell,H. and Rudan,I.
  TITLE     Loci associated with N-glycosylation of human immunoglobulin G show
            pleiotropy with autoimmune diseases and haematological cancers
  JOURNAL   PLoS Genet 9 (1), e1003225 (2013)
   PUBMED   23382691
REFERENCE   3  (bases 1 to 1892)
  AUTHORS   Rubicz,R., Yolken,R., Drigalenko,E., Carless,M.A., Dyer,T.D.,
            Bauman,L., Melton,P.E., Kent,J.W. Jr., Harley,J.B., Curran,J.E.,
            Johnson,M.P., Cole,S.A., Almasy,L., Moses,E.K., Dhurandhar,N.V.,
            Kraig,E., Blangero,J., Leach,C.T. and Goring,H.H.
  TITLE     A genome-wide integrative genomic study localizes genetic factors
            influencing antibodies against Epstein-Barr virus nuclear antigen 1
            (EBNA-1)
  JOURNAL   PLoS Genet 9 (1), e1003147 (2013)
   PUBMED   23326239
REFERENCE   4  (bases 1 to 1892)
  AUTHORS   Sallman Almen,M., Bringeland,N., Fredriksson,R. and Schioth,H.B.
  TITLE     The dispanins: a novel gene family of ancient origin that contains
            14 human members
  JOURNAL   PLoS One 7 (2), e31961 (2012)
   PUBMED   22363774
REFERENCE   5  (bases 1 to 1892)
  AUTHORS   Barcellos,L.F., May,S.L., Ramsay,P.P., Quach,H.L., Lane,J.A.,
            Nititham,J., Noble,J.A., Taylor,K.E., Quach,D.L., Chung,S.A.,
            Kelly,J.A., Moser,K.L., Behrens,T.W., Seldin,M.F., Thomson,G.,
            Harley,J.B., Gaffney,P.M. and Criswell,L.A.
  TITLE     High-density SNP screening of the major histocompatibility complex
            in systemic lupus erythematosus demonstrates strong evidence for
            independent susceptibility regions
  JOURNAL   PLoS Genet 5 (10), e1000696 (2009)
   PUBMED   19851445
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 1892)
  AUTHORS   McKinnon,E., Morahan,G., Nolan,D. and James,I.
  CONSRTM   Diabetes Genetics Consortium
  TITLE     Association of MHC SNP genotype with susceptibility to type 1
            diabetes: a modified survival approach
  JOURNAL   Diabetes Obes Metab 11 Suppl 1 (Suppl 1), 92-100 (2009)
   PUBMED   19143821
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   7  (bases 1 to 1892)
  AUTHORS   Vignal,C., Bansal,A.T., Balding,D.J., Binks,M.H., Dickson,M.C.,
            Montgomery,D.S. and Wilson,A.G.
  TITLE     Genetic association of the major histocompatibility complex with
            rheumatoid arthritis implicates two non-DRB1 loci
  JOURNAL   Arthritis Rheum 60 (1), 53-62 (2009)
   PUBMED   19116923
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1892)
  AUTHORS   Xie,T., Rowen,L., Aguado,B., Ahearn,M.E., Madan,A., Qin,S.,
            Campbell,R.D. and Hood,L.
  TITLE     Analysis of the gene-dense major histocompatibility complex class
            III region and its comparison to mouse
  JOURNAL   Genome Res 13 (12), 2621-2636 (2003)
   PUBMED   14656967
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK054885.1 and BC063046.1.
            
            On Nov 22, 2018 this sequence version replaced NM_030651.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.92396.1, AK054885.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000211413.10/ ENSP00000211413.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-170               AK054885.1         5-174
            171-1892            BC063046.1         123-1844
FEATURES             Location/Qualifiers
     source          1..1892
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.32"
     gene            1..1892
                     /gene="PRRT1"
                     /gene_synonym="C6orf31; DSPD1; IFITMD7; NG5; SynDIG4"
                     /note="proline rich transmembrane protein 1"
                     /db_xref="GeneID:80863"
                     /db_xref="HGNC:HGNC:13943"
                     /db_xref="MIM:618297"
     exon            1..131
                     /gene="PRRT1"
                     /gene_synonym="C6orf31; DSPD1; IFITMD7; NG5; SynDIG4"
                     /inference="alignment:Splign:2.1.0"
     CDS             113..1033
                     /gene="PRRT1"
                     /gene_synonym="C6orf31; DSPD1; IFITMD7; NG5; SynDIG4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     interferon induced transmembrane protein domain containing
