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Protein

Centrosomal protein of 164 kDa

Gene

CEP164

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 CHEK1.3 Publications

GO - Biological processi

Keywordsi

Biological processCell cycle, Cell division, Cilium biogenesis/degradation, DNA damage, DNA repair, Mitosis

Enzyme and pathway databases

ReactomeiR-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-8854518 AURKA Activation by TPX2

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 164 kDa
Short name:
Cep164
Gene namesi
Name:CEP164
Synonyms:KIAA1052, NPHP15
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000110274.14
HGNCiHGNC:29182 CEP164
MIMi614848 gene
neXtProtiNX_Q9UPV0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Nephronophthisis 15 (NPHP15)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:614845
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06850311Q → P in NPHP15. 1 PublicationCorresponds to variant dbSNP:rs387907309EnsemblClinVar.1
Natural variantiVAR_06850493R → W in NPHP15. 1 PublicationCorresponds to variant dbSNP:rs387907310EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi186S → A: Prevents phosphorylation. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation, Nephronophthisis

Organism-specific databases

DisGeNETi22897
MalaCardsiCEP164
MIMi614845 phenotype
OpenTargetsiENSG00000110274
Orphaneti3156 Senior-Loken syndrome
PharmGKBiPA142672127

Polymorphism and mutation databases

BioMutaiCEP164
DMDMi162416241

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003124941 – 1460Centrosomal protein of 164 kDaAdd BLAST1460

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei186Phosphoserine; by ATR and ATM1 Publication1
Modified residuei201PhosphoserineCombined sources1
Modified residuei566PhosphoserineCombined sources1
Modified residuei1386PhosphoserineCombined sources1
Modified residuei1388PhosphoserineCombined sources1
Modified residuei1443PhosphoserineCombined sources1

Post-translational modificationi

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.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UPV0
PaxDbiQ9UPV0
PeptideAtlasiQ9UPV0
PRIDEiQ9UPV0
ProteomicsDBi85453
85454 [Q9UPV0-2]

PTM databases

CarbonylDBiQ9UPV0
iPTMnetiQ9UPV0
PhosphoSitePlusiQ9UPV0

Expressioni

Tissue specificityi

Expressed in several cell lines.1 Publication

Gene expression databases

BgeeiENSG00000110274 Expressed in 205 organ(s), highest expression level in sperm
CleanExiHS_CEP164
ExpressionAtlasiQ9UPV0 baseline and differential
GenevisibleiQ9UPV0 HS

Organism-specific databases

HPAiHPA037605
HPA037606
HPA061504

Interactioni

Subunit structurei

Interacts (via N-terminus) with ATRIP. Interacts with ATM, ATR and MDC1. Interacts with XPA (via N-terminus) upon UV irradiation. Interacts with CEP83, CCDC92, TTBK2, DVL3, NPHP3 and weakly with NPHP4.4 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi116561, 89 interactors
CORUMiQ9UPV0
IntActiQ9UPV0, 73 interactors
STRINGi9606.ENSP00000278935

Structurei

3D structure databases

ProteinModelPortaliQ9UPV0
SMRiQ9UPV0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini56 – 89WWPROSITE-ProRule annotationAdd BLAST34

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 194Interaction with ATRIP1 PublicationAdd BLAST194

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1154 – 1206Sequence analysisAdd BLAST53

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi110 – 122Lys-richAdd BLAST13
Compositional biasi468 – 955Glu-richAdd BLAST488

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IJHV Eukaryota
ENOG4111VEQ LUCA
GeneTreeiENSGT00730000111178
HOGENOMiHOG000111523
HOVERGENiHBG065113
InParanoidiQ9UPV0
KOiK16462
OMAiQDRQLED
OrthoDBiEOG091G11U7
PhylomeDBiQ9UPV0
TreeFamiTF333034

