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Protein

Centrosomal protein of 295 kDa

Gene

CEP295

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

Functioni

Centriole-enriched microtubule-binding protein involved in centriole biogenesis (PubMed:20844083, PubMed:25131205, PubMed:27185865). Essential for the generation of the distal portion of new-born centrioles in a CENPJ- and CEP120-mediated elongation dependent manner during the cell cycle S/G2 phase after formation of the initiating cartwheel structure (PubMed:27185865). Required for the recruitment of centriolar proteins, such as POC1B, POC5 and CEP135, into the distal portion of centrioles (PubMed:27185865). Also required for centriole-to-centrosome conversion during mitotic progression, but is dispensable for cartwheel removal or centriole disengagement (PubMed:25131205). Binds to and stabilizes centriolar microtubule (PubMed:27185865).3 Publications

GO - Molecular functioni

  • microtubule binding Source: UniProtKB

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 295 kDaCurated
Gene namesi
Name:CEP295Imported
Synonyms:KIAA1731Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000166004.14
HGNCiHGNC:29366 CEP295
MIMi617728 gene
neXtProtiNX_Q9C0D2

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi85459
OpenTargetsiENSG00000166004
PharmGKBiPA142671597

Polymorphism and mutation databases

BioMutaiKIAA1731
DMDMi296439480

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003245951 – 2601Centrosomal protein of 295 kDaAdd BLAST2601

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei14PhosphoserineCombined sources1
Modified residuei654PhosphoserineCombined sources1
Modified residuei938PhosphoserineCombined sources1
Modified residuei1637PhosphoserineCombined sources1
Modified residuei2473PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9C0D2
MaxQBiQ9C0D2
PaxDbiQ9C0D2
PeptideAtlasiQ9C0D2
PRIDEiQ9C0D2
ProteomicsDBi80007
80008 [Q9C0D2-2]
80009 [Q9C0D2-3]
80010 [Q9C0D2-4]

PTM databases

CarbonylDBiQ9C0D2
iPTMnetiQ9C0D2
PhosphoSitePlusiQ9C0D2

Expressioni

Gene expression databases

BgeeiENSG00000166004 Expressed in 200 organ(s), highest expression level in oocyte
CleanExiHS_KIAA1731
ExpressionAtlasiQ9C0D2 baseline and differential
GenevisibleiQ9C0D2 HS

Organism-specific databases

HPAiHPA038595
HPA038596
HPA038597

Interactioni

Subunit structurei

Interacts (via ALMS motif) with microtubules; this interaction is direct.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi124543, 24 interactors
IntActiQ9C0D2, 24 interactors
STRINGi9606.ENSP00000316681

Structurei

3D structure databases

ProteinModelPortaliQ9C0D2
SMRiQ9C0D2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 560Necessary for centriole targeting and microtubule association1 PublicationAdd BLAST560
Regioni2478 – 2601ALMS motifAdd BLAST124

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili207 – 273Sequence analysisAdd BLAST67
Coiled coili500 – 552Sequence analysisAdd BLAST53
Coiled coili1053 – 1082Sequence analysisAdd BLAST30
Coiled coili1498 – 1544Sequence analysisAdd BLAST47
Coiled coili1728 – 1758Sequence analysisAdd BLAST31
Coiled coili2556 – 2581Sequence analysisAdd BLAST26

Domaini

The N-terminal and the ALMS motif-containing C-terminal regions are essential for CEP295-mediated centriole elongation.1 Publication

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IK6S Eukaryota
ENOG41124ZG LUCA
GeneTreeiENSGT00540000072076
HOVERGENiHBG108044
InParanoidiQ9C0D2
OMAiQKSLWTI
OrthoDBiEOG091G06J1
PhylomeDBiQ9C0D2
TreeFamiTF331536

