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CC148_HUMAN
ID   CC148_HUMAN             Reviewed;         591 AA.
AC   Q8NFR7; F5H839; Q3B7I3; Q3B7I4; Q3KR41; Q4ZG12; Q4ZG23; Q53TM6; Q96BN5;
AC   Q96LM2;
DT   18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT   11-JAN-2011, sequence version 2.
DT   03-AUG-2022, entry version 118.
DE   RecName: Full=Coiled-coil domain-containing protein 148;
GN   Name=CCDC148;
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), AND VARIANT ARG-329.
RC   TISSUE=Brain;
RA   Guo J.H., Yu L.;
RL   Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), AND VARIANT
RP   ARG-329.
RC   TISSUE=Testis, and Uterus;
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=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   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ARG-329.
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] (ISOFORMS 2 AND 3), AND VARIANTS
RP   VAL-157 AND ARG-329.
RC   TISSUE=Prostate;
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       Q8NFR7; P21673: SAT1; NbExp=5; IntAct=EBI-2349862, EBI-711613;
CC       Q8NFR7; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-2349862, EBI-739895;
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=4;
CC       Name=1;
CC         IsoId=Q8NFR7-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8NFR7-2; Sequence=VSP_032532, VSP_032533, VSP_032534,
CC                                  VSP_032535;
CC       Name=3;
CC         IsoId=Q8NFR7-3; Sequence=VSP_032536;
CC       Name=4;
CC         IsoId=Q8NFR7-4; Sequence=VSP_045395, VSP_045396, VSP_045397;
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAI07598.1; Type=Frameshift; Evidence={ECO:0000305};
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DR   EMBL; AF458588; AAM49716.1; -; mRNA.
DR   EMBL; AK058105; BAB71668.1; -; mRNA.
DR   EMBL; AK311042; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; AC019044; AAX88983.1; -; Genomic_DNA.
DR   EMBL; AC069146; AAX88933.1; -; Genomic_DNA.
DR   EMBL; AC008070; AAY14928.1; -; Genomic_DNA.
DR   EMBL; CH471058; EAX11435.1; -; Genomic_DNA.
DR   EMBL; BC015395; AAH15395.1; -; mRNA.
DR   EMBL; BC105928; AAI05929.1; -; mRNA.
DR   EMBL; BC107596; AAI07597.1; -; mRNA.
DR   EMBL; BC107597; AAI07598.1; ALT_FRAME; mRNA.
DR   CCDS; CCDS33304.1; -. [Q8NFR7-1]
DR   CCDS; CCDS77476.1; -. [Q8NFR7-3]
DR   RefSeq; NP_001288613.1; NM_001301684.1.
DR   RefSeq; NP_001288614.1; NM_001301685.1. [Q8NFR7-3]
DR   RefSeq; NP_620158.3; NM_138803.3. [Q8NFR7-1]
DR   AlphaFoldDB; Q8NFR7; -.
DR   BioGRID; 126264; 12.
DR   IntAct; Q8NFR7; 10.
DR   STRING; 9606.ENSP00000283233; -.
DR   iPTMnet; Q8NFR7; -.
DR   PhosphoSitePlus; Q8NFR7; -.
DR   BioMuta; CCDC148; -.
DR   DMDM; 317373336; -.
DR   PaxDb; Q8NFR7; -.
DR   PeptideAtlas; Q8NFR7; -.
DR   PRIDE; Q8NFR7; -.
DR   ProteomicsDB; 27674; -.
DR   ProteomicsDB; 73339; -. [Q8NFR7-1]
DR   ProteomicsDB; 73340; -. [Q8NFR7-2]
DR   ProteomicsDB; 73341; -. [Q8NFR7-3]
DR   Antibodypedia; 33710; 83 antibodies from 17 providers.
DR   DNASU; 130940; -.
DR   Ensembl; ENST00000283233.10; ENSP00000283233.5; ENSG00000153237.18. [Q8NFR7-1]
DR   Ensembl; ENST00000409889.1; ENSP00000386583.1; ENSG00000153237.18. [Q8NFR7-3]
DR   GeneID; 130940; -.
DR   KEGG; hsa:130940; -.
DR   MANE-Select; ENST00000283233.10; ENSP00000283233.5; NM_138803.4; NP_620158.3.
DR   UCSC; uc002tzq.4; human. [Q8NFR7-1]
DR   CTD; 130940; -.
DR   DisGeNET; 130940; -.
DR   GeneCards; CCDC148; -.
DR   HGNC; HGNC:25191; CCDC148.
DR   HPA; ENSG00000153237; Tissue enhanced (testis).
DR   neXtProt; NX_Q8NFR7; -.
DR   OpenTargets; ENSG00000153237; -.
