CC191_HUMAN
ID CC191_HUMAN Reviewed; 936 AA.
AC Q8NCU4; B4DYL1; Q9P2E0;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=Coiled-coil domain-containing protein 191;
GN Name=CCDC191; Synonyms=KIAA1407;
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] (ISOFORM 1).
RC TISSUE=Kidney;
RA Yu L., Guo J.H.;
RL Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 193-936 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10718198; DOI=10.1093/dnares/7.1.65;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVI. The
RT complete sequences of 150 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:65-73(2000).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NCU4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NCU4-2; Sequence=VSP_057041, VSP_057042, VSP_057043;
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DR EMBL; AK302488; BAG63773.1; -; mRNA.
DR EMBL; AF509494; AAM34297.1; -; mRNA.
DR EMBL; AC092896; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC128687; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471052; EAW79615.1; -; Genomic_DNA.
DR EMBL; AB037828; BAA92645.1; -; mRNA.
DR CCDS; CCDS2977.1; -. [Q8NCU4-1]
DR RefSeq; NP_065868.1; NM_020817.1. [Q8NCU4-1]
DR AlphaFoldDB; Q8NCU4; -.
DR SMR; Q8NCU4; -.
DR BioGRID; 121630; 4.
DR IntAct; Q8NCU4; 5.
DR STRING; 9606.ENSP00000295878; -.
DR iPTMnet; Q8NCU4; -.
DR PhosphoSitePlus; Q8NCU4; -.
DR BioMuta; CCDC191; -.
DR DMDM; 74751201; -.
DR EPD; Q8NCU4; -.
DR MassIVE; Q8NCU4; -.
DR PaxDb; Q8NCU4; -.
DR PeptideAtlas; Q8NCU4; -.
DR PRIDE; Q8NCU4; -.
DR ProteomicsDB; 5531; -.
DR ProteomicsDB; 72948; -. [Q8NCU4-1]
DR Antibodypedia; 52585; 9 antibodies from 6 providers.
DR DNASU; 57577; -.
DR Ensembl; ENST00000295878.8; ENSP00000295878.3; ENSG00000163617.11. [Q8NCU4-1]
DR GeneID; 57577; -.
DR KEGG; hsa:57577; -.
DR MANE-Select; ENST00000295878.8; ENSP00000295878.3; NM_020817.2; NP_065868.1.
DR UCSC; uc003eax.3; human. [Q8NCU4-1]
DR CTD; 57577; -.
DR GeneCards; CCDC191; -.
DR HGNC; HGNC:29272; CCDC191.
DR HPA; ENSG00000163617; Low tissue specificity.
DR neXtProt; NX_Q8NCU4; -.
DR OpenTargets; ENSG00000163617; -.
DR PharmGKB; PA134916748; -.
DR VEuPathDB; HostDB:ENSG00000163617; -.
DR eggNOG; ENOG502QS57; Eukaryota.
DR GeneTree; ENSGT00940000154110; -.
DR HOGENOM; CLU_015375_0_0_1; -.
DR InParanoid; Q8NCU4; -.
DR OMA; PAFGPDN; -.
DR OrthoDB; 343530at2759; -.
DR PhylomeDB; Q8NCU4; -.
DR TreeFam; TF332632; -.
DR PathwayCommons; Q8NCU4; -.
DR SignaLink; Q8NCU4; -.
DR BioGRID-ORCS; 57577; 11 hits in 1069 CRISPR screens.
DR ChiTaRS; CCDC191; human.
DR GenomeRNAi; 57577; -.
DR Pharos; Q8NCU4; Tdark.
DR PRO; PR:Q8NCU4; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8NCU4; protein.
DR Bgee; ENSG00000163617; Expressed in right uterine tube and 126 other tissues.
DR ExpressionAtlas; Q8NCU4; baseline and differential.
DR Genevisible; Q8NCU4; HS.
DR InterPro; IPR026174; CC191.
DR PANTHER; PTHR22028:SF5; PTHR22028:SF5; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..936
FT /note="Coiled-coil domain-containing protein 191"
FT /id="PRO_0000309221"
FT REGION 495..541
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 607..656
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 691..714
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 189..270
FT /evidence="ECO:0000255"
FT COILED 364..440
FT /evidence="ECO:0000255"
FT COILED 554..592
FT /evidence="ECO:0000255"
FT COILED 662..739
FT /evidence="ECO:0000255"
FT COMPBIAS 621..638
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..169
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_057041"
FT VAR_SEQ 660..683
FT /note="AMEERAIQRAECRRILAEKKKKQE -> GRAVSVVALVVVIFSPRVECVHWD
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_057042"
FT VAR_SEQ 684..936
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_057043"
FT VARIANT 374
FT /note="R -> W (in dbSNP:rs17603649)"
FT /id="VAR_036913"
FT VARIANT 696
FT /note="E -> D (in dbSNP:rs6784095)"
FT /id="VAR_036914"
SQ SEQUENCE 936 AA; 110568 MW; 8948F3F9737F8B5D CRC64;
MLLAPQGRSF SKKRMGLNRW KRFTRKPSPK PTFGPDSVEH WIKRVEKASE FAVSNAFFTR
NSDLPRSPWG QITDLKTSEQ IEDHDEIYAE AQELVNDWLD TKLKQELASE EEGDAKNTVS
SVTIMPEANG HLKYDKFDDL CGYLEEEEES TTVQKFIDHL LHKNVVDSAM MEDLGRKENQ
DKKQQKDPRL TMEMRHKQVK ENRLRREKEL EYQRIEKTLK KSAFLEAQCL VQEEKKRKAL
EAKKEEEEIQ REMVKLRREI IERRRTVKAA WKIEKKRQEE NSQNSSEKVM FQSTHILPDE
EKMVKERKRK LKEVLIQTFK ENQQCQKRYF AAWHKLILDH RIKLGKAGTL SDWKIQLKVL
RAWRDYTRFQ KLERETQALE NDLREENRKQ QLATEYNRKQ VLRHCFTEWQ HWHGAELLKR
ELALTKEETR KKMDALLQAA SLGKLSANGL SGISLPEEAT AMVGPPVKNG QETAVPPLWE
KPPLGSSGCM LSPPLGRTTT GNLQGSLQNV SLSAPGNKQH KTLGAEPSQQ PGSNETLRTT
SQKAEPLCLG HFHNRHVFQQ QLIEKQKKKL QEQQKTILEL KKNLQLAEAQ WAAEHALAVT
EAQSHLLSKP REEEPRTCQM LVNSPVASPG TEGRSDSRNS LSGLRRKPKQ LMTPHPILKA
MEERAIQRAE CRRILAEKKK KQEEEKLAQL KAQEEERQKR EAEEKEAQLE RKREEKRLKK
MKELEKQKRI KRNQQLEAIA KEHYERVLLR KKGLEPWKRL RMQSKQNIQV AEEHYSLFLQ
RKYMLTWFQR SQESLARKMA QADQFYSQIL LKRVIQSWLQ YVIDLQEEVR KFCVHFLQKK
IFRAWFNMVR EVKIDSQGKH EIAAEHSDRR ILWITLRTWK KFVKFMKEER VKEERRQQLR
RKVVEILPDF QVPGRYHELY QQSDTWSLSK TSLVNE
