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Entry version 160 (13 Feb 2019)
Sequence version 1 (01 Jun 1998)
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Protein

Cilia- and flagella-associated protein 410

Gene

CFAP410

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

Plays a role in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). Involved in DNA damage repair (PubMed:26290490).By similarity2 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 - Biological processi

  • cilium assembly Source: GO_Central
  • cilium movement involved in cell motility Source: GO_Central
  • cytoskeleton organization Source: UniProtKB
  • DNA damage response, detection of DNA damage Source: UniProtKB
  • motile cilium assembly Source: GO_Central
  • regulation of cell shape Source: UniProtKB
  • smoothened signaling pathway Source: Ensembl

<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>Keywordsi

Biological processCilium biogenesis/degradation, DNA damage

<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 410Imported
Alternative name(s):
C21orf-HUMF09G8.5
Leucine-rich repeat-containing protein 76
YF5/A2
<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:CFAP410Imported
Synonyms:C21orf2Imported, LRRC76
<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 21

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000160226.15

Human Gene Nomenclature Database

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HGNCi
HGNC:1260 CFAP410

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603191 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43822

<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

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton, Mitochondrion

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Retinal dystrophy with or without macular staphyloma (RDMS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn ocular disorder characterized by decreased vision which worsen over time, and dystrophic changes in the retina, such as retinal pigment epithelium mottling and vessel narrowing. Macular staphyloma, without high myopia, is present in some patients.
See also OMIM:617547
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_07918061C → Y in RDMS. 1 PublicationCorresponds to variant dbSNP:rs1057518441Ensembl.1
Natural variantiVAR_079181107Y → C in RDMS. 1 PublicationCorresponds to variant dbSNP:rs1131690801Ensembl.1
Spondylometaphyseal dysplasia, axial (SMDAX)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDAX is characterized by metaphyseal changes of truncal-juxtatruncal bones, including the proximal femora. Main clinical features are postnatal growth failure, rhizomelic short stature in early childhood evolving into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and function rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on fundoscopic examination and cone-rod dystrophy on electroretinogram. The radiological hallmarks include short ribs with flared, cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora.
See also OMIM:602271
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07592473R → P in SMDAX; patients may exhibit clinical features overlapping with Jeune syndrome; decreased function in ciliogenesis; abolishes interaction with NEK1. 3 PublicationsCorresponds to variant dbSNP:rs140451304EnsemblClinVar.1
Natural variantiVAR_075925107Y → H in SMDAX; increases protein degradation; changes protein localization. 2 PublicationsCorresponds to variant dbSNP:rs763623409EnsemblClinVar.1
Natural variantiVAR_079182111V → M in SMDAX; increases protein degradation; changes protein localization. 1 PublicationCorresponds to variant dbSNP:rs555164150EnsemblClinVar.1
Natural variantiVAR_075926116P → L in SMDAX. 1 PublicationCorresponds to variant dbSNP:rs922930539EnsemblClinVar.1
Natural variantiVAR_075927224L → P in SMDAX; abolishes interaction with NEK1. 1 PublicationCorresponds to variant dbSNP:rs1114167892Ensembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...
DisGeNETi
755

MalaCards human disease database

More...
MalaCardsi
C21orf2
MIMi602271 phenotype
617547 phenotype

Open Targets

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OpenTargetsi
ENSG00000160226

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

More...
Orphaneti
803 Amyotrophic lateral sclerosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25816

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
C21orf2

<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_00000795031 – 256Cilia- and flagella-associated protein 410Add BLAST256

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 residuei136PhosphoserineCombined sources1
Modified residuei177PhosphoserineCombined sources1
Isoform 3 (identifier: O43822-3)
Modified residuei177PhosphoserineCombined sources1
Isoform 4 (identifier: O43822-4)
Modified residuei177PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O43822

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O43822

MaxQB - The MaxQuant DataBase

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MaxQBi
O43822

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

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PaxDbi
O43822

PeptideAtlas

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PeptideAtlasi
O43822

PRoteomics IDEntifications database

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PRIDEi
O43822

ProteomicsDB human proteome resource

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ProteomicsDBi
49187
49188 [O43822-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O43822

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

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PhosphoSitePlusi
O43822

<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

Widely expressed (PubMed:26974433, PubMed:9325172). Expressed in the retina (PubMed:26294103).

