LOCUS       NM_198529               5103 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript
            variant 1, mRNA.
ACCESSION   NM_198529 XM_351115
VERSION     NM_198529.4
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 5103)
  AUTHORS   Cornelis,M.C., Byrne,E.M., Esko,T., Nalls,M.A., Ganna,A.,
            Paynter,N., Monda,K.L., Amin,N., Fischer,K., Renstrom,F.,
            Ngwa,J.S., Huikari,V., Cavadino,A., Nolte,I.M., Teumer,A., Yu,K.,
            Marques-Vidal,P., Rawal,R., Manichaikul,A., Wojczynski,M.K.,
            Vink,J.M., Zhao,J.H., Burlutsky,G., Lahti,J., Mikkila,V.,
            Lemaitre,R.N., Eriksson,J., Musani,S.K., Tanaka,T., Geller,F.,
            Luan,J., Hui,J., Magi,R., Dimitriou,M., Garcia,M.E., Ho,W.K.,
            Wright,M.J., Rose,L.M., Magnusson,P.K., Pedersen,N.L., Couper,D.,
            Oostra,B.A., Hofman,A., Ikram,M.A., Tiemeier,H.W.,
            Uitterlinden,A.G., van Rooij,F.J., Barroso,I., Johansson,I.,
            Xue,L., Kaakinen,M., Milani,L., Power,C., Snieder,H., Stolk,R.P.,
            Baumeister,S.E., Biffar,R., Gu,F., Bastardot,F., Kutalik,Z.,
            Jacobs,D.R. Jr., Forouhi,N.G., Mihailov,E., Lind,L., Lindgren,C.,
            Michaelsson,K., Morris,A., Jensen,M., Khaw,K.T., Luben,R.N.,
            Wang,J.J., Mannisto,S., Perala,M.M., Kahonen,M., Lehtimaki,T.,
            Viikari,J., Mozaffarian,D., Mukamal,K., Psaty,B.M., Doring,A.,
            Heath,A.C., Montgomery,G.W., Dahmen,N., Carithers,T., Tucker,K.L.,
            Ferrucci,L., Boyd,H.A., Melbye,M., Treur,J.L., Mellstrom,D.,
            Hottenga,J.J., Prokopenko,I., Tonjes,A., Deloukas,P., Kanoni,S.,
            Lorentzon,M., Houston,D.K., Liu,Y., Danesh,J., Rasheed,A.,
            Mason,M.A., Zonderman,A.B., Franke,L., Kristal,B.S.,
            Karjalainen,J., Reed,D.R., Westra,H.J., Evans,M.K., Saleheen,D.,
            Harris,T.B., Dedoussis,G., Curhan,G., Stumvoll,M., Beilby,J.,
            Pasquale,L.R., Feenstra,B., Bandinelli,S., Ordovas,J.M., Chan,A.T.,
            Peters,U., Ohlsson,C., Gieger,C., Martin,N.G., Waldenberger,M.,
            Siscovick,D.S., Raitakari,O., Eriksson,J.G., Mitchell,P.,
            Hunter,D.J., Kraft,P., Rimm,E.B., Boomsma,D.I., Borecki,I.B.,
            Loos,R.J., Wareham,N.J., Vollenweider,P., Caporaso,N., Grabe,H.J.,
            Neuhouser,M.L., Wolffenbuttel,B.H., Hu,F.B., Hypponen,E.,
            Jarvelin,M.R., Cupples,L.A., Franks,P.W., Ridker,P.M., van
            Duijn,C.M., Heiss,G., Metspalu,A., North,K.E., Ingelsson,E.,
            Nettleton,J.A., van Dam,R.M. and Chasman,D.I.
  CONSRTM   Coffee and Caffeine Genetics Consortium; International Parkinson's
            Disease Genomics Consortium (IPDGC); North American Brain
            Expression Consortium (NABEC); UK Brain Expression Consortium
            (UKBEC)
  TITLE     Genome-wide meta-analysis identifies six novel loci associated with
            habitual coffee consumption
  JOURNAL   Mol Psychiatry 20 (5), 647-656 (2015)
   PUBMED   25288136
  REMARK    Review article
REFERENCE   2  (bases 1 to 5103)
  AUTHORS   Igci,Y.Z., Arslan,A., Akarsu,E., Erkilic,S., Igci,M., Oztuzcu,S.,
            Cengiz,B., Gogebakan,B., Cakmak,E.A. and Demiryurek,A.T.
