LOCUS       NM_032328               1418 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript
            variant 1, mRNA.
ACCESSION   NM_032328
VERSION     NM_032328.4
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 1418)
  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 1418)
  AUTHORS   Bower,R., Tritschler,D., Vanderwaal,K., Perrone,C.A., Mueller,J.,
            Fox,L., Sale,W.S. and Porter,M.E.
  TITLE     The N-DRC forms a conserved biochemical complex that maintains
            outer doublet alignment and limits microtubule sliding in motile
            axonemes
  JOURNAL   Mol Biol Cell 24 (8), 1134-1152 (2013)
   PUBMED   23427265
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356512.19, BG701985.1,
            DB286332.1, BC005357.1, BQ438351.1 and AW661993.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 13, 2020 this sequence version replaced NM_032328.3.
            
            Summary: The gene encodes a protein that contains two EF-hand
            calcium-binding domains although its function has yet to be
            determined. Alternatively spliced transcripts have been observed.
            [provided by RefSeq, Mar 2014].
            
            Transcript Variant: This variant (1) differs in the 5' UTR and uses
            an alternate 3' terminal exon compared to variant 2. The resulting
            protein (isoform a) is longer and has a distinct C-terminus
            compared to isoform b.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BI546601.1, BG701985.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366523.6/ ENSP00000355480.1
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-187               AL356512.19        21976-22162
            188-393             BG701985.1         5-210
            394-423             DB286332.1         34-63
            424-652             BC005357.1         1-229
            653-1077            BQ438351.1         233-657
            1078-1418           AW661993.1         2-342               c
FEATURES             Location/Qualifiers
     source          1..1418
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q44"
     gene            1..1418
                     /gene="EFCAB2"
                     /gene_synonym="CFAP200; DRC8"
                     /note="EF-hand calcium binding domain 2"
                     /db_xref="GeneID:84288"
                     /db_xref="HGNC:HGNC:28166"
                     /db_xref="MIM:619617"
     exon            1..362
                     /gene="EFCAB2"
                     /gene_synonym="CFAP200; DRC8"
                     /inference="alignment:Splign:2.1.0"
     exon            363..477
                     /gene="EFCAB2"
                     /gene_synonym="CFAP200; DRC8"
                     /inference="alignment:Splign:2.1.0"
     CDS             453..941
                     /gene="EFCAB2"
                     /gene_synonym="CFAP200; DRC8"
                     /note="isoform a is encoded by transcript variant 1;
                     EF-hand calcium-binding domain-containing protein 2;
                     dynein regulatory complex subunit 8; dynein regulatory
                     complex protein 8"
                     /codon_start=1
                     /product="dynein regulatory complex protein 8 isoform a"
                     /protein_id="NP_115704.1"
                     /db_xref="CCDS:CCDS31082.1"
                     /db_xref="GeneID:84288"
                     /db_xref="HGNC:HGNC:28166"
                     /db_xref="MIM:619617"
                     /translation="MADEKDREEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIR
                     SLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFE
                     VLDSAKRGFLTKDELIKYMTEEGEPFSQEEMEEMLSAAIDPESNSINYKDYITMMVID
                     EN"
     exon            478..562
                     /gene="EFCAB2"
                     /gene_synonym="CFAP200; DRC8"
                     /inference="alignment:Splign:2.1.0"
     exon            563..635
                     /gene="EFCAB2"
                     /gene_synonym="CFAP200; DRC8"
                     /inference="alignment:Splign:2.1.0"
     exon            636..715
                     /gene="EFCAB2"
                     /gene_synonym="CFAP200; DRC8"
                     /inference="alignment:Splign:2.1.0"
     exon            716..758
                     /gene="EFCAB2"
                     /gene_synonym="CFAP200; DRC8"
                     /inference="alignment:Splign:2.1.0"
     exon            759..825
                     /gene="EFCAB2"
                     /gene_synonym="CFAP200; DRC8"
                     /inference="alignment:Splign:2.1.0"
     exon            826..1418
                     /gene="EFCAB2"
                     /gene_synonym="CFAP200; DRC8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1207..1212
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFCAB2"
                     /gene_synonym="CFAP200; DRC8"
                     /note="hexamer: AATAAA"
     polyA_site      1234
                     /gene="EFCAB2"
                     /gene_synonym="CFAP200; DRC8"
                     /note="major polyA site"
     regulatory      1359..1364
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFCAB2"
                     /gene_synonym="CFAP200; DRC8"
                     /note="hexamer: AACAAA"
     polyA_site      1375
                     /gene="EFCAB2"
                     /gene_synonym="CFAP200; DRC8"
     regulatory      1402..1407
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFCAB2"
                     /gene_synonym="CFAP200; DRC8"
                     /note="hexamer: AATAAA"
     polyA_site      1418
                     /gene="EFCAB2"
                     /gene_synonym="CFAP200; DRC8"
ORIGIN      
        1 attcctctcc tctagcaata gtcgaatggc tctggtttcc tcttgcgccc ggcccagttt
       61 ttccgtttta gcttcggttg tcataggctg tgctgtcgct ttctctggga aaggacggtg
      121 aagactggac gggagaaacc gggagggcag gcgcggccgt tctgcagcag ccgggccgct
      181 tcccggcggg aggcgggctg cgaatgggaa gcgggaggag gaggccgggc cgcgggctgg
      241 ttctatcacc cccttgggag cccagctctt cacctagctc tccggcgctt ttcaaaatct
      301 gcagttaaca acaaaaatcg agcaacgcca cgtcgcacaa acaggacagg agggggcgag
      361 gggccaggct cgccgcgggg cgctgagcag gccgggacac cgcggccgag gttatcgtta
      421 ggcatctccc aggcgaccgg ctccgcagca agatggcgga cgagaaggac agggaagaga
      481 taatagtagc agaatttcac aaaaaaatca aagaggcatt tgaagtcttt gaccatgagt
      541 cgaataatac agtggatgtg agagagattg gaacaattat caggtcatta ggatgctgtc
      601 ctacggaagg agagctgcat gatctgattg cagaggtaga ggaagaagaa cccactggat
      661 acattcgatt cgaaaaattt cttccggtga tgacagaaat actactagaa agaaaataca
      721 gaccaattcc agaagatgtc cttcttcgag cttttgaggt tttagattca gctaaacgtg
      781 ggtttcttac taaggacgag ctgatcaagt atatgactga agaaggtgag cctttttctc
      841 aagaggaaat ggaagaaatg ttgtctgctg caattgatcc agaatcaaat tcaattaatt
      901 acaaggacta tataacaatg atggtgatag atgaaaatta aatgttctaa agataatttc
      961 tgattgaaag aacaatttta gaaattgctt gttcttgtta atttcacatc ttatcttagg
     1021 attcctatat gtgatattta ataccttgtg acataactat tttaagacac tttgttttta
     1081 aagatgatcg taacacttta aaccaaattt agtatgtcta gccttacaga atgataaatt
     1141 actatttatt taaaaactat tcttaaaaca ttttaacatt agaatggatt gttgtttatt
     1201 ttctacaata aaactcaggt caccttcgaa ttaattaagc tgacaaaatg aaaatgactt
     1261 aattacccaa ggtttggcat gtaaagatct taagaggggg cagaacgaac cactcgaaaa
     1321 cgagtagcag tgtaatgaag gcttcttttt taaacaataa caaatgcttc atcaatctga
     1381 gtgtggaagg tgatttatca aaataaatat tactaatt
//