DR   PharmGKB; PA162381559; -.
DR   VEuPathDB; HostDB:ENSG00000153237; -.
DR   eggNOG; ENOG502QV5F; Eukaryota.
DR   GeneTree; ENSGT00940000153988; -.
DR   HOGENOM; CLU_032590_0_0_1; -.
DR   InParanoid; Q8NFR7; -.
DR   OMA; GMRSTKY; -.
DR   OrthoDB; 989516at2759; -.
DR   PhylomeDB; Q8NFR7; -.
DR   TreeFam; TF332726; -.
DR   PathwayCommons; Q8NFR7; -.
DR   SignaLink; Q8NFR7; -.
DR   BioGRID-ORCS; 130940; 12 hits in 1068 CRISPR screens.
DR   GenomeRNAi; 130940; -.
DR   Pharos; Q8NFR7; Tdark.
DR   PRO; PR:Q8NFR7; -.
DR   Proteomes; UP000005640; Chromosome 2.
DR   RNAct; Q8NFR7; protein.
DR   Bgee; ENSG00000153237; Expressed in bronchial epithelial cell and 111 other tissues.
DR   ExpressionAtlas; Q8NFR7; baseline and differential.
DR   Genevisible; Q8NFR7; HS.
DR   InterPro; IPR039902; CCDC148/CCDC112.
DR   PANTHER; PTHR21549; PTHR21549; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Coiled coil; Reference proteome.
FT   CHAIN           1..591
FT                   /note="Coiled-coil domain-containing protein 148"
FT                   /id="PRO_0000326063"
FT   COILED          166..195
FT                   /evidence="ECO:0000255"
FT   COILED          352..417
FT                   /evidence="ECO:0000255"
FT   COILED          466..498
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         1..152
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_032532"
FT   VAR_SEQ         1..86
FT                   /note="Missing (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_045395"
FT   VAR_SEQ         153..162
FT                   /note="EFNSMKVLEE -> MNVFVTLQIL (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_032533"
FT   VAR_SEQ         256..591
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039,
FT                   ECO:0000303|PubMed:15489334"
FT                   /id="VSP_032536"
FT   VAR_SEQ         371..385
FT                   /note="VRQWRAHQEEVARLE -> SQVCLYQQHENGLIQ (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_045396"
FT   VAR_SEQ         386..591
FT                   /note="Missing (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_045397"
FT   VAR_SEQ         417..426
FT                   /note="KIKKYWAKKK -> SFGIRMILAS (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_032534"
FT   VAR_SEQ         427..591
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_032535"
FT   VARIANT         75
FT                   /note="Q -> R (in dbSNP:rs4664950)"
FT                   /id="VAR_039982"
FT   VARIANT         157
FT                   /note="M -> V (in dbSNP:rs12620556)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_039983"
FT   VARIANT         329
FT                   /note="K -> R (in dbSNP:rs7559772)"
FT                   /evidence="ECO:0000269|PubMed:14702039,
FT                   ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1,
FT                   ECO:0000269|Ref.4"
FT                   /id="VAR_039984"
FT   CONFLICT        307
FT                   /note="Y -> F (in Ref. 5; AAI07597)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   591 AA;  71076 MW;  B83A5D4FBEFCFFCF CRC64;
     MCAASASPDN LVFHMKNEMR NIKYKPVDYQ QLRALTEAKK LASASAKLKI RKAMLTSKLS
     KEQTLIKQHK QVWWQEYQRL NEVRCKMESE IKSLLNEENI GNECLCDLTN FEQELSEQQC
     TYLKNVINPI QQLRADLKYR QHHTLQHSHP HIEFNSMKVL EEVDFVKKQL KTVFERLRLE
     QQRIENDLSD WSIKILDHSL EEKTNPLSEL PIELESLECP YPDLKSSILS EFYKFTQKYQ
     KKLQDFNLQL EDIYRNCQLS EEDHWIYQAI LDQYPGDLFG RRTLYLDMLQ RYFPHKSRHD
     LVEHEKYCDQ YRFAIEQQNI LISNWNKNKK DFIQKAVLTL TEACATHEME SMLAKDKKKQ
     QELCADLKAK VRQWRAHQEE VARLEMEISA RRREKEEEKE KLWKKKELLQ RAEKKKKIKK
     YWAKKKQKWQ EMEMRDLQRL EELKKLIAEQ SLKDRERVKY RQELLERRLM EKKEVALQEA
     HEDKERARRL EALRKQVAVV AQFDPVRMMS DTMASKARMG IEIEEEFILQ KPLFTLNTYN
     EQQIISDPRL RFELALREAG LHRTLYAKEI LPKISPQKPP RKDMESTVFK I
 
 
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