ID   CC171_HUMAN             Reviewed;        1326 AA.
AC   Q6TFL3; B7ZM22; Q5SU58; Q6P1W1; Q6ZR13; Q8N1Z4; Q8N8L3; Q8TBR2;
DT   02-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT   05-JUL-2004, sequence version 1.
DT   27-MAR-2024, entry version 132.
DE   RecName: Full=Coiled-coil domain-containing protein 171;
GN   Name=CCDC171; Synonyms=C9orf93;
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 [MRNA] (ISOFORM 1).
RA   Huang C.Q., Wu S.L., Liu S.;
RL   Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15164053; DOI=10.1038/nature02465;
RA   Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA   Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA   Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA   Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA   Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA   Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA   Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA   Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA   Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA   Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA   Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA   Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA   Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA   Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA   Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA   Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA   Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA   Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA   McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA   Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA   Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA   Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA   Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA   West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA   Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA   Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA   Dunham I.;
RT   "DNA sequence and analysis of human chromosome 9.";
RL   Nature 429:369-374(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 475-1326 (ISOFORM 1), NUCLEOTIDE
RP   SEQUENCE [LARGE SCALE MRNA] OF 752-1326 (ISOFORM 2), AND VARIANT ARG-1069.
RC   TISSUE=Brain cortex, Fetal brain, and Trachea;
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] (ISOFORM 3), NUCLEOTIDE SEQUENCE
RP   [LARGE SCALE MRNA] OF 494-1326 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE
RP   SCALE MRNA] OF 805-1203 (ISOFORM 2), AND VARIANTS ASN-17 AND ARG-1069.
RC   TISSUE=Lung, and Testis;
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   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q6TFL3-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q6TFL3-3; Sequence=VSP_014445, VSP_014446;
CC       Name=3;
CC         IsoId=Q6TFL3-4; Sequence=VSP_043768;
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAC04370.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC       Sequence=BAC04823.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC       Sequence=BAC87511.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR   EMBL; AY422473; AAR13704.1; -; mRNA.
DR   EMBL; AL359877; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL513423; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL592153; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL662788; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AK094506; BAC04370.1; ALT_INIT; mRNA.
DR   EMBL; AK096586; BAC04823.1; ALT_INIT; mRNA.
DR   EMBL; AK128581; BAC87511.1; ALT_INIT; mRNA.
DR   EMBL; BC026063; AAH26063.2; -; mRNA.
DR   EMBL; BC064849; AAH64849.1; -; mRNA.
DR   EMBL; BC144214; AAI44215.1; -; mRNA.
DR   EMBL; BC150600; AAI50601.1; -; mRNA.
DR   CCDS; CCDS6481.1; -. [Q6TFL3-1]
DR   RefSeq; NP_775821.2; NM_173550.3. [Q6TFL3-1]
DR   RefSeq; XP_005251454.1; XM_005251397.2. [Q6TFL3-4]
DR   RefSeq; XP_005251455.1; XM_005251398.3. [Q6TFL3-4]
DR   RefSeq; XP_005251456.1; XM_005251399.4. [Q6TFL3-4]
DR   RefSeq; XP_011516090.1; XM_011517788.2. [Q6TFL3-4]
DR   AlphaFoldDB; Q6TFL3; -.
DR   SMR; Q6TFL3; -.
DR   BioGRID; 128459; 6.
DR   IntAct; Q6TFL3; 3.
DR   STRING; 9606.ENSP00000370077; -.
DR   GlyGen; Q6TFL3; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; Q6TFL3; -.
DR   PhosphoSitePlus; Q6TFL3; -.
DR   SwissPalm; Q6TFL3; -.
DR   BioMuta; CCDC171; -.
DR   DMDM; 71658803; -.
DR   EPD; Q6TFL3; -.
DR   jPOST; Q6TFL3; -.
DR   MassIVE; Q6TFL3; -.
DR   PaxDb; 9606-ENSP00000370077; -.
DR   PeptideAtlas; Q6TFL3; -.
DR   ProteomicsDB; 67389; -. [Q6TFL3-1]
DR   ProteomicsDB; 67390; -. [Q6TFL3-3]
DR   ProteomicsDB; 67391; -. [Q6TFL3-4]
DR   Antibodypedia; 10105; 57 antibodies from 9 providers.
