ID   EFCC1_HUMAN             Reviewed;         598 AA.
AC   Q9HA90; A8MYE2;
DT   16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT   13-JUL-2010, sequence version 2.
DT   27-MAR-2024, entry version 131.
DE   RecName: Full=EF-hand and coiled-coil domain-containing protein 1;
DE   AltName: Full=Coiled-coil domain-containing protein 48;
GN   Name=EFCC1; Synonyms=C3orf73, CCDC48;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Embryo;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16641997; DOI=10.1038/nature04728;
RA   Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA   Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA   Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA   Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA   Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA   Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA   Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA   Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA   Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA   Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA   Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA   Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA   Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA   Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA   Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA   Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA   Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA   Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA   Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT   "The DNA sequence, annotation and analysis of human chromosome 3.";
RL   Nature 440:1194-1198(2006).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 113-276 AND 431-598 (ISOFORM 1).
RC   TISSUE=Brain, and Ovary;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q9HA90-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9HA90-2; Sequence=VSP_039449;
CC   -!- CAUTION: It is uncertain whether Met-1 or Met-12 is the initiator.
CC       {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH93800.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC       Sequence=AAI12196.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR   EMBL; AK022119; BAB13964.1; -; mRNA.
DR   EMBL; AC112484; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC093800; AAH93800.1; ALT_INIT; mRNA.
DR   EMBL; BC112195; AAI12196.1; ALT_INIT; mRNA.
DR   EMBL; BF058142; -; NOT_ANNOTATED_CDS; mRNA.
DR   CCDS; CCDS3054.2; -. [Q9HA90-1]
DR   RefSeq; NP_079044.2; NM_024768.2. [Q9HA90-1]
DR   AlphaFoldDB; Q9HA90; -.
DR   SMR; Q9HA90; -.
DR   BioGRID; 122918; 4.
DR   IntAct; Q9HA90; 1.
DR   STRING; 9606.ENSP00000414597; -.
DR   iPTMnet; Q9HA90; -.
DR   PhosphoSitePlus; Q9HA90; -.
DR   BioMuta; EFCC1; -.
DR   DMDM; 300669629; -.
DR   MassIVE; Q9HA90; -.
DR   PaxDb; 9606-ENSP00000414597; -.
DR   PeptideAtlas; Q9HA90; -.
DR   ProteomicsDB; 81385; -. [Q9HA90-1]
DR   Antibodypedia; 55576; 24 antibodies from 9 providers.
DR   DNASU; 79825; -.
DR   Ensembl; ENST00000436022.2; ENSP00000414597.3; ENSG00000114654.8. [Q9HA90-1]
DR   GeneID; 79825; -.
DR   KEGG; hsa:79825; -.
DR   UCSC; uc011bkt.2; human. [Q9HA90-1]
DR   AGR; HGNC:25692; -.
DR   CTD; 79825; -.
DR   DisGeNET; 79825; -.
DR   GeneCards; EFCC1; -.
DR   HGNC; HGNC:25692; EFCC1.
DR   HPA; ENSG00000114654; Tissue enhanced (lung).
DR   neXtProt; NX_Q9HA90; -.
DR   OpenTargets; ENSG00000114654; -.
DR   PharmGKB; PA142672165; -.
DR   VEuPathDB; HostDB:ENSG00000114654; -.
DR   eggNOG; ENOG502QUT5; Eukaryota.
DR   GeneTree; ENSGT00950000183014; -.
DR   HOGENOM; CLU_456299_0_0_1; -.
DR   InParanoid; Q9HA90; -.
DR   OMA; RCDDKAF; -.
DR   OrthoDB; 5400894at2759; -.
DR   PhylomeDB; Q9HA90; -.
DR   TreeFam; TF330736; -.
DR   PathwayCommons; Q9HA90; -.
DR   SignaLink; Q9HA90; -.
DR   BioGRID-ORCS; 79825; 21 hits in 1137 CRISPR screens.
DR   GenomeRNAi; 79825; -.
DR   Pharos; Q9HA90; Tdark.
DR   PRO; PR:Q9HA90; -.
DR   Proteomes; UP000005640; Chromosome 3.
DR   RNAct; Q9HA90; Protein.
DR   Bgee; ENSG00000114654; Expressed in upper lobe of left lung and 99 other cell types or tissues.
DR   GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR   InterPro; IPR031601; CCD48.
DR   InterPro; IPR002048; EF_hand_dom.
DR   Pfam; PF15799; CCD48; 1.
DR   PROSITE; PS50222; EF_HAND_2; 1.
DR   Genevisible; Q9HA90; HS.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Coiled coil; Reference proteome.
FT   CHAIN           1..598
FT                   /note="EF-hand and coiled-coil domain-containing protein 1"
FT                   /id="PRO_0000234510"
FT   DOMAIN          54..89
FT                   /note="EF-hand"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT   REGION          1..22
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          96..127
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          175..198
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          326..411
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COILED          196..303
FT                   /evidence="ECO:0000255"
FT   COILED          479..533
FT                   /evidence="ECO:0000255"
FT   COMPBIAS        328..342
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         1..437
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_039449"
FT   VARIANT         528
FT                   /note="R -> Q (in dbSNP:rs3732430)"
FT                   /id="VAR_050753"
SQ   SEQUENCE   598 AA;  65701 MW;  414C1E0FF5F47EA0 CRC64;
     MEPVSTGAEA GMEGAGGDPY RRPARRTQWL LSALAHHYGL DRGVENEIVV LATGLDQYLQ
     EVFHHLDCRG AGRLPRADFR ALCAVLGLRA EGATTAGQAA GDGNSRDVTP GDAAAELATD
     GDSDTDEEAR LALRAEPPEL TFRQFHARLC GYFGTRAGPR LPRGALSEHI ETQIRLRRPR
     RRRRPPCAPG PDSGPDCERV ARLEEENSSL RELVEDLRAA LQSSDARCLA LQVGLWKSQA
     STHEMGHGGP EAAVRELRQA QGALAAAEAR AGRLRRGQAE VRRRAEEARQ VVLRSLHRVR
     ELEALAQQVP GLQRWVRRLE AELQRYRSED SQLPTPQLAN PEPGDKSNEP EDAGTRDPDP
     TPEGAWQSDS SSGSRALDEV DEQLFRSVEG QAASDEEEVE EERWQEEKKT PAAEAKTLLA
     RLSSCRGRCD DQTAEKLMTY FGHFGGANHA HTLGELEACI AMLVEQLRTQ GCGGRTLGTS
     EEEAELQQKV EENEHLRLEL QMVETERVRL SLLEEKLVDV LQLLQRLRDL NISKRALGKI
     LLSTLDAFRD PTHEGRPSPA AILDALHQAL AACQLLRRQP SAPASAAAAL TNPLLVSC
//