ID   EFC12_HUMAN             Reviewed;         572 AA.
AC   Q6NXP0; Q69YX4;
DT   30-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT   05-JUL-2004, sequence version 1.
DT   24-JAN-2024, entry version 147.
DE   RecName: Full=EF-hand calcium-binding domain-containing protein 12;
GN   Name=EFCAB12; Synonyms=C3orf25;
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=Brain;
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   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 91-572.
RC   TISSUE=Testis;
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).
CC   -!- INTERACTION:
CC       Q6NXP0; Q13643: FHL3; NbExp=3; IntAct=EBI-10251535, EBI-741101;
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DR   EMBL; BC066975; AAH66975.1; -; mRNA.
DR   EMBL; AL133011; CAH10712.1; -; mRNA.
DR   CCDS; CCDS54638.1; -.
DR   RefSeq; NP_997190.1; NM_207307.2.
DR   AlphaFoldDB; Q6NXP0; -.
DR   SMR; Q6NXP0; -.
DR   BioGRID; 124687; 4.
DR   IntAct; Q6NXP0; 2.
DR   STRING; 9606.ENSP00000420854; -.
DR   iPTMnet; Q6NXP0; -.
DR   PhosphoSitePlus; Q6NXP0; -.
DR   BioMuta; EFCAB12; -.
DR   DMDM; 74736979; -.
DR   MassIVE; Q6NXP0; -.
DR   PaxDb; 9606-ENSP00000420854; -.
DR   PeptideAtlas; Q6NXP0; -.
DR   ProteomicsDB; 66758; -.
DR   Antibodypedia; 49952; 76 antibodies from 11 providers.
DR   DNASU; 90288; -.
DR   Ensembl; ENST00000505956.6; ENSP00000420854.1; ENSG00000172771.13.
DR   GeneID; 90288; -.
DR   KEGG; hsa:90288; -.
DR   MANE-Select; ENST00000505956.6; ENSP00000420854.1; NM_207307.3; NP_997190.1.
DR   UCSC; uc003emg.3; human.
DR   AGR; HGNC:28061; -.
DR   CTD; 90288; -.
DR   DisGeNET; 90288; -.
DR   GeneCards; EFCAB12; -.
DR   HGNC; HGNC:28061; EFCAB12.
DR   HPA; ENSG00000172771; Tissue enhanced (choroid plexus, fallopian tube).
DR   neXtProt; NX_Q6NXP0; -.
DR   OpenTargets; ENSG00000172771; -.
DR   VEuPathDB; HostDB:ENSG00000172771; -.
DR   eggNOG; ENOG502QSZS; Eukaryota.
DR   GeneTree; ENSGT00390000014874; -.
DR   HOGENOM; CLU_034466_1_0_1; -.
DR   InParanoid; Q6NXP0; -.
DR   OMA; GHCFKQF; -.
DR   OrthoDB; 2910415at2759; -.
DR   PhylomeDB; Q6NXP0; -.
DR   TreeFam; TF336894; -.
DR   PathwayCommons; Q6NXP0; -.
DR   SignaLink; Q6NXP0; -.
DR   BioGRID-ORCS; 90288; 7 hits in 1153 CRISPR screens.
DR   GenomeRNAi; 90288; -.
DR   Pharos; Q6NXP0; Tdark.
DR   PRO; PR:Q6NXP0; -.
DR   Proteomes; UP000005640; Chromosome 3.
DR   RNAct; Q6NXP0; Protein.
DR   Bgee; ENSG00000172771; Expressed in right uterine tube and 108 other cell types or tissues.
DR   ExpressionAtlas; Q6NXP0; baseline and differential.
DR   GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR   InterPro; IPR011992; EF-hand-dom_pair.
DR   InterPro; IPR002048; EF_hand_dom.
DR   InterPro; IPR042847; EFC12.
DR   PANTHER; PTHR47225; EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 12; 1.
DR   PANTHER; PTHR47225:SF1; EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 12; 1.
DR   SUPFAM; SSF47473; EF-hand; 1.
DR   PROSITE; PS50222; EF_HAND_2; 1.
DR   Genevisible; Q6NXP0; HS.
PE   1: Evidence at protein level;
KW   Calcium; Metal-binding; Reference proteome.
FT   CHAIN           1..572
FT                   /note="EF-hand calcium-binding domain-containing protein
FT                   12"
FT                   /id="PRO_0000238660"
FT   DOMAIN          196..231
FT                   /note="EF-hand"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT   REGION          62..85
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          146..169
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        147..162
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   BINDING         212
FT                   /ligand="Ca(2+)"
FT                   /ligand_id="ChEBI:CHEBI:29108"
FT                   /evidence="ECO:0000305"
FT   VARIANT         36
FT                   /note="P -> L (in dbSNP:rs58932597)"
FT                   /id="VAR_061089"
FT   VARIANT         66
FT                   /note="E -> G (in dbSNP:rs3774787)"
FT                   /id="VAR_033697"
FT   VARIANT         215
FT                   /note="R -> G (in dbSNP:rs6790768)"
FT                   /id="VAR_048667"
FT   VARIANT         280
FT                   /note="H -> R (in dbSNP:rs9836111)"
FT                   /id="VAR_061090"
FT   VARIANT         541
FT                   /note="P -> S (in dbSNP:rs12637267)"
FT                   /id="VAR_048668"
SQ   SEQUENCE   572 AA;  66551 MW;  7F2695D741E83A17 CRC64;
     MDDDYEAYHS LFLSLLGLCP SKTPINENAP VFDPEPVIAH CFKQFQQKDF RLPQTRRRII
     MVPRKEDQTP LNPASQPQAP PKPIPSFKVL EARDIQEQPE DRKTWLSQRS KLRQELESFG
     DVKRWLENKP SITPSEAKVL HMIHEEQSAQ PNASQATTRT TRKKAPRLSR LSRQMVPQLQ
     LPEPPALSVM YSYLHSRKIK ILEIFHKVGQ GENQRITREE FIAAVKAVGV PLKNQEVEDI
     VIYLSSLGKH NTITMDILAN TYKQWSMAQQ RSSLATAREH YILAKHRDSL KGPLKKQEVD
     SAPQLPKVDL LTVPAVDTQM ETRPMTLEEM EEVGKRYRER QRQHKLTIPS IQYTEQCHLV
     RCGNRHFDEH CLPSTIHGDM RELIDSARRH NFLVYLQCWK LCKSYGLPLT EDILMKALLY
     PGDKIIFQMD KVCPIRQPGG YYSDWKVFSP NLALLRSQGP GKSKRTDKKT PKKSKKMRFK
     EFEEFTRKLK VKRSSGLQQT HPNSFWPGHL LDKLQLYLPT VATDRSLALF SCVQHQPHVY
     PATYHPDHWW PLRNKNYMTH AHYDAAKVYY IN
//