Family and domain databases

InterProiView protein in InterPro
IPR029299 ALMS_motif
IPR029560 CEP295
PANTHERiPTHR21553:SF25 PTHR21553:SF25, 2 hits
PfamiView protein in Pfam
PF15309 ALMS_motif, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9C0D2-1) [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
MKRKVVNTHK LRLSPNEEAF ILKEDYERRR KLRLLQVREQ ERDIALQIRE
60 70 80 90 100
DIKQRRNQQF TRLAEELRAE WEESQTQKIQ NLEKLYLASL RSMGEGHRQA
110 120 130 140 150
KENEPDLDAL AQRAAERKRK ADLRHKEALK VQKNQKEILL KQKTWHIKAR
160 170 180 190 200
KEALLVEKER SAKITSLPPP PPTLFENIEV KRISAVKTNS STYHHLHTFV
210 220 230 240 250
NRETDTKRPD ARLAAEEEAK RLEELQKQAA QERMERFEKA HVRGFQAMKK
260 270 280 290 300
IHLAQNQEKL MKELKQLQQE DLARRRQTVA QMPPQLVELP YKRSEMKEDW
310 320 330 340 350
QRELEFAFED MYNADRKVKG NLILHLEPEP LPTVTNQIQD EELDLSMEQE
360 370 380 390 400
NLGAAEDLPV TEAEICSSET DVPLVMKTQQ IPSKVLFKKL LNKIRSQKSL
410 420 430 440 450
WTIKSMSEDE SEMITTVSEI ESKAPTVESG TIASKERTLS SGQEQVVESD
460 470 480 490 500
TLTIESGPLA SEDKPLSCGT NSGKEQEINE TLPITTVAQS SVLLHPQEAA
510 520 530 540 550
ARIRMSARQK QIMEIEEQKQ KQLELLEQIE QQKLRLETDC FRAQLEEEKR
560 570 580 590 600
KKTQPTGVGI APASCPVISD EDSHRQMIRN YQHQLLQQNR LHRQSVETAR
610 620 630 640 650
KQLLEYQTML KGRCPSVSAP SLITDSVISV PSWKSERPTA ISEHWDQGQR
660 670 680 690 700
LKLSPNKYQP IQPIQTSKLE QDHFQVARQN HFPQRQVETT ETLRASDILT
710 720 730 740 750
NQALESQEHL RQFSQTETQQ RDYKLVPKDS ETLSRALSHD RQLISQDARK
760 770 780 790 800
ISETFGATTF QSLESQQLFS ENSENISYHL TEPSSFVPLV PQHSFSSLPV
810 820 830 840 850
KVESGKIQEP FSAMSKSTVS TSHSIISQMH DRPLLPSENI TAQQGNMKAL
860 870 880 890 900
QEQLDLQKKV LQATQEAQEQ LLLCKQKEVE QQTGLSVFLP LVTPDSSALL
910 920 930 940 950
PSAKADLGRI QESSPTKNNI AVSSDHHVIS QLQDKRLSLS QPILSQQNNF
960 970 980 990 1000
KFLQEQLNIQ KDSLQARREA QEVLYVHKQS ELDRRVCSEQ AEPSFPFQVA
1010 1020 1030 1040 1050
QHTFTSLPSA DTKSGKIQEQ HSSKSEKGLV SCQSDIPISQ DGSLSFLQQF
1060 1070 1080 1090 1100
LPLHDSLKLL QEQLTKQRDT LQARHEAQVE LLLHRQRDLG DSKSGLVSSS
1110 1120 1130 1140 1150
SSPVVVQHSV ASQASAKAEP RRIQELYLSE KENVGPSCHL IIPTFQDKSL
1160 1170 1180 1190 1200
SFPQHSLAQQ ENLTILQEQS QIQRVILGAK EGTQEFVHTE SELEKRISSE
1210 1220 1230 1240 1250
QTGTSSSLSQ VDESERFQEC ISIKSDSTIP LSHPKIPRCQ ERLLRVSQHM
1260 1270 1280 1290 1300
LPLQDNLEEH QAWLDTEKEA FHFSQKTQEN TSSEQTGSSS FIPQLVQLSF
1310 1320 1330 1340 1350
