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Protein

Centrosomal protein of 295 kDa

Gene

CEP295

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • microtubule binding Source: UniProtKB

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Centrosomal protein of 295 kDaCurated
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CEP295Imported
Synonyms:KIAA1731Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000166004.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29366 CEP295

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
617728 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9C0D2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
85459

Open Targets

More...
OpenTargetsi
ENSG00000166004

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671597

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CEP295

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439480

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003245951 – 2601Centrosomal protein of 295 kDaAdd BLAST2601

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei14PhosphoserineCombined sources1
Modified residuei654PhosphoserineCombined sources1
Modified residuei938PhosphoserineCombined sources1
Modified residuei1637PhosphoserineCombined sources1
Modified residuei2473PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9C0D2

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9C0D2

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9C0D2

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9C0D2

PeptideAtlas

More...
PeptideAtlasi
Q9C0D2

PRoteomics IDEntifications database

More...
PRIDEi
Q9C0D2

ProteomicsDB human proteome resource

More...
ProteomicsDBi
80007
80008 [Q9C0D2-2]
80009 [Q9C0D2-3]
80010 [Q9C0D2-4]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
Q9C0D2

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9C0D2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9C0D2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000166004 Expressed in 200 organ(s), highest expression level in oocyte

CleanEx database of gene expression profiles

More...
CleanExi
HS_KIAA1731

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9C0D2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9C0D2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038595
HPA038596
HPA038597

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
124543, 45 interactors

Protein interaction database and analysis system

More...
IntActi
Q9C0D2, 24 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000316681

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9C0D2

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9C0D2

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 560Necessary for centriole targeting and microtubule association1 PublicationAdd BLAST560
Regioni2478 – 2601ALMS motifAdd BLAST124

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>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

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IK6S Eukaryota
ENOG41124ZG LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153123

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG108044

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9C0D2

Identification of Orthologs from Complete Genome Data

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OMAi
HSVISQM

Database of Orthologous Groups

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OrthoDBi
97863at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9C0D2

TreeFam database of animal gene trees

More...
TreeFami
TF331536

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029299 ALMS_motif
IPR029560 CEP295

The PANTHER Classification System

More...
PANTHERi
PTHR21553:SF25 PTHR21553:SF25, 2 hits

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15309 ALMS_motif, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PJY3E9PJY3_HUMAN
Centrosomal protein of 295 kDa
CEP295
579Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PJG3E9PJG3_HUMAN
Centrosomal protein of 295 kDa
CEP295
138Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PM20E9PM20_HUMAN
Centrosomal protein of 295 kDa
CEP295
79Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS44708.1 [Q9C0D2-1]

NCBI Reference Sequences

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RefSeqi
NP_203753.1, NM_033395.1 [Q9C0D2-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.458418

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000325212; ENSP00000316681; ENSG00000166004 [Q9C0D2-1]
ENST00000531700; ENSP00000437323; ENSG00000166004 [Q9C0D2-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
85459

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:85459

UCSC genome browser

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UCSCi
uc001pdu.1 human [Q9C0D2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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, 45 interactors
IntActiQ9C0D2, 24 interactors
STRINGi9606.ENSP00000316681

PTM databases

CarbonylDBiQ9C0D2
iPTMnetiQ9C0D2
PhosphoSitePlusiQ9C0D2

Polymorphism and mutation databases

BioMutaiCEP295
DMDMi296439480

Proteomic databases

EPDiQ9C0D2
jPOSTiQ9C0D2
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

Comparative Toxicogenomics Database

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CTDi
85459
DisGeNETi85459
EuPathDBiHostDB:ENSG00000166004.14

GeneCards: human genes, protein and diseases

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GeneCardsi
CEP295
HGNCiHGNC:29366 CEP295
HPAiHPA038595
HPA038596
HPA038597
MIMi617728 gene
neXtProtiNX_Q9C0D2
OpenTargetsiENSG00000166004
PharmGKBiPA142671597

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IK6S Eukaryota
ENOG41124ZG LUCA
GeneTreeiENSGT00940000153123
HOVERGENiHBG108044
InParanoidiQ9C0D2
OMAiHSVISQM
OrthoDBi97863at2759
PhylomeDBiQ9C0D2
TreeFamiTF331536

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
CEP295 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
85459

Protein Ontology

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PROi
PR:Q9C0D2

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCE295_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9C0D2
Secondary accession number(s): C9J5H9
, C9JQY8, Q8N7L4, Q8N919, Q8N9B0, Q96LT8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: May 18, 2010
Last modified: January 16, 2019
This is version 109 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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