CEP295
Centrosomal protein of 295 kDa
Also known as: CE295_HUMAN, KIAA1731
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9C0D2
- Gene
- CEP295
- Ensembl
- ENSG00000166004
- Chromosome
- 11
- Canonical length
- 2601 aa
- Protein class
- Predicted intracellular proteins
OverviewNCBI Gene
Enables microtubule binding activity. Involved in several processes, including centriole replication; positive regulation of protein acetylation; and regulation of centrosome duplication. Located in cytoplasm and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
2601 residues, UniProt reviewed canonical sequence.
>Q9C0D2|CEP295
1 MKRKVVNTHK LRLSPNEEAF ILKEDYERRR KLRLLQVREQ ERDIALQIRE DIKQRRNQQF
61 TRLAEELRAE WEESQTQKIQ NLEKLYLASL RSMGEGHRQA KENEPDLDAL AQRAAERKRK
121 ADLRHKEALK VQKNQKEILL KQKTWHIKAR KEALLVEKER SAKITSLPPP PPTLFENIEV
181 KRISAVKTNS STYHHLHTFV NRETDTKRPD ARLAAEEEAK RLEELQKQAA QERMERFEKA
241 HVRGFQAMKK IHLAQNQEKL MKELKQLQQE DLARRRQTVA QMPPQLVELP YKRSEMKEDW
301 QRELEFAFED MYNADRKVKG NLILHLEPEP LPTVTNQIQD EELDLSMEQE NLGAAEDLPV
361 TEAEICSSET DVPLVMKTQQ IPSKVLFKKL LNKIRSQKSL WTIKSMSEDE SEMITTVSEI
421 ESKAPTVESG TIASKERTLS SGQEQVVESD TLTIESGPLA SEDKPLSCGT NSGKEQEINE
481 TLPITTVAQS SVLLHPQEAA ARIRMSARQK QIMEIEEQKQ KQLELLEQIE QQKLRLETDC
541 FRAQLEEEKR KKTQPTGVGI APASCPVISD EDSHRQMIRN YQHQLLQQNR LHRQSVETAR
601 KQLLEYQTML KGRCPSVSAP SLITDSVISV PSWKSERPTA ISEHWDQGQR LKLSPNKYQP
661 IQPIQTSKLE QDHFQVARQN HFPQRQVETT ETLRASDILT NQALESQEHL RQFSQTETQQ
721 RDYKLVPKDS ETLSRALSHD RQLISQDARK ISETFGATTF QSLESQQLFS ENSENISYHL
781 TEPSSFVPLV PQHSFSSLPV KVESGKIQEP FSAMSKSTVS TSHSIISQMH DRPLLPSENI
841 TAQQGNMKAL QEQLDLQKKV LQATQEAQEQ LLLCKQKEVE QQTGLSVFLP LVTPDSSALL
901 PSAKADLGRI QESSPTKNNI AVSSDHHVIS QLQDKRLSLS QPILSQQNNF KFLQEQLNIQ
961 KDSLQARREA QEVLYVHKQS ELDRRVCSEQ AEPSFPFQVA QHTFTSLPSA DTKSGKIQEQ
1021 HSSKSEKGLV SCQSDIPISQ DGSLSFLQQF LPLHDSLKLL QEQLTKQRDT LQARHEAQVE
1081 LLLHRQRDLG DSKSGLVSSS SSPVVVQHSV ASQASAKAEP RRIQELYLSE KENVGPSCHL
1141 IIPTFQDKSL SFPQHSLAQQ ENLTILQEQS QIQRVILGAK EGTQEFVHTE SELEKRISSE
1201 QTGTSSSLSQ VDESERFQEC ISIKSDSTIP LSHPKIPRCQ ERLLRVSQHM LPLQDNLEEH
1261 QAWLDTEKEA FHFSQKTQEN TSSEQTGSSS FIPQLVQLSF TSLASAESGT ILEPLFTESE
1321 SKIFSSHLQI PQLQDRLLRI SQLIQPQQDN LKALQEQLAT QREAIILARQ EAREELLLHQ
1381 SEWEGRISPE QVDTSSLPLV PQHSFASLPL NESERNQEPC SINSDNIVSS GHSEIPTLPD
1441 GLLGLSHLVL PQQDNLIALE EHLHAQTDFL PSIEKTQKEL VLSKPCKFEE KVSSEHFIQS
1501 HHGDLQALQQ QLDTQKKAIR SIQEVQEELL LQRLSELEKR VSSEQVCSSS FVSQVPVADS
1561 ERTQKSFPTK SNDTLPSSHR EIPRLQDRLL SLSKPILPQQ DNMTAQLDAQ REVMYSYEKP
1621 QEELSLNKQR KLNKSESAEH TIPSLFLPKE TEHSFIPLPF AEAKPKSTCE LYSSQNEHAA
1681 PPSNPVIPGF QDRLLSFSQS VLTQQDNLGL QKQLDLQREV LHYSQKAQEK LLVQRQTALQ
1741 QQIQKHEETL KDFFKDSQIS KPTVENDLKT QKMGQLRDWF PNTQDLAGND QENIRHADRN
1801 NSDDNHLASE DTSAKQSGEH LEKDLGRRSS KPPVAKVKCG LDLNQHELSA IQEVESPAIG
