LOCUS       NM_017911               2883 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens family with sequence similarity 118 member A
            (FAM118A), transcript variant 2, mRNA.
ACCESSION   NM_017911
VERSION     NM_017911.4
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 2883)
  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 2883)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2883)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   4  (bases 1 to 2883)
  AUTHORS   Zhong,Q., Pevzner,S.J., Hao,T., Wang,Y., Mosca,R., Menche,J.,
            Taipale,M., Tasan,M., Fan,C., Yang,X., Haley,P., Murray,R.R.,
            Mer,F., Gebreab,F., Tam,S., MacWilliams,A., Dricot,A., Reichert,P.,
            Santhanam,B., Ghamsari,L., Calderwood,M.A., Rolland,T.,
            Charloteaux,B., Lindquist,S., Barabasi,A.L., Hill,D.E., Aloy,P.,
            Cusick,M.E., Xia,Y., Roth,F.P. and Vidal,M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2883)
  AUTHORS   Kwan,T., Grundberg,E., Koka,V., Ge,B., Lam,K.C., Dias,C.,
            Kindmark,A., Mallmin,H., Ljunggren,O., Rivadeneira,F., Estrada,K.,
            van Meurs,J.B., Uitterlinden,A., Karlsson,M., Ohlsson,C.,
            Mellstrom,D., Nilsson,O., Pastinen,T. and Majewski,J.
  TITLE     Tissue effect on genetic control of transcript isoform variation
  JOURNAL   PLoS Genet 5 (8), e1000608 (2009)
   PUBMED   19680542
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2883)
  AUTHORS   Collins,J.E., Wright,C.L., Edwards,C.A., Davis,M.P., Grinham,J.A.,
            Cole,C.G., Goward,M.E., Aguado,B., Mallya,M., Mokrab,Y.,
            Huckle,E.J., Beare,D.M. and Dunham,I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   7  (bases 1 to 2883)
  AUTHORS   Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
            Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
            Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
            Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
            Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
            al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL008718.23.
            
            On Nov 22, 2018 this sequence version replaced NM_017911.3.
            
            Transcript Variant: This variant (2) encodes isoform 1. Variants 1
            - 3 encode the same protein (isoform 1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK000642.1, SRR3476690.357049.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000441876.7/ ENSP00000395892.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-250               AL008718.23        131592-131841
            251-306             AL008718.23        144029-144084
            307-559             AL008718.23        144833-145085
            560-781             AL008718.23        149500-149721
            782-910             AL008718.23        152261-152389
            911-1196            AL008718.23        154083-154368
            1197-1229           AL008718.23        157008-157040
            1230-1313           AL008718.23        157986-158069
            1314-2883           AL008718.23        162044-163613
FEATURES             Location/Qualifiers
     source          1..2883
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.31"
     gene            1..2883
                     /gene="FAM118A"
                     /gene_synonym="C22orf8"
                     /note="family with sequence similarity 118 member A"
                     /db_xref="GeneID:55007"
                     /db_xref="HGNC:HGNC:1313"
     exon            1..250
                     /gene="FAM118A"
                     /gene_synonym="C22orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            251..306
                     /gene="FAM118A"
                     /gene_synonym="C22orf8"
                     /inference="alignment:Splign:2.1.0"
     CDS             260..1333
                     /gene="FAM118A"
                     /gene_synonym="C22orf8"
                     /note="isoform 1 is encoded by transcript variant 2;
                     bK268H5.C22.4; protein FAM118A"
                     /codon_start=1
                     /product="protein FAM118A isoform 1"
                     /protein_id="NP_060381.2"
                     /db_xref="CCDS:CCDS14065.1"
                     /db_xref="GeneID:55007"
                     /db_xref="HGNC:HGNC:1313"
                     /translation="MDSVEKTTNRSEQKSRKFLKSLIRKQPQELLLVIGTGVSAAVAP
                     GIPALCSWRSCIEAVIEAAEQLEVLHPGDVAEFRRKVTKDRDLLVVAHDLIRKMSPRT
                     GDAKPSFFQDCLMEVFDDLEQHIRSPVVLQSILSLMDRGAMVLTTNYDNLLEAFGRRQ
                     NKPMESLDLKDKTKVLEWARGHMKYGVLHIHGLYTDPCGVVLDPSGYKDVTQDAEVME
                     VLQNLYRTKSFLFVGCGETLRDQIFQALFLYSVPNKVDLEHYMLVLKENEDHFFKHQA
                     DMLLHGIKVVSYGDCFDHFPGYVQDLATQICKQQSPDADRVDSTTLLGNACQDCAKRK
                     LEENGIEVSKKRTQSDTDDAGGS"
     exon            307..559
                     /gene="FAM118A"
                     /gene_synonym="C22orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            560..781
                     /gene="FAM118A"