  TITLE     Differential expression of a set of genes in follicular and classic
            variants of papillary thyroid carcinoma
  JOURNAL   Endocr Pathol 22 (2), 86-96 (2011)
   PUBMED   21509594
  REMARK    GeneRIF: EFCAB5 gene expression is decreased in papillary thyroid
            carcinoma.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104982.7, AC104996.4 and AC104984.14.
            
            On Jun 2, 2019 this sequence version replaced NM_198529.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC137519.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394835.8/ ENSP00000378312.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-205               AC104982.7         109406-109610
            206-268             AC104982.7         110012-110074
            269-353             AC104982.7         111337-111421
            354-930             AC104982.7         136563-137139
            931-1087            AC104982.7         160937-161093
            1088-1111           AC104982.7         164084-164107
            1112-1136           AC104996.4         58272-58296
            1137-1207           AC104996.4         61842-61912
            1208-1363           AC104996.4         96166-96321
            1364-1463           AC104996.4         113054-113153
            1464-2357           AC104996.4         115191-116084
            2358-2435           AC104996.4         117824-117901
            2436-2528           AC104996.4         118000-118092
            2529-2743           AC104996.4         119612-119826
            2744-2900           AC104996.4         121481-121637
            2901-3190           AC104996.4         140151-140440
            3191-3360           AC104996.4         142008-142177
            3361-3589           AC104996.4         142689-142917
            3590-3742           AC104996.4         144827-144979
            3743-3846           AC104996.4         148999-149102
            3847-4100           AC104996.4         152357-152610
            4101-4387           AC104996.4         153807-154093
            4388-4484           AC104996.4         154776-154872
            4485-5103           AC104984.14        155123-155741       c
FEATURES             Location/Qualifiers
     source          1..5103
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..5103
                     /gene="EFCAB5"
                     /note="EF-hand calcium binding domain 5"
                     /db_xref="GeneID:374786"
                     /db_xref="HGNC:HGNC:24801"
     exon            1..205
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     CDS             164..4675
                     /gene="EFCAB5"
                     /note="isoform a is encoded by transcript variant 1;
                     EF-hand calcium-binding domain-containing protein 5"
                     /codon_start=1
                     /product="EF-hand calcium-binding domain-containing
                     protein 5 isoform a"
                     /protein_id="NP_940931.3"
                     /db_xref="CCDS:CCDS11254.2"
                     /db_xref="GeneID:374786"
                     /db_xref="HGNC:HGNC:24801"
                     /translation="MNESASQEELRPAQENRKEDKERKWNLTEVKELHETLQSVPDVP
                     VKEDTNSVVEKAMDEIKSQELNLEGQRKISPGSIKDSKTEASGNIAIRKSAKVIFALD
                     ETELKSKPEHTWKKNLFERMEARAQAMQQKIIDKENLKKELEKKAEKKLPRDNLAKEW
