CF20D_HUMAN
ID CF20D_HUMAN Reviewed; 689 AA.
AC Q6ZVT6; B9EKV6; Q6ZV69;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 115.
DE RecName: Full=Protein CFAP20DC {ECO:0000305};
DE AltName: Full=Uncharacterized protein C3orf67;
GN Name=CFAP20DC {ECO:0000312|HGNC:HGNC:24763}; Synonyms=C3orf67;
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 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 168-689 (ISOFORM 1).
RC TISSUE=Substantia nigra, and 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=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=2;
CC Name=1;
CC IsoId=Q6ZVT6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZVT6-2; Sequence=VSP_030913;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC85994.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK124111; BAC85775.1; -; mRNA.
DR EMBL; AK124920; BAC85994.1; ALT_INIT; mRNA.
DR EMBL; AC104300; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471055; EAW65384.1; -; Genomic_DNA.
DR EMBL; BC132815; AAI32816.1; -; mRNA.
DR EMBL; BC151142; AAI51143.1; -; mRNA.
DR CCDS; CCDS33776.1; -. [Q6ZVT6-2]
DR RefSeq; NP_940865.1; NM_198463.2. [Q6ZVT6-2]
DR RefSeq; XP_011531758.1; XM_011533456.1. [Q6ZVT6-1]
DR RefSeq; XP_011531759.1; XM_011533457.1. [Q6ZVT6-1]
DR RefSeq; XP_011531760.1; XM_011533458.2. [Q6ZVT6-1]
DR AlphaFoldDB; Q6ZVT6; -.
DR BioGRID; 128349; 3.
DR IntAct; Q6ZVT6; 1.
DR iPTMnet; Q6ZVT6; -.
DR PhosphoSitePlus; Q6ZVT6; -.
DR BioMuta; C3orf67; -.
DR DMDM; 167006542; -.
DR PaxDb; Q6ZVT6; -.
DR PRIDE; Q6ZVT6; -.
DR ProteomicsDB; 68442; -. [Q6ZVT6-1]
DR ProteomicsDB; 68443; -. [Q6ZVT6-2]
DR Antibodypedia; 46341; 21 antibodies from 9 providers.
DR DNASU; 200844; -.
DR Ensembl; ENST00000295966.11; ENSP00000295966.7; ENSG00000163689.21. [Q6ZVT6-2]
DR GeneID; 200844; -.
DR KEGG; hsa:200844; -.
DR UCSC; uc003dks.2; human. [Q6ZVT6-1]
DR CTD; 200844; -.
DR DisGeNET; 200844; -.
DR GeneCards; CFAP20DC; -.
DR HGNC; HGNC:24763; CFAP20DC.
DR HPA; ENSG00000163689; Group enriched (esophagus, testis).
DR neXtProt; NX_Q6ZVT6; -.
DR OpenTargets; ENSG00000163689; -.
DR VEuPathDB; HostDB:ENSG00000163689; -.
DR eggNOG; KOG3213; Eukaryota.
DR GeneTree; ENSGT00390000005497; -.
DR HOGENOM; CLU_017755_1_0_1; -.
DR InParanoid; Q6ZVT6; -.
DR OrthoDB; 1049570at2759; -.
DR PhylomeDB; Q6ZVT6; -.
DR TreeFam; TF331222; -.
DR PathwayCommons; Q6ZVT6; -.
DR SignaLink; Q6ZVT6; -.
DR BioGRID-ORCS; 200844; 11 hits in 1057 CRISPR screens.
DR ChiTaRS; C3orf67; human.
DR GenomeRNAi; 200844; -.
DR Pharos; Q6ZVT6; Tdark.
DR PRO; PR:Q6ZVT6; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q6ZVT6; protein.
DR Bgee; ENSG00000163689; Expressed in lower esophagus mucosa and 116 other tissues.
DR ExpressionAtlas; Q6ZVT6; baseline and differential.
DR Genevisible; Q6ZVT6; HS.
DR InterPro; IPR040441; CFA20/CFAP20DC.
DR InterPro; IPR007714; CFA20_dom.
DR InterPro; IPR030467; CFAP20DC.
DR PANTHER; PTHR12458; PTHR12458; 1.
DR PANTHER; PTHR12458:SF7; PTHR12458:SF7; 1.
DR Pfam; PF05018; DUF667; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..689
FT /note="Protein CFAP20DC"
FT /id="PRO_0000317180"
FT REGION 241..263
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 333..423
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 584..659
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 248..263
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 346..374
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 377..397
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 405..423
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 584..602
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 609..623
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 638..652
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 407..532
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_030913"
FT VARIANT 158
FT /note="S -> R (in dbSNP:rs13324082)"
FT /id="VAR_056772"
FT VARIANT 304
FT /note="D -> E (in dbSNP:rs35778488)"
FT /id="VAR_056773"
FT VARIANT 387
FT /note="V -> M (in dbSNP:rs34631714)"
FT /id="VAR_061575"
FT VARIANT 404
FT /note="S -> N (in dbSNP:rs34322986)"
FT /id="VAR_061576"
SQ SEQUENCE 689 AA; 76271 MW; 0CA8DEB6C9730DF8 CRC64;
MIKRKIWCNL CIDLVAFTSE IFKGAVFQSL DGIVVSANCK LRKIFTLKSK PQDTADKDAV
YGVPFSTDEP TDIIPRSCQL MTDVPHVTQL LNMTKLRQTE IKFGGHPLRS AESDQFINRG
TSITRNSKNQ DVCHIAFGSK VLGPPPLSGR RNNMKISSET VRSVGSKNNR SCQPSTVEKC
VNGTEMSALL IPESEEQGNK ENIHQIKQTV PIHAANLHIM HPHPPQEPSA DKNNNRRRLR
LKSTSRERTE TPSGSSSGNN RIEDKASTIL TTVSQQGAEL LNSGTLGPQS PDQSDEWIFP
ENADHISYLA SSRQSLLLGD DSCNPSHLWL EASKESEHDQ QAEESQSVPK DIFTFSSRPR
SAPHGKTQTM SPEELSFILD LKEDNSVTSR DTQSEDDFYG GDSSEEGNHS IQGSRGPTTG
PSELTQLTLE SLLGKAAKRT SKEYLRSAYT EAGATESQDS SMEQIDRNNF EMSLLPTTCL
SPTGRRCGSC QKTPEPVIKA KDLSAQQVPA SLNKTSLKEI SGERLSSIPE ASEYDWRNYQ
PSQMSESELQ MLASLRWQQN EELEDAGTSH GLSASQVDNC NVSISTSSDD TTTWNSCLPP
PVNQGRHYQK EMNPPSPSNP RDWLNMLSPP IVPPSQQPAE QRPDSCESLS VQGEEDLSVE
EDEEVLTLLY DPCLNCYFDP QTGKYYELV