                     /gene_synonym="C22orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            782..910
                     /gene="FAM118A"
                     /gene_synonym="C22orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            911..1196
                     /gene="FAM118A"
                     /gene_synonym="C22orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            1197..1229
                     /gene="FAM118A"
                     /gene_synonym="C22orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            1230..1313
                     /gene="FAM118A"
                     /gene_synonym="C22orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            1314..2883
                     /gene="FAM118A"
                     /gene_synonym="C22orf8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1668..1673
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM118A"
                     /gene_synonym="C22orf8"
                     /note="hexamer: AATAAA"
     polyA_site      1687
                     /gene="FAM118A"
                     /gene_synonym="C22orf8"
     regulatory      2865..2870
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM118A"
                     /gene_synonym="C22orf8"
                     /note="hexamer: AATAAA"
     polyA_site      2883
                     /gene="FAM118A"
                     /gene_synonym="C22orf8"
                     /note="major polyA site"
ORIGIN      
        1 gcggcggcgc cgctgccggc taacgcggag gggcgcctgg aggcggcgtg gcgtccgctc
       61 tggctccgac tccggctctc gctctcgctt ctagcccgcg tgcctgcgca gtcccctccc
      121 cgagaaccat ccccttgccc cgcccagcgt caggggtgcg cggccgccga gagaccccgg
      181 aggcgtagcc ggctgcggag gcgaagaggt ggcagcgcga gctgggacca gcgtctcgga
      241 ggcgccgcag aattcacaga tggattcagt ggaaaagaca acaaatagaa gtgaacaaaa
      301 atccagaaag tttttaaaaa gcctcatccg gaaacagccc caggaactgc tcctggttat
      361 cgggactggc gtcagcgcag cagtggcccc cggaatccct gccctttgct cgtggagaag
      421 ctgcatcgag gccgtcatcg aggctgcaga gcagctggag gtgctgcacc ccggagacgt
      481 cgccgagttc cggaggaaag tgacaaagga ccgggacctg ttggttgtcg cccatgatct
      541 gatccggaag atgtcacctc gcacaggcga tgccaagccc agcttcttcc aggactgcct
      601 gatggaggtg tttgacgacc tggagcagca catccggagt cctgtggtgc tgcagtcgat
      661 cctcagcctg atggacaggg gcgccatggt cctgaccacc aactatgaca acctgctgga
      721 ggcctttggc cggcggcaga acaagcccat ggagtccctg gacttgaagg acaagaccaa
      781 ggtccttgaa tgggcaagag ggcacatgaa gtacggcgtc ctccacattc acggcctcta
      841 cacggacccc tgcggggtgg tgctggaccc atcggggtat aaagacgtca ctcaagacgc
      901 agaagtcatg gaagtcctcc agaacttata ccgcaccaag tcctttctgt ttgtgggctg
      961 tggggagacc cttcgtgatc agatattcca ggccctcttt ctttactccg tgccgaataa
     1021 ggtggatttg gagcactaca tgcttgtgct gaaggagaat gaagaccatt tctttaagca
     1081 tcaggcagat atgcttctgc acggaatcaa agttgtatcc tacggggact gttttgacca
     1141 ctttccagga tatgtgcaag accttgccac tcagatctgc aaacagcaaa gcccagatgc
     1201 tgatcgcgtg gacagcacca cattattggg taatgcatgc caggactgtg caaagaggaa
     1261 gttagaagag aatggaattg aagtttcaaa aaaacgcaca caatcagata ctgatgatgc
     1321 tggagggtct tgaaatcttt acagtaaaac ctgcaacttg aaaactagcc ttctgtaacc
     1381 acagtgccca aacgaagagg aatgtatgga gaactccacg tggatctctg attgcgaaac
     1441 cgtcacatac accaagagag ccacatgggc atgtggccct caaggctggg tgagagggct
     1501 cccctgtgtg ttgaactatg caggagggtg acgcggacac atttcaggtg gactttgcaa
     1561 ggactgatgg atagctacct cagggaccag aatccgtggg aagggatgga cctggtgttc
     1621 ccgttcccat ctgacaggct ctcttttgtc aaggtggtat ttttcgtaat aaaaggggaa
     1681 gagtaaagac tgtccaagca acagtagctg ccaaagagaa aatacgaaat agacactttt
     1741 tttttttgag tcagagtctc actctgtcac ccaggacaga gtgcagtggt acgatctcaa
     1801 gctcactgca gccaccaccg cctgggctca agtgattctc ctgcctcagc ctcccgagta
     1861 gctgggatta caggcgtcca ccaccatgcc cagctaattt ttttattttt agtagagttg
     1921 gagtttcacc atgttggcca ggatggtctc gaactcttga cctcaggtga tccacccgcc
     1981 ttggcctccc aaagtgctag gattacaggc atgagccact gcgcccagca aaataaacac
     2041 attttataat ttgtatgtgg aaacatgtta ctatagaaag cattttaaag gtacgtttta
     2101 aaggtccact gttaaatagt aaagaatgaa tccgctagcg aaaatgtttt tagggagaac
     2161 agctggatca aaagggcttc tttggaatta ggttgtttta gtaacttctg ttccaaagaa
     2221 acacaggtct gatattgcta agaactgaaa tcggaggagc cagaggccct tttcagtcca
     2281 ggccaacatt gtgcacggcc actgtgggac tgacaaccgg gatagctcaa gttcgagaga
     2341 ccaggtttca aacattataa gttccaggct ttgcaagtct ttattctctg gggtaatatc
     2401 cagtctttct gttattgtct cttaaaattc tcttccatgg cccacattaa gggagtttgc
     2461 agagagtgag ggaggcaaaa cttgaaaagg gcctgcaaca ctttaaacct tctcaggttc
     2521 acccacatga aacggctgtg ctgagtgtgc tgccggtgcc cggggagctt ctctgactgt
     2581 gacccggcag aggcttctgt ggcggtgcat gagcggccct acagtggagg gttctctttg
     2641 gaaacaaaca gccctgcttg gtttcagttt gaggccactt atcttcaatg tgacatttct
     2701 tgccaagccc tgtgacactc cccattgatg actcccatag gtacagataa agttaagaac
     2761 aggaaacaga agggtaggat gcatagggag ggagagaagc cctgaaaact ttttttttct
     2821 ttttgaagca tggaaaacaa atcttttatg ccactccagc cataaataaa attttaactt
     2881 caa
//