                     FNTDSMTLNNTAYLLDKLLPTLVPGVENMLTQVEKKKVLTEADTPSKFDPINYLGEYL
                     IRNNPNYIKDPGMSGYQRLMKEVTEDLKIYVPDTICNRVSKMKENVKQNRKQRESIDK
                     IIVKVANTRKQALQEQFDEWILDPKGMIPKSVIQNVLQEFFQNPDFKLGSHCKQLDIT
                     DSTEPRLNKMEFTEYISSHIKDLKSEMFEELLKHLCHSADEFREVIKADMRRQMFAEL
                     FLHCDHGKVGFLDRQRTLALLELFYDHSSQMLRSLLRNPRQWPFIEFEEINLTELWGD
                     MDNQKHIYEGFDKVLLEMNTLLSANHASKTQSKLLESPDQPKLNEQRTSTPSPNPPEQ
                     QRGVTAEQGPQRISIEEQQQGKKPTAEQELYIESVIEPGTHTESTLEQGSSRRLLTEQ
                     ETHRESTTEQGQHKGSIEGQGPRRVSVSEQGSSRESVAEQGSRRESIAEQDRHKGSVA
                     EQGSRRMSAAEQGSLRESVIEEPYQKSEQGPYGEIISEEQEDIGSTSQSRKDSILKST
                     KYGEPITSEYIEVPLQEKRSWEQTYEEEIFLSSELQEEVPTLSRKDHFPETTKKEVQK
                     DKPCEPKSQKIEGKSWSGEFFTCNWKMKYVTFEDEEQANLIYGNSRFTDLHSIIRNIQ
                     SCKEVKGRTAFNGVSFNLLQFVQLLETFVGEDAPLSVSETLTSFFKEGYVETEQEKMN
                     ALEQFSQNAFQVRQRLLLEAIFQKWDSDGSGFLDLKEVDELLYTYKEGMEKESMKKAK
                     LHIQFPKPHPGHEVRLSSKQFQNYIELVVSELRGNEDQVLESVVEFLMNALERSHIES
                     LRNSARRKWLHQIQCAAETSGVSLEPVYSETFKALMQDAEAHGNKKISAHISLLEENL
                     LLPEKGNVLLRNVACTLDDAQFVLNRVLYRDMKGISFTVVDEGKPIHVPQVQYHGNIF
                     FWNQSRNKHDYNGSFLALPLQDAYMRIFGVLAVDTLRDPHEINIFLPHEIRFYQGVAN
                     VFSTAYHYVHSREHILHIVITGIGWLYDVTSSITSITTYFVEPSPAQDSDYVLRNMMV
                     TGQLGLTEIHKNPPTIHRKSCIFRDFLFKCTDSSEVVLASACGETHIVVPLRERTGEA
                     LGVLDFNIGQNRMLLCQEYKDLQKMMKVVQVACYEILGEFSGEIKKKYILEIENVREV
                     QRAGILFFRIMLLELQESIQLLNSMEFVSLLLYDHTLVTEPNSPQDSKSMELEANVKL
                     VRDILKAVILFFHPELEFSSDFGSWDKCKFYVNKYLVNNICAFDPTAKHVEVNVQLID
                     EYIRDHSRTEVWKFGNVVIEHLYHWIHICSALMKITKQLNSGITPPLPSKTDNYMYAK
                     MPGEGLQEK"
     exon            206..268
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            269..353
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            354..930
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            931..1087
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            1088..1136
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            1137..1207
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            1208..1363
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            1364..1463
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            1464..2357
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            2358..2435
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            2436..2528
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            2529..2743
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            2744..2900
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            2901..3190
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            3191..3360
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            3361..3589
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            3590..3742
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            3743..3846
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            3847..4100
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            4101..4387
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            4388..4484
