LOCUS       NM_138803               3130 bp    mRNA    linear   PRI 27-MAY-2024
DEFINITION  Homo sapiens coiled-coil domain containing 148 (CCDC148),
            transcript variant 1, mRNA.
ACCESSION   NM_138803
VERSION     NM_138803.4
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 3130)
  AUTHORS   Liang,Y., Gersch,C.L., Lehman,J., Henry,N.L., Smith,K.L., Rae,J.M.,
            Stearns,V. and Hertz,D.L.
  TITLE     Attempted replication of pharmacogenetic association of variants in
            PPP1R14C and CCDC148 with aromatase inhibitor-induced
            musculoskeletal symptoms
  JOURNAL   Pharmacogenet Genomics 34 (4), 126-129 (2024)
   PUBMED   38359166
  REMARK    GeneRIF: Attempted replication of pharmacogenetic association of
            variants in PPP1R14C and CCDC148 with aromatase inhibitor-induced
            musculoskeletal symptoms.
REFERENCE   2  (bases 1 to 3130)
  AUTHORS   Leikauf,G.D., Concel,V.J., Liu,P., Bein,K., Berndt,A., Ganguly,K.,
            Jang,A.S., Brant,K.A., Dietsch,M., Pope-Varsalona,H., Dopico,R.A.
            Jr., Di,Y.P., Li,Q., Vuga,L.J., Medvedovic,M., Kaminski,N., You,M.
            and Prows,D.R.
  TITLE     Haplotype association mapping of acute lung injury in mice
            implicates activin a receptor, type 1
  JOURNAL   Am J Respir Crit Care Med 183 (11), 1499-1509 (2011)
   PUBMED   21297076
  REMARK    GeneRIF: CCCDC148 is associated with acute lung injury in mice
REFERENCE   3  (bases 1 to 3130)
  AUTHORS   Maestrini,E., Pagnamenta,A.T., Lamb,J.A., Bacchelli,E., Sykes,N.H.,
            Sousa,I., Toma,C., Barnby,G., Butler,H., Winchester,L.,
            Scerri,T.S., Minopoli,F., Reichert,J., Cai,G., Buxbaum,J.D.,
            Korvatska,O., Schellenberg,G.D., Dawson,G., de Bildt,A.,
            Minderaa,R.B., Mulder,E.J., Morris,A.P., Bailey,A.J. and
            Monaco,A.P.
  CONSRTM   IMGSAC
  TITLE     High-density SNP association study and copy number variation
            analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4
            gene region in autism susceptibility
  JOURNAL   Mol Psychiatry 15 (9), 954-968 (2010)
   PUBMED   19401682
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 3130)
  AUTHORS   Venkatesan,K., Rual,J.F., Vazquez,A., Stelzl,U., Lemmens,I.,
            Hirozane-Kishikawa,T., Hao,T., Zenkner,M., Xin,X., Goh,K.I.,
            Yildirim,M.A., Simonis,N., Heinzmann,K., Gebreab,F., Sahalie,J.M.,
            Cevik,S., Simon,C., de Smet,A.S., Dann,E., Smolyar,A.,
            Vinayagam,A., Yu,H., Szeto,D., Borick,H., Dricot,A., Klitgord,N.,
            Murray,R.R., Lin,C., Lalowski,M., Timm,J., Rau,K., Boone,C.,
            Braun,P., Cusick,M.E., Roth,F.P., Hill,D.E., Tavernier,J.,
            Wanker,E.E., Barabasi,A.L. and Vidal,M.
  TITLE     An empirical framework for binary interactome mapping
  JOURNAL   Nat Methods 6 (1), 83-90 (2009)
   PUBMED   19060904
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA230063.1, AF458588.1, AC019044.6, AK123220.1 and AC069146.6.
