CC71L_HUMAN
ID CC71L_HUMAN Reviewed; 235 AA.
AC Q8N9Z2; Q7Z756;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-MAY-2008, sequence version 2.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Coiled-coil domain-containing protein 71L;
GN Name=CCDC71L; Synonyms=C7orf74;
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=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Placenta;
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 5-235 (ISOFORM 1).
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 [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-52; SER-89; THR-185 AND
RP SER-198, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N9Z2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N9Z2-2; Sequence=VSP_033753;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH13906.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=EAL24398.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC004917; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH236947; EAL24398.1; ALT_INIT; Genomic_DNA.
DR EMBL; BC013906; AAH13906.1; ALT_INIT; mRNA.
DR EMBL; AK093350; BAC04142.1; -; mRNA.
DR CCDS; CCDS55151.1; -. [Q8N9Z2-1]
DR RefSeq; NP_787080.2; NM_175884.5. [Q8N9Z2-1]
DR AlphaFoldDB; Q8N9Z2; -.
DR BioGRID; 127965; 23.
DR IntAct; Q8N9Z2; 10.
DR MINT; Q8N9Z2; -.
DR STRING; 9606.ENSP00000430897; -.
DR iPTMnet; Q8N9Z2; -.
DR PhosphoSitePlus; Q8N9Z2; -.
DR BioMuta; CCDC71L; -.
DR DMDM; 189041191; -.
DR EPD; Q8N9Z2; -.
DR jPOST; Q8N9Z2; -.
DR MassIVE; Q8N9Z2; -.
DR MaxQB; Q8N9Z2; -.
DR PaxDb; Q8N9Z2; -.
DR PeptideAtlas; Q8N9Z2; -.
DR PRIDE; Q8N9Z2; -.
DR ProteomicsDB; 72613; -. [Q8N9Z2-1]
DR ProteomicsDB; 72614; -. [Q8N9Z2-2]
DR Antibodypedia; 76673; 4 antibodies from 4 providers.
DR DNASU; 168455; -.
DR Ensembl; ENST00000523505.3; ENSP00000430897.2; ENSG00000253276.5. [Q8N9Z2-1]
DR GeneID; 168455; -.
DR KEGG; hsa:168455; -.
DR MANE-Select; ENST00000523505.3; ENSP00000430897.2; NM_175884.6; NP_787080.2.
DR UCSC; uc003vdt.4; human. [Q8N9Z2-1]
DR CTD; 168455; -.
DR DisGeNET; 168455; -.
DR GeneCards; CCDC71L; -.
DR HGNC; HGNC:26685; CCDC71L.
DR HPA; ENSG00000253276; Low tissue specificity.
DR neXtProt; NX_Q8N9Z2; -.
DR OpenTargets; ENSG00000253276; -.
DR VEuPathDB; HostDB:ENSG00000253276; -.
DR eggNOG; ENOG502S4D3; Eukaryota.
DR GeneTree; ENSGT00940000155306; -.
DR HOGENOM; CLU_103792_0_0_1; -.
DR InParanoid; Q8N9Z2; -.
DR OMA; WEPFGGK; -.
DR OrthoDB; 1515985at2759; -.
DR PhylomeDB; Q8N9Z2; -.
DR TreeFam; TF336191; -.
DR PathwayCommons; Q8N9Z2; -.
DR SignaLink; Q8N9Z2; -.
DR BioGRID-ORCS; 168455; 26 hits in 1074 CRISPR screens.
DR GenomeRNAi; 168455; -.
DR Pharos; Q8N9Z2; Tdark.
DR PRO; PR:Q8N9Z2; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8N9Z2; protein.
DR Bgee; ENSG00000253276; Expressed in pericardium and 166 other tissues.
DR ExpressionAtlas; Q8N9Z2; baseline and differential.
DR Genevisible; Q8N9Z2; HS.
DR GO; GO:0044255; P:cellular lipid metabolic process; ISS:BHF-UCL.
DR GO; GO:0045600; P:positive regulation of fat cell differentiation; ISS:BHF-UCL.
DR InterPro; IPR026695; Ccdc71/71L.
DR PANTHER; PTHR14484; PTHR14484; 1.
DR Pfam; PF15374; CCDC71L; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Phosphoprotein; Reference proteome.
FT CHAIN 1..235
FT /note="Coiled-coil domain-containing protein 71L"
FT /id="PRO_0000334673"
FT REGION 1..30
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 109..167
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..15
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 125..145
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 146..164
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 52
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 89
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 185
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 198
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 102..235
FT /note="SSCRALVPDPPGPPTARGQARRPVPRAAARRRRRGARAAAARRRKPRPPPPP
FT PPPPEESCPAKPVAPGPCFGGRTLEEIWRAATPTLTTFPTIRVGSDVWGERSLAAARRR
FT ARQVLRVNLEPMVRLRRFPVPRA -> SPYSPRPGAPAGSARSGQEEAPRSPGGRCPQE
FT EAPAATPTAAAPRGELPGQARGPRALLRGPHLGGDLEGGHPDADHLPHHPRRQRRVGRA
FT QPGGSAAQGAPGPASEPGTHGEAPPLPGAPGMRCGLQGASCRPRPWDRPSARRNEQVSV
FT ECLQIRPGPRPPMHFTREEVAGWLSLSRAAARSSWTLGQVCPLLPPVPGLRREGTAGPA
FT GEVPFFLTTD (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033753"
SQ SEQUENCE 235 AA; 26261 MW; 0BC49A4258375789 CRC64;
MRRSMKRRRR RRPVAPATAA RGGDFRAEDG AGLEAREEKV VYSRSQLSLA DSTKALGDAF
KLFMPRSTEF MSSDAELWSF LCSLKHQFSP HILRSKDVYG YSSCRALVPD PPGPPTARGQ
ARRPVPRAAA RRRRRGARAA AARRRKPRPP PPPPPPPEES CPAKPVAPGP CFGGRTLEEI
WRAATPTLTT FPTIRVGSDV WGERSLAAAR RRARQVLRVN LEPMVRLRRF PVPRA
