LOCUS       NM_017994               4229 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens transmembrane protein 248 (TMEM248), mRNA.
ACCESSION   NM_017994
VERSION     NM_017994.5
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 4229)
  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 4229)
  AUTHORS   Lu,Y., Vitart,V., Burdon,K.P., Khor,C.C., Bykhovskaya,Y.,
            Mirshahi,A., Hewitt,A.W., Koehn,D., Hysi,P.G., Ramdas,W.D.,
            Zeller,T., Vithana,E.N., Cornes,B.K., Tay,W.T., Tai,E.S.,
            Cheng,C.Y., Liu,J., Foo,J.N., Saw,S.M., Thorleifsson,G.,
            Stefansson,K., Dimasi,D.P., Mills,R.A., Mountain,J., Ang,W.,
            Hoehn,R., Verhoeven,V.J., Grus,F., Wolfs,R., Castagne,R.,
            Lackner,K.J., Springelkamp,H., Yang,J., Jonasson,F., Leung,D.Y.,
            Chen,L.J., Tham,C.C., Rudan,I., Vatavuk,Z., Hayward,C., Gibson,J.,
            Cree,A.J., MacLeod,A., Ennis,S., Polasek,O., Campbell,H.,
            Wilson,J.F., Viswanathan,A.C., Fleck,B., Li,X., Siscovick,D.,
            Taylor,K.D., Rotter,J.I., Yazar,S., Ulmer,M., Li,J., Yaspan,B.L.,
            Ozel,A.B., Richards,J.E., Moroi,S.E., Haines,J.L., Kang,J.H.,
            Pasquale,L.R., Allingham,R.R., Ashley-Koch,A., Mitchell,P.,
            Wang,J.J., Wright,A.F., Pennell,C., Spector,T.D., Young,T.L.,
            Klaver,C.C., Martin,N.G., Montgomery,G.W., Anderson,M.G., Aung,T.,
            Willoughby,C.E., Wiggs,J.L., Pang,C.P., Thorsteinsdottir,U.,
            Lotery,A.J., Hammond,C.J., van Duijn,C.M., Hauser,M.A.,
            Rabinowitz,Y.S., Pfeiffer,N., Mackey,D.A., Craig,J.E., Macgregor,S.
            and Wong,T.Y.
  CONSRTM   NEIGHBOR Consortium
  TITLE     Genome-wide association analyses identify multiple loci associated
            with central corneal thickness and keratoconus
  JOURNAL   Nat Genet 45 (2), 155-163 (2013)
   PUBMED   23291589
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK222774.1, BC012562.1 and AC079920.6.
            
            On Nov 22, 2018 this sequence version replaced NM_017994.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.73632.1,
                                           SRR1660807.11846.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000341567.8/ ENSP00000340668.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-837               AK222774.1         10-846
            838-1678            BC012562.1         842-1682
            1679-4229           AC079920.6         19559-22109
FEATURES             Location/Qualifiers
     source          1..4229
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.21"
     gene            1..4229
                     /gene="TMEM248"
                     /gene_synonym="C7orf42"
                     /note="transmembrane protein 248"
                     /db_xref="GeneID:55069"
                     /db_xref="HGNC:HGNC:25476"
     exon            1..237
                     /gene="TMEM248"
                     /gene_synonym="C7orf42"
                     /inference="alignment:Splign:2.1.0"
     exon            238..414
                     /gene="TMEM248"
                     /gene_synonym="C7orf42"
                     /inference="alignment:Splign:2.1.0"
     CDS             256..1200
                     /gene="TMEM248"
                     /gene_synonym="C7orf42"
                     /note="UPF0458 protein C7orf42"
                     /codon_start=1
                     /product="transmembrane protein 248"
                     /protein_id="NP_060464.1"
                     /db_xref="CCDS:CCDS5536.1"
                     /db_xref="GeneID:55069"
                     /db_xref="HGNC:HGNC:25476"
