LOCUS       NM_173503               1546 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript
            variant 2, mRNA.
ACCESSION   NM_173503
VERSION     NM_173503.4
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 1546)
  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 1546)
  AUTHORS   Lilue,J., Doran,A.G., Fiddes,I.T., Abrudan,M., Armstrong,J.,
            Bennett,R., Chow,W., Collins,J., Collins,S., Czechanski,A.,
            Danecek,P., Diekhans,M., Dolle,D.D., Dunn,M., Durbin,R., Earl,D.,
            Ferguson-Smith,A., Flicek,P., Flint,J., Frankish,A., Fu,B.,
            Gerstein,M., Gilbert,J., Goodstadt,L., Harrow,J., Howe,K.,
            Ibarra-Soria,X., Kolmogorov,M., Lelliott,C.J., Logan,D.W.,
            Loveland,J., Mathews,C.E., Mott,R., Muir,P., Nachtweide,S.,
            Navarro,F.C.P., Odom,D.T., Park,N., Pelan,S., Pham,S.K., Quail,M.,
            Reinholdt,L., Romoth,L., Shirley,L., Sisu,C., Sjoberg-Herrera,M.,
            Stanke,M., Steward,C., Thomas,M., Threadgold,G., Thybert,D.,
            Torrance,J., Wong,K., Wood,J., Yalcin,B., Yang,F., Adams,D.J.,
            Paten,B. and Keane,T.M.
  TITLE     Sixteen diverse laboratory mouse reference genomes define
            strain-specific haplotypes and novel functional loci
  JOURNAL   Nat Genet 50 (11), 1574-1583 (2018)
   PUBMED   30275530
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK098684.1, AI218847.1 and AC008026.7.
            
            On Jun 2, 2019 this sequence version replaced NM_173503.3.
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            lacks three exons in the 5' coding region, compared to variant 1.
            These differences cause translation initiation at a downstream AUG
            and result in an isoform (b) with a shorter N-terminus compared to
            isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK098684.1, BC101752.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305286.8/ ENSP00000302649.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1542              AK098684.1         2-1543
            1543-1545           AI218847.1         1-3                 c
            1546-1546           AC008026.7         137233-137233       c
FEATURES             Location/Qualifiers
     source          1..1546
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.2"
     gene            1..1546
                     /gene="EFCAB3"
                     /note="EF-hand calcium binding domain 3"
                     /db_xref="GeneID:146779"
                     /db_xref="HGNC:HGNC:26379"
                     /db_xref="MIM:619567"
     exon            1..61
                     /gene="EFCAB3"
                     /inference="alignment:Splign:2.1.0"
     exon            62..152
                     /gene="EFCAB3"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..1395
                     /gene="EFCAB3"
                     /note="isoform b is encoded by transcript variant 2;
                     EF-hand calcium-binding domain-containing protein 3"
                     /codon_start=1
                     /product="EF-hand calcium-binding domain-containing
                     protein 3 isoform b"
                     /protein_id="NP_775774.1"
                     /db_xref="CCDS:CCDS11632.1"
                     /db_xref="GeneID:146779"
                     /db_xref="HGNC:HGNC:26379"
                     /db_xref="MIM:619567"
                     /translation="MAVSEIKPKLKLNPLTKVPISHNKRDRDLPGSLQCQLQHKEKKL
                     SASQMAAFQDAYNFFYKDKTGCIDFHGLMCTVAKLGMNLTKHDVYNELKCADIDRDGK