                     7; dispanin subfamily D member 1; synapse
                     differentiation-induced protein 4"
                     /codon_start=1
                     /product="proline-rich transmembrane protein 1 isoform 1"
                     /protein_id="NP_085154.3"
                     /db_xref="CCDS:CCDS4739.1"
                     /db_xref="GeneID:80863"
                     /db_xref="HGNC:HGNC:13943"
                     /db_xref="MIM:618297"
                     /translation="MSSEKSGLPDSVPHTSPPPYNAPQPPAEPPAPPPQAAPSSHHHH
                     HHHYHQSGTATLPRLGAGGLASSAATAQRGPSSSATLPRPPHHAPPGPAAGAPPPGCA
                     TLPRMPPDPYLQETRFEGPLPPPPPAAAAPPPPAPAQTAQAPGFVVPTHAGTVGTLPL
                     GGYVAPGYPLQLQPCTAYVPVYPVGTPYAGGTPGGTGVTSTLPPPPQGPGLALLEPRR
                     PPHDYMPIAVLTTICCFWPTGIIAIFKAVQVRTALARGDMVSAEIASREARNFSFISL
                     AVGIAAMVLCTILTVVIIIAAQHHENYWDP"
     exon            132..670
                     /gene="PRRT1"
                     /gene_synonym="C6orf31; DSPD1; IFITMD7; NG5; SynDIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            671..856
                     /gene="PRRT1"
                     /gene_synonym="C6orf31; DSPD1; IFITMD7; NG5; SynDIG4"
                     /inference="alignment:Splign:2.1.0"
     exon            857..1892
                     /gene="PRRT1"
                     /gene_synonym="C6orf31; DSPD1; IFITMD7; NG5; SynDIG4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1874..1879
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRRT1"
                     /gene_synonym="C6orf31; DSPD1; IFITMD7; NG5; SynDIG4"
                     /note="hexamer: ATTAAA"
     polyA_site      1892
                     /gene="PRRT1"
                     /gene_synonym="C6orf31; DSPD1; IFITMD7; NG5; SynDIG4"
                     /note="major polyA site"
ORIGIN      
        1 atctctccat ctctgcgctg ctgccggctg cgccatccag cacccagact ccagcaccgg
       61 ccgaggaccc ccactccggc tgcagggacc ctgtcccagc gagaccgcag gcatgtcatc
      121 cgaaaagtca ggactcccag actcagtccc tcacacttct ccgccgccct acaatgcccc
      181 tcagcctcca gccgaacccc cagccccacc gccacaggca gccccttcct cacaccatca
      241 ccaccaccac cactaccatc agtctggcac cgccaccctc ccgcgcttag gggcaggggg
      301 cctggcctct tccgcggcca ccgctcagcg cggtccctcc tcctctgcca cgctgccgag
      361 gcccccccac cacgcccctc ccggccctgc tgccggggca cccccacccg gctgcgctac
      421 cttgccccgc atgccacccg acccttacct gcaggagact cgcttcgagg gcccacttcc
      481 cccgccgccg cccgctgccg ccgccccgcc cccgccggcg ccagcccaga ctgcccaggc
      541 ccctggcttc gtggtgccca cgcacgcggg gactgtgggc acgctgccgc tggggggcta
      601 cgtagcgccc ggataccccc tgcagctgca gccttgcact gcttacgtgc cggtctaccc
      661 ggtgggcacg ccatatgcag gcgggacccc ggggggaaca ggagtgacct ccactctccc
      721 cccgccgccc cagggcccag ggctggccct actggagccg aggcgcccgc cacacgacta
      781 catgcccatc gcggtgctga ccaccatctg ttgcttctgg cctactggca tcattgccat
      841 cttcaaggcc gtgcaggtgc gcacggcctt ggcccgcgga gacatggtgt cggccgagat
      901 cgcttcacgc gaggcccgga acttctcctt catctccctg gccgtgggca tcgcggccat
      961 ggtgctctgt accatcctca ccgtagtcat catcatcgcc gcgcagcacc acgagaacta
     1021 ctgggatccc taaaaacgcc cctggtccgg ccccactctg cgcccctcga tctcccaggc
     1081 tctttctgca gtcataccgc ggacccaatg ggcgccctgc acacccgttt ctggggccgt
     1141 cagacttgga tacatcgtaa actccgcctc cacggaacgt ctcgccttgc gagcaagctc
     1201 ggaatccagt tcctcaggaa cccctccaaa acccacaccc ccagggacgc cgctttccgg
     1261 gatcccggcc aaacgccgga ccctcagtcg ctccaggccc cctcaccctc aaagtgtagc
     1321 gcccccaacc gagcaacctc ggtttggtcc ctaaaacccc gcctcctcta taagcaccgc
     1381 cccagctctg acaaaacccc gcctccaggt cggcaggctc cgccttcttt tcttctccgc
     1441 ggggtgattc agtccagtga ttgggtttgt ggctccaggc ctcgcccaca gacggacaga
     1501 cccctccctt tcttccggca aaaggaccga gccctggggt agtaaggccc ccacactcct
     1561 gttttttgca agtacatttt tgtccctcct ccacccaggt atctgcctat tttcttgcta
     1621 atcccagaac ctttcctttt gcttttttta aggacatttg ggaagttcct ggtgtaggac
     1681 ccttctccct gggataagaa acctgcctgt aaacgctctg taaatactcc cttccaccca
     1741 tcccagcccc tgggcagccg ggcagaaggg aatccaggct atggacctcc caagtccccg
     1801 ctccccgctc ccctcggcgg ccccgccttg ttctgatctg tgtgtgagtg tgtgtgaact
     1861 tctgaaagac aatattaaag agacttagtt ga
//
