EFCB5_HUMAN
ID EFCB5_HUMAN Reviewed; 1503 AA.
AC A4FU69; B2RPN0; B4DS75; B4DZR5; F5GYL2; Q0VD68; Q6ZRM6; Q8NDG9;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 31-OCT-2012, sequence version 3.
DT 03-AUG-2022, entry version 116.
DE RecName: Full=EF-hand calcium-binding domain-containing protein 5;
GN Name=EFCAB5;
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] (ISOFORMS 5 AND 6), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 195-1503 (ISOFORM 3), AND VARIANTS VAL-237
RP AND LYS-278.
RC TISSUE=Brain, and 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 MRNA] (ISOFORM 2), AND VARIANT LYS-278.
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 203-1503 (ISOFORM 4), AND VARIANT LYS-278.
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).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-77, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1;
CC IsoId=A4FU69-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A4FU69-2; Sequence=VSP_030734, VSP_030735;
CC Name=3;
CC IsoId=A4FU69-3; Sequence=VSP_030732;
CC Name=4;
CC IsoId=A4FU69-4; Sequence=VSP_030733;
CC Name=5;
CC IsoId=A4FU69-5; Sequence=VSP_047184, VSP_047185, VSP_047186;
CC Name=6;
CC IsoId=A4FU69-6; Sequence=VSP_055510, VSP_047185, VSP_047186;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC87284.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK128126; BAC87284.1; ALT_INIT; mRNA.
DR EMBL; AK299608; BAG61537.1; -; mRNA.
DR EMBL; AK303060; BAG64177.1; -; mRNA.
DR EMBL; BX648689; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AL833911; CAD38767.1; -; mRNA.
DR EMBL; AC104982; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC104984; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC104996; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC110608; AAI10609.1; -; mRNA.
DR EMBL; BC110609; AAI10610.1; -; mRNA.
DR EMBL; BC119807; AAI19808.1; -; mRNA.
DR EMBL; BC137519; AAI37520.1; -; mRNA.
DR CCDS; CCDS11254.2; -. [A4FU69-1]
DR CCDS; CCDS54103.1; -. [A4FU69-5]
DR RefSeq; NP_001138525.1; NM_001145053.1. [A4FU69-5]
DR RefSeq; NP_940931.2; NM_198529.3. [A4FU69-1]
DR AlphaFoldDB; A4FU69; -.
DR BioGRID; 131921; 6.
DR IntAct; A4FU69; 3.
DR MINT; A4FU69; -.
DR STRING; 9606.ENSP00000378312; -.
DR iPTMnet; A4FU69; -.
DR PhosphoSitePlus; A4FU69; -.
DR BioMuta; EFCAB5; -.
DR EPD; A4FU69; -.
DR MassIVE; A4FU69; -.
DR MaxQB; A4FU69; -.
DR PaxDb; A4FU69; -.
DR PeptideAtlas; A4FU69; -.
DR PRIDE; A4FU69; -.
DR ProteomicsDB; 24772; -.
DR ProteomicsDB; 5619; -.
DR ProteomicsDB; 669; -. [A4FU69-1]
DR ProteomicsDB; 670; -. [A4FU69-2]
DR ProteomicsDB; 671; -. [A4FU69-3]
DR ProteomicsDB; 672; -. [A4FU69-4]
DR Antibodypedia; 15071; 36 antibodies from 14 providers.
DR DNASU; 374786; -.
DR Ensembl; ENST00000394835.8; ENSP00000378312.3; ENSG00000176927.16. [A4FU69-1]
DR Ensembl; ENST00000440741.7; ENSP00000393095.2; ENSG00000176927.16. [A4FU69-2]
DR Ensembl; ENST00000536908.6; ENSP00000440619.2; ENSG00000176927.16. [A4FU69-5]
DR GeneID; 374786; -.
DR KEGG; hsa:374786; -.
DR MANE-Select; ENST00000394835.8; ENSP00000378312.3; NM_198529.4; NP_940931.3.
DR UCSC; uc002het.3; human. [A4FU69-1]
DR CTD; 374786; -.