TSLASAESGT ILEPLFTESE SKIFSSHLQI PQLQDRLLRI SQLIQPQQDN
1360 1370 1380 1390 1400
LKALQEQLAT QREAIILARQ EAREELLLHQ SEWEGRISPE QVDTSSLPLV
1410 1420 1430 1440 1450
PQHSFASLPL NESERNQEPC SINSDNIVSS GHSEIPTLPD GLLGLSHLVL
1460 1470 1480 1490 1500
PQQDNLIALE EHLHAQTDFL PSIEKTQKEL VLSKPCKFEE KVSSEHFIQS
1510 1520 1530 1540 1550
HHGDLQALQQ QLDTQKKAIR SIQEVQEELL LQRLSELEKR VSSEQVCSSS
1560 1570 1580 1590 1600
FVSQVPVADS ERTQKSFPTK SNDTLPSSHR EIPRLQDRLL SLSKPILPQQ
1610 1620 1630 1640 1650
DNMTAQLDAQ REVMYSYEKP QEELSLNKQR KLNKSESAEH TIPSLFLPKE
1660 1670 1680 1690 1700
TEHSFIPLPF AEAKPKSTCE LYSSQNEHAA PPSNPVIPGF QDRLLSFSQS
1710 1720 1730 1740 1750
VLTQQDNLGL QKQLDLQREV LHYSQKAQEK LLVQRQTALQ QQIQKHEETL
1760 1770 1780 1790 1800
KDFFKDSQIS KPTVENDLKT QKMGQLRDWF PNTQDLAGND QENIRHADRN
1810 1820 1830 1840 1850
NSDDNHLASE DTSAKQSGEH LEKDLGRRSS KPPVAKVKCG LDLNQHELSA
1860 1870 1880 1890 1900
IQEVESPAIG RTSILGKPGI YEDRDPLRVS ISREQSFFGS PLAHDPFSCL
1910 1920 1930 1940 1950
QLVGQENVCG DDYDEAVKLK ESVVENHAVL SYAVEEEHAY LGPTVKPDDK
1960 1970 1980 1990 2000
AKTLSYEPLS SATVSTGSLL SYENTDLSLT DPESFSEHMD DSKQESTTSK
2010 2020 2030 2040 2050
EEETNIISSI VPSTQDIYQR QNSSDVHKSL LPAVDETTCG HTHFQQMIDK
2060 2070 2080 2090 2100
YINEANLIPE KTDLQELEHI FPNLHHQLFK PLEPHPDFDL SSSSSGISPD
2110 2120 2130 2140 2150
NRDFYQRSDS SSESHCATGL SKSTVYFTAL RRTSMHSSLN TSPNQQPDTN
2160 2170 2180 2190 2200
LAHVGAHSFA TENIIGGSEQ CFEQLQPEYS SQEESQHADL PSIFSIEARD
2210 2220 2230 2240 2250
SSQGMKNQNY PSEEHTEILQ NKKKIVHFQL SIGNLSSVYS SSDEANVFDQ
2260 2270 2280 2290 2300
LNVQHSTPCG SNSSECSTKH QLESRKESMG FEELSKRGVV TMLQSQGLIE
2310 2320 2330 2340 2350
DNKNETCRVL DINPQVEETD SRLCVRTVEM GTSIQAPYSL TTQNEKYFEN
2360 2370 2380 2390 2400
SAETDIPKIT KKLSQLGESE LFASSGSFSL QSSIPVWETE TGHGIMEEPE
2410 2420 2430 2440 2450
LTLISTTDTS IAEMDFANLT LEEKSENEAK CFFQVSEFLP LVSATEASDY
2460 2470 2480 2490 2500
PAVSELSIEK PRTASTETPR RLTPVPGSLQ EAFIKRKKSF MERSHQRQKE
2510 2520 2530 2540 2550
IRNKIHVSEN SQIKTVKEKP SISSSVSRLK GVNKVRASFP EDRKTTQALR
2560 2570 2580 2590 2600
HQRGLRLYNQ LAEVKQQKEE KTKQEAYAQN RARAKEFHKK TLEKLRAKNT

C
Length:2,601
Mass (Da):295,176
Last modified:May 18, 2010 - v4
Checksum:iF18F9B2EE1DAADC7
GO
Isoform 2 (identifier: Q9C0D2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1772: Missing.
     1818-1865: Missing.