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     exon            4485..5103
                     /gene="EFCAB5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5081..5086
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFCAB5"
                     /note="hexamer: AATAAA"
     polyA_site      5103
                     /gene="EFCAB5"
                     /note="major polyA site"
ORIGIN      
        1 atcattcaat agaattgtgg ggtgaggtga gggcaggagt gagggagctt ttttaacttc
       61 tggagtactt tgtgatgttt attaatattt tctttctttt tgttattaat actggtctag
      121 taatattctt ctataccatt tggtgataac ttttggagtc caaatgaatg agtcagcatc
      181 tcaagaggaa ctcagacctg ctcaggaaaa cagaaaagaa gacaaagaga ggaaatggaa
      241 cttaactgaa gtgaaagagc ttcatgagac cttacagagt gtgccagacg ttcctgtaaa
      301 agaggacacc aacagtgtgg tggagaaagc aatggatgaa atcaaatccc aagaattaaa
      361 cctggagggg cagcgaaaaa tttcacctgg ttcaataaag gactctaaaa ctgaagcctc
      421 aggtaatatt gcaattagaa aatctgcaaa agtgattttt gctttagatg aaactgaact
      481 gaaatcaaag ccagagcaca catggaagaa aaaccttttt gaaagaatgg aggcaagagc
      541 ccaagcaatg cagcagaaaa taatagataa ggaaaatctg aagaaggaac tagaaaaaaa
      601 ggctgaaaaa aaactcccta gggataattt ggccaaagag tggtttaata ctgacagcat
      661 gacactgaat aatactgcat atttgcttga caaacttcta cccaccttag ttcctggagt
      721 agaaaacatg ttaactcaag tagaaaagaa gaaggttttg acagaagctg atactccaag
      781 caagtttgac ccaattaatt atttggggga atatttaata agaaacaatc ctaattatat
      841 caaagaccca ggaatgtctg gttaccagag gttgatgaaa gaagtcacag aagacctgaa
      901 gatatatgtt cctgacacta tctgcaacag agtatccaag atgaaggaga atgttaaaca
      961 gaatagaaaa caaagagaaa gcatagacaa aatcatagtc aaggtggcca acacacggaa
     1021 acaggctctg caggagcaat tcgatgaatg gattctagac cctaaaggaa tgattcctaa
     1081 gtcagtgatt cagaatgttc ttcaagaatt ctttcaaaat ccagatttca agcttggatc
     1141 acactgcaaa caactggata ttactgactc aacagaacca agattgaaca aaatggaatt
     1201 tacagaatac atctcttcac atattaaaga cttgaagagt gaaatgtttg aggaacttct
     1261 taagcacctt tgccactctg cagatgaatt tcgggaggtc ataaaagctg acatgcggag
     1321 gcagatgttc gctgaactct tcctacattg tgaccacggg aaggtagggt ttttggatcg
     1381 gcagaggaca ttggccctgc tggaattgtt ctatgaccat agttcacaaa tgcttaggag
     1441 tttacttcga aacccacgac aatggccatt cattgaattt gaagagataa acttgactga
     1501 gttgtgggga gacatggata atcagaaaca catttatgaa ggttttgaca aagtgctctt
     1561 ggagatgaat acattacttt ctgcaaatca tgctagcaaa acccaaagta aattattaga
     1621 aagtccagat caacctaaac ttaacgaaca gagaacatca acaccatcac caaacccgcc
     1681 agaacagcag agaggagtaa ctgcagaaca aggaccacaa agaatttcaa ttgaagaaca
     1741 acaacaaggc aaaaagccaa ctgcagagca agaactgtac atagaatcag taatagaacc
     1801 aggaacacac acagagtcaa ctctagaaca agggtcaagt agaaggttac tgacagaaca
     1861 agaaacacac agagagtcaa ctacagaaca aggacagcac aaagggtcaa tagaaggaca
     1921 aggaccacgc agagtgtcag tttcagaaca aggatcaagc agagagtcag ttgcagaaca
     1981 agggtcacgc agagagtcta ttgcagaaca agatcgacac aaagggtcag tagcagaaca
     2041 aggatcacgc agaatgtcag ctgcagaaca gggatcactc agagagtcag taatagaaga
     2101 accataccaa aaatcagaac aaggacctta tggagagata atttcagaag agcaagaaga
     2161 cataggctca acttcacaat caagaaaaga tagtatctta aaaagtacaa aatatgggga
     2221 acctataacc tctgagtaca ttgaagtccc tctacaggaa aagaggtctt gggaacaaac
     2281 atatgaagag gaaatattcc tgagttctga actgcaagag gaagttccaa ccttaagcag
     2341 aaaagatcac tttccagaaa ctacaaaaaa ggaagttcag aaagacaagc cctgtgaacc
