C295L_HUMAN
ID C295L_HUMAN Reviewed; 621 AA.
AC Q96MC4;
DT 01-MAY-2013, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=CEP295 N-terminal-like protein {ECO:0000305};
DE AltName: Full=KIAA1731 N-terminal like protein {ECO:0000312|HGNC:HGNC:44659};
GN Name=CEP295NL {ECO:0000312|HGNC:HGNC:44659};
GN Synonyms=KIAA1731NL {ECO:0000312|HGNC:HGNC:44659};
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].
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250}.
CC Note=Colocalizes to the motile cilium of mature spermatozoa.
CC {ECO:0000250}.
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DR EMBL; AK057217; BAB71383.1; -; mRNA.
DR EMBL; AC022966; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC100788; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS58603.1; -.
DR RefSeq; NP_001230469.1; NM_001243540.1.
DR RefSeq; NP_001230470.1; NM_001243541.1.
DR AlphaFoldDB; Q96MC4; -.
DR SMR; Q96MC4; -.
DR BioGRID; 1530759; 4.
DR IntAct; Q96MC4; 2.
DR STRING; 9606.ENSP00000312767; -.
DR GlyGen; Q96MC4; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96MC4; -.
DR PhosphoSitePlus; Q96MC4; -.
DR BioMuta; CEP295NL; -.
DR DMDM; 74732346; -.
DR jPOST; Q96MC4; -.
DR MassIVE; Q96MC4; -.
DR PaxDb; Q96MC4; -.
DR PeptideAtlas; Q96MC4; -.
DR PRIDE; Q96MC4; -.
DR Antibodypedia; 32615; 16 antibodies from 6 providers.
DR DNASU; 100653515; -.
DR Ensembl; ENST00000322630.3; ENSP00000312767.2; ENSG00000178404.10.
DR Ensembl; ENST00000619342.1; ENSP00000483863.1; ENSG00000178404.10.
DR GeneID; 100653515; -.
DR KEGG; hsa:100653515; -.
DR MANE-Select; ENST00000322630.3; ENSP00000312767.2; NM_001243540.2; NP_001230469.1.
DR UCSC; uc002jwg.3; human.
DR CTD; 100653515; -.
DR DisGeNET; 100653515; -.
DR GeneCards; CEP295NL; -.
DR HGNC; HGNC:44659; CEP295NL.
DR HPA; ENSG00000178404; Group enriched (brain, testis).
DR neXtProt; NX_Q96MC4; -.
DR OpenTargets; ENSG00000178404; -.
DR VEuPathDB; HostDB:ENSG00000178404; -.
DR eggNOG; ENOG502QSZR; Eukaryota.
DR GeneTree; ENSGT00940000153123; -.
DR HOGENOM; CLU_447551_0_0_1; -.
DR InParanoid; Q96MC4; -.
DR OMA; WHSQMIR; -.
DR OrthoDB; 97863at2759; -.
DR PhylomeDB; Q96MC4; -.
DR TreeFam; TF331536; -.
DR PathwayCommons; Q96MC4; -.
DR SignaLink; Q96MC4; -.
DR BioGRID-ORCS; 100653515; 13 hits in 993 CRISPR screens.
DR GenomeRNAi; 100653515; -.
DR Pharos; Q96MC4; Tdark.
DR PRO; PR:Q96MC4; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q96MC4; protein.
DR Bgee; ENSG00000178404; Expressed in sural nerve and 95 other tissues.
DR ExpressionAtlas; Q96MC4; baseline and differential.
DR GO; GO:0005814; C:centriole; IBA:GO_Central.
DR GO; GO:0005813; C:centrosome; IBA:GO_Central.
DR GO; GO:0005929; C:cilium; IEA:UniProtKB-SubCell.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR GO; GO:0008017; F:microtubule binding; IBA:GO_Central.
DR GO; GO:0046599; P:regulation of centriole replication; IBA:GO_Central.
PE 2: Evidence at transcript level;
KW Cell projection; Cilium; Coiled coil; Reference proteome.
FT CHAIN 1..621
FT /note="CEP295 N-terminal-like protein"
FT /id="PRO_0000422183"
FT REGION 142..253
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 385..421
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 491..529
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 543..586
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 328..359
FT /evidence="ECO:0000255"
FT COILED 498..525
FT /evidence="ECO:0000255"
FT COMPBIAS 167..198
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 199..213
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 505..529
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 543..566
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 567..582
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 621 AA; 69839 MW; A388BC29EC45F287 CRC64;
MCSGWSSSVI WRHTQFAVER CGFCGSSGPG APLEPSTLGS KHLPWEAVSA GFADRNRNMD
GAMWLSLCPD NEDLLWRKKH KLLQARGKGD LALQRRADAK LWKNYQLQRL AEELRRGYQE
AQHLHVGGLD RLQSARLLGW GGGRARENEP DSQGPIQRRS ARPPRAKEKH RAALSEERSC
REELGQQHPR HSRPRKTAAS PEKPQTTKAT GRMNSHLAPP EKRKGRPEPS TKSGGGRCAI
HPRRSKGADL ERSNPLVAAV GEIGLVEEKE KGTARAGRRQ LGKGAVCFVP ALTSRSQGQS
LEGKLRDLGQ LWPADSSCRR EAVSPASQCT LREKNKWQKE LELAFEELFN INRKLKKHLC
LYLALKPRMD QRPGEGHAFS EMQECGAGTP RGKKMADPEM LPAGEPRSPA EEEAQQAASK
TDLKTFMGKA QNQKYQGTVK PTFRNGSQTL SPEAGIFINK EDSLLYSTES GQETPKLGTL
AEGSLQLHLQ DQADRVGSTA SRQRQKAEME QRRQKQLESL EQMEHPDMSL EIHYKAELEK
ERREQRRARL AHLKSSSTRA QERERGSELS TTSPSGTSLA DDDRHSQMIR DQQQQILQQN
RLHKQFLEEA RKCLREFQNI C
