CC141_HUMAN
ID CC141_HUMAN Reviewed; 1450 AA.
AC Q6ZP82; H7C0P1; J3KNW6; Q8N8H3;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 26-NOV-2014, sequence version 2.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=Coiled-coil domain-containing protein 141;
DE AltName: Full=Coiled-coil protein associated with myosin II and DISC1 {ECO:0000303|PubMed:20956536};
GN Name=CCDC141; Synonyms=CAMDI {ECO:0000303|PubMed:20956536};
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 GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 557-1450 (ISOFORM 1), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1121-1450 (ISOFORM 2).
RC TISSUE=Heart;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 560-1450 (ISOFORM 1).
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 CHARACTERIZATION OF VARIANT TRP-828.
RX PubMed=20956536; DOI=10.1074/jbc.m110.179481;
RA Fukuda T., Sugita S., Inatome R., Yanagi S.;
RT "CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is
RT required for radial migration.";
RL J. Biol. Chem. 285:40554-40561(2010).
CC -!- FUNCTION: Plays a critical role in radial migration and centrosomal
CC function. {ECO:0000250|UniProtKB:A2AST1}.
CC -!- SUBUNIT: Interacts with DISC1. Interacts preferentially with
CC phosphorylated forms of myosin regulatory light chain (MRLC).
CC {ECO:0000250|UniProtKB:A2AST1}.
CC -!- INTERACTION:
CC Q6ZP82; P28329-3: CHAT; NbExp=3; IntAct=EBI-928795, EBI-25837549;
CC Q6ZP82; Q9NRI5: DISC1; NbExp=5; IntAct=EBI-928795, EBI-529989;
CC Q6ZP82; P22607: FGFR3; NbExp=3; IntAct=EBI-928795, EBI-348399;
CC Q6ZP82; P21333-2: FLNA; NbExp=3; IntAct=EBI-928795, EBI-9641086;
CC Q6ZP82; P06396: GSN; NbExp=3; IntAct=EBI-928795, EBI-351506;
CC Q6ZP82; Q9NSC5: HOMER3; NbExp=3; IntAct=EBI-928795, EBI-748420;
CC Q6ZP82; O60333-2: KIF1B; NbExp=3; IntAct=EBI-928795, EBI-10975473;
CC Q6ZP82; P31153: MAT2A; NbExp=3; IntAct=EBI-928795, EBI-1050743;
CC Q6ZP82; Q8N2W9: PIAS4; NbExp=3; IntAct=EBI-928795, EBI-473160;
CC Q6ZP82; P60891: PRPS1; NbExp=3; IntAct=EBI-928795, EBI-749195;
CC Q6ZP82; O76024: WFS1; NbExp=3; IntAct=EBI-928795, EBI-720609;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A2AST1}.
CC Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
CC {ECO:0000250|UniProtKB:A2AST1}. Note=Co-localized with DISC1 at/around
CC the centrosome. Localizes to the centrosome, at least in part, in a
CC DISC1-dependent manner. {ECO:0000250|UniProtKB:A2AST1}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6ZP82-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZP82-2; Sequence=VSP_035968;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI15379.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAX88845.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=BAC04869.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC04869.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305};
CC Sequence=BAC85242.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC023270; AAX88845.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AC093792; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC092640; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471058; EAX11011.1; -; Genomic_DNA.
DR EMBL; AK096821; BAC04869.1; ALT_SEQ; mRNA.
DR EMBL; AK129847; BAC85242.1; ALT_INIT; mRNA.
DR EMBL; BC115378; AAI15379.1; ALT_INIT; mRNA.
DR RefSeq; NP_775919.3; NM_173648.3. [Q6ZP82-2]
DR AlphaFoldDB; Q6ZP82; -.
DR SMR; Q6ZP82; -.
DR BioGRID; 130000; 10.
DR IntAct; Q6ZP82; 16.
DR STRING; 9606.ENSP00000395995; -.
DR iPTMnet; Q6ZP82; -.
DR PhosphoSitePlus; Q6ZP82; -.
