EFC14_HUMAN
ID EFC14_HUMAN Reviewed; 495 AA.
AC O75071; D3DQ23; Q5SXB8;
DT 10-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1998, sequence version 1.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=EF-hand calcium-binding domain-containing protein 14;
GN Name=EFCAB14; Synonyms=KIAA0494;
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=9455484; DOI=10.1093/dnares/4.5.345;
RA Seki N., Ohira M., Nagase T., Ishikawa K., Miyajima N., Nakajima D.,
RA Nomura N., Ohara O.;
RT "Characterization of cDNA clones in size-fractionated cDNA libraries from
RT human brain.";
RL DNA Res. 4:345-349(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
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-17, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [6]
RP VARIANT SER-239.
RX PubMed=25787250; DOI=10.1073/pnas.1503696112;
RA Cromer M.K., Choi M., Nelson-Williams C., Fonseca A.L., Kunstman J.W.,
RA Korah R.M., Overton J.D., Mane S., Kenney B., Malchoff C.D., Stalberg P.,
RA Akerstroem G., Westin G., Hellman P., Carling T., Bjoerklund P.,
RA Lifton R.P.;
RT "Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in
RT insulin-producing adenomas.";
RL Proc. Natl. Acad. Sci. U.S.A. 112:4062-4067(2015).
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA32328.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB007963; BAA32328.2; ALT_INIT; mRNA.
DR EMBL; AL593856; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471059; EAX06893.1; -; Genomic_DNA.
DR EMBL; CH471059; EAX06894.1; -; Genomic_DNA.
DR EMBL; BC002525; AAH02525.1; -; mRNA.
DR CCDS; CCDS30706.1; -.
DR RefSeq; NP_055589.1; NM_014774.2.
DR AlphaFoldDB; O75071; -.
DR SMR; O75071; -.
DR BioGRID; 115152; 9.
DR IntAct; O75071; 6.
DR STRING; 9606.ENSP00000361001; -.
DR CarbonylDB; O75071; -.
DR GlyConnect; 1198; 1 N-Linked glycan (1 site).
DR GlyGen; O75071; 5 sites, 1 N-linked glycan (1 site).
DR iPTMnet; O75071; -.
DR PhosphoSitePlus; O75071; -.
DR SwissPalm; O75071; -.
DR BioMuta; EFCAB14; -.
DR EPD; O75071; -.
DR jPOST; O75071; -.
DR MassIVE; O75071; -.
DR MaxQB; O75071; -.
DR PaxDb; O75071; -.
DR PeptideAtlas; O75071; -.
DR PRIDE; O75071; -.
DR ProteomicsDB; 49737; -.
DR Antibodypedia; 2537; 107 antibodies from 22 providers.
DR DNASU; 9813; -.
DR Ensembl; ENST00000371933.8; ENSP00000361001.3; ENSG00000159658.15.
DR GeneID; 9813; -.
DR KEGG; hsa:9813; -.
DR MANE-Select; ENST00000371933.8; ENSP00000361001.3; NM_014774.3; NP_055589.1.
DR UCSC; uc001cqk.4; human.
DR CTD; 9813; -.
DR DisGeNET; 9813; -.
DR GeneCards; EFCAB14; -.
DR HGNC; HGNC:29051; EFCAB14.
DR HPA; ENSG00000159658; Tissue enhanced (parathyroid).
DR MIM; 619559; gene.
DR neXtProt; NX_O75071; -.
DR OpenTargets; ENSG00000159658; -.
DR PharmGKB; PA142671630; -.
DR VEuPathDB; HostDB:ENSG00000159658; -.
DR eggNOG; ENOG502QSQB; Eukaryota.
DR GeneTree; ENSGT00390000011196; -.
DR HOGENOM; CLU_043044_0_0_1; -.
DR InParanoid; O75071; -.
DR OMA; QSDMNRH; -.
DR OrthoDB; 981622at2759; -.
DR PhylomeDB; O75071; -.
DR TreeFam; TF331353; -.
DR PathwayCommons; O75071; -.
DR SignaLink; O75071; -.
DR BioGRID-ORCS; 9813; 9 hits in 1077 CRISPR screens.
DR ChiTaRS; EFCAB14; human.
DR GenomeRNAi; 9813; -.
DR Pharos; O75071; Tdark.
DR PRO; PR:O75071; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; O75071; protein.
DR Bgee; ENSG00000159658; Expressed in cardia of stomach and 209 other tissues.
DR ExpressionAtlas; O75071; baseline and differential.
DR Genevisible; O75071; HS.
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; IPR042352; EFCAB14.
DR PANTHER; PTHR15717; PTHR15717; 1.
DR SUPFAM; SSF47473; SSF47473; 1.
DR PROSITE; PS50222; EF_HAND_2; 2.
PE 1: Evidence at protein level;
KW Calcium; Metal-binding; Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..495
FT /note="EF-hand calcium-binding domain-containing protein
FT 14"
FT /id="PRO_0000073882"
FT DOMAIN 434..463
FT /note="EF-hand 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 464..495
FT /note="EF-hand 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT REGION 1..50
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 381..404
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 477
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000305"
FT BINDING 479
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000305"
FT BINDING 481
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000305"
FT BINDING 483
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000305"
FT BINDING 488
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000305"
FT MOD_RES 17
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VARIANT 239
FT /note="P -> S"
FT /evidence="ECO:0000269|PubMed:25787250"
FT /id="VAR_074176"
FT VARIANT 337
FT /note="L -> P (in dbSNP:rs6665021)"
FT /id="VAR_048669"
SQ SEQUENCE 495 AA; 55031 MW; 81170A5169D4B46F CRC64;
MKKRKELNAL IGLAGDSRRK KPKKGPSSHR LLRTEPPDSD SESSSEEEEE FGVVGNRSRF
AKGDYLRCCK ICYPLCGFVI LAACVVACVG LVWMQVALKE DLDALKEKFR TMESNQKSSF
QEIPKLNEEL LSKQKQLEKI ESGEMGLNKV WINITEMNKQ ISLLTSAVNH LKANVKSAAD
LISLPTTVEG LQKSVASIGN TLNSVHLAVE ALQKTVDEHK KTMELLQSDM NQHFLKETPG
SNQIIPSPSA TSELDNKTHS ENLKQDILYL HNSLEEVNSA LVGYQRQNDL KLEGMNETVS
NLTQRVNLIE SDVVAMSKVE KKANLSFSMM GDRSATLKRQ SLDQVTNRTD TVKIQSIKKE
DSSNSQVSKL REKLQLISAL TNKPESNRPP ETADEEQVES FTSKPSALPK FSQFLGDPVE
KAAQLRPISL PGVSSTEDLQ DLFRKTGQDV DGKLTYQEIW TSLGSAMPEP ESLRAFDSDG
DGRYSFLELR VALGI
