UniProtKB - O43822 (CF410_HUMAN)
Protein
Cilia- and flagella-associated protein 410
Gene
CFAP410
Organism
Homo sapiens (Human)
Status
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
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
Keywordsi
Biological process | Cilium biogenesis/degradation, DNA damage |
Names & Taxonomyi
Protein namesi | Recommended name: Cilia- and flagella-associated protein 410ImportedAlternative name(s): C21orf-HUMF09G8.5 Leucine-rich repeat-containing protein 76 YF5/A2 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000160226.15 |
HGNCi | HGNC:1260 CFAP410 |
MIMi | 603191 gene |
neXtProti | NX_O43822 |
Subcellular locationi
Cytoskeleton
- cilium basal body 2 Publications
Mitochondrion
- Mitochondrion 1 Publication
Other locations
- photoreceptor outer segment 1 Publication
- Cytoplasm 1 Publication
Note: Colocalizes with NEK1 and SPATA7 at the basal body.1 Publication
Cytoskeleton
- ciliary basal body Source: UniProtKB
Mitochondrion
- mitochondrion Source: UniProtKB
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- cilium Source: GO_Central
- cytoplasm Source: UniProtKB
- motile cilium Source: GO_Central
- photoreceptor connecting cilium Source: UniProtKB
- photoreceptor outer segment Source: UniProtKB
Keywords - Cellular componenti
Cell projection, Cytoplasm, Cytoskeleton, MitochondrionPathology & Biotechi
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:617547Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079180 | 61 | C → Y in RDMS. 1 PublicationCorresponds to variant dbSNP:rs1057518441Ensembl. | 1 | |
Natural variantiVAR_079181 | 107 | Y → 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:602271Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075924 | 73 | R → 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_075925 | 107 | Y → H in SMDAX; increases protein degradation; changes protein localization. 2 PublicationsCorresponds to variant dbSNP:rs763623409EnsemblClinVar. | 1 | |
Natural variantiVAR_079182 | 111 | V → M in SMDAX; increases protein degradation; changes protein localization. 1 PublicationCorresponds to variant dbSNP:rs555164150EnsemblClinVar. | 1 | |
Natural variantiVAR_075926 | 116 | P → L in SMDAX. 1 PublicationCorresponds to variant dbSNP:rs922930539EnsemblClinVar. | 1 | |
Natural variantiVAR_075927 | 224 | L → P in SMDAX; abolishes interaction with NEK1. 1 PublicationCorresponds to variant dbSNP:rs1114167892Ensembl. | 1 |
Keywords - Diseasei
Ciliopathy, Disease mutation, DwarfismOrganism-specific databases
DisGeNETi | 755 |
MalaCardsi | C21orf2 |
MIMi | 602271 phenotype 617547 phenotype |
OpenTargetsi | ENSG00000160226 |
Orphaneti | 803 Amyotrophic lateral sclerosis |
PharmGKBi | PA25816 |
Polymorphism and mutation databases
BioMutai | C21orf2 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000079503 | 1 – 256 | Cilia- and flagella-associated protein 410Add BLAST | 256 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Modified residuei | 136 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 177 | PhosphoserineCombined sources | 1 | ||
Isoform 3 (identifier: O43822-3) | |||||
Modified residuei | 177 | PhosphoserineCombined sources | 1 | ||
Isoform 4 (identifier: O43822-4) | |||||
Modified residuei | 177 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | O43822 |
jPOSTi | O43822 |
MaxQBi | O43822 |
PaxDbi | O43822 |
PeptideAtlasi | O43822 |
PRIDEi | O43822 |
ProteomicsDBi | 49187 49188 [O43822-2] |
PTM databases