            
            On May 17, 2019 this sequence version replaced NM_138803.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF458588.1, BC107597.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968189 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000283233.10/ ENSP00000283233.5
            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
            1-543               DA230063.1         1-543
            544-1299            AF458588.1         493-1248
            1300-1424           AC019044.6         44528-44652         c
            1425-2237           AF458588.1         1374-2186
            2238-2846           AK123220.1         1467-2075
            2847-3130           AC069146.6         26938-27221         c
FEATURES             Location/Qualifiers
     source          1..3130
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.1"
     gene            1..3130
                     /gene="CCDC148"
                     /note="coiled-coil domain containing 148"
                     /db_xref="GeneID:130940"
                     /db_xref="HGNC:HGNC:25191"
     exon            1..339
                     /gene="CCDC148"
                     /inference="alignment:Splign:2.1.0"
     CDS             315..2090
                     /gene="CCDC148"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coiled-coil domain-containing protein 148"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 148
                     isoform 1"
                     /protein_id="NP_620158.3"
                     /db_xref="CCDS:CCDS33304.1"
                     /db_xref="GeneID:130940"
                     /db_xref="HGNC:HGNC:25191"
                     /translation="MCAASASPDNLVFHMKNEMRNIKYKPVDYQQLRALTEAKKLASA
                     SAKLKIRKAMLTSKLSKEQTLIKQHKQVWWQEYQRLNEVRCKMESEIKSLLNEENIGN
                     ECLCDLTNFEQELSEQQCTYLKNVINPIQQLRADLKYRQHHTLQHSHPHIEFNSMKVL
                     EEVDFVKKQLKTVFERLRLEQQRIENDLSDWSIKILDHSLEEKTNPLSELPIELESLE
                     CPYPDLKSSILSEFYKFTQKYQKKLQDFNLQLEDIYRNCQLSEEDHWIYQAILDQYPG
                     DLFGRRTLYLDMLQRYFPHKSRHDLVEHEKYCDQYRFAIEQQNILISNWNKNKKDFIQ
                     KAVLTLTEACATHEMESMLAKDKKKQQELCADLKAKVRQWRAHQEEVARLEMEISARR
                     REKEEEKEKLWKKKELLQRAEKKKKIKKYWAKKKQKWQEMEMRDLQRLEELKKLIAEQ
                     SLKDRERVKYRQELLERRLMEKKEVALQEAHEDKERARRLEALRKQVAVVAQFDPVRM
                     MSDTMASKARMGIEIEEEFILQKPLFTLNTYNEQQIISDPRLRFELALREAGLHRTLY
                     AKEILPKISPQKPPRKDMESTVFKI"
     exon            340..461
                     /gene="CCDC148"
                     /inference="alignment:Splign:2.1.0"
     exon            462..565
                     /gene="CCDC148"
                     /inference="alignment:Splign:2.1.0"
     exon            566..648
                     /gene="CCDC148"
                     /inference="alignment:Splign:2.1.0"
     exon            649..800
                     /gene="CCDC148"
                     /inference="alignment:Splign:2.1.0"
     exon            801..896
                     /gene="CCDC148"
                     /inference="alignment:Splign:2.1.0"
     exon            897..1078
                     /gene="CCDC148"
                     /inference="alignment:Splign:2.1.0"
     exon            1079..1217
                     /gene="CCDC148"
                     /inference="alignment:Splign:2.1.0"
     exon            1218..1424
                     /gene="CCDC148"
                     /inference="alignment:Splign:2.1.0"
     exon            1425..1565
                     /gene="CCDC148"
                     /inference="alignment:Splign:2.1.0"
     exon            1566..1684
                     /gene="CCDC148"
                     /inference="alignment:Splign:2.1.0"
     exon            1685..1802
                     /gene="CCDC148"
                     /inference="alignment:Splign:2.1.0"
     exon            1803..1943
                     /gene="CCDC148"
                     /inference="alignment:Splign:2.1.0"
     exon            1944..3130
                     /gene="CCDC148"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2209..2214
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC148"
                     /note="hexamer: ATTAAA"
     polyA_site      2229
                     /gene="CCDC148"
                     /note="major polyA site"
     regulatory      2822..2827
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC148"
                     /note="hexamer: AATAAA"
     polyA_site      2840
                     /gene="CCDC148"
     regulatory      3112..3117
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC148"
                     /note="hexamer: AATAAA"
     polyA_site      3130
                     /gene="CCDC148"
ORIGIN      
        1 atagagaccg atgctgttca gcgcgagagg gcctggagag ggtgggtgtg agagagaagg
       61 tgtctcaggt ctcgggcgcg ggagggggtg gcggagagga cagggagatt ccccagcgct
      121 ggctctgaaa tctggggcag gctttccttg ccttactgcc aatcccaact gtgcctggta
      181 gggtttgtcc ctggcgtcaa aggtaggaac agctgagccc ttagatgtac ccctgacggc
      241 gagagcccag gagtgggcgt ttcacttttc ctgcgtttgg ggagtccctg aggctatgcc
      301 ctttgacctt tgacatgtgt gcagcttctg cttctccaga taatctggta ttccatatga
      361 aaaatgagat gagaaacatc aagtacaaac cagtagacta tcaacaattg cgtgcattaa
      421 ctgaagcaaa gaaattggct tctgcctctg caaagctaaa gatcagaaaa gcaatgttga
      481 cttcaaagtt atccaaagaa caaacactaa taaaacaaca caagcaagtg tggtggcagg
      541 aataccagag gctgaatgaa gtcagatgta aaatggaatc tgaaataaaa tcccttctca
      601 atgaagagaa cattggaaat gaatgtcttt gtgaccttac aaattttgag caagagctat
      661 cagaacaaca gtgcacatat cttaaaaatg taataaatcc tattcagcag ctgagagcag
      721 atctaaaata cagacagcat cacactttgc agcattcaca cccacatatt gagtttaact
      781 ccatgaaagt attggaagag gttgactttg tgaagaaaca attgaaaact gtctttgaaa
      841 gacttaggct ggagcaacag agaatagaaa atgatctttc agactggagt ataaagattc
      901 tagatcattc tttggaagaa aagactaacc cgcttagtga actgcccatt gaattagaaa
      961 gtttggaatg cccataccct gatttgaaat cttcaattct cagtgagttc tataagttta
     1021 cacagaaata tcagaagaag cttcaagact ttaatctgca gttggaagac atatacagaa
     1081 actgtcaact aagtgaagaa gaccactgga tttaccaggc tattttggat cagtaccctg
     1141 gagatctctt tggaagaagg actctgtatc tggacatgtt acaaagatat tttcctcaca
     1201 aatctaggca tgatttggtt gaacacgaga aatattgtga ccaatatcgc tttgctatag
     1261 agcagcaaaa tatcctgata tcaaattgga ataaaaataa gaaagacttt atacagaagg
     1321 ctgtgctgac actcactgag gcttgtgcaa cacatgaaat ggagagcatg ttggctaagg
     1381 acaagaaaaa gcaacaggaa ttgtgtgctg atctgaaagc caaggttcgt caatggcgag
     1441 cccaccaaga agaggtagca agactggaaa tggaaatttc tgccagaaga agagaaaagg
     1501 aagaggagaa agagaaactg tggaagaaga aggaattgtt gcaaagagca gagaagaaaa
     1561 aaaaaataaa aaaatactgg gccaagaaaa aacagaagtg gcaagaaatg gaaatgagag
     1621 atcttcagcg tctagaagaa ctgaagaaat taatcgctga acagtcacta aaagacagag
     1681 aaagggttaa atatagacaa gaattattgg aaaggcgttt gatggagaaa aaggaagtgg
     1741 cccttcaaga agctcatgaa gacaaagaga gagcacggcg gctagaagcc cttaggaaac
     1801 aggttgctgt tgttgctcaa tttgatcctg ttagaatgat gtcagataca atggcatcaa
     1861 aagctagaat gggcattgaa attgaagaag aatttattct tcaaaagcca ctcttcacat
     1921 tgaatacata caatgaacag cagataattt ctgaccctag acttcgcttc gagttagcac
     1981 ttcgagaagc tggacttcat agaacacttt atgctaaaga gatattacca aaaattagtc
     2041 ctcaaaaacc tccaagaaag gacatggagt ctactgtatt taaaatatag agctcatcct
     2101 caaattctat atgtaaagag catttttctt tgaaaacatg tatatggata ataataatta
     2161 ctactttcta aaatgtttga aatatcagac atagaaatca tagcatctat taaaacaact
     2221 ttgcctttct tttgtgattc ttagaatttt atgcactata tttcctgtat ctttaagtta
     2281 tatttaatag tactaaattc ccccaaatta tggaacttaa ttatggcaca tatagtactt
     2341 atactataat ttagtaaact acatgttgga ggttatgtta tcctataaaa agagctcaaa
     2401 ataactttgt gagaattata aattatgtag ctgctacctg ctaatgttca tttctgcttg
     2461 ttatttcaga atttgacttt ttaattatgg aagcttcatt atcattaata cttctattat
     2521 ttcttgatta ttataagagg agactcaacc tttctctaaa tttagaaacc aatttggtac
     2581 accatgttta ctgcaaacca atcatccaaa caatttcatt ttgcaaatta gcccttaaga
     2641 ataaattaga aattagaaat agcatttcaa gcatgggaat atctgttttg gtttggaaat
     2701 atatatattt gtgtgattgt ttagaagaaa tatttaaaat ttcataatat ttggaatgct
     2761 gtcaaaaatt ccaaattatc tattaaatat ttagatgatt ttatagaaaa ggagcattta
     2821 aaataaaact caaacataaa tatttgacta tttctaaaaa ataatttttc aagcagaata
     2881 acaagttagt gttgttgaaa gttgccattg ttacagttaa gattacccca ctcctttttc
     2941 tgtctattgc agctccctga catttcccac ctacctccca ggggttgcag cctctgtgca
     3001 attactggaa taatgtaaaa aaaaaaaagc ccaatccaac tagtggaatc tttgacttta
     3061 tgattgtccc caacatcatg gaaataaaaa atacaagtac agtcccgtta gaataaatct
     3121 tcacaaaaga
//