DR   DNASU; 203238; -.
DR   Ensembl; ENST00000380701.8; ENSP00000370077.3; ENSG00000164989.17. [Q6TFL3-1]
DR   GeneID; 203238; -.
DR   KEGG; hsa:203238; -.
DR   MANE-Select; ENST00000380701.8; ENSP00000370077.3; NM_173550.4; NP_775821.2.
DR   UCSC; uc003zmd.4; human. [Q6TFL3-1]
DR   AGR; HGNC:29828; -.
DR   CTD; 203238; -.
DR   DisGeNET; 203238; -.
DR   GeneCards; CCDC171; -.
DR   HGNC; HGNC:29828; CCDC171.
DR   HPA; ENSG00000164989; Tissue enhanced (testis).
DR   neXtProt; NX_Q6TFL3; -.
DR   OpenTargets; ENSG00000164989; -.
DR   PharmGKB; PA134921892; -.
DR   VEuPathDB; HostDB:ENSG00000164989; -.
DR   eggNOG; ENOG502QT2H; Eukaryota.
DR   GeneTree; ENSGT00390000007924; -.
DR   HOGENOM; CLU_007506_0_0_1; -.
DR   InParanoid; Q6TFL3; -.
DR   OMA; CRRFECD; -.
DR   OrthoDB; 2917314at2759; -.
DR   PhylomeDB; Q6TFL3; -.
DR   TreeFam; TF330625; -.
DR   PathwayCommons; Q6TFL3; -.
DR   SignaLink; Q6TFL3; -.
DR   BioGRID-ORCS; 203238; 7 hits in 1151 CRISPR screens.
DR   ChiTaRS; CCDC171; human.
DR   GenomeRNAi; 203238; -.
DR   Pharos; Q6TFL3; Tdark.
DR   PRO; PR:Q6TFL3; -.
DR   Proteomes; UP000005640; Chromosome 9.
DR   RNAct; Q6TFL3; Protein.
DR   Bgee; ENSG00000164989; Expressed in male germ line stem cell (sensu Vertebrata) in testis and 115 other cell types or tissues.
DR   ExpressionAtlas; Q6TFL3; baseline and differential.
DR   Gene3D; 1.10.287.1490; -; 1.
DR   InterPro; IPR038820; CCDC171.
DR   PANTHER; PTHR47899; COILED-COIL DOMAIN-CONTAINING PROTEIN 171; 1.
DR   PANTHER; PTHR47899:SF1; COILED-COIL DOMAIN-CONTAINING PROTEIN 171; 1.
DR   Genevisible; Q6TFL3; HS.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Coiled coil; Reference proteome.
FT   CHAIN           1..1326
FT                   /note="Coiled-coil domain-containing protein 171"
FT                   /id="PRO_0000089727"
FT   REGION          1306..1326
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COILED          53..294
FT                   /evidence="ECO:0000255"
FT   COILED          323..391
FT                   /evidence="ECO:0000255"
FT   COILED          450..561
FT                   /evidence="ECO:0000255"
FT   COILED          597..630
FT                   /evidence="ECO:0000255"
FT   COILED          660..707
FT                   /evidence="ECO:0000255"
FT   COILED          765..792
FT                   /evidence="ECO:0000255"
FT   COILED          979..1143
FT                   /evidence="ECO:0000255"
FT   COILED          1217..1241
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         475
FT                   /note="E -> ELNSMNDVK (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_043768"
FT   VAR_SEQ         1201..1229
FT                   /note="AMIKSFMDVYQLASTRIMTLEKEMTSHRS -> VRVQWCDHSSLQSQMPGLK
FT                   QSSCLSLLST (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039,
FT                   ECO:0000303|PubMed:15489334"
FT                   /id="VSP_014445"
FT   VAR_SEQ         1230..1326
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039,
FT                   ECO:0000303|PubMed:15489334"
FT                   /id="VSP_014446"
FT   VARIANT         17
FT                   /note="I -> N (in dbSNP:rs443563)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_022803"
FT   VARIANT         121
FT                   /note="S -> T (in dbSNP:rs4741510)"
FT                   /id="VAR_022804"
FT   VARIANT         495
FT                   /note="N -> I (in dbSNP:rs10962127)"
FT                   /id="VAR_033685"
FT   VARIANT         821
FT                   /note="C -> Y (in dbSNP:rs34816651)"
FT                   /id="VAR_050841"
FT   VARIANT         1069
FT                   /note="K -> R (in dbSNP:rs1539172)"
FT                   /evidence="ECO:0000269|PubMed:14702039,
FT                   ECO:0000269|PubMed:15489334"
FT                   /id="VAR_022805"
FT   CONFLICT        417
FT                   /note="C -> R (in Ref. 4; AAI50601/AAI44215)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        475
FT                   /note="E -> K (in Ref. 3; BAC87511)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        823
FT                   /note="S -> T (in Ref. 3; BAC04823)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   1326 AA;  152810 MW;  27116BFFDBBD46F8 CRC64;
     MNLNTSSNTG DTQRLKIASL DVKQILKNET ELDITDNLRK KLHWAKKEKL EITTKHNAEL
     ASYESQIAKL RSEVEKGEAL RQSLEYDLAV ARKEAGLGRR AAEERLAEAH RIQEKLCAQN
     SELQAKTNET EKAFQTSQQK WKEECRRFEH DLEERDNMIQ NCNREYDLLM KEKSRLEKTL
     QEALEKHQRE KNEMESHIRE TALEEFRLQE EQWEAERREL QFIVQEQDTA VQNMHKKVEK
     LETEHMDCSD LLRRQTSELE FSTQREERLR KEFEATTLRV RKLEENIEAE RAAHLESKFN
     SEIIQLRIRD LEGALQVEKA SQAEAVADLE IIKNEFKEVE SAYEREKHNA QESFAKLNLL
     EKEYFSKNKK LNEDIEEQKK VIIDLSKRLQ YNEKSCSELQ EELVMAKKHQ AFLVETCENN
     VKELESILDS FTVSGQWTSG IHKDKDKPPS FSVVLERLRR TLTDYQNKLE DASNEEKACN
     ELDSTKQKID SHTKNIKELQ DKLADVNKEL SHLHTKCADR EALISTLKVE LQNVLHCWEK
     EKAQAAQSES ELQKLSQAFH KDAEEKLTFL HTLYQHLVAG CVLIKQPEGM LDKFSWSELC
     AVLQENVDAL IADLNRANEK IRHLEYICKN KSDTMRELQQ TQEDTFTKVA EQIKAQESCW
     HRQKKELELQ YSELFLEVQK RAQKFQEIAE KNMEKLNHIE KSHEQLVLEN SHFKKLLSQT
     QREQMSLLAA CALMAGALYP LYSRSCALST QRDFLQEQVN TFELFKLEIR TLAQALSTVE
     EKKQEEAKMK KKTFKGLIRI FRKGVIAVLA ANRLKILGQS CASLFTWMES FKEGIGMLVC
     TGEPQDKHKF PKHQKEQLRC LQALSWLTSS DLLAAIISSM AELQDVIGKA DPNSRICGHL
     LIGAAKNSFA KLMDKISLVM ECIPLHSSRS ITYVEKDSLV QRLAHGLHKV NTLALKYGLR
     GHVPITKSTA SLQKQILGFT QRLHAAEVER RSLRLEVTEF KRSVNEMKKE LDKAQGLQMQ
     LNEFKQSKLI THEKFESACE ELNNALLREE QAQMLLNEQA QQLQELNYKL ELHSSEEADK
     NQTLGEAVKS LSEAKMELRR KDQSLRQLNR HLTQLEQDKR RLEENIHDAE SALRMAAKDK
     ECVANHMRAV ENTLHKVRDQ ISLSWSAASR NDFTLQLPKL HLETFAMEGL KGGPEVVACQ
     AMIKSFMDVY QLASTRIMTL EKEMTSHRSH IAALKSELHT ACLRENASLQ SIGSRDHSNL
     SIPSRAPLPA DTTGIGDFLP LKAELDTTYT FLKETFINTV PHALTSSHSS PVTMSANANR
     PTQIGL
//