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000160226 Expressed in 152 organ(s), highest expression level in right uterine tube

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O43822 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB034126
CAB034128
HPA030284

<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

Found in a complex with CFAP410, NEK1 and SPATA7 (PubMed:26167768). Interacts with NEK1 (PubMed:26290490, PubMed:26167768).2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107211, 24 interactors

Protein interaction database and analysis system

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IntActi
O43822, 17 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000344566

<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
O43822

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

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SMRi
O43822

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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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>Repeati19 – 40LRR 1Add BLAST22
Repeati41 – 62LRR 2Add BLAST22
Repeati63 – 84LRR 3Add BLAST22
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini97 – 137LRRCTAdd BLAST41

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2123 Eukaryota
ENOG410Y9AE LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000018807

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000006955

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG051221

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O43822

Identification of Orthologs from Complete Genome Data

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OMAi
YNMEETN

Database of Orthologous Groups

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OrthoDBi
1021585at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O43822

TreeFam database of animal gene trees

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TreeFami
TF326666

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.80.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR037390 CFAP410
IPR001611 Leu-rich_rpt
IPR032675 LRR_dom_sf
IPR003603 U2A'_phosphoprotein32A_C

The PANTHER Classification System

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PANTHERi
PTHR18849 PTHR18849, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00446 LRRcap, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51450 LRR, 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 (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
Isoform Long (identifier: O43822-1) [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
MKLTRKMVLT RAKASELHSV RKLNCWGSRL TDISICQEMP SLEVITLSVN
60 70 80 90 100
SISTLEPVSR CQRLSELYLR RNRIPSLAEL FYLKGLPRLR VLWLAENPCC
110 120 130 140 150
GTSPHRYRMT VLRTLPRLQK LDNQAVTEEE LSRALSEGEE ITAAPEREGT
160 170 180 190 200
GHGGPKLCCT LSSLSSAAET GRDPLDSEEE ATSGAQDERG LKPPSRGQFP
210 220 230 240 250
SLSARDASSS HRGRNVLTAI LLLLRELDAE GLEAVQQTVG SRLQALRGEE

VQEHAE
Length:256
Mass (Da):28,340
Last modified:June 1, 1998 - v1
<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:iD33F31EDAEA77D2A
GO
Isoform Short (identifier: O43822-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: Missing.
     49-51: Missing.

Show »
Length:215
Mass (Da):23,654
Checksum:iFB0E3948D4D824FC
GO
Isoform 3 (identifier: O43822-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     183-183: Missing.

Show »
Length:255
Mass (Da):28,253
Checksum:i3F8A687DB91FD36D
GO
Isoform 4 (identifier: O43822-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     183-183: Missing.
     214-214: R → RVSGGPLGAA...LLCSDSPSVP

Note: No experimental confirmation available.Combined sources
Show »
Length:375
Mass (Da):40,422
Checksum:i69428D80A40006BC
GO

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 conflicti106R → A in AAB46590 (Ref. 3) Curated1
Sequence conflicti106R → A in AAB46591 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07918061C → Y in RDMS. 1 PublicationCorresponds to variant dbSNP:rs1057518441Ensembl.1
Natural variantiVAR_07592473R → P in SMDAX; patients may exhibit clinical features overlapping with Jeune syndrome; decreased function in ciliogenesis; abolishes interaction with NEK1. 3 PublicationsCorresponds to variant dbSNP:rs140451304EnsemblClinVar.1
Natural variantiVAR_079181107Y → C in RDMS. 1 PublicationCorresponds to variant dbSNP:rs1131690801Ensembl.1
Natural variantiVAR_075925107Y → H in SMDAX; increases protein degradation; changes protein localization. 2 PublicationsCorresponds to variant dbSNP:rs763623409EnsemblClinVar.1
Natural variantiVAR_079182111V → M in SMDAX; increases protein degradation; changes protein localization. 1 PublicationCorresponds to variant dbSNP:rs555164150EnsemblClinVar.1
Natural variantiVAR_075926116P → L in SMDAX. 1 PublicationCorresponds to variant dbSNP:rs922930539EnsemblClinVar.1
Natural variantiVAR_016155150T → I1 PublicationCorresponds to variant dbSNP:rs2277809EnsemblClinVar.1
Natural variantiVAR_050927153G → S. Corresponds to variant dbSNP:rs9306099Ensembl.1
Natural variantiVAR_075927224L → P in SMDAX; abolishes interaction with NEK1. 1 PublicationCorresponds to variant dbSNP:rs1114167892Ensembl.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_0041381 – 38Missing in isoform Short. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_00413949 – 51Missing in isoform Short. 1 Publication3
Alternative sequenceiVSP_047417183Missing in isoform 3 and isoform 4. 2 Publications1
Alternative sequenceiVSP_047418214R → RVSGGPLGAAAASAHCTHCT ETVGREHGASQGPVGREHGA SQGLEELCPRGSCVCGSVNA HTRVTRAPHGAVLAPQPLLL SWSVECGPGPCWAEGNRSHV EEVPHTRPQAGLLCSDSPSV P in 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
Y11392 mRNA Translation: CAA72202.1
Z93322 mRNA Translation: CAB07532.1
U84569 mRNA Translation: AAB46590.1
U84570 mRNA Translation: AAB46591.1
AP001062 Genomic DNA No translation available.
AP001754 Genomic DNA Translation: BAA95562.1
CH471079 Genomic DNA Translation: EAX09432.1
CH471079 Genomic DNA Translation: EAX09434.1
BC031300 mRNA Translation: AAH31300.1
BC072012 mRNA Translation: AAH72012.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS13709.1 [O43822-1]
CCDS59444.1 [O43822-4]
CCDS59445.1 [O43822-3]