Note: No experimental confirmation available.
Show »
Length:781
Mass (Da):87,680
Checksum:i5B4B98F9A7DD805F
GO
Isoform 3 (identifier: Q9C0D2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2466-2466: T → TA

Note: No experimental confirmation available.
Show »
Length:2,602
Mass (Da):295,247
Checksum:i98BF6EE7B108180A
GO
Isoform 4 (identifier: Q9C0D2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1988: Missing.
     2466-2466: T → TA

Note: No experimental confirmation available.
Show »
Length:614
Mass (Da):69,177
Checksum:i47392AF4788E13FD
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YDK0H0YDK0_HUMAN
Centrosomal protein of 295 kDa
CEP295
248Annotation score:
E9PJY3E9PJY3_HUMAN
Centrosomal protein of 295 kDa
CEP295
579Annotation score:
E9PJG3E9PJG3_HUMAN
Centrosomal protein of 295 kDa
CEP295
138Annotation score:
E9PM20E9PM20_HUMAN
Centrosomal protein of 295 kDa
CEP295
79Annotation score:

Sequence cautioni

The sequence BAB21822 differs from that shown. Reason: Frameshift at position 2016.Curated
The sequence BAB21822 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB71582 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC04638 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti511Q → H in BAB21822 (PubMed:11214970).Curated1
Sequence conflicti1888F → L in BAC04502 (PubMed:14702039).Curated1
Sequence conflicti2026V → L in BAC05264 (PubMed:14702039).Curated1
Sequence conflicti2081P → S in BAC05264 (PubMed:14702039).Curated1
Sequence conflicti2278S → G in BAC05264 (PubMed:14702039).Curated1
Sequence conflicti2294Q → R in BAC05264 (PubMed:14702039).Curated1
Sequence conflicti2437E → V in BAB71582 (PubMed:14702039).Curated1
Sequence conflicti2437E → V in BAC04502 (PubMed:14702039).Curated1
Sequence conflicti2437E → V in BAC04638 (PubMed:14702039).Curated1
Sequence conflicti2437E → V in BAC05264 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05933780Q → K. Corresponds to variant dbSNP:rs7128850Ensembl.1
Natural variantiVAR_059338208R → Q1 PublicationCorresponds to variant dbSNP:rs10831088Ensembl.1
Natural variantiVAR_059339499A → E1 PublicationCorresponds to variant dbSNP:rs4753495Ensembl.1
Natural variantiVAR_0593401026E → K. Corresponds to variant dbSNP:rs3802771Ensembl.1
Natural variantiVAR_0593411270A → G. Corresponds to variant dbSNP:rs2298707Ensembl.1
Natural variantiVAR_0593421441G → E. Corresponds to variant dbSNP:rs3802773Ensembl.1
Natural variantiVAR_0593431459L → R. Corresponds to variant dbSNP:rs3802774Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0322881 – 1988Missing in isoform 4. 1 PublicationAdd BLAST1988
Alternative sequenceiVSP_0322891 – 1772Missing in isoform 2. 1 PublicationAdd BLAST1772
Alternative sequenceiVSP_0322901818 – 1865Missing in isoform 2. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_0322912466T → TA in isoform 3 and isoform 4. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB051518 mRNA Translation: BAB21822.2 Sequence problems.
AK057804 mRNA Translation: BAB71582.1 Different initiation.
AK095218 mRNA Translation: BAC04502.1
AK095859 mRNA Translation: BAC04638.1 Different initiation.
AK098232 mRNA Translation: BAC05264.1
AP001273 Genomic DNA No translation available.
AP003499 Genomic DNA No translation available.
CCDSiCCDS44708.1 [Q9C0D2-1]
RefSeqiNP_203753.1, NM_033395.1 [Q9C0D2-1]
UniGeneiHs.458418