DR DisGeNET; 374786; -.
DR GeneCards; EFCAB5; -.
DR HGNC; HGNC:24801; EFCAB5.
DR HPA; ENSG00000176927; Tissue enriched (testis).
DR neXtProt; NX_A4FU69; -.
DR OpenTargets; ENSG00000176927; -.
DR PharmGKB; PA145008457; -.
DR VEuPathDB; HostDB:ENSG00000176927; -.
DR eggNOG; ENOG502R5M0; Eukaryota.
DR GeneTree; ENSGT00940000154049; -.
DR HOGENOM; CLU_006376_0_0_1; -.
DR InParanoid; A4FU69; -.
DR OMA; PKGMIPM; -.
DR OrthoDB; 1482025at2759; -.
DR PhylomeDB; A4FU69; -.
DR TreeFam; TF329659; -.
DR PathwayCommons; A4FU69; -.
DR SignaLink; A4FU69; -.
DR BioGRID-ORCS; 374786; 12 hits in 1063 CRISPR screens.
DR ChiTaRS; EFCAB5; human.
DR GenomeRNAi; 374786; -.
DR Pharos; A4FU69; Tdark.
DR PRO; PR:A4FU69; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; A4FU69; protein.
DR Bgee; ENSG00000176927; Expressed in left testis and 96 other tissues.
DR ExpressionAtlas; A4FU69; baseline and differential.
DR Genevisible; A4FU69; HS.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR Gene3D; 3.30.450.40; -; 1.
DR InterPro; IPR018247; EF_Hand_1_Ca_BS.
DR InterPro; IPR002048; EF_hand_dom.
DR InterPro; IPR029016; GAF-like_dom_sf.
DR PROSITE; PS00018; EF_HAND_1; 1.
DR PROSITE; PS50222; EF_HAND_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Calcium; Metal-binding; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..1503
FT /note="EF-hand calcium-binding domain-containing protein 5"
FT /id="PRO_0000315836"
FT DOMAIN 869..904
FT /note="EF-hand"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT REGION 1..23
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 477..518
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 544..656
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 730..750
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 546..561
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 562..577
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 589..603
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 604..625
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 730..749
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 882
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 884
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 886
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 893
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT MOD_RES 77
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT VAR_SEQ 1..343
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055510"
FT VAR_SEQ 1..56
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_047184"
FT VAR_SEQ 789..912
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_030732"
FT VAR_SEQ 861..912
FT /note="FSQNAFQVRQRLLLEAIFQKWDSDGSGFLDLKEVDELLYTYKEGMEKESMKK
FT -> VSLCRQAGVQWRNCSSLQPPTPGLKRSSHHRLLSNWDYRERRKFFPLETKFP (in
FT isoform 5 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_047185"
FT VAR_SEQ 913..1503
FT /note="Missing (in isoform 5 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_047186"
