EFC11_HUMAN
ID EFC11_HUMAN Reviewed; 163 AA.
AC Q9BUY7; B3KT10; B7Z5G9; G3V5G1; Q86T09; Q86TV7; Q8NDQ1;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=EF-hand calcium-binding domain-containing protein 11;
GN Name=EFCAB11; Synonyms=C14orf143;
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 3 AND 4).
RC TISSUE=B-cell, and Neuroblastoma;
RA Li W.B., Gruber C., Jessee J., Polayes D.;
RT "Full-length cDNA libraries and normalization.";
RL Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5).
RC TISSUE=Brain;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [5]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Eye;
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 Q9BUY7; P15121: AKR1B1; NbExp=3; IntAct=EBI-18688654, EBI-1052491;
CC Q9BUY7; Q9UJ68: MSRA; NbExp=3; IntAct=EBI-18688654, EBI-19157918;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1;
CC IsoId=Q9BUY7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BUY7-2; Sequence=VSP_025100;
CC Name=3;
CC IsoId=Q9BUY7-3; Sequence=VSP_025100, VSP_025101;
CC Name=4;
CC IsoId=Q9BUY7-4; Sequence=VSP_041089, VSP_041090;
CC Name=5;
CC IsoId=Q9BUY7-5; Sequence=VSP_054591;
CC Name=6;
CC IsoId=Q9BUY7-6; Sequence=VSP_055729;
CC -!- MISCELLANEOUS: [Isoform 4]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAD62325.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
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DR EMBL; BX161414; CAD61889.1; -; mRNA.
DR EMBL; BX247991; CAD62325.1; ALT_SEQ; mRNA.
DR EMBL; AK094740; BAG52922.1; -; mRNA.
DR EMBL; AK298930; BAH12905.1; -; mRNA.
DR EMBL; AL832321; CAD38616.1; -; mRNA.
DR EMBL; AL137128; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL137230; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL163011; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471061; EAW81411.1; -; Genomic_DNA.
DR EMBL; BC001787; AAH01787.1; -; mRNA.
DR CCDS; CCDS61522.1; -. [Q9BUY7-6]
DR CCDS; CCDS61523.1; -. [Q9BUY7-2]
DR CCDS; CCDS61524.1; -. [Q9BUY7-3]
DR CCDS; CCDS61525.1; -. [Q9BUY7-5]
DR CCDS; CCDS9887.1; -. [Q9BUY7-1]
DR RefSeq; NP_001271195.1; NM_001284266.1. [Q9BUY7-5]
DR RefSeq; NP_001271196.1; NM_001284267.1. [Q9BUY7-6]
DR RefSeq; NP_001271197.1; NM_001284268.1. [Q9BUY7-3]
DR RefSeq; NP_001271198.1; NM_001284269.1. [Q9BUY7-2]
DR RefSeq; NP_660274.1; NM_145231.3. [Q9BUY7-1]
DR AlphaFoldDB; Q9BUY7; -.
DR SMR; Q9BUY7; -.
DR BioGRID; 124670; 14.
DR IntAct; Q9BUY7; 3.
DR STRING; 9606.ENSP00000326267; -.
DR iPTMnet; Q9BUY7; -.
DR PhosphoSitePlus; Q9BUY7; -.
DR BioMuta; EFCAB11; -.
DR DMDM; 74762709; -.
DR MassIVE; Q9BUY7; -.
DR MaxQB; Q9BUY7; -.
DR PaxDb; Q9BUY7; -.
DR PeptideAtlas; Q9BUY7; -.
DR PRIDE; Q9BUY7; -.
DR ProteomicsDB; 33518; -.
DR ProteomicsDB; 6693; -.
DR ProteomicsDB; 79144; -. [Q9BUY7-1]
DR ProteomicsDB; 79145; -. [Q9BUY7-2]
DR ProteomicsDB; 79146; -. [Q9BUY7-3]
DR Antibodypedia; 65215; 17 antibodies from 10 providers.
DR DNASU; 90141; -.
DR Ensembl; ENST00000316738.12; ENSP00000326267.7; ENSG00000140025.16. [Q9BUY7-1]
DR Ensembl; ENST00000538485.6; ENSP00000438072.2; ENSG00000140025.16. [Q9BUY7-5]
DR Ensembl; ENST00000555872.5; ENSP00000452320.1; ENSG00000140025.16. [Q9BUY7-2]
DR Ensembl; ENST00000556005.1; ENSP00000452143.1; ENSG00000140025.16. [Q9BUY7-3]
DR Ensembl; ENST00000556609.5; ENSP00000452335.1; ENSG00000140025.16. [Q9BUY7-6]
DR Ensembl; ENST00000556639.5; ENSP00000452397.1; ENSG00000140025.16. [Q9BUY7-4]
DR GeneID; 90141; -.
