EFCB3_HUMAN
ID EFCB3_HUMAN Reviewed; 438 AA.
AC Q8N7B9; J3KQM8;
DT 17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=EF-hand calcium-binding domain-containing protein 3;
GN Name=EFCAB3;
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].
RC TISSUE=Testis;
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=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cerebellum;
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 -!- INTERACTION:
CC Q8N7B9-2; Q8NA61-2: CBY2; NbExp=3; IntAct=EBI-11958551, EBI-11524851;
CC Q8N7B9-2; Q96D09: GPRASP2; NbExp=3; IntAct=EBI-11958551, EBI-473189;
CC Q8N7B9-2; P00492: HPRT1; NbExp=3; IntAct=EBI-11958551, EBI-748210;
CC Q8N7B9-2; O76011: KRT34; NbExp=3; IntAct=EBI-11958551, EBI-1047093;
CC Q8N7B9-2; Q92764: KRT35; NbExp=3; IntAct=EBI-11958551, EBI-1058674;
CC Q8N7B9-2; Q8TDS5: OXER1; NbExp=3; IntAct=EBI-11958551, EBI-12813389;
CC Q8N7B9-2; Q69YQ0: SPECC1L; NbExp=3; IntAct=EBI-11958551, EBI-351113;
CC Q8N7B9-2; Q5W5X9-3: TTC23; NbExp=3; IntAct=EBI-11958551, EBI-9090990;
CC Q8N7B9-2; O00308: WWP2; NbExp=3; IntAct=EBI-11958551, EBI-743923;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N7B9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N7B9-2; Sequence=VSP_047183;
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DR EMBL; AK098684; BAC05376.1; -; mRNA.
DR EMBL; AC008026; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC101752; AAI01753.1; -; mRNA.
DR EMBL; BC101778; AAI01779.1; -; mRNA.
DR CCDS; CCDS11632.1; -. [Q8N7B9-1]
DR CCDS; CCDS45751.1; -. [Q8N7B9-2]
DR RefSeq; NP_001138405.1; NM_001144933.1. [Q8N7B9-2]
DR RefSeq; NP_775774.1; NM_173503.3. [Q8N7B9-1]
DR RefSeq; XP_011522682.1; XM_011524380.1. [Q8N7B9-1]
DR RefSeq; XP_011522683.1; XM_011524381.1.
DR AlphaFoldDB; Q8N7B9; -.
DR SMR; Q8N7B9; -.
DR BioGRID; 127010; 16.
DR IntAct; Q8N7B9; 9.
DR STRING; 9606.ENSP00000403932; -.
DR TCDB; 8.A.82.4.1; the calmodulin calcium binding protein (calmodulin) family.
DR iPTMnet; Q8N7B9; -.
DR PhosphoSitePlus; Q8N7B9; -.
DR BioMuta; EFCAB3; -.
DR DMDM; 74759977; -.
DR MassIVE; Q8N7B9; -.
DR PaxDb; Q8N7B9; -.
DR PeptideAtlas; Q8N7B9; -.
DR PRIDE; Q8N7B9; -.
DR ProteomicsDB; 72284; -. [Q8N7B9-1]
DR Antibodypedia; 18612; 38 antibodies from 18 providers.
DR DNASU; 146779; -.
DR Ensembl; ENST00000305286.8; ENSP00000302649.3; ENSG00000172421.10. [Q8N7B9-1]
DR Ensembl; ENST00000450662.7; ENSP00000403932.2; ENSG00000172421.10. [Q8N7B9-2]
DR GeneID; 146779; -.
DR KEGG; hsa:146779; -.
DR MANE-Select; ENST00000305286.8; ENSP00000302649.3; NM_173503.4; NP_775774.1.
DR UCSC; uc002izu.3; human. [Q8N7B9-1]
DR CTD; 146779; -.
DR GeneCards; EFCAB3; -.
DR HGNC; HGNC:26379; EFCAB3.
DR HPA; ENSG00000172421; Tissue enriched (testis).
DR MIM; 619567; gene.