1861 RTSILGKPGI YEDRDPLRVS ISREQSFFGS PLAHDPFSCL QLVGQENVCG DDYDEAVKLK
1921 ESVVENHAVL SYAVEEEHAY LGPTVKPDDK AKTLSYEPLS SATVSTGSLL SYENTDLSLT
1981 DPESFSEHMD DSKQESTTSK EEETNIISSI VPSTQDIYQR QNSSDVHKSL LPAVDETTCG
2041 HTHFQQMIDK YINEANLIPE KTDLQELEHI FPNLHHQLFK PLEPHPDFDL SSSSSGISPD
2101 NRDFYQRSDS SSESHCATGL SKSTVYFTAL RRTSMHSSLN TSPNQQPDTN LAHVGAHSFA
2161 TENIIGGSEQ CFEQLQPEYS SQEESQHADL PSIFSIEARD SSQGMKNQNY PSEEHTEILQ
2221 NKKKIVHFQL SIGNLSSVYS SSDEANVFDQ LNVQHSTPCG SNSSECSTKH QLESRKESMG
2281 FEELSKRGVV TMLQSQGLIE DNKNETCRVL DINPQVEETD SRLCVRTVEM GTSIQAPYSL
2341 TTQNEKYFEN SAETDIPKIT KKLSQLGESE LFASSGSFSL QSSIPVWETE TGHGIMEEPE
2401 LTLISTTDTS IAEMDFANLT LEEKSENEAK CFFQVSEFLP LVSATEASDY PAVSELSIEK
2461 PRTASTETPR RLTPVPGSLQ EAFIKRKKSF MERSHQRQKE IRNKIHVSEN SQIKTVKEKP
2521 SISSSVSRLK GVNKVRASFP EDRKTTQALR HQRGLRLYNQ LAEVKQQKEE KTKQEAYAQN
2581 RARAKEFHKK TLEKLRAKNT CLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CEP295 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.61
- Highest tissue expression
- 16 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 16 nTPM
- bone marrow: 15 nTPM
- retina: 14 nTPM
- testis: 11 nTPM
- lymph node: 10 nTPM
- thymus: 9.6 nTPM
Single-cell type
- oocytes: 157 nCPM
- early spermatids: 120 nCPM
- erythrocyte progenitors: 85 nCPM
- neutrophil progenitors: 81 nCPM
- monocyte progenitors: 76 nCPM
- lactotrophs: 74 nCPM
Immune cell
- neutrophil: 5.1 nTPM
- eosinophil: 3.5 nTPM
- naive B-cell: 3.5 nTPM
- basophil: 3.3 nTPM
- memory B-cell: 3.2 nTPM
- classical monocyte: 1.7 nTPM
Brain region
- cerebellum: 37 nTPM
- white matter: 29 nTPM
- cerebral cortex: 27 nTPM
- hypothalamus: 24 nTPM
- amygdala: 23 nTPM
- basal ganglia: 23 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CEP295.
Disease | AllUniProt
Conditions CEP295 is implicated in, by any mechanism.
- Seckel syndrome 11 (SCKL11) MIM:620767
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 467 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Seckel syndrome 11
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.49
- gnomAD pLI
- 0
- DepMap mean gene effect
- -0.21
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell projection organization
- centriole replication
- positive regulation of centriole elongation
- positive regulation of centrosome duplication
- positive regulation of establishment of protein localization
- positive regulation of protein acetylation
- regulation of centriole replication
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CEP295 as an antibody target. Whether an autoantibody or antibody against CEP295 could matter depends on whether native CEP295 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CEP295 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CEP295 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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