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
- cytoskeleton organization Source: UniProtKB
- DNA damage response, detection of DNA damage Source: UniProtKB
- regulation of cell shape Source: UniProtKB
Keywordsi
Biological process | Cilium biogenesis/degradation, DNA damage |
Enzyme and pathway databases
PathwayCommonsi | O43822 |
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
HGNCi | HGNC:1260, CFAP410 |
MIMi | 603191, gene |
neXtProti | NX_O43822 |
VEuPathDBi | HostDB:ENSG00000160226.15 |
Subcellular locationi
Mitochondrion
- Mitochondrion 1 Publication
Cytoskeleton
- cilium basal body 2 Publications
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
Cytosol
- cytosol Source: HPA
Mitochondrion
- mitochondrion Source: UniProtKB
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- intracellular membrane-bounded organelle Source: HPA
- 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 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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079180 | 61 | C → Y in RDMS. 1 PublicationCorresponds to variant dbSNP:rs1057518441EnsemblClinVar. | 1 | |
Natural variantiVAR_079181 | 107 | Y → 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 OMIMFeature 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:rs1114167892EnsemblClinVar. | 1 |
Keywords - Diseasei
Ciliopathy, Disease variant, DwarfismOrganism-specific databases
DisGeNETi | 755 |
MalaCardsi | CFAP410 |
MIMi | 602271, phenotype 617547, phenotype |
OpenTargetsi | ENSG00000160226 |
Orphaneti | 803, Amyotrophic lateral sclerosis 1872, Cone rod dystrophy |
PharmGKBi | PA25816 |
Miscellaneous databases
Pharosi | O43822, Tbio |
Genetic variation 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
jPOSTi | O43822 |
MassIVEi | O43822 |
MaxQBi | O43822 |
PaxDbi | O43822 |
PeptideAtlasi | O43822 |
PRIDEi | O43822 |
ProteomicsDBi | 49187 [O43822-1] 49188 [O43822-2] 72105 |
PTM databases
iPTMneti | O43822 |
PhosphoSitePlusi | O43822 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000160226, Expressed in right uterine tube and 167 other tissues |
Genevisiblei | O43822, HS |
Organism-specific databases
HPAi | ENSG00000160226, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsO43822
With | #Exp. | IntAct |
---|---|---|
ATOX1 [O00244] | 3 | EBI-2835332,EBI-10179267 |
FLJ13057 [Q53SE7] | 3 | EBI-2835332,EBI-10172181 |
Isoform 4 [O43822-4]
With | #Exp. | IntAct |
---|---|---|
GMCL1 [Q96IK5] | 3 | EBI-11943144,EBI-2548508 |
SPG21 [Q9NZD8] | 3 | EBI-11943144,EBI-742688 |
Protein-protein interaction databases
BioGRIDi | 107211, 25 interactors |
IntActi | O43822, 31 interactors |
STRINGi | 9606.ENSP00000381047 |
Miscellaneous databases
RNActi | O43822, protein |
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 |
GeneTreei | ENSGT00390000018807 |
HOGENOMi | CLU_062035_2_0_1 |
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 IPR001611, Leu-rich_rpt IPR032675, LRR_dom_sf IPR003603, U2A'_phosphoprotein32A_C |
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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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:rs1057518441EnsemblClinVar. | 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:rs1131690801EnsemblClinVar. | 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:rs9306099EnsemblClinVar. | 1 | |
Natural variantiVAR_075927 | 224 | L → P in SMDAX; abolishes interaction with NEK1. 1 PublicationCorresponds to variant dbSNP:rs1114167892EnsemblClinVar. | 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] |
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 splicingSimilar 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] |
3D structure databases
SMRi | O43822 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107211, 25 interactors |
IntActi | O43822, 31 interactors |
STRINGi | 9606.ENSP00000381047 |
PTM databases
iPTMneti | O43822 |
PhosphoSitePlusi | O43822 |
Genetic variation databases
BioMutai | C21orf2 |
Proteomic databases
jPOSTi | O43822 |
MassIVEi | O43822 |
MaxQBi | O43822 |
PaxDbi | O43822 |
PeptideAtlasi | O43822 |
PRIDEi | O43822 |
ProteomicsDBi | 49187 [O43822-1] 49188 [O43822-2] 72105 |
Protocols and materials databases
Antibodypediai | 24213, 152 antibodies |
DNASUi | 755 |
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 |
GeneCardsi | CFAP410 |
HGNCi | HGNC:1260, CFAP410 |
HPAi | ENSG00000160226, Low tissue specificity |
MalaCardsi | CFAP410 |
MIMi | 602271, phenotype 603191, gene 617547, phenotype |
neXtProti | NX_O43822 |
OpenTargetsi | ENSG00000160226 |
Orphaneti | 803, Amyotrophic lateral sclerosis 1872, Cone rod dystrophy |
PharmGKBi | PA25816 |
VEuPathDBi | HostDB:ENSG00000160226.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2123, Eukaryota |
GeneTreei | ENSGT00390000018807 |
HOGENOMi | CLU_062035_2_0_1 |
InParanoidi | O43822 |
OMAi | YNMEETN |
OrthoDBi | 1021585at2759 |
PhylomeDBi | O43822 |
TreeFami | TF326666 |
Enzyme and pathway databases
PathwayCommonsi | O43822 |
Miscellaneous databases
BioGRID-ORCSi | 755, 53 hits in 879 CRISPR screens |
ChiTaRSi | C21orf2, human |
GenomeRNAii | 755 |
Pharosi | O43822, Tbio |
PROi | PR:O43822 |
RNActi | O43822, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000160226, Expressed in right uterine tube and 167 other tissues |
Genevisiblei | O43822, HS |
Family and domain databases
Gene3Di | 3.80.10.10, 1 hit |
InterProi | View protein in InterPro IPR001611, Leu-rich_rpt IPR032675, LRR_dom_sf IPR003603, U2A'_phosphoprotein32A_C |
SMARTi | View protein in SMART SM00446, LRRcap, 1 hit |
PROSITEi | View protein in PROSITE PS51450, LRR, 2 hits |
ProtoNeti | Search... |
MobiDBi | 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 10, 2021 | |
This is version 175 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
Reference proteomeDocuments
- Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot