LOCUS       NM_001377500            3019 bp    mRNA    linear   PRI 15-FEB-2024
DEFINITION  Homo sapiens EF-hand and coiled-coil domain containing 1 (EFCC1),
            transcript variant 1, mRNA.
ACCESSION   NM_001377500 XM_005247781
VERSION     NM_001377500.1
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 3019)
  AUTHORS   Muzny,D.M., Scherer,S.E., Kaul,R., Wang,J., Yu,J., Sudbrak,R.,
            Buhay,C.J., Chen,R., Cree,A., Ding,Y., Dugan-Rocha,S., Gill,R.,
            Gunaratne,P., Harris,R.A., Hawes,A.C., Hernandez,J., Hodgson,A.V.,
            Hume,J., Jackson,A., Khan,Z.M., Kovar-Smith,C., Lewis,L.R.,
            Lozado,R.J., Metzker,M.L., Milosavljevic,A., Miner,G.R.,
            Morgan,M.B., Nazareth,L.V., Scott,G., Sodergren,E., Song,X.Z.,
            Steffen,D., Wei,S., Wheeler,D.A., Wright,M.W., Worley,K.C.,
            Yuan,Y., Zhang,Z., Adams,C.Q., Ansari-Lari,M.A., Ayele,M.,
            Brown,M.J., Chen,G., Chen,Z., Clendenning,J.,
            Clerc-Blankenburg,K.P., Chen,R., Chen,Z., Davis,C., Delgado,O.,
            Dinh,H.H., Dong,W., Draper,H., Ernst,S., Fu,G.,
            Gonzalez-Garay,M.L., Garcia,D.K., Gillett,W., Gu,J., Hao,B.,
            Haugen,E., Havlak,P., He,X., Hennig,S., Hu,S., Huang,W.,
            Jackson,L.R., Jacob,L.S., Kelly,S.H., Kube,M., Levy,R., Li,Z.,
            Liu,B., Liu,J., Liu,W., Lu,J., Maheshwari,M., Nguyen,B.V.,
            Okwuonu,G.O., Palmeiri,A., Pasternak,S., Perez,L.M., Phelps,K.A.,
            Plopper,F.J., Qiang,B., Raymond,C., Rodriguez,R.,
            Saenphimmachak,C., Santibanez,J., Shen,H., Shen,Y., Subramanian,S.,
            Tabor,P.E., Verduzco,D., Waldron,L., Wang,J., Wang,J., Wang,Q.,
            Williams,G.A., Wong,G.K., Yao,Z., Zhang,J., Zhang,X., Zhao,G.,
            Zhou,J., Zhou,Y., Nelson,D., Lehrach,H., Reinhardt,R., Naylor,S.L.,
            Yang,H., Olson,M., Weinstock,G. and Gibbs,R.A.
  TITLE     The DNA sequence, annotation and analysis of human chromosome 3
  JOURNAL   Nature 440 (7088), 1194-1198 (2006)
   PUBMED   16641997
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC112484.8 and AC108673.11.
            
            On Jan 16, 2020 this sequence version replaced XM_005247781.4.
            
            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 :: SRR14038194.3255810.1,
                                           DRR138524.1287139.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000683648.1/ ENSP00000507795.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1021              AC112484.8         146411-147431
            1022-1305           AC112484.8         148901-149184
            1306-1463           AC112484.8         175810-175967
            1464-1611           AC112484.8         177926-178073
            1612-1777           AC112484.8         179271-179436
            1778-1918           AC112484.8         182084-182224
            1919-1988           AC112484.8         183938-184007
            1989-2640           AC112484.8         184819-185470
            2641-3019           AC108673.11        2104-2482
FEATURES             Location/Qualifiers
     source          1..3019
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.3"
     gene            1..3019
                     /gene="EFCC1"
                     /gene_synonym="C3orf73; CCDC48"
                     /note="EF-hand and coiled-coil domain containing 1"
                     /db_xref="GeneID:79825"
                     /db_xref="HGNC:HGNC:25692"
     exon            1..1021
                     /gene="EFCC1"
                     /gene_synonym="C3orf73; CCDC48"
                     /inference="alignment:Splign:2.1.0"
     CDS             326..2125
                     /gene="EFCC1"
                     /gene_synonym="C3orf73; CCDC48"
                     /note="isoform 1 is encoded by transcript variant 1;
                     coiled-coil domain-containing protein 48; EF-hand
                     domain-containing protein ENSP00000381169; coiled-coil
                     domain containing 48; EF-hand and coiled-coil
                     domain-containing protein 1"
                     /codon_start=1
                     /product="EF-hand and coiled-coil domain-containing
                     protein 1 isoform 1"
                     /protein_id="NP_001364429.1"
                     /db_xref="CCDS:CCDS93371.1"
                     /db_xref="GeneID:79825"
                     /db_xref="HGNC:HGNC:25692"
                     /translation="MEPVSTGAEAGMEGAGGDPYRRPARRTQWLLSALAHHYGLDRGV
                     ENEIVVLATGLDQYLQEVFHHLDCRGAGRLPRADFRALCAVLGLRAEGATTAGQAAGD
                     GNSRDVTPGDAAAELATDGDSDTDEEARLALRAEPPELTFRQFHARLCGYFGTRAGPR
                     LPRGALSEHIETQIRLRRPRRRRRPPCAPGPDSGPDCERVARLEEENSSLRELVEDLR
                     AALQSSDARCLALQVGLWKSQASTHEMGHGGPEAAVRELRQAQGALAAAEARAGRLRR
                     GQAEVRRRAEEARQVVLRSLHRVRELEALAQQVPGLQRWVRRLEAELQRYRSEDSQLP
                     TPQLANPEPGDKSNEPEDAGTRDPDPTPEGAWQSDSSSGSRALDEAVDEQLFRSVEGQ
                     AASDEEEVEEERWQEEKKTPAAEAKTLLARLSSCRGRCDDQTAEKLMTYFGHFGGANH
                     AHTLGELEACIAMLVEQLRTQGCGGRTLGTSEEEAELQQKVEENEHLRLELQMVETER
                     VRLSLLEEKLVDVLQLLQRLRDLNISKRALGKILLSTLDAFRDPTHEGRPSPAAILDA
                     LHQALAACQLLRRQPSAPASAAAALTNPLLVSC"
     exon            1022..1305
                     /gene="EFCC1"
                     /gene_synonym="C3orf73; CCDC48"
                     /inference="alignment:Splign:2.1.0"
     exon            1306..1463
                     /gene="EFCC1"
                     /gene_synonym="C3orf73; CCDC48"
                     /inference="alignment:Splign:2.1.0"
     exon            1464..1611
                     /gene="EFCC1"
                     /gene_synonym="C3orf73; CCDC48"
                     /inference="alignment:Splign:2.1.0"
     exon            1612..1777
                     /gene="EFCC1"
                     /gene_synonym="C3orf73; CCDC48"
                     /inference="alignment:Splign:2.1.0"
     exon            1778..1918
                     /gene="EFCC1"
                     /gene_synonym="C3orf73; CCDC48"
                     /inference="alignment:Splign:2.1.0"
     exon            1919..1988
                     /gene="EFCC1"
                     /gene_synonym="C3orf73; CCDC48"
                     /inference="alignment:Splign:2.1.0"
     exon            1989..3019
                     /gene="EFCC1"
                     /gene_synonym="C3orf73; CCDC48"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2998..3003
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFCC1"
                     /gene_synonym="C3orf73; CCDC48"
                     /note="hexamer: AATAAA"
     polyA_site      3019
                     /gene="EFCC1"
                     /gene_synonym="C3orf73; CCDC48"
                     /note="major polyA site"
ORIGIN      
        1 agacgccagg aacgccccgt gagtgaggag aggagagcgt gggagtcacg cggagaagcc
       61 agacccagac gccgaccggg cactggtggc gctgccgggg tcccgggggt tcctggaccc
      121 cctaccccag gcccctccaa agcaactggg gtaaaccaga cgcactgtga ggccagcgca
      181 gctgctggac acggtccccg gcgccgctcc aaccagaccg cgaccgctaa gcccctcctt
      241 tcgagaaact ctggggccgc ccctggaagt ggcggggcga agggaccgga ggagggaccg
      301 gaggagcgag gcgcgcggcg cagcgatgga gccggtcagc acgggcgcgg aggccggcat
      361 ggagggcgcg ggaggtgacc cgtaccggcg acctgcgcgg cgcacgcagt ggctgctgag
      421 cgccctggcg caccactacg ggctggaccg cggcgtggag aacgagatcg tggtgctggc
      481 caccggcctg gaccagtacc tgcaggaggt cttccaccac ctggactgcc gcggcgccgg
      541 ccgtctgccc cgcgccgact tccgagcgct ctgcgctgtg ctggggctgc gcgcggaggg
      601 ggccaccacg gccgggcagg cagcaggtga cgggaactcc agagatgtga cccccgggga
      661 tgcggccgct gagttggcca cggacgggga ctcagatacc gatgaagagg cgcgcctggc
      721 gctgcgcgcc gagccgccgg agctcacctt ccgccagttc cacgcgcgcc tctgtggcta
      781 cttcggcacc cgtgcggggc cccggctgcc ccgcggcgct ctcagcgagc acatcgagac
      841 gcagatccgc ctgcgccgtc cgcgccgccg ccgccgcccg ccctgcgcgc ctggccccga
      901 cagcggtcct gactgtgagc gcgttgcgcg gctggaggag gagaatagca gcttgcgcga
      961 gttggtggag gacctgcgcg ccgcgctgca gagcagtgat gcgcgctgcc tagcactgca
     1021 ggtcggactc tggaagagcc aggcgagcac ccacgagatg gggcacggcg ggccggaggc
     1081 tgcggtgcgg gagctgcgtc aggcgcaggg cgccctggct gcggcggagg cccgcgctgg
     1141 gcggctgcgc cgtggccagg ccgaggtgcg gcggcgcgcg gaggaggccc ggcaggtggt
     1201 gctgcgcagc ctgcaccgcg tgcgagagct ggaggcgctg gcgcaacagg tgcccggctt
     1261 gcagcgctgg gtgcggcggc tggaggcgga gctgcaacgc tacaggtcag aggattccca
     1321 gctcccaacc ccgcagctag ccaacccaga gccaggagac aagagtaatg aacctgaaga
     1381 tgctgggacc agagacccag accccactcc agagggagcc tggcagtcag acagcagctc
     1441 tggaagcaga gccctggatg aagcagtgga cgagcagctg ttccgctccg tggagggcca
     1501 ggccgcctct gacgaggagg aggtggagga ggagaggtgg caggaggaga agaagacgcc
     1561 ggcagccgag gccaagacac tgctggcccg gctctccagc tgcagaggca ggtgtgatga
     1621 ccagacggcg gagaagctca tgacttactt tggtcacttc ggcggtgcca accatgccca
     1681 taccctgggg gagctggagg cctgcattgc catgctggtg gagcagctga ggactcaggg
     1741 ctgcggtggg aggaccctgg ggacctctga ggaggaggca gagttgcagc agaaggtgga
     1801 agagaatgag cacctgaggc tggagctgca gatggtagag accgagaggg tgcggctgtc
     1861 cctgctggag gagaagctgg tggacgtgct gcagctcctg cagaggctcc gggacctgaa
     1921 catatcgaaa agagccctgg ggaagatttt gctgagcacg ctggacgctt tcagggaccc
     1981 cacccacgag ggaaggccca gccctgcagc catcctggat gccctgcacc aagccttggc
     2041 tgcctgccag ctgttgcgga gacagccctc ggcaccagcc tctgcagcag ctgcgctcac
     2101 caaccccctc ctcgtctcct gctgaggtta ctggcccacc ctgtgggcac cctgctcagc
     2161 ctgactgcct ttggaccagc ctccatgatc agcccaacca ctgacagctg gtctgaccac
     2221 cgtcacatca tcagaacttg agtctctgct ggctccttcc aaggttaagc ccgagcccag
     2281 agcctcccat tgcagcacct ggcagccacc ccttcctcgg gctcctccac attacctcgc
     2341 agcccctgca ttcctgccac cagagtccac attaaagccc tgcagttgct ggatcagcct
     2401 gcacctgatg ctgtatcttt cccctgccct cagggcagag atgcccactt tctgactgag
     2461 tctgacccca aatctcttcc ccagagtttc aggatctcct cccctcccag cactgtctcc
     2521 ttcctcccac tggcatgcct gctgcaacgg agactgggcc caacctttgg gatacctggt
     2581 ctgtaggaaa gcactccaca ccccaggaaa tgttgatgac taggaaaggc tgagggaatt
     2641 ccaaggaagg aacaatcact gtaggctccc tggtagaagc tggccttgaa ccagctctag
     2701 aggacaggta ggatttagac aggtaaagaa aggagggaag ggcatagaat ctaaggtaat
     2761 ggcaagagca aaggtgtgga accagagggg ggccccagga atgcagtgct tggagcccct
     2821 gctcctgaac acgcattaac tcctgaactg cgagcccctc ctcctgaact gcgtcatggg
     2881 gttgcaggaa ggagtaggcc aagataccca gtctcaccta acttagactg tcattagaga
     2941 gaaagatcca ttgccaaaca gtgccatggg ggtgaaacca gtgctaaatg gaggtaaaat
     3001 aaagtttgta agagcccaa
//
