LOCUS       NM_025202               1878 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens EF-hand domain family member D1 (EFHD1), transcript
            variant 1, mRNA.
ACCESSION   NM_025202
VERSION     NM_025202.4
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 1878)
  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 1878)
  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 1878)
  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 1878)
  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 1878)
  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 1878)
  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 1878)
  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 AC073254.6, BC002449.2,
            AC064852.4 and AF218006.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_025202.3.
            
            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 (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC035476.1, SRR3476690.420233.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264059.8/ ENSP00000264059.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                AC073254.6         62657-62666
            11-1376             BC002449.2         1-1366
            1377-1715           AC064852.4         29800-30138
            1716-1878           AF218006.1         1698-1860
FEATURES             Location/Qualifiers
     source          1..1878
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..1878
                     /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..403
                     /gene="EFHD1"
                     /gene_synonym="MST133; MSTP133; PP3051; SWS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             102..821
                     /gene="EFHD1"
                     /gene_synonym="MST133; MSTP133; PP3051; SWS2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     swiprosin-2; EF-hand domain-containing protein 1"
                     /codon_start=1
                     /product="EF-hand domain-containing protein D1 isoform 1"
                     /protein_id="NP_079478.1"
                     /db_xref="CCDS:CCDS2497.1"
                     /db_xref="GeneID:80303"
                     /db_xref="HGNC:HGNC:29556"
                     /db_xref="MIM:611617"
                     /translation="MASEELACKLERRLRREEAEESGPQLAPLGAPAPEPKPEPEPPA
                     RAPTASADAELSAQLSRRLDINEGAARPRRCRVFNPYTEFPEFSRRLIKDLESMFKLY
                     DAGRDGFIDLMELKLMMEKLGAPQTHLGLKSMIKEVDEDFDGKLSFREFLLIFHKAAA
                     GELQEDSGLMALAKLSEIDVALEGVKGAKNFFEAKVQALSSASKFEAELKAEQDERKR
                     EEEERRLRQAAFQKLKANFNT"
     exon            404..551
                     /gene="EFHD1"
                     /gene_synonym="MST133; MSTP133; PP3051; SWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            552..686
                     /gene="EFHD1"
                     /gene_synonym="MST133; MSTP133; PP3051; SWS2"
                     /inference="alignment:Splign:2.1.0"
     exon            687..1878
                     /gene="EFHD1"
                     /gene_synonym="MST133; MSTP133; PP3051; SWS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1854..1859
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFHD1"
                     /gene_synonym="MST133; MSTP133; PP3051; SWS2"
                     /note="hexamer: AATAAA"
     polyA_site      1878
                     /gene="EFHD1"
                     /gene_synonym="MST133; MSTP133; PP3051; SWS2"
                     /note="major polyA site"
ORIGIN      
        1 ggagtgttgt agagcctcga gcctgcgagg agcgcgccgc ccgccagctc cctgcgtccc
       61 gtcccgcgtc cccgcgttcc cgcgtcctgc gatccgccgc catggccagt gaggagctgg
      121 cgtgcaagct ggagcgccgg ctgcggcgcg aggaggccga ggagagtggc ccccagctgg
      181 ctcccctcgg cgccccagcc ccggagccca agcccgagcc cgagcctccc gcccgtgcgc
      241 ccacggccag cgccgacgcg gagctgagcg cccagctgag ccggcggctg gacatcaacg
      301 agggcgctgc gcggccccgg cgctgcaggg tcttcaaccc ctacacggag ttcccggagt
      361 tcagccgccg cctcatcaag gacctggaga gcatgttcaa actgtatgac gctgggcggg
      421 atggcttcat cgacctgatg gagctgaagc tgatgatgga gaagctgggg gccccccaga
      481 cccacctggg cctgaagagc atgatcaagg aggtggatga ggacttcgat ggcaagctca
      541 gcttccggga gttcctgctc attttccaca aggccgcggc aggggagctg caggaggaca
      601 gtgggctgat ggcgctggca aagctttctg agatcgatgt ggccctggag ggtgtcaaag
      661 gtgccaagaa cttctttgaa gccaaggtcc aagccttgtc atcggccagt aagtttgaag
      721 cagagttgaa agctgagcaa gatgagcgga agcgggagga ggaggagagg cggctccgcc
      781 aggcagcctt ccagaaactc aaggccaact tcaatacata gtcctgctga ccttgccctc
      841 tgcccacagc tgtgcctcac agatgccccg agaagagatg actaggcatc ttcatcactg
      901 ctgtcggtcc cctccctgag ccagcatctc catccaccac cccgtgccag ctcccgtgcc
      961 agccttcatt cctcccagtg tccaagcccc tccaggaggg tcctggggtg ggccagatgc
     1021 ctgcccacct ctgtctcctg cctctgctcc tctgcccttc ttatagccag aacttgtatc
     1081 ttctcagcaa ccttcacttt gtccttgtcc ctttaccatt ccccatcaaa gagtagtctg
     1141 ctatatcaat ttgtgtagat atgtctgtct ttttgggtcc tcagagaaaa tgcccatttt
     1201 ctcggagaat tctctgcact cctctctgct tcacattcaa cttccctgtt ctcatctttg
     1261 gtaggattct gccagttgct tttgcatctt ctgttcctgg gtaatggtgg gtcttaatgg
     1321 aggctgggtg gaccactgcc cgtccactct tcaacaggag gaacagcatg ccaccatagt
     1381 aacacacatt agagaaagga cagaggtctg ctccttcctg ccacctttct cctggcccct
     1441 tagcattccc ccagtccctc cctcttcacc ttgctccgtc tatgtcttcc cagctcagcc
     1501 ttttccccac tcttaaatac tgtactactt cactgtaaga acgaaagaat agttaggata
     1561 ccaatgagta aaagggttcc tgttcactct gactctgtgc aaattgtatt acagtagacc
     1621 gctgacgttc ccaagtgaca gatccagggc ctttcaaaca tccccaaagt catggccata
     1681 ctcaccatta gccagtttct aacatctgtt tcagggtatc cagctgtaga tgttcttatc
     1741 ccccatactt gtgagttctt ggggttgctc acaaatacta ggggtttttg ttgtattttt
     1801 aacaaatata tcctaatgtc atatttattc tcttttgtaa ctgctgtctt tacaataaag
     1861 aaatcatctg cctttcta
//
