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UniProtKB - O43822 (CF410_HUMAN)

Entry version 175 (10 Feb 2021)
Sequence version 1 (01 Jun 1998)
Previous versions | rss
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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

Complete GO annotation on QuickGO ...

<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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O43822

<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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

Human Gene Nomenclature Database

More...HGNCi		HGNC:1260, CFAP410

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603191, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O43822

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000160226.15

<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 & Seán O’Donoghue; 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 variants 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.
Related information in OMIM
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:rs1057518441EnsemblClinVar.1
Natural variantiVAR_079181107Y → C in RDMS. 1 PublicationCorresponds to variant dbSNP:rs1131690801EnsemblClinVar.1
Spondylometaphyseal dysplasia, axial (SMDAX)4 Publications
The disease is caused by variants 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.
Related information in OMIM
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:rs1114167892EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease variant, Dwarfism

Organism-specific databases

DisGeNET

More...DisGeNETi		755

MalaCards human disease database

More...MalaCardsi		CFAP410
MIMi602271, phenotype
617547, phenotype

Open Targets

More...OpenTargetsi		ENSG00000160226

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

More...Orphaneti		803, Amyotrophic lateral sclerosis
1872, Cone rod dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25816

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O43822, Tbio

Genetic variation 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 or proteolytic cleavage.<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

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O43822

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O43822

MaxQB - The MaxQuant DataBase

More...MaxQBi		O43822

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

More...PaxDbi		O43822

PeptideAtlas

More...PeptideAtlasi		O43822

PRoteomics IDEntifications database

More...PRIDEi		O43822

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		49187 [O43822-1]
49188 [O43822-2]
72105

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O43822

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

More...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

More...Bgeei		ENSG00000160226, Expressed in right uterine tube and 167 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O43822, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000160226, Low tissue specificity

<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%5Fsection">'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%5Fsection">'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%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107211, 25 interactors

Protein interaction database and analysis system

More...IntActi		O43822, 31 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000381047

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O43822, protein

<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

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

More...SMRi		O43822

Database of comparative protein structure models

More...ModBasei		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%5Fand%5Fdomains%5Fsection">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

More...eggNOGi		KOG2123, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000018807

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_062035_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O43822

Identification of Orthologs from Complete Genome Data

More...OMAi		YNMEETN

Database of Orthologous Groups

More...OrthoDBi		1021585at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O43822

TreeFam database of animal gene trees

More...TreeFami		TF326666

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.80.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001611, Leu-rich_rpt
IPR032675, LRR_dom_sf
IPR003603, U2A'_phosphoprotein32A_C

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00446, LRRcap, 1 hit

PROSITE; a protein domain and family database

More...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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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

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:rs1057518441EnsemblClinVar.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:rs1131690801EnsemblClinVar.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:rs9306099EnsemblClinVar.1
Natural variantiVAR_075927224L → P in SMDAX; abolishes interaction with NEK1. 1 PublicationCorresponds to variant dbSNP:rs1114167892EnsemblClinVar.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

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

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

NCBI Reference Sequences

More...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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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

Database of genes from NCBI RefSeq genomes

More...GeneIDi		755

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:755

UCSC genome browser

More...UCSCi		uc002zep.2, human [O43822-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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]

3D structure databases

SMRiO43822
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi107211, 25 interactors
IntActiO43822, 31 interactors
STRINGi9606.ENSP00000381047

PTM databases

iPTMnetiO43822
PhosphoSitePlusiO43822

Genetic variation databases

BioMutaiC21orf2

Proteomic databases

jPOSTiO43822
MassIVEiO43822
MaxQBiO43822
PaxDbiO43822
PeptideAtlasiO43822
PRIDEiO43822
ProteomicsDBi49187 [O43822-1]
49188 [O43822-2]
72105

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		24213, 152 antibodies

The DNASU plasmid repository

More...DNASUi		755

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

More...CTDi		755
DisGeNETi755

GeneCards: human genes, protein and diseases

More...GeneCardsi		CFAP410
HGNCiHGNC:1260, CFAP410
HPAiENSG00000160226, Low tissue specificity
MalaCardsiCFAP410
MIMi602271, phenotype
603191, gene
617547, phenotype
neXtProtiNX_O43822
OpenTargetsiENSG00000160226
Orphaneti803, Amyotrophic lateral sclerosis
1872, Cone rod dystrophy
PharmGKBiPA25816
VEuPathDBiHostDB:ENSG00000160226.15

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2123, Eukaryota
GeneTreeiENSGT00390000018807
HOGENOMiCLU_062035_2_0_1
InParanoidiO43822
OMAiYNMEETN
OrthoDBi1021585at2759
PhylomeDBiO43822
TreeFamiTF326666

Enzyme and pathway databases

PathwayCommonsiO43822

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		755, 53 hits in 879 CRISPR screens

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

More...ChiTaRSi		C21orf2, human

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

More...GenomeRNAii		755
PharosiO43822, Tbio

Protein Ontology

More...PROi		PR:O43822
RNActiO43822, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000160226, Expressed in right uterine tube and 167 other tissues
GenevisibleiO43822, HS

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR001611, Leu-rich_rpt
IPR032675, LRR_dom_sf
IPR003603, U2A'_phosphoprotein32A_C
SMARTiView protein in SMART
SM00446, LRRcap, 1 hit
PROSITEiView protein in PROSITE
PS51450, LRR, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 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%5Fand%5Fisoforms">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 10, 2021
This is version 175 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

Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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