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Entry version 141 (13 Feb 2019)
Sequence version 3 (01 May 2007)
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Protein

Cilia- and flagella-associated protein 52

Gene

CFAP52

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

Annotation score:4 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

May play a role in cell growth and/or survival.1 Publication

Miscellaneous

May be a good candidate as a diagnostic marker for HCC as well as a potential molecular target for development of novel therapeutic drugs.

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q8N1V2

<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:
Cilia- and flagella-associated protein 52Imported
Alternative name(s):
WD repeat-containing protein 16Imported
WD40-repeat protein up-regulated in HCC1 Publication
<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:CFAP52Imported
Synonyms:WDR16Imported, WDRPUH1 Publication
<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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000166596.14

Human Gene Nomenclature Database

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HGNCi
HGNC:16053 CFAP52

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609804 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N1V2

<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

<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

Cell projection, Cilium, Cytoplasm, Flagellum

<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
146845

MalaCards human disease database

More...
MalaCardsi
CFAP52

Open Targets

More...
OpenTargetsi
ENSG00000166596

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
101063 Situs inversus totalis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38084

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CFAP52

Domain mapping of disease mutations (DMDM)

More...
DMDMi
146291099

<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_00002331531 – 620Cilia- and flagella-associated protein 52Add BLAST620

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8N1V2

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

More...
PaxDbi
Q8N1V2

PeptideAtlas

More...
PeptideAtlasi
Q8N1V2

PRoteomics IDEntifications database

More...
PRIDEi
Q8N1V2

ProteomicsDB human proteome resource

More...
ProteomicsDBi
71634
71635 [Q8N1V2-2]
71636 [Q8N1V2-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N1V2

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

More...
PhosphoSitePlusi
Q8N1V2

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in testis. Up-regulated in hepatocellular carcinoma (HCC).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000166596 Expressed in 111 organ(s), highest expression level in bronchial epithelial cell

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8N1V2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N1V2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA023247

<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 with BRCA2 (PubMed:15967112). Interacts with the CCT chaperonin complex (PubMed:15967112). Interacts with HSP70 (PubMed:15967112).1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
127014, 12 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N1V2, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000339449

<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
Q8N1V2

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

More...
SMRi
Q8N1V2

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati62 – 106WD 1Sequence analysisAdd BLAST45
Repeati109 – 150WD 2Sequence analysisAdd BLAST42
Repeati156 – 195WD 3Sequence analysisAdd BLAST40
Repeati288 – 327WD 4Sequence analysisAdd BLAST40
Repeati330 – 369WD 5Sequence analysisAdd BLAST40
Repeati372 – 411WD 6Sequence analysisAdd BLAST40
Repeati415 – 454WD 7Sequence analysisAdd BLAST40
Repeati459 – 498WD 8Sequence analysisAdd BLAST40
Repeati500 – 539WD 9Sequence analysisAdd BLAST40
Repeati543 – 582WD 10Sequence analysisAdd BLAST40
Repeati585 – 620WD 11Sequence analysisAdd BLAST36

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CFAP52 family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0266 Eukaryota
ENOG410XP3K LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157016

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000258436

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG055224

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N1V2

Identification of Orthologs from Complete Genome Data

More...
OMAi
AIPNAHN

Database of Orthologous Groups

More...
OrthoDBi
185227at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N1V2

TreeFam database of animal gene trees

More...
TreeFami
TF323254

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.130.10.10, 3 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR033015 CFAP52
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR13720:SF14 PTHR13720:SF14, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00400 WD40, 5 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00320 WD40, 11 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50978 SSF50978, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00678 WD_REPEATS_1, 2 hits
PS50082 WD_REPEATS_2, 5 hits
PS50294 WD_REPEATS_REGION, 2 hits

