LOCUS       NM_001278629            1994 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens chromosome 9 open reading frame 43 (C9orf43),
            transcript variant 2, mRNA.
ACCESSION   NM_001278629
VERSION     NM_001278629.2
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 1994)
  AUTHORS   Grossmann,A., Benlasfer,N., Birth,P., Hegele,A., Wachsmuth,F.,
            Apelt,L. and Stelzl,U.
  TITLE     Phospho-tyrosine dependent protein-protein interaction network
  JOURNAL   Mol Syst Biol 11 (3), 794 (2015)
   PUBMED   25814554
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1994)
  AUTHORS   Letra,A., Menezes,R., Govil,M., Fonseca,R.F., McHenry,T.,
            Granjeiro,J.M., Castilla,E.E., Orioli,I.M., Marazita,M.L. and
            Vieira,A.R.
  TITLE     Follow-up association studies of chromosome region 9q and
            nonsyndromic cleft lip/palate
  JOURNAL   Am J Med Genet A 152A (7), 1701-1710 (2010)
   PUBMED   20583170
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 1994)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK313867.1 and AL137066.15.
            
            On Jun 2, 2019 this sequence version replaced NM_001278629.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            represents use of an alternate promoter, compared to variant 1.
            Both variants 1 and 2 encode the same isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.323124.1, BC033037.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374165.6/ ENSP00000363280.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-974               AK313867.1         93-1066
            975-975             AL137066.15        96902-96902
            976-1690            AK313867.1         1068-1782
            1691-1994           AL137066.15        102109-102412
FEATURES             Location/Qualifiers
     source          1..1994
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q32"
     gene            1..1994
                     /gene="C9orf43"
                     /note="chromosome 9 open reading frame 43"
                     /db_xref="GeneID:257169"
                     /db_xref="HGNC:HGNC:23570"
     exon            1..255
                     /gene="C9orf43"
                     /inference="alignment:Splign:2.1.0"
     exon            256..455
                     /gene="C9orf43"
                     /inference="alignment:Splign:2.1.0"
     CDS             305..1690
                     /gene="C9orf43"
                     /note="isoform 1 is encoded by transcript variant 2;
                     uncharacterized protein C9orf43"
                     /codon_start=1
                     /product="uncharacterized protein C9orf43 isoform 1"
                     /protein_id="NP_001265558.1"
                     /db_xref="CCDS:CCDS6796.1"
                     /db_xref="GeneID:257169"
                     /db_xref="HGNC:HGNC:23570"
                     /translation="MDLPDESQWDETTCGLAVCQHPQCWATIRRIERGHPRILGSSCK
                     TPLDAEDKLPVLTVVDILDSGFAAHHLPECTFTKAHSLLSQSSKFYSKFHGRPPKGLP
                     DKSLINCTNRLPKFPVLNLNETQLPCPEDVRNMVVLWIPEETEIHVSQHGKKKRKNSA
                     VKSKSFLGLSGNQSAGTRVGTPGMIVPPPTPVQLSEQFSSDFLPLWAQSEALPQDLLK
                     ELLPGGKQTMLCPEMKIKLAMMKKNLPLEKNRPDSVISSKMFLSIHRLTLERPALRYP
                     ERLKKLHNLKTEGYRKQQQRQQQQQQQQKKVKTPIKKQEAKKKAKSDPGIQSTSHKHP
                     VTTVHDRLYGYRTLPGQNSDMKQQQQMEKGTTSKQDSTERPKMNYYDHADFHHSVKSP
                     ELYETEPTNKDISAPVDAVPEAQAARQKKISFNFSEIMASTGWNSELKLLRILQDTDD
                     EDEEDQSSGAE"
     exon            456..591
                     /gene="C9orf43"
                     /inference="alignment:Splign:2.1.0"
     exon            592..649
                     /gene="C9orf43"
                     /inference="alignment:Splign:2.1.0"
     exon            650..750
                     /gene="C9orf43"
                     /inference="alignment:Splign:2.1.0"
     exon            751..787
                     /gene="C9orf43"
