LOCUS       NM_001243252            1592 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens EF-hand domain family member D1 (EFHD1), transcript
            variant 2, mRNA.
ACCESSION   NM_001243252 NR_027663
VERSION     NM_001243252.2
KEYWORDS    RefSeq.
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 1592)
  AUTHORS   Meng,K., Hu,Y., Wang,D., Li,Y., Shi,F., Lu,J., Wang,Y., Cao,Y.,
            Zhang,C.Z. and He,Q.Y.
  TITLE     EFHD1, a novel mitochondrial regulator of tumor metastasis in clear
            cell renal cell carcinoma
  JOURNAL   Cancer Sci 114 (5), 2029-2040 (2023)
   PUBMED   36747492
  REMARK    GeneRIF: EFHD1, a novel mitochondrial regulator of tumor metastasis
            in clear cell renal cell carcinoma.
REFERENCE   2  (bases 1 to 1592)
  AUTHORS   Qin,Y., Huttlin,E.L., Winsnes,C.F., Gosztyla,M.L., Wacheul,L.,
            Kelly,M.R., Blue,S.M., Zheng,F., Chen,M., Schaffer,L.V., Licon,K.,
            Backstrom,A., Vaites,L.P., Lee,J.J., Ouyang,W., Liu,S.N., Zhang,T.,
            Silva,E., Park,J., Pitea,A., Kreisberg,J.F., Gygi,S.P., Ma,J.,
            Harper,J.W., Yeo,G.W., Lafontaine,D.L.J., Lundberg,E. and Ideker,T.
  TITLE     A multi-scale map of cell structure fusing protein images and
            interactions
  JOURNAL   Nature 600 (7889), 536-542 (2021)
   PUBMED   34819669
REFERENCE   3  (bases 1 to 1592)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 1592)
  AUTHORS   Hou,T., Jian,C., Xu,J., Huang,A.Y., Xi,J., Hu,K., Wei,L., Cheng,H.
            and Wang,X.
  TITLE     Identification of EFHD1 as a novel Ca(2+) sensor for mitoflash
            activation
  JOURNAL   Cell Calcium 59 (5), 262-270 (2016)
   PUBMED   26975899
  REMARK    GeneRIF: EFHD1 functions as a novel mitochondrial Ca(2+) sensor
            underlying Ca(2+)-dependent activation of mitoflashes
REFERENCE   5  (bases 1 to 1592)
  AUTHORS   Takane,K., Midorikawa,Y., Yagi,K., Sakai,A., Aburatani,H.,
            Takayama,T. and Kaneda,A.
  TITLE     Aberrant promoter methylation of PPP1R3C and EFHD1 in plasma of
            colorectal cancer patients
  JOURNAL   Cancer Med 3 (5), 1235-1245 (2014)
   PUBMED   24861485
  REMARK    GeneRIF: detection of methylation of PPP1R3C alone or in
            combination with EFHD1 in plasma DNA showed high sensitivity and
            specificity in CRC detection, and may be useful detection method
            for CRC, especially for early-stage CRCs.
REFERENCE   6  (bases 1 to 1592)
  AUTHORS   Dutting,S., Brachs,S. and Mielenz,D.
  TITLE     Fraternal twins: Swiprosin-1/EFhd2 and Swiprosin-2/EFhd1, two
            homologous EF-hand containing calcium binding adaptor proteins with
            distinct functions
  JOURNAL   Cell Commun Signal 9, 2 (2011)
   PUBMED   21244694
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1592)
  AUTHORS   Tominaga,M. and Tomooka,Y.
  TITLE     Novel genes cloned from a neuronal cell line newly established from
            a cerebellum of an adult p53(-/-) mouse
  JOURNAL   Biochem Biophys Res Commun 297 (3), 473-479 (2002)
   PUBMED   12270117
  REMARK    GeneRIF: Cloning of novel mouse genes associated with neuronal
            function, including Efhd1.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK310565.1, DB461847.1 and
            BM677018.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001243252.1.