Family and domain databases

CDDicd00201 WW, 1 hit
InterProiView protein in InterPro
IPR001202 WW_dom
IPR036020 WW_dom_sf
SMARTiView protein in SMART
SM00456 WW, 1 hit
SUPFAMiSSF51045 SSF51045, 1 hit
PROSITEiView protein in PROSITE
PS50020 WW_DOMAIN_2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UPV0-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MAGRPLRIGD QLVLEEDYDE TYIPSEQEIL EFAREIGIDP IKEPELMWLA
60 70 80 90 100
REGIVAPLPG EWKPCQDITG DIYYFNFANG QSMWDHPCDE HYRSLVIQER
110 120 130 140 150
AKLSTSGAIK KKKKKKEKKD KKDRDPPKSS LALGSSLAPV HVPLGGLAPL
160 170 180 190 200
RGLVDTPPSA LRGSQSVSLG SSVESGRQLG ELMLPSQGLK TSAYTKGLLG
210 220 230 240 250
SIYEDKTALS LLGLGEETNE EDEEESDNQS VHSSSEPLRN LHLDIGALGG
260 270 280 290 300
DFEYEESLRT SQPEEKKDVS LDSDAAGPPT PCKPSSPGAD SSLSSAVGKG
310 320 330 340 350
RQGSGARPGL PEKEENEKSE PKICRNLVTP KADPTGSEPA KASEKEAPED
360 370 380 390 400
TVDAGEEGSR REEAAKEPKK KASALEEGSS DASQELEISE HMKEPQLSDS
410 420 430 440 450
IASDPKSFHG LDFGFRSRIS EHLLDVDVLS PVLGGACRQA QQPLGIEDKD
460 470 480 490 500
DSQSSQDELQ SKQSKGLEER LSPPLPHEER AQSPPRSLAT EEEPPQGPEG
510 520 530 540 550
QPEWKEAEEL GEDSAASLSL QLSLQREQAP SPPAACEKGK EQHSQAEELG
560 570 580 590 600
PGQEEAEDPE EKVAVSPTPP VSPEVRSTEP VAPPEQLSEA ALKAMEEAVA
610 620 630 640 650
QVLEQDQRHL LESKQEKMQQ LREKLCQEEE EEILRLHQQK EQSLSSLRER
660 670 680 690 700
LQKAIEEEEA RMREEESQRL SWLRAQVQSS TQADEDQIRA EQEASLQKLR
710 720 730 740 750
EELESQQKAE RASLEQKNRQ MLEQLKEEIE ASEKSEQAAL NAAKEKALQQ
760 770 780 790 800
LREQLEGERK EAVATLEKEH SAELERLCSS LEAKHREVVS SLQKKIQEAQ
810 820 830 840 850
QKEEAQLQKC LGQVEHRVHQ KSYHVAGYEH ELSSLLREKR QEVEGEHERR
860 870 880 890 900
LDKMKEEHQQ VMAKAREQYE AEERKQRAEL LGHLTGELER LQRAHERELE
910 920 930 940 950
TVRQEQHKRL EDLRRRHREQ ERKLQDLELD LETRAKDVKA RLALLEVQEE
960 970 980 990 1000
TARREKQQLL DVQRQVALKS EEATATHQQL EEAQKEHTHL LQSNQQLREI
1010 1020 1030 1040 1050
LDELQARKLK LESQVDLLQA QSQQLQKHFS SLEAEAQKKQ HLLREVTVEE
1060 1070 1080 1090 1100
NNASPHFEPD LHIEDLRKSL GTNQTKEVSS SLSQSKEDLY LDSLSSHNVW
1110 1120 1130 1140 1150
HLLSAEGVAL RSAKEFLVQQ TRSMRRRQTA LKAAQQHWRH ELASAQEVAK
1160 1170 1180 1190 1200
DPPGIKALED MRKNLEKETR HLDEMKSAMR KGHNLLKKKE EKLNQLESSL
1210 1220 1230 1240 1250
WEEASDEGTL GGSPTKKAVT FDLSDMDSLS SESSESFSPP HREWWRQQRI
1260 1270 1280 1290 1300
DSTPSLTSRK IHGLSHSLRQ ISSQLSSVLS ILDSLNPQSP PPLLASMPAQ
1310 1320 1330 1340 1350
LPPRDPKSTP TPTYYGSLAR FSALSSATPT STQWAWDSGQ GPRLPSSVAQ
1360 1370 1380 1390 1400
TVDDFLLEKW RKYFPSGIPL LSNSPTPLES RLGYMSASEQ LRLLQHSHSQ
1410 1420 1430 1440 1450
VPEAGSTTFQ GIIEANRRWL ERVKNDPRLP LFSSTPKPKA TLSLLQLGLD
1460
EHNRVKVYRF
Length:1,460
Mass (Da):164,314
Last modified:December 4, 2007 - v3
Checksum:i7A4F91E1CB7D1E43
GO
Isoform 2 (identifier: Q9UPV0-2) [UniParc]FASTAAdd to basket

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

Show »
Length:1,455
Mass (Da):163,544
Checksum:i7F48093100C34819
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PIM2E9PIM2_HUMAN
Centrosomal protein of 164 kDa
CEP164
122Annotation score:
E9PR73E9PR73_HUMAN
Centrosomal protein of 164 kDa
CEP164
158Annotation score:
E9PI05E9PI05_HUMAN
Centrosomal protein of 164 kDa
CEP164
115Annotation score:
E9PLS8E9PLS8_HUMAN
Centrosomal protein of 164 kDa
CEP164
121Annotation score:
A0A1W2PQ68A0A1W2PQ68_HUMAN
Centrosomal protein of 164 kDa
CEP164
727Annotation score:

Sequence cautioni

The sequence AAH00602 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH54015 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAA83004 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA91677 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAB56023 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti110K → N in AAH54015 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06850311Q → P in NPHP15. 1 PublicationCorresponds to variant dbSNP:rs387907309EnsemblClinVar.1
Natural variantiVAR_06850493R → W in NPHP15. 1 PublicationCorresponds to variant dbSNP:rs387907310EnsemblClinVar.1
Natural variantiVAR_03751194S → N. Corresponds to variant dbSNP:rs490262EnsemblClinVar.1
Natural variantiVAR_037512988T → S1 PublicationCorresponds to variant dbSNP:rs2305830EnsemblClinVar.1
Natural variantiVAR_0375131119Q → R2 PublicationsCorresponds to variant dbSNP:rs573455EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_029843469E → ERYH in isoform 2. 2 Publications1
Alternative sequenceiVSP_0298441242 – 1250REWWRQQRI → L in isoform 2. 2 Publications9

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS31683.1 [Q9UPV0-1]
PIRiT17333
RefSeqiNP_001258862.1, NM_001271933.1 [Q9UPV0-2]
NP_055771.4, NM_014956.4 [Q9UPV0-1]
XP_005271513.1, XM_005271456.1 [Q9UPV0-1]
XP_005271514.1, XM_005271457.1 [Q9UPV0-2]
UniGeneiHs.504009

Genome annotation databases

EnsembliENST00000278935; ENSP00000278935; ENSG00000110274 [Q9UPV0-1]
GeneIDi22897
KEGGihsa:22897
UCSCiuc001prc.4 human [Q9UPV0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS31683.1 [Q9UPV0-1]
PIRiT17333
RefSeqiNP_001258862.1, NM_001271933.1 [Q9UPV0-2]
NP_055771.4, NM_014956.4 [Q9UPV0-1]
XP_005271513.1, XM_005271456.1 [Q9UPV0-1]
XP_005271514.1, XM_005271457.1 [Q9UPV0-2]
UniGeneiHs.504009

3D structure databases

ProteinModelPortaliQ9UPV0
SMRiQ9UPV0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116561, 89 interactors
CORUMiQ9UPV0
IntActiQ9UPV0, 73 interactors
STRINGi9606.ENSP00000278935

PTM databases

CarbonylDBiQ9UPV0
iPTMnetiQ9UPV0
PhosphoSitePlusiQ9UPV0

Polymorphism and mutation databases

BioMutaiCEP164
DMDMi162416241

Proteomic databases

EPDiQ9UPV0
PaxDbiQ9UPV0
PeptideAtlasiQ9UPV0
PRIDEiQ9UPV0
ProteomicsDBi85453
85454 [Q9UPV0-2]

Protocols and materials databases

DNASUi22897
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000278935; ENSP00000278935; ENSG00000110274 [Q9UPV0-1]
GeneIDi22897
KEGGihsa:22897
UCSCiuc001prc.4 human [Q9UPV0-1]

Organism-specific databases

CTDi22897
DisGeNETi22897
EuPathDBiHostDB:ENSG00000110274.14
GeneCardsiCEP164
H-InvDBiHIX0010166
HGNCiHGNC:29182 CEP164
HPAiHPA037605
HPA037606
HPA061504
MalaCardsiCEP164
MIMi614845 phenotype
614848 gene
neXtProtiNX_Q9UPV0
OpenTargetsiENSG00000110274
Orphaneti3156 Senior-Loken syndrome
PharmGKBiPA142672127
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJHV Eukaryota
ENOG4111VEQ LUCA
GeneTreeiENSGT00730000111178
HOGENOMiHOG000111523
HOVERGENiHBG065113
InParanoidiQ9UPV0
KOiK16462
OMAiQDRQLED
OrthoDBiEOG091G11U7
PhylomeDBiQ9UPV0
TreeFamiTF333034

Enzyme and pathway databases

ReactomeiR-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-8854518 AURKA Activation by TPX2

Miscellaneous databases

ChiTaRSiCEP164 human
GeneWikiiCEP164
GenomeRNAii22897
PROiPR:Q9UPV0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000110274 Expressed in 205 organ(s), highest expression level in sperm
CleanExiHS_CEP164
ExpressionAtlasiQ9UPV0 baseline and differential
GenevisibleiQ9UPV0 HS

Family and domain databases

CDDicd00201 WW, 1 hit
InterProiView protein in InterPro
IPR001202 WW_dom
IPR036020 WW_dom_sf
SMARTiView protein in SMART
SM00456 WW, 1 hit
SUPFAMiSSF51045 SSF51045, 1 hit
PROSITEiView protein in PROSITE
PS50020 WW_DOMAIN_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCE164_HUMAN
AccessioniPrimary (citable) accession number: Q9UPV0
Secondary accession number(s): Q6PKH9
, Q7Z2X9, Q9NVS0, Q9UFJ6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: December 4, 2007
Last modified: November 7, 2018
This is version 137 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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