<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 (3+)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 3 <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 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8N1V2-1) [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
MDNKISPEAQ VAELELDAVI GFNGHVPTGL KCHPDQEHMI YPLGCTVLIQ
60 70 80 90 100
AINTKEQNFL QGHGNNVSCL AISRSGEYIA SGQVTFMGFK ADIILWDYKN
110 120 130 140 150
RELLARLSLH KGKIEALAFS PNDLYLVSLG GPDDGSVVVW SIAKRDAICG
160 170 180 190 200
SPAAGLNVGN ATNVIFSRCR DEMFMTAGNG TIRVWELDLP NRKIWPTECQ
210 220 230 240 250
TGQLKRIVMS IGVDDDDSFF YLGTTTGDIL KMNPRTKLLT DVGPAKDKFS
260 270 280 290 300
LGVSAIRCLK MGGLLVGSGA GLLVFCKSPG YKPIKKIQLQ GGITSITLRG
310 320 330 340 350
EGHQFLVGTE ESHIYRVSFT DFKETLIATC HFDAVEDIVF PFGTAELFAT
360 370 380 390 400
CAKKDIRVWH TSSNRELLRI TVPNMTCHGI DFMRDGKSII SAWNDGKIRA
410 420 430 440 450
FAPETGRLMY VINNAHRIGV TAIATTSDCK RVISGGGEGE VRVWQIGCQT
460 470 480 490 500
QKLEEALKEH KSSVSCIRVK RNNEECVTAS TDGTCIIWDL VRLRRNQMIL
510 520 530 540 550
ANTLFQCVCY HPEEFQIITS GTDRKIAYWE VFDGTVIREL EGSLSGSING
560 570 580 590 600
MDITQEGVHF VTGGNDHLVK VWDYNEGEVT HVGVGHSGNI TRIRISPGNQ
610 620
YIVSVSADGA ILRWKYPYTS
Length:620
Mass (Da):68,298
Last modified:May 1, 2007 - v3
<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:iDC2F5DC3994CD7DD
GO
Isoform 2 (identifier: Q8N1V2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: MDNKISPEAQVAELELDAVIGFN → MEAVVLPWQIFGVRELPVERGVTMKGPRLFRAP

Note: No experimental confirmation available.
Show »
Length:630
Mass (Da):69,575
Checksum:i9FA6195B75B4D0C4
GO
Isoform 3 (identifier: Q8N1V2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     24-91: Missing.

Note: No experimental confirmation available.
Show »
Length:552
Mass (Da):60,957
Checksum:iF67217BF3FC71AC8
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ERC0K7ERC0_HUMAN
Cilia- and flagella-associated prot...
CFAP52
93Annotation 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>
V9GY13V9GY13_HUMAN
Cilia- and flagella-associated prot...
CFAP52
127Annotation 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>
I3L2G9I3L2G9_HUMAN
Cilia- and flagella-associated prot...
CFAP52
31Annotation 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>
A0A096LNH3A0A096LNH3_HUMAN
Cilia- and flagella-associated prot...
CFAP52
42Annotation 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>
I3L237I3L237_HUMAN
Cilia- and flagella-associated prot...
CFAP52
48Annotation 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 BAB85083 differs from that shown. Reason: Frameshift at position 183.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 conflicti91A → V in AAH25392 (PubMed:15489334).Curated1
Sequence conflicti199C → S in AAH25392 (PubMed:15489334).Curated1
Sequence conflicti243G → E in BAB85083 (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_026057336E → K2 PublicationsCorresponds to variant dbSNP:rs6503235Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0180671 – 23MDNKI…VIGFN → MEAVVLPWQIFGVRELPVER GVTMKGPRLFRAP in isoform 2. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_01806824 – 91Missing in isoform 3. 1 PublicationAdd BLAST68

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB065281 mRNA Translation: BAB83743.1
AK074435 mRNA Translation: BAB85083.1 Frameshift.
AK094847 mRNA Translation: BAC04435.1
AK315679 mRNA Translation: BAG38044.1
AC087501 Genomic DNA No translation available.
AC118755 Genomic DNA No translation available.
BC025392 mRNA Translation: AAH25392.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11149.2 [Q8N1V2-1]
CCDS42262.1 [Q8N1V2-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001074025.1, NM_001080556.1 [Q8N1V2-3]
NP_659491.4, NM_145054.4 [Q8N1V2-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.232270