iPTMneti | O43822 |
PhosphoSitePlusi | O43822 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000160226 Expressed in 152 organ(s), highest expression level in right uterine tube |
Genevisiblei | O43822 HS |
Organism-specific databases
HPAi | CAB034126 CAB034128 HPA030284 |
Interactioni
Subunit structurei
Found in a complex with CFAP410, NEK1 and SPATA7 (PubMed:26167768). Interacts with NEK1 (PubMed:26290490, PubMed:26167768).2 Publications
Binary interactionsi
Protein-protein interaction databases
BioGridi | 107211, 24 interactors |
IntActi | O43822, 17 interactors |
STRINGi | 9606.ENSP00000344566 |
Structurei
3D structure databases
ProteinModelPortali | O43822 |
SMRi | O43822 |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 19 – 40 | LRR 1Add BLAST | 22 | |
Repeati | 41 – 62 | LRR 2Add BLAST | 22 | |
Repeati | 63 – 84 | LRR 3Add BLAST | 22 | |
Domaini | 97 – 137 | LRRCTAdd BLAST | 41 |
Keywords - Domaini
Leucine-rich repeat, RepeatPhylogenomic databases
eggNOGi | KOG2123 Eukaryota ENOG410Y9AE LUCA |
GeneTreei | ENSGT00390000018807 |
HOGENOMi | HOG000006955 |
HOVERGENi | HBG051221 |
InParanoidi | O43822 |
OMAi | YNMEETN |
OrthoDBi | 1021585at2759 |
PhylomeDBi | O43822 |
TreeFami | TF326666 |
Family and domain databases
Gene3Di | 3.80.10.10, 1 hit |
InterProi | View protein in InterPro IPR037390 CFAP410 IPR001611 Leu-rich_rpt IPR032675 LRR_dom_sf IPR003603 U2A'_phosphoprotein32A_C |
PANTHERi | PTHR18849 PTHR18849, 1 hit |
SMARTi | View protein in SMART SM00446 LRRcap, 1 hit |
PROSITEi | View protein in PROSITE PS51450 LRR, 2 hits |
s (4)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketIsoform 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.
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
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.
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 106 | R → A in AAB46590 (Ref. 3) Curated | 1 | |
Sequence conflicti | 106 | R → A in AAB46591 (Ref. 3) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079180 | 61 | C → Y in RDMS. 1 PublicationCorresponds to variant dbSNP:rs1057518441Ensembl. | 1 | |
Natural variantiVAR_075924 | 73 | R → 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_079181 | 107 | Y → C in RDMS. 1 PublicationCorresponds to variant dbSNP:rs1131690801Ensembl. | 1 | |
Natural variantiVAR_075925 | 107 | Y → H in SMDAX; increases protein degradation; changes protein localization. 2 PublicationsCorresponds to variant dbSNP:rs763623409EnsemblClinVar. | 1 | |
Natural variantiVAR_079182 | 111 | V → M in SMDAX; increases protein degradation; changes protein localization. 1 PublicationCorresponds to variant dbSNP:rs555164150EnsemblClinVar. | 1 | |
Natural variantiVAR_075926 | 116 | P → L in SMDAX. 1 PublicationCorresponds to variant dbSNP:rs922930539EnsemblClinVar. | 1 | |
Natural variantiVAR_016155 | 150 | T → I1 PublicationCorresponds to variant dbSNP:rs2277809EnsemblClinVar. | 1 | |
Natural variantiVAR_050927 | 153 | G → S. Corresponds to variant dbSNP:rs9306099Ensembl. | 1 | |
Natural variantiVAR_075927 | 224 | L → P in SMDAX; abolishes interaction with NEK1. 1 PublicationCorresponds to variant dbSNP:rs1114167892Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_004138 | 1 – 38 | Missing in isoform Short. 1 PublicationAdd BLAST | 38 | |
Alternative sequenceiVSP_004139 | 49 – 51 | Missing in isoform Short. 1 Publication | 3 | |
Alternative sequenceiVSP_047417 | 183 | Missing in isoform 3 and isoform 4. 2 Publications | 1 | |