                     VNFSDFIKVLTDKNLFLKAVVPEKETCLDLAGNPGILLFEILSRLLETSALPRKSIIE
                     IVSYFQRKFQHTGPGMLWSPYTMGYGKRTLKPDICTPPSSSMAAFANAARIAIMKEKD
                     LFKFLEELKRCNSGSDSPYSKIPIFPLFPNVDGVVMGKPFKDMQKLEMLRIKEPLHFF
                     EDYFFHKRDWKTQAANIKSMDPASGYSNNIFTIDQMLKKKQTCTVADATAIKQHVKRA
                     TDTYNLGIALEHRKEMLNLWQKIRGDLIGMDSRNESFYDTFSTYTWSWNVCQELLSPK
                     DLRLYDAYVNRNSSHNSRSSSSSDTSECYTDSGRKRKRKGLKGFQQ"
     exon            153..229
                     /gene="EFCAB3"
                     /inference="alignment:Splign:2.1.0"
     exon            230..373
                     /gene="EFCAB3"
                     /inference="alignment:Splign:2.1.0"
     exon            374..445
                     /gene="EFCAB3"
                     /inference="alignment:Splign:2.1.0"
     exon            446..566
                     /gene="EFCAB3"
                     /inference="alignment:Splign:2.1.0"
     exon            567..760
                     /gene="EFCAB3"
                     /inference="alignment:Splign:2.1.0"
     exon            761..945
                     /gene="EFCAB3"
                     /inference="alignment:Splign:2.1.0"
     exon            946..1068
                     /gene="EFCAB3"
                     /inference="alignment:Splign:2.1.0"
     exon            1069..1546
                     /gene="EFCAB3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1523..1528
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFCAB3"
                     /note="hexamer: AGTAAA"
     polyA_site      1546
                     /gene="EFCAB3"
                     /note="major polyA site"
ORIGIN      
        1 tttattggat tcctgatctg attgaagccc agaagtggta ggtagcacgg cttaaaagta
       61 gacagagtca ctggccacat ggcagtttca gaaattaaac caaaacttaa gctgaatcct
      121 ctaacaaaag tacccatctc ccacaataaa agggatagag acttaccagg atctcttcaa
      181 tgccaattac aacacaaaga aaagaagcta agtgcttcac aaatggcagc tttccaagat
      241 gcctacaact tcttctacaa ggacaaaact ggctgtattg atttccatgg actgatgtgc
      301 actgtagcta agctgggaat gaatctgacc aagcatgatg tctataatga attgaaatgt
      361 gctgatattg atcgagatgg gaaggtgaac ttctcagact ttatcaaggt tctaacagat
      421 aagaatctct tcctcaaggc agtggttcca gaaaaggaga cctgtttaga tttggctggc
      481 aacccaggaa tcctattgtt tgaaatccta tcaaggcttc tagagacttc agccctaccc
      541 agaaagtcta taatagaaat agtaagctat ttccaaagaa aattccagca tactggccca
      601 ggaatgttgt ggagtcccta cactatgggc tatggaaaaa ggacacttaa gccagacata
      661 tgcacacctc caagctcaag catggctgcc tttgctaatg ctgcccggat tgcaataatg
      721 aaagaaaagg atttatttaa atttcttgaa gagctcaaga gatgcaattc cggttcagat
      781 agcccatatt caaaaatacc catctttcca ttgttcccta atgtggatgg ggtggtgatg
      841 ggaaagccat tcaaagacat gcagaaatta gagatgctaa gaataaagga gcctttgcat
      901 ttctttgagg attatttttt ccataaaaga gactggaaaa cacaggcagc aaatataaag
      961 tctatggacc ctgcctcagg ttattcaaat aacatcttca ccattgatca aatgctcaag
     1021 aaaaagcaga cttgtacagt ggccgatgca actgctatta aacaacatgt gaagagagct
     1081 actgatacct ataatttagg aattgccctt gaacaccgaa aagagatgct aaacctctgg
     1141 cagaagatcc gaggggattt gattgggatg gactctagaa atgagtcctt ttatgacacc
     1201 ttttctactt atacatggtc ctggaatgtt tgccaagaat tactttctcc taaggactta
     1261 aggttatatg atgcctatgt gaatagaaat tcctcccata actccagatc ctcttcctca
     1321 tcagatacca gtgaatgtta cacagactca ggaagaaaaa gaaaacggaa aggtttaaag
     1381 ggatttcaac aatgaaattt ctacattttc taaacagctc atcacaaact actttttcat
     1441 agttatcaaa attattgttt cttgcttttg tctaagtaca ttcttagaag ctggaaattt
     1501 tgacatcttt tggattctga ccagtaaaaa agtttaagtc ataaaa
//