DR neXtProt; NX_Q8N7B9; -.
DR OpenTargets; ENSG00000172421; -.
DR PharmGKB; PA143485451; -.
DR VEuPathDB; HostDB:ENSG00000172421; -.
DR eggNOG; KOG0027; Eukaryota.
DR GeneTree; ENSGT00940000161358; -.
DR HOGENOM; CLU_055753_0_0_1; -.
DR InParanoid; Q8N7B9; -.
DR OMA; KKKQNWT; -.
DR OrthoDB; 17796at2759; -.
DR PhylomeDB; Q8N7B9; -.
DR TreeFam; TF328393; -.
DR PathwayCommons; Q8N7B9; -.
DR SignaLink; Q8N7B9; -.
DR BioGRID-ORCS; 146779; 13 hits in 1059 CRISPR screens.
DR ChiTaRS; EFCAB3; human.
DR GenomeRNAi; 146779; -.
DR Pharos; Q8N7B9; Tdark.
DR PRO; PR:Q8N7B9; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8N7B9; protein.
DR Bgee; ENSG00000172421; Expressed in testis and 59 other tissues.
DR ExpressionAtlas; Q8N7B9; baseline and differential.
DR Genevisible; Q8N7B9; HS.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR018247; EF_Hand_1_Ca_BS.
DR InterPro; IPR002048; EF_hand_dom.
DR InterPro; IPR043520; SPT21/EFCAB3.
DR PANTHER; PTHR47500; PTHR47500; 1.
DR Pfam; PF13833; EF-hand_8; 1.
DR SUPFAM; SSF47473; SSF47473; 1.
DR PROSITE; PS00018; EF_HAND_1; 1.
DR PROSITE; PS50222; EF_HAND_2; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Calcium; Metal-binding; Phosphoprotein;
KW Reference proteome; Repeat.
FT CHAIN 1..438
FT /note="EF-hand calcium-binding domain-containing protein 3"
FT /id="PRO_0000253547"
FT DOMAIN 47..82
FT /note="EF-hand 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 83..118
FT /note="EF-hand 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT REGION 405..438
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 405..420
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 96
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 98
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 100
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 102
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 107
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT MOD_RES 279
FT /note="Phosphotyrosine"
FT /evidence="ECO:0000250|UniProtKB:Q66HC0"
FT VAR_SEQ 1
FT /note="M -> MKELMPHLTFNGNGKINVNSIMEGLKKFKPKGMVTLHKLKTANDIKD
FT RVTGHM (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_047183"
FT VARIANT 341
FT /note="G -> R (in dbSNP:rs12602985)"
FT /id="VAR_028377"
FT VARIANT 364
FT /note="M -> I (in dbSNP:rs1056642)"
FT /id="VAR_028378"
FT VARIANT 370
FT /note="S -> A (in dbSNP:rs1056643)"
FT /id="VAR_028379"
SQ SEQUENCE 438 AA; 50147 MW; 5B3FC3028F44B325 CRC64;
MAVSEIKPKL KLNPLTKVPI SHNKRDRDLP GSLQCQLQHK EKKLSASQMA AFQDAYNFFY
KDKTGCIDFH GLMCTVAKLG MNLTKHDVYN ELKCADIDRD GKVNFSDFIK VLTDKNLFLK
AVVPEKETCL DLAGNPGILL FEILSRLLET SALPRKSIIE IVSYFQRKFQ HTGPGMLWSP
YTMGYGKRTL KPDICTPPSS SMAAFANAAR IAIMKEKDLF KFLEELKRCN SGSDSPYSKI
PIFPLFPNVD GVVMGKPFKD MQKLEMLRIK EPLHFFEDYF FHKRDWKTQA ANIKSMDPAS
GYSNNIFTID QMLKKKQTCT VADATAIKQH VKRATDTYNL GIALEHRKEM LNLWQKIRGD
LIGMDSRNES FYDTFSTYTW SWNVCQELLS PKDLRLYDAY VNRNSSHNSR SSSSSDTSEC
YTDSGRKRKR KGLKGFQQ