DR BioMuta; CCDC141; -.
DR DMDM; 74758754; -.
DR EPD; Q6ZP82; -.
DR MassIVE; Q6ZP82; -.
DR MaxQB; Q6ZP82; -.
DR PaxDb; Q6ZP82; -.
DR PeptideAtlas; Q6ZP82; -.
DR PRIDE; Q6ZP82; -.
DR ProteomicsDB; 44366; -.
DR ProteomicsDB; 68066; -. [Q6ZP82-1]
DR ProteomicsDB; 68067; -. [Q6ZP82-2]
DR Antibodypedia; 2560; 99 antibodies from 20 providers.
DR DNASU; 285025; -.
DR Ensembl; ENST00000443758.7; ENSP00000390190.2; ENSG00000163492.16. [Q6ZP82-2]
DR GeneID; 285025; -.
DR KEGG; hsa:285025; -.
DR MANE-Select; ENST00000443758.7; ENSP00000390190.2; NM_173648.4; NP_775919.3. [Q6ZP82-2]
DR UCSC; uc002une.2; human. [Q6ZP82-1]
DR CTD; 285025; -.
DR DisGeNET; 285025; -.
DR GeneCards; CCDC141; -.
DR GeneReviews; CCDC141; -.
DR HGNC; HGNC:26821; CCDC141.
DR HPA; ENSG00000163492; Tissue enriched (heart).
DR MalaCards; CCDC141; -.
DR MIM; 616031; gene.
DR neXtProt; NX_Q6ZP82; -.
DR OpenTargets; ENSG00000163492; -.
DR Orphanet; 478; Kallmann syndrome.
DR PharmGKB; PA162381449; -.
DR VEuPathDB; HostDB:ENSG00000163492; -.
DR eggNOG; KOG4240; Eukaryota.
DR GeneTree; ENSGT00440000038972; -.
DR HOGENOM; CLU_251402_0_0_1; -.
DR InParanoid; Q6ZP82; -.
DR OMA; VYIMKNT; -.
DR OrthoDB; 54602at2759; -.
DR TreeFam; TF331580; -.
DR PathwayCommons; Q6ZP82; -.
DR SignaLink; Q6ZP82; -.
DR BioGRID-ORCS; 285025; 4 hits in 215 CRISPR screens.
DR ChiTaRS; CCDC141; human.
DR GenomeRNAi; 285025; -.
DR Pharos; Q6ZP82; Tbio.
DR PRO; PR:Q6ZP82; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q6ZP82; protein.
DR Bgee; ENSG00000163492; Expressed in heart left ventricle and 101 other tissues.
DR ExpressionAtlas; Q6ZP82; baseline and differential.
DR Genevisible; Q6ZP82; HS.
DR GO; GO:0005813; C:centrosome; IEA:Ensembl.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0043005; C:neuron projection; IBA:GO_Central.
DR GO; GO:0051642; P:centrosome localization; IEA:Ensembl.
DR GO; GO:0021799; P:cerebral cortex radially oriented cell migration; IEA:Ensembl.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR SUPFAM; SSF48726; SSF48726; 1.
DR PROSITE; PS50835; IG_LIKE; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Cytoskeleton;
KW Immunoglobulin domain; Reference proteome.
