EFCC1_HUMAN
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 03-AUG-2022, entry version 123.
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; 3.
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; Q9HA90; -.
DR PeptideAtlas; Q9HA90; -.
DR PRIDE; Q9HA90; -.
DR ProteomicsDB; 81385; -. [Q9HA90-1]
DR ProteomicsDB; 81386; -. [Q9HA90-2]
DR Antibodypedia; 55576; 23 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 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; PTHEGRP; -.
DR OrthoDB; 1061806at2759; -.
DR PhylomeDB; Q9HA90; -.
DR TreeFam; TF330736; -.
DR PathwayCommons; Q9HA90; -.
DR SignaLink; Q9HA90; -.
DR BioGRID-ORCS; 79825; 20 hits in 1062 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 tissues.
DR Genevisible; Q9HA90; HS.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
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.
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
