DRC8_HUMAN
ID DRC8_HUMAN Reviewed; 269 AA.
AC Q5VUJ9; B4DZE9; Q59G23; Q9BS36;
DT 17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 07-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Dynein regulatory complex protein 8 {ECO:0000250|UniProtKB:A8J3A0};
DE AltName: Full=EF-hand calcium-binding domain-containing protein 2;
GN Name=EFCAB2; Synonyms=DRC8 {ECO:0000250|UniProtKB:A8J3A0};
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 1 AND 3).
RC TISSUE=Amygdala, 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 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 MRNA] (ISOFORM 2).
RC TISSUE=Urinary bladder;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 105-269 (ISOFORM 1).
RC TISSUE=Brain;
RA Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.,
RA Ohara O., Nagase T., Kikuno R.F.;
RL Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Component of the nexin-dynein regulatory complex (N-DRC), a
CC key regulator of ciliary/flagellar motility which maintains the
CC alignment and integrity of the distal axoneme and regulates microtubule
CC sliding in motile axonemes. {ECO:0000250|UniProtKB:A8J3A0}.
CC -!- SUBUNIT: Component of the nexin-dynein regulatory complex (N-DRC).
CC {ECO:0000250|UniProtKB:A8J3A0}.
CC -!- INTERACTION:
CC Q5VUJ9-2; Q9BQD7: ANTKMT; NbExp=3; IntAct=EBI-13317131, EBI-713602;
CC Q5VUJ9-2; P52815: MRPL12; NbExp=3; IntAct=EBI-13317131, EBI-358272;
CC Q5VUJ9-2; O95988: TCL1B; NbExp=3; IntAct=EBI-13317131, EBI-727338;
CC Q5VUJ9-2; P19237: TNNI1; NbExp=3; IntAct=EBI-13317131, EBI-746692;
CC Q5VUJ9-2; P48788: TNNI2; NbExp=3; IntAct=EBI-13317131, EBI-7746394;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, flagellum axoneme
CC {ECO:0000250|UniProtKB:A8J3A0}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5VUJ9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5VUJ9-2; Sequence=VSP_021055, VSP_021056, VSP_021057;
CC Name=3;
CC IsoId=Q5VUJ9-3; Sequence=VSP_043273, VSP_043274;
CC -!- SIMILARITY: Belongs to the DRC8 family. {ECO:0000305}.
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DR EMBL; AK090927; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AK302883; BAG64061.1; -; mRNA.
DR EMBL; AL356512; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL589763; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC005357; AAH05357.1; -; mRNA.
DR EMBL; AB209286; BAD92523.1; -; mRNA.
DR CCDS; CCDS31082.1; -. [Q5VUJ9-2]
DR CCDS; CCDS44341.1; -. [Q5VUJ9-3]
DR RefSeq; NP_001137415.1; NM_001143943.1. [Q5VUJ9-3]
DR RefSeq; NP_115704.1; NM_032328.3. [Q5VUJ9-2]
DR AlphaFoldDB; Q5VUJ9; -.
DR SMR; Q5VUJ9; -.
DR BioGRID; 124015; 19.
DR IntAct; Q5VUJ9; 6.
DR STRING; 9606.ENSP00000355480; -.
DR iPTMnet; Q5VUJ9; -.
DR PhosphoSitePlus; Q5VUJ9; -.
DR BioMuta; EFCAB2; -.
DR DMDM; 74756857; -.
DR EPD; Q5VUJ9; -.
DR jPOST; Q5VUJ9; -.
DR MassIVE; Q5VUJ9; -.
DR MaxQB; Q5VUJ9; -.
DR PaxDb; Q5VUJ9; -.
DR PeptideAtlas; Q5VUJ9; -.
DR PRIDE; Q5VUJ9; -.
DR ProteomicsDB; 65421; -. [Q5VUJ9-1]
DR ProteomicsDB; 65422; -. [Q5VUJ9-2]
DR ProteomicsDB; 65423; -. [Q5VUJ9-3]
DR Antibodypedia; 34718; 27 antibodies from 11 providers.
DR DNASU; 84288; -.
