EFC4A_HUMAN
ID EFC4A_HUMAN Reviewed; 399 AA.
AC Q8N4Y2; D5LPR2; Q8NBW8;
DT 03-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 13-JUL-2010, sequence version 3.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=EF-hand calcium-binding domain-containing protein 4A;
DE AltName: Full=Calcium release-activated calcium channel regulator 2B;
DE Short=CRAC channel regulator 2B;
DE AltName: Full=Calcium release-activated channel regulator 2B;
GN Name=CRACR2B; Synonyms=EFCAB4A;
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 [MRNA], AND FUNCTION.
RC TISSUE=T-cell;
RX PubMed=20418871; DOI=10.1038/ncb2045;
RA Srikanth S., Jung H.J., Kim K.D., Souda P., Whitelegge J., Gwack Y.;
RT "A novel EF-hand protein, CRACR2A, is a cytosolic Ca2+ sensor that
RT stabilizes CRAC channels in T cells.";
RL Nat. Cell Biol. 12:436-446(2010).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ILE-248.
RC TISSUE=Placenta;
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 GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANTS GLN-77;
RP GLU-153 AND ILE-248.
RC TISSUE=Blood, and Pancreas;
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-3, AND IDENTIFICATION BY MASS
RP 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).
CC -!- FUNCTION: Plays a role in store-operated Ca(2+) entry (SOCE).
CC {ECO:0000269|PubMed:20418871}.
CC -!- INTERACTION:
CC Q8N4Y2; Q8N8B7: TCEANC; NbExp=3; IntAct=EBI-10267893, EBI-954696;
CC Q8N4Y2-3; Q8N1Q1: CA13; NbExp=3; IntAct=EBI-11982645, EBI-11982647;
CC Q8N4Y2-3; Q9UBH0: IL36RN; NbExp=3; IntAct=EBI-11982645, EBI-465156;
CC Q8N4Y2-3; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-11982645, EBI-739832;
CC Q8N4Y2-3; Q8IVT4: MGC50722; NbExp=3; IntAct=EBI-11982645, EBI-14086479;
CC Q8N4Y2-3; P49720: PSMB3; NbExp=3; IntAct=EBI-11982645, EBI-603340;
CC Q8N4Y2-3; Q13671: RIN1; NbExp=3; IntAct=EBI-11982645, EBI-366017;
CC Q8N4Y2-3; Q8N8B7-2: TCEANC; NbExp=3; IntAct=EBI-11982645, EBI-11955057;
CC Q8N4Y2-3; Q3SY00: TSGA10IP; NbExp=3; IntAct=EBI-11982645, EBI-10241197;
CC Q8N4Y2-3; Q9NRE2: TSHZ2; NbExp=3; IntAct=EBI-11982645, EBI-10687282;
CC Q8N4Y2-3; Q99757: TXN2; NbExp=3; IntAct=EBI-11982645, EBI-2932492;
CC Q8N4Y2-3; O75604: USP2; NbExp=3; IntAct=EBI-11982645, EBI-743272;
CC Q8N4Y2-3; P24278: ZBTB25; NbExp=3; IntAct=EBI-11982645, EBI-739899;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N4Y2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N4Y2-2; Sequence=VSP_024290, VSP_024291, VSP_024292,
CC VSP_024293;
CC Name=3;
CC IsoId=Q8N4Y2-3; Sequence=VSP_039545;
CC -!- SIMILARITY: Belongs to the EFCAB4 family. {ECO:0000305}.
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DR EMBL; GU952799; ADD96763.1; -; mRNA.
DR EMBL; AK075180; BAC11455.1; -; mRNA.
DR EMBL; AP006621; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC033196; AAH33196.1; -; mRNA.
DR EMBL; BC073821; AAH73821.1; -; mRNA.
DR CCDS; CCDS41588.1; -. [Q8N4Y2-3]
DR CCDS; CCDS65995.1; -. [Q8N4Y2-1]
DR RefSeq; NP_001273535.1; NM_001286606.1. [Q8N4Y2-1]
DR RefSeq; NP_775855.3; NM_173584.4. [Q8N4Y2-3]
DR RefSeq; XP_016873088.1; XM_017017599.1. [Q8N4Y2-3]
DR AlphaFoldDB; Q8N4Y2; -.
DR SMR; Q8N4Y2; -.
DR BioGRID; 129503; 62.
DR IntAct; Q8N4Y2; 15.
DR STRING; 9606.ENSP00000435299; -.
DR iPTMnet; Q8N4Y2; -.
DR PhosphoSitePlus; Q8N4Y2; -.
DR BioMuta; CRACR2B; -.
DR DMDM; 300669695; -.
DR jPOST; Q8N4Y2; -.
DR MassIVE; Q8N4Y2; -.
DR MaxQB; Q8N4Y2; -.
DR PaxDb; Q8N4Y2; -.
DR PeptideAtlas; Q8N4Y2; -.
DR PRIDE; Q8N4Y2; -.
DR ProteomicsDB; 71990; -. [Q8N4Y2-1]
DR ProteomicsDB; 71991; -. [Q8N4Y2-2]
DR ProteomicsDB; 71992; -. [Q8N4Y2-3]
DR Antibodypedia; 42026; 55 antibodies from 21 providers.
DR DNASU; 283229; -.
DR Ensembl; ENST00000450448.5; ENSP00000409256.1; ENSG00000177685.17. [Q8N4Y2-3]
DR Ensembl; ENST00000525077.2; ENSP00000435299.1; ENSG00000177685.17. [Q8N4Y2-1]
DR Ensembl; ENST00000528542.6; ENSP00000432334.1; ENSG00000177685.17. [Q8N4Y2-3]
DR GeneID; 283229; -.