FT VAR_SEQ 913..1440
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_030733"
FT VAR_SEQ 913..926
FT /note="AKLHIQFPKPHPGH -> GLTLSPGWSAVAQL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_030734"
FT VAR_SEQ 927..1503
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_030735"
FT VARIANT 237
FT /note="L -> V (in dbSNP:rs9897794)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_038343"
FT VARIANT 278
FT /note="I -> K (in dbSNP:rs4795524)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005"
FT /id="VAR_038344"
FT VARIANT 561
FT /note="R -> S (in dbSNP:rs9900546)"
FT /id="VAR_038345"
FT VARIANT 1145
FT /note="A -> D (in dbSNP:rs9894896)"
FT /id="VAR_048644"
FT VARIANT 1252
FT /note="V -> A (in dbSNP:rs4499292)"
FT /id="VAR_048645"
FT VARIANT 1274
FT /note="R -> T (in dbSNP:rs35724168)"
FT /id="VAR_048646"
FT CONFLICT 324
FT /note="L -> P (in Ref. 1; BX648689)"
FT /evidence="ECO:0000305"
FT CONFLICT 374
FT /note="D -> E (in Ref. 1; BX648689)"
FT /evidence="ECO:0000305"
FT CONFLICT 429
FT /note="R -> Q (in Ref. 4; BAC87284)"
FT /evidence="ECO:0000305"
FT CONFLICT 962
FT /note="M -> I (in Ref. 4; BAC87284)"
FT /evidence="ECO:0000305"
FT CONFLICT 1386
FT /note="V -> G (in Ref. 1; CAD38767)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1503 AA; 173404 MW; 907EED07E7C17EB7 CRC64;
MNESASQEEL RPAQENRKED KERKWNLTEV KELHETLQSV PDVPVKEDTN SVVEKAMDEI
KSQELNLEGQ RKISPGSIKD SKTEASGNIA IRKSAKVIFA LDETELKSKP EHTWKKNLFE
RMEARAQAMQ QKIIDKENLK KELEKKAEKK LPRDNLAKEW FNTDSMTLNN TAYLLDKLLP
TLVPGVENML TQVEKKKVLT EADTPSKFDP INYLGEYLIR NNPNYIKDPG MSGYQRLMKE
VTEDLKIYVP DTICNRVSKM KENVKQNRKQ RESIDKIIVK VANTRKQALQ EQFDEWILDP
KGMIPKSVIQ NVLQEFFQNP DFKLGSHCKQ LDITDSTEPR LNKMEFTEYI SSHIKDLKSE
MFEELLKHLC HSADEFREVI KADMRRQMFA ELFLHCDHGK VGFLDRQRTL ALLELFYDHS
SQMLRSLLRN PRQWPFIEFE EINLTELWGD MDNQKHIYEG FDKVLLEMNT LLSANHASKT
QSKLLESPDQ PKLNEQRTST PSPNPPEQQR GVTAEQGPQR ISIEEQQQGK KPTAEQELYI
ESVIEPGTHT ESTLEQGSSR RLLTEQETHR ESTTEQGQHK GSIEGQGPRR VSVSEQGSSR
ESVAEQGSRR ESIAEQDRHK GSVAEQGSRR MSAAEQGSLR ESVIEEPYQK SEQGPYGEII
SEEQEDIGST SQSRKDSILK STKYGEPITS EYIEVPLQEK RSWEQTYEEE IFLSSELQEE
VPTLSRKDHF PETTKKEVQK DKPCEPKSQK IEGKSWSGEF FTCNWKMKYV TFEDEEQANL
IYGNSRFTDL HSIIRNIQSC KEVKGRTAFN GVSFNLLQFV QLLETFVGED APLSVSETLT
SFFKEGYVET EQEKMNALEQ FSQNAFQVRQ RLLLEAIFQK WDSDGSGFLD LKEVDELLYT
YKEGMEKESM KKAKLHIQFP KPHPGHEVRL SSKQFQNYIE LVVSELRGNE DQVLESVVEF
LMNALERSHI ESLRNSARRK WLHQIQCAAE TSGVSLEPVY SETFKALMQD AEAHGNKKIS
AHISLLEENL LLPEKGNVLL RNVACTLDDA QFVLNRVLYR DMKGISFTVV DEGKPIHVPQ
VQYHGNIFFW NQSRNKHDYN GSFLALPLQD AYMRIFGVLA VDTLRDPHEI NIFLPHEIRF
YQGVANVFST AYHYVHSREH ILHIVITGIG WLYDVTSSIT SITTYFVEPS PAQDSDYVLR
NMMVTGQLGL TEIHKNPPTI HRKSCIFRDF LFKCTDSSEV VLASACGETH IVVPLRERTG
EALGVLDFNI GQNRMLLCQE YKDLQKMMKV VQVACYEILG EFSGEIKKKY ILEIENVREV
QRAGILFFRI MLLELQESIQ LLNSMEFVSL LLYDHTLVTE PNSPQDSKSM ELEANVKLVR
DILKAVILFF HPELEFSSDF GSWDKCKFYV NKYLVNNICA FDPTAKHVEV NVQLIDEYIR
DHSRTEVWKF GNVVIEHLYH WIHICSALMK ITKQLNSGIT PPLPSKTDNY MYAKMPGEGL
QEK