DR Ensembl; ENST00000366523.6; ENSP00000355480.1; ENSG00000203666.13. [Q5VUJ9-2]
DR Ensembl; ENST00000447569.6; ENSP00000408661.2; ENSG00000203666.13. [Q5VUJ9-3]
DR GeneID; 84288; -.
DR KEGG; hsa:84288; -.
DR MANE-Select; ENST00000366523.6; ENSP00000355480.1; NM_032328.4; NP_115704.1. [Q5VUJ9-2]
DR UCSC; uc001ibc.3; human. [Q5VUJ9-1]
DR CTD; 84288; -.
DR DisGeNET; 84288; -.
DR GeneCards; EFCAB2; -.
DR HGNC; HGNC:28166; EFCAB2.
DR HPA; ENSG00000203666; Low tissue specificity.
DR MIM; 619617; gene.
DR neXtProt; NX_Q5VUJ9; -.
DR OpenTargets; ENSG00000203666; -.
DR PharmGKB; PA142671914; -.
DR VEuPathDB; HostDB:ENSG00000203666; -.
DR eggNOG; KOG0027; Eukaryota.
DR GeneTree; ENSGT00940000160590; -.
DR HOGENOM; CLU_061288_19_2_1; -.
DR InParanoid; Q5VUJ9; -.
DR OMA; RDYISMM; -.
DR OrthoDB; 1226331at2759; -.
DR PhylomeDB; Q5VUJ9; -.
DR TreeFam; TF324069; -.
DR PathwayCommons; Q5VUJ9; -.
DR SignaLink; Q5VUJ9; -.
DR BioGRID-ORCS; 84288; 15 hits in 1075 CRISPR screens.
DR ChiTaRS; EFCAB2; human.
DR GenomeRNAi; 84288; -.
DR Pharos; Q5VUJ9; Tdark.
DR PRO; PR:Q5VUJ9; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5VUJ9; protein.
DR Bgee; ENSG00000203666; Expressed in right uterine tube and 180 other tissues.
DR ExpressionAtlas; Q5VUJ9; baseline and differential.
DR Genevisible; Q5VUJ9; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
DR GO; GO:0097228; C:sperm principal piece; IBA:GO_Central.
DR GO; GO:0005509; F:calcium ion binding; IEA:Ensembl.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR002048; EF_hand_dom.
DR SMART; SM00054; EFh; 2.
DR SUPFAM; SSF47473; SSF47473; 1.
DR PROSITE; PS50222; EF_HAND_2; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Cytoplasm; Cytoskeleton;
KW Flagellum; Reference proteome; Repeat.
FT CHAIN 1..269
FT /note="Dynein regulatory complex protein 8"
FT /id="PRO_0000253544"
FT DOMAIN 150..185
FT /note="EF-hand 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 228..263
FT /note="EF-hand 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT REGION 1..113
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 51..71
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 85..99
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..136
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_021055"
FT VAR_SEQ 1..8
FT /note="MLGPGQVR -> MADEKDRE (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043273"
FT VAR_SEQ 9..144
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043274"
FT VAR_SEQ 137..144
FT /note="MTVLWGTQ -> MADEKDRE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_021056"
FT VAR_SEQ 261..269
FT /note="DGVSLRRPG -> GEPFSQEEMEEMLSAAIDPESNSINYKDYITMMVIDEN
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_021057"
FT CONFLICT 39
FT /note="T -> A (in Ref. 1; AK090927)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 269 AA; 29714 MW; FB123E7B09D12704 CRC64;
MLGPGQVRLR PRVWRDKAGG RVADGASGLP PARGSWRETG TGRALGASSP PRPAQGSSSP
GIQSGPSSRP GSPRGAEQAG TPRPRLSLGI SQATGSAARW RTRRTGKGLG YNSDEIRPRT
LLIEHLMEGG RRDHHTMTVL WGTQEIIVAE FHKKIKEAFE VFDHESNNTV DVREIGTIIR
SLGCCPTEGE LHDLIAEVEE EEPTGYIRFE KFLPVMTEIL LERKYRPIPE DVLLRAFEVL
DSAKRGFLTK DELIKYMTEE DGVSLRRPG
