CCD17_HUMAN
ID CCD17_HUMAN Reviewed; 622 AA.
AC Q96LX7; A1A4Y7; B4DNX7; B4E1Q5; C9J8L2; Q0P683; Q5T629;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 10-AUG-2010, sequence version 2.
DT 03-AUG-2022, entry version 123.
DE RecName: Full=Coiled-coil domain-containing protein 17;
GN Name=CCDC17;
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] (ISOFORMS 1 AND 2), AND VARIANTS
RP LEU-353 AND ASN-580.
RC TISSUE=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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), AND VARIANT
RP ASN-580.
RC TISSUE=Brain;
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 Q96LX7; Q08379: GOLGA2; NbExp=3; IntAct=EBI-719840, EBI-618309;
CC Q96LX7; Q15323: KRT31; NbExp=3; IntAct=EBI-719840, EBI-948001;
CC Q96LX7; Q5JR59: MTUS2; NbExp=3; IntAct=EBI-719840, EBI-742948;
CC Q96LX7-5; P54252: ATXN3; NbExp=3; IntAct=EBI-12165781, EBI-946046;
CC Q96LX7-5; O75934: BCAS2; NbExp=3; IntAct=EBI-12165781, EBI-1050106;
CC Q96LX7-5; Q86T90: KIAA1328; NbExp=3; IntAct=EBI-12165781, EBI-3437878;
CC Q96LX7-5; O60333-2: KIF1B; NbExp=3; IntAct=EBI-12165781, EBI-10975473;
CC Q96LX7-5; P08779: KRT16; NbExp=3; IntAct=EBI-12165781, EBI-356410;
CC Q96LX7-5; Q3LI72: KRTAP19-5; NbExp=3; IntAct=EBI-12165781, EBI-1048945;
CC Q96LX7-5; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-12165781, EBI-11962084;
CC Q96LX7-5; Q8IUC2: KRTAP8-1; NbExp=3; IntAct=EBI-12165781, EBI-10261141;
CC Q96LX7-5; O15049: N4BP3; NbExp=3; IntAct=EBI-12165781, EBI-2512055;
CC Q96LX7-5; I6L9F6: NEFL; NbExp=3; IntAct=EBI-12165781, EBI-10178578;
CC Q96LX7-5; P60891: PRPS1; NbExp=3; IntAct=EBI-12165781, EBI-749195;
CC Q96LX7-5; O76024: WFS1; NbExp=3; IntAct=EBI-12165781, EBI-720609;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q96LX7-4; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96LX7-5; Sequence=VSP_039653;
CC Name=3;
CC IsoId=Q96LX7-2; Sequence=VSP_039651;
CC Name=4;
CC IsoId=Q96LX7-3; Sequence=VSP_039652;
CC -!- MISCELLANEOUS: [Isoform 3]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB71539.1; Type=Miscellaneous discrepancy; Note=Incompletely spliced mRNA.; Evidence={ECO:0000305};
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DR EMBL; AK057646; BAB71539.1; ALT_SEQ; mRNA.
DR EMBL; AK298104; BAG60389.1; -; mRNA.
DR EMBL; AK303939; BAG64867.1; -; mRNA.
DR EMBL; AL355480; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC029888; AAH29888.1; -; mRNA.
DR EMBL; BC128177; AAI28178.1; -; mRNA.
DR EMBL; BC128178; AAI28179.2; -; mRNA.
DR CCDS; CCDS44131.2; -. [Q96LX7-4]
DR CCDS; CCDS53314.1; -. [Q96LX7-5]
DR RefSeq; NP_001108410.2; NM_001114938.2. [Q96LX7-4]
DR RefSeq; NP_001177111.1; NM_001190182.1. [Q96LX7-5]
DR AlphaFoldDB; Q96LX7; -.
DR SMR; Q96LX7; -.
DR BioGRID; 127219; 11.
DR IntAct; Q96LX7; 19.
DR STRING; 9606.ENSP00000432172; -.
DR CarbonylDB; Q96LX7; -.
DR iPTMnet; Q96LX7; -.
DR PhosphoSitePlus; Q96LX7; -.
DR BioMuta; CCDC17; -.
DR DMDM; 302393684; -.
DR EPD; Q96LX7; -.
DR MassIVE; Q96LX7; -.
DR MaxQB; Q96LX7; -.
DR PaxDb; Q96LX7; -.
DR PeptideAtlas; Q96LX7; -.
DR PRIDE; Q96LX7; -.
DR Antibodypedia; 51288; 116 antibodies from 18 providers.
DR DNASU; 149483; -.
DR Ensembl; ENST00000421127.6; ENSP00000389415.2; ENSG00000159588.15. [Q96LX7-5]
DR Ensembl; ENST00000445048.2; ENSP00000411335.2; ENSG00000159588.15. [Q96LX7-3]
DR Ensembl; ENST00000528266.6; ENSP00000432172.1; ENSG00000159588.15. [Q96LX7-4]
DR GeneID; 149483; -.
DR KEGG; hsa:149483; -.
DR MANE-Select; ENST00000528266.6; ENSP00000432172.1; NM_001114938.3; NP_001108410.2.
DR UCSC; uc009vxz.4; human. [Q96LX7-4]
DR CTD; 149483; -.
DR DisGeNET; 149483; -.
DR GeneCards; CCDC17; -.
DR HGNC; HGNC:26574; CCDC17.
DR HPA; ENSG00000159588; Tissue enriched (fallopian).
DR neXtProt; NX_Q96LX7; -.
DR OpenTargets; ENSG00000159588; -.
DR VEuPathDB; HostDB:ENSG00000159588; -.
DR eggNOG; ENOG502QR6M; Eukaryota.
DR GeneTree; ENSGT00390000006459; -.
DR HOGENOM; CLU_040615_0_0_1; -.
DR InParanoid; Q96LX7; -.
DR OMA; RFCIGHL; -.
DR OrthoDB; 789769at2759; -.
DR PhylomeDB; Q96LX7; -.
DR TreeFam; TF335390; -.
DR PathwayCommons; Q96LX7; -.
DR SignaLink; Q96LX7; -.
DR BioGRID-ORCS; 149483; 15 hits in 1075 CRISPR screens.
DR GenomeRNAi; 149483; -.
DR Pharos; Q96LX7; Tdark.
DR PRO; PR:Q96LX7; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q96LX7; protein.
DR Bgee; ENSG00000159588; Expressed in right uterine tube and 102 other tissues.
DR ExpressionAtlas; Q96LX7; baseline and differential.
DR Genevisible; Q96LX7; HS.
DR InterPro; IPR038800; CCDC17.
DR PANTHER; PTHR33820; PTHR33820; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..622
FT /note="Coiled-coil domain-containing protein 17"
FT /id="PRO_0000302852"
FT REGION 334..356
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 584..622
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 81..102
FT /evidence="ECO:0000255"
FT COILED 146..207
FT /evidence="ECO:0000255"
FT COILED 294..320
FT /evidence="ECO:0000255"
FT COMPBIAS 341..356
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 597..612
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..179
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_039651"
FT VAR_SEQ 60..571
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_039652"
FT VAR_SEQ 91..99
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039653"
FT VARIANT 353
FT /note="P -> L (in dbSNP:rs3014242)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_034976"
FT VARIANT 470
FT /note="V -> I (in dbSNP:rs17410855)"
FT /id="VAR_059599"
FT VARIANT 557
FT /note="I -> V (in dbSNP:rs2297654)"
FT /id="VAR_034977"
FT VARIANT 580
FT /note="S -> N (in dbSNP:rs3014246)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_063516"
FT CONFLICT 41
FT /note="E -> V (in Ref. 1; BAB71539)"
FT /evidence="ECO:0000305"
FT CONFLICT 74
FT /note="L -> P (in Ref. 1; BAG64867)"
FT /evidence="ECO:0000305"
FT CONFLICT 417
FT /note="L -> E (in Ref. 3; AAH29888)"
FT /evidence="ECO:0000305"
FT CONFLICT 420..421
FT /note="GL -> AS (in Ref. 3; AAH29888)"
FT /evidence="ECO:0000305"
FT CONFLICT 423..425
FT /note="RDG -> HAA (in Ref. 3; AAH29888)"
FT /evidence="ECO:0000305"
FT CONFLICT 439
FT /note="C -> F (in Ref. 3; AAH29888)"
FT /evidence="ECO:0000305"
FT CONFLICT 450
FT /note="G -> S (in Ref. 3; AAH29888)"
FT /evidence="ECO:0000305"
FT CONFLICT 615
FT /note="S -> F (in Ref. 3; AAH29888)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 622 AA; 67721 MW; A48A40C2229C37E0 CRC64;
MDSHSGEPAL LPCGTCDMVF RSSALLATHT QRFCIGHPTQ EMTFGAQASV ATEPQRAAVV
PQEHQGVPQE PQGLPDQQAS RSALKRLTEE VQWLRLSLQE MRPWITEVPR VFAGPWTRSE
ARPQSPMSEA VGSPSERLRA LFRTRARRVA EMEAQSRALQ LRGEELSRRL QVVACTRGGM
SRLFGLEQEI RELQAEAGRT RGALEVLGAR IQELQAEPGN PLSSRREAEL YSPVQKANPG
TLAAEIRALR EAYIRDGGRD PGVLGQIWQL QVEASALELQ RSQTRRGRAG ATSGELPVVE
AENRRLEAEI LALQMQRGRA PLGPQDLRLL GDASLQPKGR RDPPLLPPPV APPLPPLPGF
SEPQLPGTMT RNLGLDSHFL LPTSDMLGPA PYDPGAGLVI FYDFLRGLEA SWIWVQLRTG
LARDGRDTGR TTALPPALCL PPPPAPGPMG NCAILASRQP VPRLPPSSSV SLVCELQVWQ
GLAWARAPQP KAWVSLGLFD QDQRVLSGRW RLPLRALPLD PSLSLGQLNG IPQAGQAELF
LRLVNARDAA VQTLAEINPA SVHEYQYPPP VSSTSSLEAS FLTPAVGFAD PPPRTEEPLS
GVKDRDEGLG PHHSSDLPPV SF