DR KEGG; hsa:283229; -.
DR MANE-Select; ENST00000525077.2; ENSP00000435299.1; NM_001286606.2; NP_001273535.1.
DR UCSC; uc001lrv.3; human. [Q8N4Y2-1]
DR CTD; 283229; -.
DR DisGeNET; 283229; -.
DR GeneCards; CRACR2B; -.
DR HGNC; HGNC:28703; CRACR2B.
DR HPA; ENSG00000177685; Tissue enhanced (pancreas, salivary gland).
DR MIM; 614177; gene.
DR neXtProt; NX_Q8N4Y2; -.
DR OpenTargets; ENSG00000177685; -.
DR PharmGKB; PA144596437; -.
DR VEuPathDB; HostDB:ENSG00000177685; -.
DR eggNOG; ENOG502QRXK; Eukaryota.
DR GeneTree; ENSGT00440000033504; -.
DR HOGENOM; CLU_047014_0_0_1; -.
DR InParanoid; Q8N4Y2; -.
DR OMA; GRREQTQ; -.
DR OrthoDB; 679137at2759; -.
DR PhylomeDB; Q8N4Y2; -.
DR TreeFam; TF329556; -.
DR PathwayCommons; Q8N4Y2; -.
DR SignaLink; Q8N4Y2; -.
DR BioGRID-ORCS; 283229; 14 hits in 1077 CRISPR screens.
DR ChiTaRS; CRACR2B; human.
DR GenomeRNAi; 283229; -.
DR Pharos; Q8N4Y2; Tbio.
DR PRO; PR:Q8N4Y2; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8N4Y2; protein.
DR Bgee; ENSG00000177685; Expressed in body of pancreas and 126 other tissues.
DR ExpressionAtlas; Q8N4Y2; baseline and differential.
DR Genevisible; Q8N4Y2; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR GO; GO:2001256; P:regulation of store-operated calcium entry; IEA:Ensembl.
DR GO; GO:0002115; P:store-operated calcium entry; IMP:UniProtKB.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR002048; EF_hand_dom.
DR SUPFAM; SSF47473; SSF47473; 1.
DR PROSITE; PS50222; EF_HAND_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Phosphoprotein; Reference proteome;
KW Repeat.
FT CHAIN 1..399
FT /note="EF-hand calcium-binding domain-containing protein
FT 4A"
FT /id="PRO_0000283044"
FT DOMAIN 33..61
FT /note="EF-hand 1"
FT /evidence="ECO:0000305"
FT DOMAIN 67..95
FT /note="EF-hand 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT REGION 1..25
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 216..239
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 181..358
FT /evidence="ECO:0000255"
FT MOD_RES 3
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..89
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024290"
FT VAR_SEQ 90..92
FT /note="LGL -> MPA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024291"
FT VAR_SEQ 153
FT /note="K -> DSRPPSR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024292"
FT VAR_SEQ 263..399
FT /note="LEQQLHAQAAEHLEAQAQNSQLWRAHEALRTQLEGAQEQIRRLESEARGRQE
FT QTQRDVVAVSRNMQKEKVSLLRQLELLRELNTRLRDDRDACEARRAGSSCRKALTTARL
FT PGPTCCCCCCWARPPRRGSGHLPSAR -> VSTRPLPCPHGRPCTLPLCLSVPGLSGAW
FT GTRSTPGKRGRSSPVSILPPSS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024293"
FT VAR_SEQ 263..399
FT /note="LEQQLHAQAAEHLEAQAQNSQLWRAHEALRTQLEGAQEQIRRLESEARGRQE
FT QTQRDVVAVSRNMQKEKVSLLRQLELLRELNTRLRDDRDACEARRAGSSCRKALTTARL
FT PGPTCCCCCCWARPPRRGSGHLPSAR -> RRGRRLQEHAERESQPATATGAAQGAEYT
FT AAG (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_039545"
FT VARIANT 77
FT /note="R -> Q (in dbSNP:rs7126805)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031479"
FT VARIANT 153
FT /note="K -> E (in dbSNP:rs28558789)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031480"
FT VARIANT 173
FT /note="G -> S (in dbSNP:rs35567200)"
FT /id="VAR_031481"
FT VARIANT 248
FT /note="S -> I (in dbSNP:rs4075289)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_031482"
SQ SEQUENCE 399 AA; 44956 MW; 116E54FD8B3F98CA CRC64;
MASPGKPGAD EAQEEEGELE GGSAGPRAAI LEQAEELFLL CDKEAKGFIT KHDLQGLQSD
LPLTPEQLEA VFESLDRAHT GFLTAREFCL GLGMFVGVAS AQGANPCRTP EETFESGGLD
VQGTAGSLDE EEEEEERFHT VLEQLGVAPV LGKQRAVRTL WARLQRERPE LLGSFEDVLI
RASACLEEAA RERDGLEQAL RRRESEHERE VRALYEETEQ LREQSRRPPS QNFARGERRS
RLELELQSRE QDLERAGLRQ RELEQQLHAQ AAEHLEAQAQ NSQLWRAHEA LRTQLEGAQE
QIRRLESEAR GRQEQTQRDV VAVSRNMQKE KVSLLRQLEL LRELNTRLRD DRDACEARRA
GSSCRKALTT ARLPGPTCCC CCCWARPPRR GSGHLPSAR
