LOCUS       NM_032437               2178 bp    mRNA    linear   PRI 09-FEB-2024
DEFINITION  Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.
ACCESSION   NM_032437 XM_371257
VERSION     NM_032437.4
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 2178)
  AUTHORS   Nguyen,T.Q.N., Doan,N.M.T., Trinh,H.T. and Mizuguchi,M.
  TITLE     Novel mutation in EFCAB7 alters expression and interaction of
            Ellis-van Creveld ciliary proteins
  JOURNAL   Congenit Anom (Kyoto) 59 (2), 49-50 (2019)
   PUBMED   29845660
  REMARK    GeneRIF: Novel mutation in EFCAB7 alters expression and interaction
            with EVC2 protein.
REFERENCE   2  (bases 1 to 2178)
  AUTHORS   Nguyen,T.Q., Saitoh,M., Trinh,H.T., Doan,N.M., Mizuno,Y., Seki,M.,
            Sato,Y., Ogawa,S. and Mizuguchi,M.
  TITLE     Truncation and microdeletion of EVC/EVC2 with missense mutation of
            EFCAB7 in Ellis-van Creveld syndrome
  JOURNAL   Congenit Anom (Kyoto) 56 (5), 209-216 (2016)
   PUBMED   26748586
  REMARK    GeneRIF: we detected two novel nonsense mutations and a partial
            deletion of EVC/EVC2 in two Vietnamese families with EvC. Moreover,
            we found in one family a missense mutation of EFCAB7, a possible
            modifier gene in EvC and its related disorders.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK315850.1 and AL833720.1.
            
            On Nov 22, 2018 this sequence version replaced NM_032437.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.244890.1, AK292220.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371088.5/ ENSP00000360129.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2177              AK315850.1         1-2177
            2178-2178           AL833720.1         3794-3794
FEATURES             Location/Qualifiers
     source          1..2178
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.3"
     gene            1..2178
                     /gene="EFCAB7"
                     /note="EF-hand calcium binding domain 7"
                     /db_xref="GeneID:84455"
                     /db_xref="HGNC:HGNC:29379"
                     /db_xref="MIM:617632"
     exon            1..110
                     /gene="EFCAB7"
                     /inference="alignment:Splign:2.1.0"
     exon            111..298
                     /gene="EFCAB7"
                     /inference="alignment:Splign:2.1.0"
     CDS             112..2001
                     /gene="EFCAB7"
                     /codon_start=1
                     /product="EF-hand calcium-binding domain-containing
                     protein 7"
                     /protein_id="NP_115813.2"
                     /db_xref="CCDS:CCDS30737.1"
                     /db_xref="GeneID:84455"
                     /db_xref="HGNC:HGNC:29379"
                     /db_xref="MIM:617632"
                     /translation="MAISPRSDATFSSQKSTPSESPRTKKFPLTEEEIFYMNCRAAYL
                     TVFKSSLENIISKDQLYLALQHAGRNPSQKTINKYWTPQTAKLNFDDFCIILRKEKPT
                     SKAELLKSFKQLDVNDDGCILHTDLYKFLTKRGEKMTREEVNAIINLADVNADGKFDY
                     IKFCKLYMTTNEQCLKTTLEKLEVDSKLMRHQFGNHIEGSPERDPSPVPKPSPKITRK
                     TDPETFLNKGDTRSSLLSATRKFKTSVSFTVTMGANGNRNSKLMEPNLIKDWQHMQSK
                     GCFFLEEDGEIISHQYRMQIAQRSMVYLTIKPLNLSQVEGKPSPWLSVDTALYILKEN
                     ESQANLQLVCFTELRNREVFGWTGELGPGIYWLIPSTTGCRLRKKIKPVTDEAQLVYR
                     DETGELFLTKEFKSTLSDIFEVIDLDGNGLLSLEEYNFFELRTSGEKCDEDAWAVCRE
                     NFDTKRNELTRQGFMDLNLMEANDREGDPCDLWVTLHSMGYNKALELTEACPFVIDIY
                     AEKCKPKIKAVHMEACSGQLEKAICKSVLSNGDAKVMDGYENIIVHTYSCDTWITSVI
                     ENKSDEKVIIHISNELSKNCINNRGLNIFAVEVGPKSTMVCQHVMPLNERQEWIYYCI
                     YSLIS"
     exon            299..510
                     /gene="EFCAB7"
                     /inference="alignment:Splign:2.1.0"
     exon            511..597
                     /gene="EFCAB7"
                     /inference="alignment:Splign:2.1.0"
     exon            598..793
                     /gene="EFCAB7"
                     /inference="alignment:Splign:2.1.0"