Genome annotation databases

EnsembliENST00000325212; ENSP00000316681; ENSG00000166004 [Q9C0D2-1]
ENST00000531700; ENSP00000437323; ENSG00000166004 [Q9C0D2-2]
GeneIDi85459
KEGGihsa:85459
UCSCiuc001pdu.1 human [Q9C0D2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB051518 mRNA Translation: BAB21822.2 Sequence problems.
AK057804 mRNA Translation: BAB71582.1 Different initiation.
AK095218 mRNA Translation: BAC04502.1
AK095859 mRNA Translation: BAC04638.1 Different initiation.
AK098232 mRNA Translation: BAC05264.1
AP001273 Genomic DNA No translation available.
AP003499 Genomic DNA No translation available.
CCDSiCCDS44708.1 [Q9C0D2-1]
RefSeqiNP_203753.1, NM_033395.1 [Q9C0D2-1]
UniGeneiHs.458418

3D structure databases

ProteinModelPortaliQ9C0D2
SMRiQ9C0D2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124543, 24 interactors
IntActiQ9C0D2, 24 interactors
STRINGi9606.ENSP00000316681

PTM databases

CarbonylDBiQ9C0D2
iPTMnetiQ9C0D2
PhosphoSitePlusiQ9C0D2

Polymorphism and mutation databases

BioMutaiKIAA1731
DMDMi296439480

Proteomic databases

EPDiQ9C0D2
MaxQBiQ9C0D2
PaxDbiQ9C0D2
PeptideAtlasiQ9C0D2
PRIDEiQ9C0D2
ProteomicsDBi80007
80008 [Q9C0D2-2]
80009 [Q9C0D2-3]
80010 [Q9C0D2-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000325212; ENSP00000316681; ENSG00000166004 [Q9C0D2-1]
ENST00000531700; ENSP00000437323; ENSG00000166004 [Q9C0D2-2]
GeneIDi85459
KEGGihsa:85459
UCSCiuc001pdu.1 human [Q9C0D2-1]

Organism-specific databases

CTDi85459
DisGeNETi85459
EuPathDBiHostDB:ENSG00000166004.14
GeneCardsiCEP295
HGNCiHGNC:29366 CEP295
HPAiHPA038595
HPA038596
HPA038597
MIMi617728 gene
neXtProtiNX_Q9C0D2
OpenTargetsiENSG00000166004
PharmGKBiPA142671597
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IK6S Eukaryota
ENOG41124ZG LUCA
GeneTreeiENSGT00540000072076
HOVERGENiHBG108044
InParanoidiQ9C0D2
OMAiQKSLWTI
OrthoDBiEOG091G06J1
PhylomeDBiQ9C0D2
TreeFamiTF331536

Miscellaneous databases

ChiTaRSiCEP295 human
GenomeRNAii85459
PROiPR:Q9C0D2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000166004 Expressed in 200 organ(s), highest expression level in oocyte
CleanExiHS_KIAA1731
ExpressionAtlasiQ9C0D2 baseline and differential
GenevisibleiQ9C0D2 HS

Family and domain databases

InterProiView protein in InterPro
IPR029299 ALMS_motif
IPR029560 CEP295
PANTHERiPTHR21553:SF25 PTHR21553:SF25, 2 hits
PfamiView protein in Pfam
PF15309 ALMS_motif, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCE295_HUMAN
AccessioniPrimary (citable) accession number: Q9C0D2
Secondary accession number(s): C9J5H9
, C9JQY8, Q8N7L4, Q8N919, Q8N9B0, Q96LT8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: May 18, 2010
Last modified: September 12, 2018
This is version 106 of the entry and version 4 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 chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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