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