DR KEGG; hsa:90141; -.
DR MANE-Select; ENST00000316738.12; ENSP00000326267.7; NM_145231.4; NP_660274.1.
DR UCSC; uc001xxs.5; human. [Q9BUY7-1]
DR CTD; 90141; -.
DR DisGeNET; 90141; -.
DR GeneCards; EFCAB11; -.
DR HGNC; HGNC:20357; EFCAB11.
DR HPA; ENSG00000140025; Tissue enhanced (testis).
DR neXtProt; NX_Q9BUY7; -.
DR OpenTargets; ENSG00000140025; -.
DR PharmGKB; PA134875422; -.
DR VEuPathDB; HostDB:ENSG00000140025; -.
DR eggNOG; KOG0027; Eukaryota.
DR GeneTree; ENSGT00390000004917; -.
DR HOGENOM; CLU_061288_22_2_1; -.
DR InParanoid; Q9BUY7; -.
DR OMA; VHYRGYL; -.
DR OrthoDB; 1435392at2759; -.
DR PhylomeDB; Q9BUY7; -.
DR TreeFam; TF329255; -.
DR PathwayCommons; Q9BUY7; -.
DR SignaLink; Q9BUY7; -.
DR BioGRID-ORCS; 90141; 11 hits in 1075 CRISPR screens.
DR ChiTaRS; EFCAB11; human.
DR GenomeRNAi; 90141; -.
DR Pharos; Q9BUY7; Tdark.
DR PRO; PR:Q9BUY7; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q9BUY7; protein.
DR Bgee; ENSG00000140025; Expressed in sperm and 178 other tissues.
DR ExpressionAtlas; Q9BUY7; baseline and differential.
DR Genevisible; Q9BUY7; HS.
DR GO; GO:0005509; F:calcium ion binding; IBA:GO_Central.
DR CDD; cd00051; EFh; 1.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR018247; EF_Hand_1_Ca_BS.
DR InterPro; IPR002048; EF_hand_dom.
DR Pfam; PF13499; EF-hand_7; 1.
DR Pfam; PF13833; EF-hand_8; 1.
DR SMART; SM00054; EFh; 3.
DR SUPFAM; SSF47473; SSF47473; 1.
DR PROSITE; PS00018; EF_HAND_1; 1.
DR PROSITE; PS50222; EF_HAND_2; 3.
PE 1: Evidence at protein level;
KW Alternative splicing; Calcium; Metal-binding; Reference proteome; Repeat.
FT CHAIN 1..163
FT /note="EF-hand calcium-binding domain-containing protein
FT 11"
FT /id="PRO_0000286580"
FT DOMAIN 18..53
FT /note="EF-hand 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 91..126
FT /note="EF-hand 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 127..162
FT /note="EF-hand 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 140
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 142
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 144
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 146
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 151
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT VAR_SEQ 1..48
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000305"
FT /id="VSP_055729"
FT VAR_SEQ 1..25
FT /note="MFFSEARARSRTWEASPSEHRKWVE -> M (in isoform 2 and
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005, ECO:0000303|Ref.1"
FT /id="VSP_025100"
FT VAR_SEQ 58..61
FT /note="IEVD -> KWIL (in isoform 4)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_041089"
FT VAR_SEQ 62..163
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_041090"
FT VAR_SEQ 138..163
FT /note="EVDRDSDGHVSFRDFEYALNYGQKEA -> GIFSA (in isoform 3)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_025101"
FT VAR_SEQ 138..162
FT /note="EVDRDSDGHVSFRDFEYALNYGQKE -> GIFS (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054591"
FT VARIANT 15
FT /note="A -> V (in dbSNP:rs35435801)"
FT /id="VAR_032129"
FT VARIANT 31
FT /note="D -> G (in dbSNP:rs34486581)"
FT /id="VAR_032130"
FT VARIANT 45
FT /note="T -> A (in dbSNP:rs34911716)"
FT /id="VAR_032131"
SQ SEQUENCE 163 AA; 19225 MW; 0939E2C3637707C2 CRC64;
MFFSEARARS RTWEASPSEH RKWVEVFKAC DEDHKGYLSR EDFKTAVVML FGYKPSKIEV
DSVMSSINPN TSGILLEGFL NIVRKKKEAQ RYRNEVRHIF TAFDTYYRGF LTLEDFKKAF
RQVAPKLPER TVLEVFREVD RDSDGHVSFR DFEYALNYGQ KEA