     2401 caagtcccaa aaaatagaag gaaagtcatg gtcaggtgaa ttttttactt gtaactggaa
     2461 aatgaagtat gtcacatttg aagatgagga acaggcaaac ttaatctatg gtaactccag
     2521 gttcacagat ttacactcaa ttatcagaaa tattcagtct tgcaaggagg taaaaggcag
     2581 aactgccttc aatggagttt cattcaatct gctccagttt gtgcaactcc tggagacatt
     2641 tgttggtgaa gacgctccct tgagtgtcag cgagactctc acctcctttt ttaaggaggg
     2701 ctatgttgaa acagaacaag agaaaatgaa tgccttagaa cagtttagcc aaaatgcttt
     2761 ccaagtccga cagaggcttc tcctagaagc catctttcag aagtgggaca gtgatggctc
     2821 aggcttcctg gatctgaagg aagttgatga actcttgtac acatacaagg agggaatgga
     2881 aaaagaatct atgaagaaag ctaaactaca catccaattt ccaaagccac accctggtca
     2941 cgaagtgaga ttgtcttcaa aacaatttca gaattacata gaattggttg tgtctgaact
     3001 caggggcaat gaagaccaag ttctggaaag tgttgtggaa tttctgatga atgctttaga
     3061 gaggagccac attgagagtc tgaggaattc tgccaggcgg aaatggctgc accaaatcca
     3121 atgtgctgca gagacaagtg gggtgtccct agagccggtg tatagtgaga cctttaaggc
     3181 cctcatgcag gatgctgaag cccatggaaa taaaaagatc agtgctcaca tttccctctt
     3241 agaagaaaac ctactactgc ctgagaaagg gaatgttcta ttgaggaatg tggcttgtac
     3301 cttagatgat gctcaatttg tactgaacag agtgctctac agggacatga aaggaatcag
     3361 ctttacagta gtggatgaag ggaagccaat ccatgttccc caagttcagt accatgggaa
     3421 catcttcttc tggaaccagt cccgtaataa gcatgattat aatggttcat tcctggctct
     3481 gcctcttcaa gatgcatata tgaggatctt tggggtcttg gctgttgata cccttagaga
     3541 tccccacgaa ataaacatct ttctacctca tgagatcaga ttctatcagg gtgttgctaa
     3601 tgtctttagc actgcctatc actacgtcca cagccgggag cacattctgc atattgtgat
     3661 cactggcata ggctggcttt atgacgtcac atccagcatc acctccatca ctacgtactt
     3721 tgtagagcct agcccagccc aggattcaga ctatgtttta cgcaacatga tggttacagg
     3781 gcagctgggt ctaacagaaa tccacaaaaa tcctcctacc atccacagga agtcatgcat
     3841 cttcagagat ttcctcttta aatgtactga cagttcagaa gttgttctgg cttctgcctg
     3901 tggagaaacg catatagtag ttccacttcg tgagagaaca ggagaggctc tgggagtcct
     3961 cgattttaac atcggccaaa ataggatgtt gttgtgtcaa gaatataaag atctacagaa
     4021 aatgatgaaa gtggtccaag tggcctgcta tgaaatactt ggcgagttct ctggagagat
     4081 aaagaaaaaa tatatcttag agattgaaaa tgtcagggaa gtccagcggg caggaattct
     4141 cttcttccga atcatgctgc tcgagctaca ggaaagcatc caactactca attccatgga
     4201 atttgtgtca ctgttgctct atgaccatac tcttgtaaca gagccaaatt ctcctcaaga
     4261 cagcaaatct atggagttgg aagccaacgt gaaactagtg cgtgacatcc tgaaggcggt
     4321 tatcttgttc tttcatccag agttggaatt ttcaagtgac tttggaagtt gggataagtg
     4381 taaattttat gttaacaaat atttagtcaa caatatttgt gcctttgatc caactgccaa
     4441 gcatgtggaa gttaatgtac agcttattga tgaatatatc agagatcatt cccgaactga
     4501 agtatggaaa tttggtaatg ttgtcattga acatctatac cactggatac acatctgttc
     4561 agctctcatg aagataacca aacaactaaa tagtggtatt acacctccgt tgccctccaa
     4621 gactgacaat tatatgtatg caaaaatgcc aggggaaggt ttgcaagaga agtgataatg
     4681 gatgataatg gaattgatac tgtatttagg atcctttgtt tgttatcagt tttgtttgtt
     4741 aactataaaa tattttccat tggaaagggg tacctataaa tgtcttctgc tgctaatatt
     4801 tatctcagca ctttctaaac ccaaaagtgc tacctaagaa gaaatttagc caaaaaatac
     4861 ccagctaagg tagccatagc caagtgtatt taagtatgtt atagaatata tttgaaagct
     4921 tcctttcagt ttgagctttg tatctgctgt ggaactgtta tggttgattg ggtagttatt
     4981 tttcattctt ataaggttca aagtaacagc tgaggattta gaaaacaaga ataccaaata
     5041 gaatacgaaa taataaagat aaaccaaaag aataccaaat aataaagatt tttaagaaat
     5101 gga
//