                     /translation="MFSINPLENLKVYISSRPPLVVFMISVSAMAIAFLTLGYFFKIK
                     EIKSPEMAEDWNTFLLRFNDLDLCVSENETLKHLTNDTTTPESTMTSGQARASTQSPQ
                     ALEDSGPVNISVSITLTLDPLKPFGGYSRNVTHLYSTILGHQIGLSGREAHEEINITF
                     TLPTAWSSDDCALHGHCEQVVFTACMTLTASPGVFPVTVQPPHCVPDTYSNATLWYKI
                     FTTARDANTKYAQDYNPFWCYKGAIGKVYHALNPKLTVIVPDDDRSLINLHLMHTSYF
                     LFVMVITMFCYAVIKGRPSKLRQSNPEFCPEKVALAEA"
     exon            415..700
                     /gene="TMEM248"
                     /gene_synonym="C7orf42"
                     /inference="alignment:Splign:2.1.0"
     exon            701..851
                     /gene="TMEM248"
                     /gene_synonym="C7orf42"
                     /inference="alignment:Splign:2.1.0"
     exon            852..1035
                     /gene="TMEM248"
                     /gene_synonym="C7orf42"
                     /inference="alignment:Splign:2.1.0"
     exon            1036..1179
                     /gene="TMEM248"
                     /gene_synonym="C7orf42"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..4229
                     /gene="TMEM248"
                     /gene_synonym="C7orf42"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1806..1811
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM248"
                     /gene_synonym="C7orf42"
                     /note="hexamer: AATAAA"
     polyA_site      1831
                     /gene="TMEM248"
                     /gene_synonym="C7orf42"
     regulatory      4211..4216
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM248"
                     /gene_synonym="C7orf42"
                     /note="hexamer: AATAAA"
     polyA_site      4229
                     /gene="TMEM248"
                     /gene_synonym="C7orf42"
                     /note="major polyA site"
ORIGIN      
        1 acccggaaac cgcggttgcc ggagcccgaa ctgaggcggc ggcgggagcc cggttggcgt
       61 ctggtcttcg cgtcggcccc gcggagccag acgctgcccc cggcgcgggg agaagatggt
      121 gcctagcggc ctcgggcccg ccacgcgccg ccacgagtga gcccagcgcg accgcgggcg
      181 tccgccgagc agctggcccg gctgggcccg gggcgcgcag ctgcccgccg gggcggggtg
      241 gagctgatca gaataatgtt cagcatcaac cccctggaga acctgaaggt gtacatcagc
      301 agtcggcctc ccctggtggt cttcatgatc agcgtaagcg ccatggccat agctttcctg
      361 accctgggct acttcttcaa aatcaaggag attaaatccc cagaaatggc agaggattgg
      421 aatacttttc tgctacggtt caatgatttg gacttgtgtg tatcagagaa tgaaaccctc
      481 aagcatctca caaacgacac cacaactccg gaaagtacaa tgaccagcgg gcaggcccga
      541 gcttccaccc agtcccccca ggccctggag gactcgggcc cggtgaatat ctcagtctca
      601 atcaccctaa ccctggaccc actgaaaccc ttcggagggt attcccgcaa cgtcacccat
      661 ctgtactcaa ccatcttagg gcatcagatt ggactttcag gcagggaagc ccacgaggag
      721 ataaacatca ccttcaccct gcctacagcg tggagctcag atgactgcgc cctccacggt
      781 cactgtgagc aggtggtatt cacagcctgc atgaccctca cggccagccc tggggtgttc
      841 cccgtcactg tacagccacc gcactgtgtt cctgacacgt acagcaacgc cacgctctgg
      901 tacaagatct tcacaactgc cagagatgcc aacacaaaat acgcccaaga ttacaatcct
      961 ttctggtgtt ataagggggc cattggaaaa gtctatcatg ctttaaatcc caagcttaca
     1021 gtgattgttc cagatgatga ccgttcatta ataaatttgc atctcatgca caccagttac
     1081 ttcctctttg tgatggtgat aacaatgttt tgctatgctg ttatcaaggg cagacctagc
     1141 aaattgcgtc agagcaatcc tgaattttgt cccgagaagg tggctttggc tgaagcctaa
     1201 ttccacagct ccttgttttt tgagagagac tgagagaacc ataatccttg cctgctgaac
     1261 ccagcctggg cctggatgct ctgtgaatac attatcttgc gatgttgggt tattccagcc
     1321 aaagacattt caagtgcctg taactgattt gtacatattt ataaaaatct attcagaaat