                     /inference="alignment:Splign:2.1.0"
     exon            788..960
                     /gene="C9orf43"
                     /inference="alignment:Splign:2.1.0"
     exon            961..1111
                     /gene="C9orf43"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1169
                     /gene="C9orf43"
                     /inference="alignment:Splign:2.1.0"
     exon            1170..1246
                     /gene="C9orf43"
                     /inference="alignment:Splign:2.1.0"
     exon            1247..1334
                     /gene="C9orf43"
                     /inference="alignment:Splign:2.1.0"
     exon            1335..1411
                     /gene="C9orf43"
                     /inference="alignment:Splign:2.1.0"
     exon            1412..1475
                     /gene="C9orf43"
                     /inference="alignment:Splign:2.1.0"
     exon            1476..1994
                     /gene="C9orf43"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1888..1893
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C9orf43"
                     /note="hexamer: AATAAA"
     polyA_site      1906
                     /gene="C9orf43"
                     /note="major polyA site"
     regulatory      1967..1972
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C9orf43"
                     /note="hexamer: ATTAAA"
     polyA_site      1994
                     /gene="C9orf43"
                     /note="major polyA site"
ORIGIN      
        1 aggacccgag gcaggctctg ggcccgccgg gtccgttaat ctcaccgcgc cgcaaggggc
       61 cacgttttac cacttgattt agcaacccta agcggtttgg aatctgcttt gctctcacag
      121 gacctcagcc cgtcgtgatc agattctccc actttctttt ttctttcctg gaatggagtg
      181 ggcagtcttt ttccatctct accgaagttg atgttcattt ttaatctttt cgcccctcac
      241 gcttttgtaa taatgagcac tagaatgctg cagggttggc ctttggccta aaccatttct
      301 agctatggac ttgccagatg agagccagtg ggacgaaacc acctgtggct tggctgtttg
      361 tcagcaccca caatgctggg caactatccg ccgcattgag aggggccatc ctcgaatcct
      421 cggctcatcc tgcaaaactc ccctggatgc tgaagataaa ctcccagtgc tcaccgtggt
      481 agacatctta gattccggct ttgcagctca tcatttacca gaatgtacct ttactaaggc
      541 ccattcttta ttgtctcaga gttcaaagtt ttactccaaa tttcatggca ggcctccgaa
      601 gggtttacct gacaaaagtt tgatcaactg tactaacaga cttcccaaat ttccagtgtt
      661 gaatttgaat gagacgcaac ttccctgccc tgaagatgtt agaaatatgg ttgtattgtg
      721 gatcccagaa gaaacagaga tacatgtgag ccagcatggg aagaagaaaa gaaagaactc
      781 ggcagtgaaa agcaagtcat ttctgggtct ctctggaaat cagtccgcag gaacacgagt
      841 aggaacacca gggatgatcg tgcctccccc aaccccagtg caattgtctg aacaattcag
      901 ttcagatttc ctacctctct gggctcaatc cgaagcgtta cctcaggatc tactgaagga
      961 acttttgcca ggtggaaagc aaaccatgct ctgtccagag atgaagataa aattggccat
     1021 gatgaaaaag aatcttccct tggaaaagaa ccgacctgac agtgtgattt cttctaagat
     1081 gtttctatct atacaccgcc tcaccctgga aagaccagca ctgcgatatc ctgaacgttt
     1141 gaagaaatta cataacctga agacagaagg ttacaggaaa cagcagcagc ggcagcagca
     1201 gcagcagcag caacagaaga aggtgaaaac acctattaag aaacaggagg ctaaaaagaa
     1261 agccaagagt gatccaggga tccagagcac ttcacataaa catccagtta ccaccgttca
     1321 tgaccgtctc tatggttaca gaactctgcc aggtcagaac agtgacatga agcagcagca
     1381 gcagatggaa aaaggaacca cttcgaaaca ggattccacg gagagaccaa agatgaacta
     1441 ctatgaccat gcggatttcc accacagtgt aaaaagtcct gaattgtatg aaacagaacc
     1501 cactaacaag gacattagtg ctccagtgga cgctgtgcca gaagcccagg ctgccaggca
     1561 aaagaagatc tcctttaact tttcagaaat tatggctagc acaggctgga actctgagct
     1621 caaactactt aggattcttc aggacactga tgatgaggat gaggaggacc agtcctctgg
     1681 ggcagagtga gaagcctctg gaggaataga ctgaaggcat cccctggggc agccgtgttc
     1741 caaagcggga tggctggtat cctgagggca gcaacgtttc acataagggc aagaggagag
     1801 gggcttctgc tctctggagc ctttaccagg gcctgagctc tgagcttagg gattccattt
     1861 tctttgttca cctctacttg cctctaaaat aaatgtagga gaaaaatccc cagccttttt
     1921 aaatttagat tatttccttt ccattagggt cagaataatt ttggtgatta aacacaactg
     1981 cttttcaatc aaaa
//