FT CHAIN 1..1450
FT /note="Coiled-coil domain-containing protein 141"
FT /id="PRO_0000317296"
FT DOMAIN 1409..1450
FT /note="Ig-like"
FT REGION 1210..1241
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 642..706
FT /evidence="ECO:0000255"
FT COILED 758..783
FT /evidence="ECO:0000255"
FT COILED 861..970
FT /evidence="ECO:0000255"
FT VAR_SEQ 1443..1450
FT /note="WVAYNDKP -> YKKGQKLSADGHLQVLHKETRHSVFIPKVCKADAGLYVAR
FT AQNSSGALSSNVILHVTGNCRLPITRVNWITLCVVYVSVSLMYWLLTQ (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:20956536"
FT /id="VSP_035968"
FT VARIANT 828
FT /note="R -> W (reduced affinity for MRLC and impairs
FT cortical migration; dbSNP:rs12988301)"
FT /id="VAR_047904"
FT VARIANT 935
FT /note="R -> W (in dbSNP:rs17362588)"
FT /id="VAR_047905"
FT VARIANT 1170
FT /note="N -> S (in dbSNP:rs13419085)"
FT /id="VAR_047906"
SQ SEQUENCE 1450 AA; 166261 MW; B2C38E3A4B16FA86 CRC64;
MSSQGSPSVA LSTTTVSSVA VQAGDSKIVI AVIKCGKWVQ LQLAESQPNL LEIGSSQDET
KKLLHDHELL LAKLKALEDR VWELLQEADK TAEENKDQSQ VYDAMAETLG EAWAALVSML
ERRTELLRLT SEFFENALEF AIKIDQAEDF LQNTHEFESA ESLKSLLQLH EHHTKELLER
SLALLNKSQQ LTDFIEKFKC EGPNVNPELT QGAHSSCLKV DRLLELLQDR RRQLDKYLKQ
QWQELSQVLQ ICQWDQQENQ VTCWFQKTIR NLQEQSLGSS LSDNEDRIHK QEELIIKAKE
WNSAVEKLKS EALRILLSKD YVEKEHLQLS HQKLSQLQEE FGQLMVERNT WLKKANEFFN
SANKAFDVLG RVEAYLKLLK SEGLSLAVLA VRHEELHRKI KDCTTDALQK GQTLISQVDS
CSSQVSGIHE MMGCIKRRVD HLTEQCSAHK EYALKKQQLT ASVEGYLRKV EMSIQKISPV
LSNAMDVGST RSESEKILNK YLELDIQAKE TSHELEAAAK TMMEKNEFVS DEMVSLSSKA
RWLAEELNLF GQSIDYRSQV LQTYVAFLKS SEEVEMQFQS LKEFYETEIP QKEQDDAKAK
HCSDSAEKQW QLFLKKSFIT QDLGLEFLNL INMAKENEIL DVKNEVYLMK NTMENQKAER
EELSLLRLAW QLKATESKPG KQQWAAFKEQ LKKTSHNLKL LQEALMPVSA LDLGGSLQFI
LDLRQKWNDM KPQFQQLNDE VQYIMKESEE LTGRGAPVKE KSQQLKDLIH FHQKQKERIQ
DYEDILYKVV QFHQVKEELG RLIKSRELEF VEQPKELGDA HDVQIHLRCS QEKQARVDHL
HRLALSLGVD IISSVQRPHC SNVSAKNLQQ QLELLEEDSM KWRAKAEEYG RTLSRSVEYC
AMRDEINELK DSFKDIKKKF NNLKFNYTKK NEKSRNLKAL KYQIQQVDMY AEKMQALKRK
MEKVSNKTSD SFLNYPSDKV NVLLEVMKDL QKHVDDFDKV VTDYKKNLDL TEHFQEVIEE
CHFWYEDASA TVVRVGKYST ECKTKEAVKI LHQQFNKFIA PSVPQQEERI QEATDLAQHL
YGLEEGQKYI EKIVTKHKEV LESVTELCES LTELEEKLKQ GDVLKMNPNL EDFHYDYIDL
LKEPAKNKQT IFNEERNKGQ VQVADLLGIN GTGEERLPQD LKVSTDKEGG VQDLLLPEDM
LSGEEYECVS PDDISLPPLP GSPESPLAPS DMEVEEPVSS SLSLHISSYG VQAGTSSPGD
AQESVLPPPV AFADACNDKR ETFSSHFERP YLQFKAEPPL TSRGFVEKST ALHRISAEHP
ESMMSEVHER ALQQHPQAQG GLLETREKMH ADNNFTKTQD RLHASSDAFS GLRFQSGTSR
GYQRQMVPRE EIKSTSAKSS VVSLADQAPN FSRLLSNVTV MEGSPVTLEV EVTGFPEPTL
TWWVAYNDKP