     1381 tggtccaata atgcacgtgc tttgccctgg gtacagccag agcccttcaa ccccaccttg
     1441 gacttgagga cctacctgat gggacgtttc cacgtgtctc tagagaagga ttcctggatc
     1501 tagctggtca cgacgatgtt ttcaccaagg tcacaggagc attgcgtcgc tgatggggtt
     1561 gaagtttggt ttggttcttg tttcagccca atatgtagag aacatttgaa acagtctgca
     1621 cctttgatac ggtattgcat ttccaaagcc accaatccat tttgtggatt ttatgtgttt
     1681 gtggcttaat aatcatagta acaacaataa tacctttttc tccattttgc ttgcaggaaa
     1741 cataccttaa gttttttttg ttttgttttt gtttttttgt tttttgtttt cctttatgaa
     1801 gaaaaaataa aatagtcaca ttttaatact actctagtta ggacagactt gtgcttttat
     1861 cctgactaaa aagttaaata tttaagtcac atacatggta aagatctaag tttcattttc
     1921 cacatggatg accaggaacc tggtcttgtt ggagctggca taggaggttc tactgtcttg
     1981 tcgtccactc ttgtccctcc cttctgttat caaagttaaa gcgcctcttc actcaaaagg
     2041 gcttcaaaat gtaaatggct ctagagttag agtgactgtt tgctcttctg ctttctggaa
     2101 tgcagatgac agtatggaaa gaaagaataa tgattctatc taataggaaa ggatttcttc
     2161 tttctttttt aaagagtggg tggattttct cccttttgtt ttgcttttat tttcatgcta
     2221 ctaacatatc ttcagaagga aatggcaact agtagatcag taaaattacg aaaacgatgc
     2281 ctgcaaaatt tgaaggaatg caattctgat ttgccattta tcagggaaaa ctgaaagcat
     2341 ttttcttata actttttttc tttttctttt tttttggagg ggggaggcag ggtcttgctc
     2401 tgtccctcag gctggagctt agctcagtgc agcctccaac tcctgggctc aagcaatcct
     2461 cccactttag cctcctgagt agctgggact acaggcgtgt gccagcgcgc ctggctaatt
     2521 ttaaaatttt tttgtagaga cagagtctcc ctctgttgcc caggctggtc tggaactcct
     2581 agcttcaaat gatcctctca cctcggcctc ccaaaatcct gggattccag gcgtcagcca
     2641 ctgctctcgg ccctcttaca ccattttgtt tgattgtcta gtccctgttt ctttttcttt
     2701 ctaatcctta ttcatttaag caaaaccata cattatcttt tccagtcctt tcttgtattc
     2761 ttactgtttt tttaaaataa ctttttgcct taatagctca ttgtcactaa taacttctgt
     2821 gttctcccag gcagtgttat aacagaaggg caatgaaaac attggacatg accatgagtg
     2881 cttcctttcc ttaactctag gtttgtagtc tgttttaaat taggattagt tcctgcattc
     2941 tgaaatacat tggcctagaa cattttatcc caggcatttt tgaatagaaa acagttgcgt
     3001 gcttttattg aagattgtta aaataatcac catagtaact tgatatgtta gtatttttct
     3061 ttttcctttt agtatgtttc aagtgcagta atcgtacttg tctatccagt ttctatgtat
     3121 gatacgagtt gcttacacga tgcatggcta acttgttaat ttagttttct ccttagagac
     3181 tttgagaccc ttaagagaca agattgagaa agagccatgt ggcttggctc tagaaacgtc
     3241 attatcatta ggaccatcag attttagatt aagctgctat tgaattaata aaatcccaat
     3301 gaagcagagt tatagggata gatttatagc tggcagagtg gtatcaaagg agaaaaacag
     3361 tgaaaaagcc aatttcactg gttcgttcaa tccagcttgt tgctaatatt agttaccctt
     3421 gttttaatga cagagagtgg ctggaatctg tagctagggg aggggcaaca ctgttagatg
     3481 tgaggaaagg aagtgccaaa aatgcctgga cagatggctt gtcccaaggc caggacacac
     3541 actttaaaat ccaacattca cctaagcaag taattcttaa agatcttaca gaaacgcaga
     3601 gtcaatcagg tttataaagg aaggctgagg ggagagagga ggcctggggg cctggacgaa
     3661 gaggcctagg acctgaagag actccagcga gtctcgggaa gcccagggga cctgtcacca
     3721 tctgggcact tcccaggctc aatgctcagc cagagtttgc tggtggacct caggattcga
     3781 agtgtgcaac agacggagtg cgcttgctgt tcagggcggc cccgtgcagg agcaccagct
     3841 caccctcagg catctcggac tggagggcca gcagaaggtc agcaacttac tcttaaaacg
     3901 attgtttcgg atcatattga tctctttcct ttttcctttt gtcctttcac tgtatgactt
     3961 gaatcagttt tgattctatt tgtaagtgtt tcttgtcgtg aggcacctgc catgtctgtt
     4021 gcgttttcct cggcagcgtg tagggcttca gcttcctggg ttttcaccct tcctgcaggc
     4081 actgtggggt cctgagggcc agtgggtcca tttcacctct tgctgcatga tggtcagtag
     4141 ctgatctgtt atggcattca cttccagatt aattttccgt gtttgaagta tgtgcatatg
     4201 tgctttacag aataaaacat ctgaattta
//