NCBI Reference Sequences

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RefSeqi
NP_001258369.1, NM_001271440.1 [O43822-3]
NP_001258370.1, NM_001271441.1 [O43822-4]
NP_001258371.1, NM_001271442.1
NP_004919.1, NM_004928.2 [O43822-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.517331

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000325223; ENSP00000317302; ENSG00000160226 [O43822-3]
ENST00000339818; ENSP00000344566; ENSG00000160226 [O43822-1]
ENST00000397956; ENSP00000381047; ENSG00000160226 [O43822-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
755

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:755

UCSC genome browser

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UCSCi
uc002zep.2 human [O43822-1]

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
Y11392 mRNA Translation: CAA72202.1
Z93322 mRNA Translation: CAB07532.1
U84569 mRNA Translation: AAB46590.1
U84570 mRNA Translation: AAB46591.1
AP001062 Genomic DNA No translation available.
AP001754 Genomic DNA Translation: BAA95562.1
CH471079 Genomic DNA Translation: EAX09432.1
CH471079 Genomic DNA Translation: EAX09434.1
BC031300 mRNA Translation: AAH31300.1
BC072012 mRNA Translation: AAH72012.1
CCDSiCCDS13709.1 [O43822-1]
CCDS59444.1 [O43822-4]
CCDS59445.1 [O43822-3]
RefSeqiNP_001258369.1, NM_001271440.1 [O43822-3]
NP_001258370.1, NM_001271441.1 [O43822-4]
NP_001258371.1, NM_001271442.1
NP_004919.1, NM_004928.2 [O43822-1]
UniGeneiHs.517331

3D structure databases

ProteinModelPortaliO43822
SMRiO43822
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107211, 24 interactors
IntActiO43822, 17 interactors
STRINGi9606.ENSP00000344566

PTM databases

iPTMnetiO43822
PhosphoSitePlusiO43822

Polymorphism and mutation databases

BioMutaiC21orf2

Proteomic databases

EPDiO43822
jPOSTiO43822
MaxQBiO43822
PaxDbiO43822
PeptideAtlasiO43822
PRIDEiO43822
ProteomicsDBi49187
49188 [O43822-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
755
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000325223; ENSP00000317302; ENSG00000160226 [O43822-3]
ENST00000339818; ENSP00000344566; ENSG00000160226 [O43822-1]
ENST00000397956; ENSP00000381047; ENSG00000160226 [O43822-4]
GeneIDi755
KEGGihsa:755
UCSCiuc002zep.2 human [O43822-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
755
DisGeNETi755
EuPathDBiHostDB:ENSG00000160226.15

GeneCards: human genes, protein and diseases

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GeneCardsi
C21orf2

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0016167
HIX0016168
HGNCiHGNC:1260 CFAP410
HPAiCAB034126
CAB034128
HPA030284
MalaCardsiC21orf2
MIMi602271 phenotype
603191 gene
617547 phenotype
neXtProtiNX_O43822
OpenTargetsiENSG00000160226
Orphaneti803 Amyotrophic lateral sclerosis
PharmGKBiPA25816

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2123 Eukaryota
ENOG410Y9AE LUCA
GeneTreeiENSGT00390000018807
HOGENOMiHOG000006955
HOVERGENiHBG051221
InParanoidiO43822
OMAiYNMEETN
OrthoDBi1021585at2759
PhylomeDBiO43822
TreeFamiTF326666

Miscellaneous databases

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

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ChiTaRSi
C21orf2 human

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

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GenomeRNAii
755

Protein Ontology

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PROi
PR:O43822

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000160226 Expressed in 152 organ(s), highest expression level in right uterine tube
GenevisibleiO43822 HS

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR037390 CFAP410
IPR001611 Leu-rich_rpt
IPR032675 LRR_dom_sf
IPR003603 U2A'_phosphoprotein32A_C
PANTHERiPTHR18849 PTHR18849, 1 hit
SMARTiView protein in SMART
SM00446 LRRcap, 1 hit
PROSITEiView protein in PROSITE
PS51450 LRR, 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 nameiCF410_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: O43822
Secondary accession number(s): A8MPS9
, O14993, Q8N5X6, Q99837, Q99838
<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: July 15, 1998
Last sequence update: June 1, 1998
Last modified: February 13, 2019
This is version 160 of the entry and version 1 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 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  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
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