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000352665; ENSP00000339449; ENSG00000166596 [Q8N1V2-1]
ENST00000396219; ENSP00000379521; ENSG00000166596 [Q8N1V2-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
146845

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:146845

UCSC genome browser

More...
UCSCi
uc002gly.5 human [Q8N1V2-1]

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
AB065281 mRNA Translation: BAB83743.1
AK074435 mRNA Translation: BAB85083.1 Frameshift.
AK094847 mRNA Translation: BAC04435.1
AK315679 mRNA Translation: BAG38044.1
AC087501 Genomic DNA No translation available.
AC118755 Genomic DNA No translation available.
BC025392 mRNA Translation: AAH25392.1
CCDSiCCDS11149.2 [Q8N1V2-1]
CCDS42262.1 [Q8N1V2-3]
RefSeqiNP_001074025.1, NM_001080556.1 [Q8N1V2-3]
NP_659491.4, NM_145054.4 [Q8N1V2-1]
UniGeneiHs.232270

3D structure databases

ProteinModelPortaliQ8N1V2
SMRiQ8N1V2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127014, 12 interactors
IntActiQ8N1V2, 3 interactors
STRINGi9606.ENSP00000339449

PTM databases

iPTMnetiQ8N1V2
PhosphoSitePlusiQ8N1V2

Polymorphism and mutation databases

BioMutaiCFAP52
DMDMi146291099

Proteomic databases

jPOSTiQ8N1V2
PaxDbiQ8N1V2
PeptideAtlasiQ8N1V2
PRIDEiQ8N1V2
ProteomicsDBi71634
71635 [Q8N1V2-2]
71636 [Q8N1V2-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000352665; ENSP00000339449; ENSG00000166596 [Q8N1V2-1]
ENST00000396219; ENSP00000379521; ENSG00000166596 [Q8N1V2-3]
GeneIDi146845
KEGGihsa:146845
UCSCiuc002gly.5 human [Q8N1V2-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
146845
DisGeNETi146845
EuPathDBiHostDB:ENSG00000166596.14

GeneCards: human genes, protein and diseases

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GeneCardsi
CFAP52
HGNCiHGNC:16053 CFAP52
HPAiHPA023247
MalaCardsiCFAP52
MIMi609804 gene
neXtProtiNX_Q8N1V2
OpenTargetsiENSG00000166596
Orphaneti101063 Situs inversus totalis
PharmGKBiPA38084

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG0266 Eukaryota
ENOG410XP3K LUCA
GeneTreeiENSGT00940000157016
HOGENOMiHOG000258436
HOVERGENiHBG055224
InParanoidiQ8N1V2
OMAiAIPNAHN
OrthoDBi185227at2759
PhylomeDBiQ8N1V2
TreeFamiTF323254

Enzyme and pathway databases

SignaLinkiQ8N1V2

Miscellaneous databases

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

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ChiTaRSi
CFAP52 human

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

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GenomeRNAii
146845

Protein Ontology

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PROi
PR:Q8N1V2

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000166596 Expressed in 111 organ(s), highest expression level in bronchial epithelial cell
ExpressionAtlasiQ8N1V2 baseline and differential
GenevisibleiQ8N1V2 HS

Family and domain databases

Gene3Di2.130.10.10, 3 hits
InterProiView protein in InterPro
IPR033015 CFAP52
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR13720:SF14 PTHR13720:SF14, 1 hit
PfamiView protein in Pfam
PF00400 WD40, 5 hits
SMARTiView protein in SMART
SM00320 WD40, 11 hits
SUPFAMiSSF50978 SSF50978, 2 hits
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 2 hits
PS50082 WD_REPEATS_2, 5 hits
PS50294 WD_REPEATS_REGION, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiCFA52_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: Q8N1V2
Secondary accession number(s): B2RDU7
, Q5DX23, Q8TC73, Q8TCI3
<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: May 2, 2006
Last sequence update: May 1, 2007
Last modified: February 13, 2019
This is version 141 of the entry and version 3 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 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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