            
            Summary: This gene encodes a member of the EF-hand super family of
            calcium binding proteins, which are involved in a variety of
            cellular processes including mitosis, synaptic transmission, and
            cytoskeletal rearrangement. The protein encoded by this gene is
            composed of an N-terminal disordered region, proline-rich elements,
            two EF-hands, and a C-terminal coiled-coil domain. This protein has
            been shown to associate with the mitochondrial inner membrane, and
            in HeLa cells, acts as a novel mitochondrial calcium ion sensor for
            mitochondrial flash activation. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region and uses an alternate start codon,
            compared to variant 1. The encoded isoform (2) is shorter and has a
            distinct N-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK310565.1, DB108402.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-371               AK310565.1         1-371
            372-486             DB461847.1         369-483
            487-1090            AK310565.1         487-1090
            1091-1592           BM677018.1         18-519              c
FEATURES             Location/Qualifiers
     source          1..1592
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..1592
                     /gene="EFHD1"
                     /gene_synonym="MST133; MSTP133; PP3051; SWS2"
                     /note="EF-hand domain family member D1"
                     /db_xref="GeneID:80303"
                     /db_xref="HGNC:HGNC:29556"
                     /db_xref="MIM:611617"
     exon            1..117
                     /gene="EFHD1"
                     /gene_synonym="MST133; MSTP133; PP3051; SWS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             104..535
                     /gene="EFHD1"
                     /gene_synonym="MST133; MSTP133; PP3051; SWS2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     swiprosin-2; EF-hand domain-containing protein 1"
                     /codon_start=1
                     /product="EF-hand domain-containing protein D1 isoform 2"
                     /protein_id="NP_001230181.1"
                     /db_xref="CCDS:CCDS58755.1"
                     /db_xref="GeneID:80303"
                     /db_xref="HGNC:HGNC:29556"
                     /db_xref="MIM:611617"
                     /translation="MGELQYDAGRDGFIDLMELKLMMEKLGAPQTHLGLKSMIKEVDE
                     DFDGKLSFREFLLIFHKAAAGELQEDSGLMALAKLSEIDVALEGVKGAKNFFEAKVQA
                     LSSASKFEAELKAEQDERKREEEERRLRQAAFQKLKANFNT"
     exon            118..265
                     /gene="EFHD1"
                     /gene_synonym="MST133; MSTP133; PP3051; SWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            266..400
                     /gene="EFHD1"
                     /gene_synonym="MST133; MSTP133; PP3051; SWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            401..1592
                     /gene="EFHD1"
                     /gene_synonym="MST133; MSTP133; PP3051; SWS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1568..1573
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFHD1"
                     /gene_synonym="MST133; MSTP133; PP3051; SWS2"
                     /note="hexamer: AATAAA"
     polyA_site      1592
                     /gene="EFHD1"
                     /gene_synonym="MST133; MSTP133; PP3051; SWS2"
                     /note="major polyA site"
ORIGIN      
        1 gctaagtgca ggcggatacc ccggccttgg cggctgcttg cctttctccg tactgtccct
       61 gtgaaggcca agatctgtaa cgctgacagt ccccagacat acgatgggag agttgcagta
      121 tgacgctggg cgggatggct tcatcgacct gatggagctg aagctgatga tggagaagct
      181 gggggccccc cagacccacc tgggcctgaa gagcatgatc aaggaggtgg atgaggactt
      241 cgatggcaag ctcagcttcc gggagttcct gctcattttc cacaaggccg cggcagggga
      301 gctgcaggag gacagtgggc tgatggcgct ggcaaagctt tctgagatcg atgtggccct
      361 ggagggtgtc aaaggtgcca agaacttctt tgaagccaag gtccaagcct tgtcatcggc
      421 cagtaagttt gaagcagagt tgaaagctga gcaagatgag cggaagcggg aggaggagga
      481 gaggcggctc cgccaggcag ccttccagaa actcaaggcc aacttcaata catagtcctg
      541 ctgaccttgc cctctgccca cagctgtgcc tcacagatgc cccgagaaga gatgactagg
      601 catcttcatc actgctgtcg gtcccctccc tgagccagca tctccatcca ccaccccgtg
      661 ccagctcccg tgccagcctt cattcctccc agtgtccaag cccctccagg agggtcctgg
      721 ggtgggccag atgcctgccc acctctgtct cctgcctctg ctcctctgcc cttcttatag
      781 ccagaacttg tatcttctca gcaaccttca ctttgtcctt gtccctttac cattccccat
      841 caaagagtag tctgctatat caatttgtgt agatatgtct gtctttttgg gtcctcagag
      901 aaaatgccca ttttctcgga gaattctctg cactcctctc tgcttcacat tcaacttccc
      961 tgttctcatc tttggtagga ttctgccagt tgcttttgca tcttctgttc ctgggtaatg
     1021 gtgggtctta atggaggctg ggtggaccac tgcccgtcca ctcttcaaca ggaggaacag
     1081 catgccacca tagtaacaca cattagagaa aggacagagg tctgctcctt cctgccacct
     1141 ttctcctggc cccttagcat tcccccagtc cctccctctt caccttgctc cgtctatgtc
     1201 ttcccagctc agccttttcc ccactcttaa atactgtact acttcactgt aagaacgaaa
     1261 gaatagttag gataccaatg agtaaaaggg ttcctgttca ctctgactct gtgcaaattg
     1321 tattacagta gaccgctgac gttcccaagt gacagatcca gggcctttca aacatcccca
     1381 aagtcatggc catactcacc attagccagt ttctaacatc tgtttcaggg tatccagctg
     1441 tagatgttct tatcccccat acttgtgagt tcttggggtt gctcacaaat actaggggtt
     1501 tttgttgtat ttttaacaaa tatatcctaa tgtcatattt attctctttt gtaactgctg
     1561 tctttacaat aaagaaatca tctgcctttc ta
//
