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   24-JAN-2024, entry version 123.
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; 8.
DR   IntAct; A4FU69; 3.
DR   MINT; A4FU69; -.
DR   STRING; 9606.ENSP00000378312; -.
DR   GlyGen; A4FU69; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; A4FU69; -.
DR   PhosphoSitePlus; A4FU69; -.
DR   SwissPalm; A4FU69; -.
DR   BioMuta; EFCAB5; -.
DR   EPD; A4FU69; -.
DR   MassIVE; A4FU69; -.
DR   MaxQB; A4FU69; -.
DR   PaxDb; 9606-ENSP00000378312; -.
DR   PeptideAtlas; 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; 51 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   AGR; HGNC:24801; -.
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; 5397692at2759; -.
DR   PhylomeDB; A4FU69; -.
DR   TreeFam; TF329659; -.
DR   PathwayCommons; A4FU69; -.
DR   SignaLink; A4FU69; -.
DR   BioGRID-ORCS; 374786; 12 hits in 1149 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 97 other cell types or tissues.
DR   ExpressionAtlas; A4FU69; baseline and differential.
DR   GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR   CDD; cd22968; DD_EFCAB5; 1.
DR   Gene3D; 3.30.450.40; -; 1.
DR   Gene3D; 1.10.238.10; EF-hand; 1.
DR   InterPro; IPR018247; EF_Hand_1_Ca_BS.
DR   InterPro; IPR002048; EF_hand_dom.
DR   InterPro; IPR029016; GAF-like_dom_sf.
DR   PANTHER; PTHR46788; EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 5; 1.
DR   PANTHER; PTHR46788:SF1; EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 5; 1.
DR   SUPFAM; SSF55781; GAF domain-like; 1.
DR   PROSITE; PS00018; EF_HAND_1; 1.
DR   PROSITE; PS50222; EF_HAND_2; 1.
DR   Genevisible; A4FU69; HS.
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
//