Alternative sequenceiVSP_047418 | 214 | R → RVSGGPLGAAAASAHCTHCT ETVGREHGASQGPVGREHGA SQGLEELCPRGSCVCGSVNA HTRVTRAPHGAVLAPQPLLL SWSVECGPGPCWAEGNRSHV EEVPHTRPQAGLLCSDSPSV P in isoform 4. 1 Publication | 1 |
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 |
CCDSi | CCDS13709.1 [O43822-1] CCDS59444.1 [O43822-4] CCDS59445.1 [O43822-3] |
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] |
UniGenei | Hs.517331 |
Genome annotation databases
Ensembli | ENST00000325223; ENSP00000317302; ENSG00000160226 [O43822-3] ENST00000339818; ENSP00000344566; ENSG00000160226 [O43822-1] ENST00000397956; ENSP00000381047; ENSG00000160226 [O43822-4] |
GeneIDi | 755 |
KEGGi | hsa:755 |
UCSCi | uc002zep.2 human [O43822-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS13709.1 [O43822-1] CCDS59444.1 [O43822-4] CCDS59445.1 [O43822-3] |
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] |
UniGenei | Hs.517331 |
3D structure databases
ProteinModelPortali | O43822 |
SMRi | O43822 |
ModBasei | Search... |
MobiDBi | Search... |
Protein-protein interaction databases
BioGridi | 107211, 24 interactors |
IntActi | O43822, 17 interactors |
STRINGi | 9606.ENSP00000344566 |
PTM databases
iPTMneti | O43822 |
PhosphoSitePlusi | O43822 |
Polymorphism and mutation databases
BioMutai | C21orf2 |
Proteomic databases
EPDi | O43822 |
jPOSTi | O43822 |
MaxQBi | O43822 |
PaxDbi | O43822 |
PeptideAtlasi | O43822 |
PRIDEi | O43822 |
ProteomicsDBi | 49187 49188 [O43822-2] |
Protocols and materials databases
DNASUi | 755 |
Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembli | ENST00000325223; ENSP00000317302; ENSG00000160226 [O43822-3] ENST00000339818; ENSP00000344566; ENSG00000160226 [O43822-1] ENST00000397956; ENSP00000381047; ENSG00000160226 [O43822-4] |
GeneIDi | 755 |
KEGGi | hsa:755 |
UCSCi | uc002zep.2 human [O43822-1] |
Organism-specific databases
CTDi | 755 |
DisGeNETi | 755 |
EuPathDBi | HostDB:ENSG00000160226.15 |
GeneCardsi | C21orf2 |
H-InvDBi | HIX0016167 HIX0016168 |
HGNCi | HGNC:1260 CFAP410 |
HPAi | CAB034126 CAB034128 HPA030284 |
MalaCardsi | C21orf2 |
MIMi | 602271 phenotype 603191 gene 617547 phenotype |
neXtProti | NX_O43822 |
OpenTargetsi | ENSG00000160226 |
Orphaneti | 803 Amyotrophic lateral sclerosis |
PharmGKBi | PA25816 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2123 Eukaryota ENOG410Y9AE LUCA |
GeneTreei | ENSGT00390000018807 |
HOGENOMi | HOG000006955 |
HOVERGENi | HBG051221 |
InParanoidi | O43822 |
OMAi | YNMEETN |
OrthoDBi | 1021585at2759 |
PhylomeDBi | O43822 |
TreeFami | TF326666 |
Miscellaneous databases
ChiTaRSi | C21orf2 human |
GenomeRNAii | 755 |
PROi | PR:O43822 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000160226 Expressed in 152 organ(s), highest expression level in right uterine tube |
Genevisiblei | O43822 HS |
Family and domain databases
Gene3Di | 3.80.10.10, 1 hit |
InterProi | View protein in InterPro IPR037390 CFAP410 IPR001611 Leu-rich_rpt IPR032675 LRR_dom_sf IPR003603 U2A'_phosphoprotein32A_C |
PANTHERi | PTHR18849 PTHR18849, 1 hit |
SMARTi | View protein in SMART SM00446 LRRcap, 1 hit |
PROSITEi | View protein in PROSITE PS51450 LRR, 2 hits |
ProtoNeti | Search... |
Entry informationi
Entry namei | CF410_HUMAN | |
Accessioni | O43822Primary (citable) accession number: O43822 Secondary accession number(s): A8MPS9 Q99838 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Complete proteome, Reference proteomeDocuments
- Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations