Q9UPV0 (CE164_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Centrosomal protein of 164 kDa
Short name=Cep164

Gene names

Name:	CEP164
Synonyms:	KIAA1052, NPHP15

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1460 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1. Ref.1 Ref.2
Subunit structure	Interacts (via N-terminus) with ATRIP. Interacts with ATM, ATR and MDC1. Interacts with XPA (via N-terminus) upon UV irradiation. Interacts with CCDC92, TTBK2, DVL3, NPHP3 and weakly with NPHP4. Ref.2 Ref.9 Ref.10
Subcellular location	Cytoplasm › cytoskeleton › centrosome › centriole. Nucleus. Note: Localizes specifically to very distally located appendage structures on the mature centriole from which initiate PC formation. Persisted at centrioles throughout mitosis. Expressed in chromatin-enriched nuclear fraction of HeLa cells. In response to DNA damage, it translocates to nuclear foci that contain the DNA damage response proteins KAT5/TIP60 and CHEK1. Ref.1 Ref.2 Ref.8 Ref.9 Ref.10
Tissue specificity	Expressed in several cell lines. Ref.1
Post-translational modification	Phosphorylation at Ser-186 is induced upon DNA-damage caused by treatment with IR irradiation, UV irradiation, hydroxyurea or amphidicolin. Also MDC1-mediated chromatin remodeling is critical for DNA damage-induced phosphorylation.
Involvement in disease	Nephronophthisis 15 (NPHP15) [MIM:614845]: An autosomal recessive disorder characterized by the association of nephronophthisis with Leber congenital amaurosis and retinal degeneration, often resulting in blindness during childhood. Additional features include seizures, cerebellar vermis hypoplasia, facial dysmorphism, bronchiectasis and liver failure. Nephronophthisis is a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Note: The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarities	Contains 1 WW domain.
Sequence caution	The sequence AAH00602.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence AAH54015.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence BAA83004.2 differs from that shown. Reason: Erroneous initiation. The sequence BAA91677.1 differs from that shown. Reason: Erroneous initiation. The sequence CAB56023.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Cell cycle Cell division Cilium biogenesis/degradation DNA damage DNA repair Mitosis
Cellular component	Cytoplasm Cytoskeleton Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Ciliopathy Disease mutation Nephronophthisis
Domain	Coiled coil
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA repair Inferred from electronic annotation. Source: UniProtKB-KW G2/M transition of mitotic cell cycle Traceable author statement. Source: Reactome cell division Inferred from electronic annotation. Source: UniProtKB-KW cilium assembly Inferred from mutant phenotype Ref.1. Source: UniProtKB mitosis Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	centriole Inferred from electronic annotation. Source: UniProtKB-SubCell centrosome Inferred from direct assay PubMed 21399614. Source: UniProtKB cytosol Traceable author statement. Source: Reactome nucleus Inferred from direct assay. Source: HPA
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CCDC92	Q53HC0	5	EBI-3937015,EBI-719994
DVL3	Q92997	5	EBI-3937015,EBI-739789
NPHP3	Q7Z494	2	EBI-3937015,EBI-2804263
TTBK2	Q6IQ55	4	EBI-3937015,EBI-1050303

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9UPV0-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9UPV0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     469-469: E → ERYH
     1242-1250: REWWRQQRI → L

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1460	1460	Centrosomal protein of 164 kDa		PRO_0000312494
Regions
	Domain	56 – 89	34	WW
	Region	1 – 194	194	Interaction with ATRIP
	Coiled coil	1154 – 1206	53	Potential
	Compositional bias	110 – 122	13	Lys-rich
	Compositional bias	468 – 955	488	Glu-rich
Amino acid modifications
	Modified residue	186	1	Phosphoserine; by ATR and ATM Ref.2
Natural variations
	Alternative sequence	469	1	E → ERYH in isoform 2.		VSP_029843
	Alternative sequence	1242 – 1250	9	REWWRQQRI → L in isoform 2.		VSP_029844
	Natural variant	11	1	Q → P Probable disease-associated mutation found in patients with nephronophthisis and retinal degeneration. Ref.10		VAR_068503
	Natural variant	93	1	R → W Probable disease-associated mutation found in patients with nephronophthisis and retinal degeneration or Leber congenital amaurosis. Ref.10		VAR_068504
	Natural variant	94	1	S → N. Corresponds to variant rs490262 [ dbSNP | Ensembl ].		VAR_037511
	Natural variant	988	1	T → S. Ref.6 Corresponds to variant rs2305830 [ dbSNP | Ensembl ].		VAR_037512
	Natural variant	1119	1	Q → R. Ref.6 Ref.7 Corresponds to variant rs573455 [ dbSNP | Ensembl ].		VAR_037513
Experimental info
	Mutagenesis	186	1	S → A: Prevents phosphorylation. Ref.2
	Sequence conflict	110	1	K → N in AAH54015. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 4, 2007. Version 3. Checksum: 7A4F91E1CB7D1E43	FASTA	1,460	164,314
	10 20 30 40 50 60 MAGRPLRIGD QLVLEEDYDE TYIPSEQEIL EFAREIGIDP IKEPELMWLA REGIVAPLPG 70 80 90 100 110 120 EWKPCQDITG DIYYFNFANG QSMWDHPCDE HYRSLVIQER AKLSTSGAIK KKKKKKEKKD 130 140 150 160 170 180 KKDRDPPKSS LALGSSLAPV HVPLGGLAPL RGLVDTPPSA LRGSQSVSLG SSVESGRQLG 190 200 210 220 230 240 ELMLPSQGLK TSAYTKGLLG SIYEDKTALS LLGLGEETNE EDEEESDNQS VHSSSEPLRN 250 260 270 280 290 300 LHLDIGALGG DFEYEESLRT SQPEEKKDVS LDSDAAGPPT PCKPSSPGAD SSLSSAVGKG 310 320 330 340 350 360 RQGSGARPGL PEKEENEKSE PKICRNLVTP KADPTGSEPA KASEKEAPED TVDAGEEGSR 370 380 390 400 410 420 REEAAKEPKK KASALEEGSS DASQELEISE HMKEPQLSDS IASDPKSFHG LDFGFRSRIS 430 440 450 460 470 480 EHLLDVDVLS PVLGGACRQA QQPLGIEDKD DSQSSQDELQ SKQSKGLEER LSPPLPHEER 490 500 510 520 530 540 AQSPPRSLAT EEEPPQGPEG QPEWKEAEEL GEDSAASLSL QLSLQREQAP SPPAACEKGK 550 560 570 580 590 600 EQHSQAEELG PGQEEAEDPE EKVAVSPTPP VSPEVRSTEP VAPPEQLSEA ALKAMEEAVA 610 620 630 640 650 660 QVLEQDQRHL LESKQEKMQQ LREKLCQEEE EEILRLHQQK EQSLSSLRER LQKAIEEEEA 670 680 690 700 710 720 RMREEESQRL SWLRAQVQSS TQADEDQIRA EQEASLQKLR EELESQQKAE RASLEQKNRQ 730 740 750 760 770 780 MLEQLKEEIE ASEKSEQAAL NAAKEKALQQ LREQLEGERK EAVATLEKEH SAELERLCSS 790 800 810 820 830 840 LEAKHREVVS SLQKKIQEAQ QKEEAQLQKC LGQVEHRVHQ KSYHVAGYEH ELSSLLREKR 850 860 870 880 890 900 QEVEGEHERR LDKMKEEHQQ VMAKAREQYE AEERKQRAEL LGHLTGELER LQRAHERELE 910 920 930 940 950 960 TVRQEQHKRL EDLRRRHREQ ERKLQDLELD LETRAKDVKA RLALLEVQEE TARREKQQLL 970 980 990 1000 1010 1020 DVQRQVALKS EEATATHQQL EEAQKEHTHL LQSNQQLREI LDELQARKLK LESQVDLLQA 1030 1040 1050 1060 1070 1080 QSQQLQKHFS SLEAEAQKKQ HLLREVTVEE NNASPHFEPD LHIEDLRKSL GTNQTKEVSS 1090 1100 1110 1120 1130 1140 SLSQSKEDLY LDSLSSHNVW HLLSAEGVAL RSAKEFLVQQ TRSMRRRQTA LKAAQQHWRH 1150 1160 1170 1180 1190 1200 ELASAQEVAK DPPGIKALED MRKNLEKETR HLDEMKSAMR KGHNLLKKKE EKLNQLESSL 1210 1220 1230 1240 1250 1260 WEEASDEGTL GGSPTKKAVT FDLSDMDSLS SESSESFSPP HREWWRQQRI DSTPSLTSRK 1270 1280 1290 1300 1310 1320 IHGLSHSLRQ ISSQLSSVLS ILDSLNPQSP PPLLASMPAQ LPPRDPKSTP TPTYYGSLAR 1330 1340 1350 1360 1370 1380 FSALSSATPT STQWAWDSGQ GPRLPSSVAQ TVDDFLLEKW RKYFPSGIPL LSNSPTPLES 1390 1400 1410 1420 1430 1440 RLGYMSASEQ LRLLQHSHSQ VPEAGSTTFQ GIIEANRRWL ERVKNDPRLP LFSSTPKPKA 1450 1460 TLSLLQLGLD EHNRVKVYRF
	Isoform 2 [UniParc]. Checksum: 7F48093100C34819	FASTA	1,455	163,544
	10 20 30 40 50 60 MAGRPLRIGD QLVLEEDYDE TYIPSEQEIL EFAREIGIDP IKEPELMWLA REGIVAPLPG 70 80 90 100 110 120 EWKPCQDITG DIYYFNFANG QSMWDHPCDE HYRSLVIQER AKLSTSGAIK KKKKKKEKKD 130 140 150 160 170 180 KKDRDPPKSS LALGSSLAPV HVPLGGLAPL RGLVDTPPSA LRGSQSVSLG SSVESGRQLG 190 200 210 220 230 240 ELMLPSQGLK TSAYTKGLLG SIYEDKTALS LLGLGEETNE EDEEESDNQS VHSSSEPLRN 250 260 270 280 290 300 LHLDIGALGG DFEYEESLRT SQPEEKKDVS LDSDAAGPPT PCKPSSPGAD SSLSSAVGKG 310 320 330 340 350 360 RQGSGARPGL PEKEENEKSE PKICRNLVTP KADPTGSEPA KASEKEAPED TVDAGEEGSR 370 380 390 400 410 420 REEAAKEPKK KASALEEGSS DASQELEISE HMKEPQLSDS IASDPKSFHG LDFGFRSRIS 430 440 450 460 470 480 EHLLDVDVLS PVLGGACRQA QQPLGIEDKD DSQSSQDELQ SKQSKGLEER YHRLSPPLPH 490 500 510 520 530 540 EERAQSPPRS LATEEEPPQG PEGQPEWKEA EELGEDSAAS LSLQLSLQRE QAPSPPAACE 550 560 570 580 590 600 KGKEQHSQAE ELGPGQEEAE DPEEKVAVSP TPPVSPEVRS TEPVAPPEQL SEAALKAMEE 610 620 630 640 650 660 AVAQVLEQDQ RHLLESKQEK MQQLREKLCQ EEEEEILRLH QQKEQSLSSL RERLQKAIEE 670 680 690 700 710 720 EEARMREEES QRLSWLRAQV QSSTQADEDQ IRAEQEASLQ KLREELESQQ KAERASLEQK 730 740 750 760 770 780 NRQMLEQLKE EIEASEKSEQ AALNAAKEKA LQQLREQLEG ERKEAVATLE KEHSAELERL 790 800 810 820 830 840 CSSLEAKHRE VVSSLQKKIQ EAQQKEEAQL QKCLGQVEHR VHQKSYHVAG YEHELSSLLR 850 860 870 880 890 900 EKRQEVEGEH ERRLDKMKEE HQQVMAKARE QYEAEERKQR AELLGHLTGE LERLQRAHER 910 920 930 940 950 960 ELETVRQEQH KRLEDLRRRH REQERKLQDL ELDLETRAKD VKARLALLEV QEETARREKQ 970 980 990 1000 1010 1020 QLLDVQRQVA LKSEEATATH QQLEEAQKEH THLLQSNQQL REILDELQAR KLKLESQVDL 1030 1040 1050 1060 1070 1080 LQAQSQQLQK HFSSLEAEAQ KKQHLLREVT VEENNASPHF EPDLHIEDLR KSLGTNQTKE 1090 1100 1110 1120 1130 1140 VSSSLSQSKE DLYLDSLSSH NVWHLLSAEG VALRSAKEFL VQQTRSMRRR QTALKAAQQH 1150 1160 1170 1180 1190 1200 WRHELASAQE VAKDPPGIKA LEDMRKNLEK ETRHLDEMKS AMRKGHNLLK KKEEKLNQLE 1210 1220 1230 1240 1250 1260 SSLWEEASDE GTLGGSPTKK AVTFDLSDMD SLSSESSESF SPPHLDSTPS LTSRKIHGLS 1270 1280 1290 1300 1310 1320 HSLRQISSQL SSVLSILDSL NPQSPPPLLA SMPAQLPPRD PKSTPTPTYY GSLARFSALS 1330 1340 1350 1360 1370 1380 SATPTSTQWA WDSGQGPRLP SSVAQTVDDF LLEKWRKYFP SGIPLLSNSP TPLESRLGYM 1390 1400 1410 1420 1430 1440 SASEQLRLLQ HSHSQVPEAG STTFQGIIEA NRRWLERVKN DPRLPLFSST PKPKATLSLL 1450 QLGLDEHNRV KVYRF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cep164, a novel centriole appendage protein required for primary cilium formation." Graser S., Stierhof Y.-D., Lavoie S.B., Gassner O.S., Lamla S., Le Clech M., Nigg E.A. J. Cell Biol. 179:321-330(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[2]	"Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1." Sivasubramaniam S., Sun X., Pan Y.R., Wang S., Lee E.Y. Genes Dev. 22:587-600(2008) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, INTERACTION WITH ATM; ATR; ATRIP AND MDC1, SUBCELLULAR LOCATION, PHOSPHORYLATION AT SER-186, MUTAGENESIS OF SER-186.
[3]	"Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Kikuno R., Nagase T., Ishikawa K., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 6:197-205(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain.
[4]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-116 (ISOFORMS 1/2). Tissue: Skin.
[6]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 868-1460 (ISOFORM 1), VARIANTS SER-988 AND ARG-1119. Tissue: Testis.
[7]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1038-1460 (ISOFORM 1), VARIANT ARG-1119. Tissue: Testis.
[8]	"Proteomic characterization of the human centrosome by protein correlation profiling." Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M. Nature 426:570-574(2003) [PubMed] [Europe PMC] [Abstract] Cited for: MASS SPECTROMETRY, SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]. Tissue: Lymphoblast.
[9]	"UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity." Pan Y.R., Lee E.Y. Cell Cycle 8:655-664(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH XPA, SUBCELLULAR LOCATION.
[10]	"Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling." Chaki M., Airik R., Ghosh A.K., Giles R.H., Chen R., Slaats G.G., Wang H., Hurd T.W., Zhou W., Cluckey A., Gee H.Y., Ramaswami G., Hong C.J., Hamilton B.A., Cervenka I., Ganji R.S., Bryja V., Arts H.H. , van Reeuwijk J., Oud M.M., Letteboer S.J., Roepman R., Husson H., Ibraghimov-Beskrovnaya O., Yasunaga T., Walz G., Eley L., Sayer J.A., Schermer B., Liebau M.C., Benzing T., Le Corre S., Drummond I., Janssen S., Allen S.J., Natarajan S., O'Toole J.F., Attanasio M., Saunier S., Antignac C., Koenekoop R.K., Ren H., Lopez I., Nayir A., Stoetzel C., Dollfus H., Massoudi R., Gleeson J.G., Andreoli S.P., Doherty