     exon            794..915
                     /gene="EFCAB7"
                     /inference="alignment:Splign:2.1.0"
     exon            916..1057
                     /gene="EFCAB7"
                     /inference="alignment:Splign:2.1.0"
     exon            1058..1167
                     /gene="EFCAB7"
                     /inference="alignment:Splign:2.1.0"
     exon            1168..1325
                     /gene="EFCAB7"
                     /inference="alignment:Splign:2.1.0"
     exon            1326..1459
                     /gene="EFCAB7"
                     /inference="alignment:Splign:2.1.0"
     exon            1460..1608
                     /gene="EFCAB7"
                     /inference="alignment:Splign:2.1.0"
     exon            1609..1818
                     /gene="EFCAB7"
                     /inference="alignment:Splign:2.1.0"
     exon            1819..1926
                     /gene="EFCAB7"
                     /inference="alignment:Splign:2.1.0"
     exon            1927..2178
                     /gene="EFCAB7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2155..2160
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFCAB7"
                     /note="hexamer: ATTAAA"
     polyA_site      2178
                     /gene="EFCAB7"
                     /note="major polyA site"
ORIGIN      
        1 agttgccatg gtgattagag aaaggccgag atctgtccag ctgcggtgag aggaacgctg
       61 aatcgccgaa gagaattggc tgcgcttcct tgtttgtgag ctagaattag aatggcgatc
      121 agtccacgaa gcgatgcaac tttctccagt cagaaatcaa caccttcaga gagtcctcga
      181 acaaagaaat ttccactaac tgaagaggaa atattttata tgaattgtag agctgcctac
      241 ttaactgtct tcaaaagcag cttggaaaac attatttcta aagatcaact ttacttagct
      301 cttcagcatg caggaagaaa tccatcccaa aagaccatta ataagtattg gactcctcaa
      361 actgccaaac tgaattttga tgatttttgt ataattttaa ggaaggaaaa acctacttca
      421 aaagcagaac tactaaaatc atttaagcaa ttagatgtaa atgatgatgg ctgtatttta
      481 cacactgacc tttataaatt tctaacaaag agaggtgaga agatgactcg agaagaagta
      541 aatgccataa taaatttggc tgatgtaaat gctgatggca aatttgacta catcaagttt
      601 tgtaaattat atatgacaac caacgagcaa tgtctcaaga ctacactaga aaaactagag
      661 gttgacagta aattgatgcg tcaccagttt ggaaaccaca tcgaagggtc ccctgaaagg
      721 gacccatcac cagtaccaaa accatcacct aaaatcacaa gaaaaactga tccagaaaca
      781 ttcttaaata aaggtgacac caggagttct ttactgtcag caaccaggaa gttcaaaaca
      841 tctgtttcct tcacagttac catgggggct aatggtaacc gaaactcaaa gttaatggag
      901 ccaaatttaa taaaggactg gcaacacatg caatcaaaag gttgcttctt cttagaagaa
      961 gatggtgaaa tcattagtca tcagtacagg atgcaaatag ctcagaggtc catggtttat
     1021 ctaacaatta agccattaaa cctgagtcaa gttgaaggaa aaccatcccc ttggttatcc
     1081 gttgatactg ccttgtatat tctcaaggaa aatgagagtc aagcaaatct acagcttgtg
     1141 tgttttaccg aactacgaaa tagagaagtg tttggatgga ctggtgaact aggacctgga
     1201 atttactggt taattccttc cacaactggc tgtaggctga ggaaaaaaat aaaaccagta
     1261 acagatgaag cccaacttgt atatagagat gaaacagggg aattattcct tacaaaggaa
     1321 tttaagtcta ctttatcaga tatatttgaa gtaattgatt tagatggaaa tggtcttctt
     1381 agccttgaag aatataattt ttttgaattg agaacaagtg gtgagaaatg tgatgaagat
     1441 gcttgggctg tctgcagaga gaattttgat acaaagagga atgaactaac aagacaagga
     1501 tttatggatt tgaatctaat ggaagctaat gatcgagaag gagatccttg tgacctttgg
     1561 gtaactctac actctatggg ctacaataaa gctctggagt tgacagaggc atgtccattt
     1621 gtcattgata tctatgcaga aaaatgcaag ccaaaaatta aagctgtcca tatggaggca
     1681 tgtagtggac aacttgagaa ggccatttgt aaatctgttc ttagcaacgg tgatgccaaa
     1741 gtaatggatg gctatgaaaa tataatcgtg catacttaca gttgtgacac ctggataacg
     1801 tcagttattg aaaacaagtc agatgagaaa gtgattattc acatcagcaa tgagctaagt
     1861 aaaaactgca taaacaacag aggactcaac atatttgcag tagaagtggg acccaaatct
     1921 acaatggttt gtcaacatgt aatgcctttg aatgaacgac aagaatggat atattattgt
     1981 atatattctc ttatttctta aataattata cttagaactt accaaactaa gaattatttc
     2041 agatttagtc tgttatttat taaacaacta aatgctactt aactgatgta cctaaataat
     2101 aatctattca atttatatgc attttcattt tatgtccatg gtatgtactt tattattaaa
     2161 atataaataa tgctttca
//