D.G., Lindstrad A., Golzio C., Katsanis N., Pape L., Abboud E.B., Al-Rajhi A.A., Lewis R.A., Omran H., Lee E.Y., Wang S., Sekiguchi J.M., Saunders R., Johnson C.A., Garner E., Vanselow K., Andersen J.S., Shlomai J., Nurnberg G., Nurnberg P., Levy S., Smogorzewska A., Otto E.A., Hildebrandt F. Cell 150:533-548(2012) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, INTERACTION WITH CCDC92; TTBK2; NPHP3; NPHP4 AND DVL3, INVOLVEMENT IN NPHP-RC, VARIANTS PRO-11 AND TRP-93.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB028975 mRNA. Translation: BAA83004.2. Different initiation. AP000892 Genomic DNA. No translation available. AP001822 Genomic DNA. No translation available. BC000602 mRNA. Translation: AAH00602.1. Sequence problems. BC054015 mRNA. Translation: AAH54015.1. Sequence problems. AL117632 mRNA. Translation: CAB56023.1. Different initiation. AK001412 mRNA. Translation: BAA91677.1. Different initiation.
IPI	IPI00007293. IPI00876967.
PIR	T17333.
RefSeq	NP_001258862.1. NM_001271933.1. NP_055771.4. NM_014956.4.
UniGene	Hs.504009.
3D structure databases
ProteinModelPortal	Q9UPV0.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UPV0. 10 interactions.
STRING	9606.ENSP00000278935.
PTM databases
PhosphoSite	Q9UPV0.
Polymorphism databases
DMDM	162416241.
Proteomic databases
PaxDb	Q9UPV0.
PRIDE	Q9UPV0.
Protocols and materials databases
DNASU	22897.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000278935; ENSP00000278935; ENSG00000110274.
GeneID	22897.
KEGG	hsa:22897.
UCSC	uc001prb.3. human. uc001prc.3. human.
Organism-specific databases
CTD	22897.
GeneCards	GC11P117198.
H-InvDB	HIX0010166.
HGNC	HGNC:29182. CEP164.
HPA	HPA037605. HPA037606.
MIM	614845. phenotype. 614848. gene.
neXtProt	NX_Q9UPV0.
PharmGKB	PA142672127.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG73730.
HOGENOM	HOG000111523.
HOVERGEN	HBG065113.
InParanoid	Q9UPV0.
KO	K16462.
OMA	DFEYEES.
OrthoDB	EOG47WNMV.
Enzyme and pathway databases
Reactome	REACT_115566. Cell Cycle.
Gene expression databases
ArrayExpress	Q9UPV0.
Bgee	Q9UPV0.
CleanEx	HS_CEP164.
Genevestigator	Q9UPV0.
Family and domain databases
InterPro	IPR001202. WW_dom. [Graphical view]
SMART	SM00456. WW. 1 hit. [Graphical view]
SUPFAM	SSF51045. WW_Rsp5_WWP. 1 hit.
PROSITE	PS01159. WW_DOMAIN_1. False negative. PS50020. WW_DOMAIN_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	22897.
NextBio	43519.
SOURCE	Search...

Entry information

Entry name

CE164_HUMAN

Accession

Primary (citable) accession number: Q9UPV0
Secondary accession number(s): Q6PKH9 , Q7Z2X9, Q9NVS0, Q9UFJ6

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 4, 2007
Last sequence update:	December 4, 2007
Last modified:	May 1, 2013
This is version 88 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.