The new UniProt website is here!
Take me to UniProt BETA
UniProtKB - Q96NL8 (CF418_HUMAN)
Protein
Cilia- and flagella-associated protein 418
Gene
CFAP418
Organism
Homo sapiens (Human)
Status
Functioni
May be involved in photoreceptor outer segment disk morphogenesis (By similarity).
By similarityGO - Biological processi
- photoreceptor cell morphogenesis Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q96NL8 |
SignaLinki | Q96NL8 |
Names & Taxonomyi
Protein namesi | Recommended name: Cilia- and flagella-associated protein 418Imported |
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:27232, CFAP418 |
MIMi | 614477, gene |
neXtProti | NX_Q96NL8 |
VEuPathDBi | HostDB:ENSG00000156172 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm By similarity
Other locations
- Photoreceptor inner segment By similarity
Note: In the retina, located at the base of the primary cilium (PubMed:22177090). Expressed throughout photoreceptors cell body including the basal body, inner segment and synaptic terminus, but not in the outer segment.By similarity1 Publication
Cytosol
- cytosol Source: HPA
Plasma Membrane
- plasma membrane Source: HPA
Other locations
- cell junction Source: HPA
- ciliary base Source: UniProtKB
- cytoplasm Source: UniProtKB
- photoreceptor inner segment Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Cone-rod dystrophy 16 (CORD16)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067305 | 177 | R → W in CORD16 and BBS21. 2 PublicationsCorresponds to variant dbSNP:rs387907136EnsemblClinVar. | 1 |
Retinitis pigmentosa 64 (RP64)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067306 | 182 | Q → R in RP64. 1 PublicationCorresponds to variant dbSNP:rs387907137EnsemblClinVar. | 1 |
Bardet-Biedl syndrome 21 (BBS21)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067305 | 177 | R → W in CORD16 and BBS21. 2 PublicationsCorresponds to variant dbSNP:rs387907136EnsemblClinVar. | 1 |
Keywords - Diseasei
Bardet-Biedl syndrome, Ciliopathy, Cone-rod dystrophy, Disease variant, Obesity, Retinitis pigmentosaOrganism-specific databases
DisGeNETi | 157657 |
GeneReviewsi | CFAP418 |
MalaCardsi | C8orf37 |
MIMi | 614500, phenotype 617406, phenotype |
OpenTargetsi | ENSG00000156172 |
Orphaneti | 110, Bardet-Biedl syndrome 1872, Cone rod dystrophy 791, Retinitis pigmentosa |
PharmGKBi | PA142672356 |
Miscellaneous databases
Pharosi | Q96NL8, Tbio |
Genetic variation databases
BioMutai | C8orf37 |
DMDMi | 74732592 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000271058 | 1 – 207 | Cilia- and flagella-associated protein 418Add BLAST | 207 |
Proteomic databases
EPDi | Q96NL8 |
MassIVEi | Q96NL8 |
MaxQBi | Q96NL8 |
PaxDbi | Q96NL8 |
PeptideAtlasi | Q96NL8 |
PRIDEi | Q96NL8 |
ProteomicsDBi | 77536 |
PTM databases
iPTMneti | Q96NL8 |
PhosphoSitePlusi | Q96NL8 |
Expressioni
Tissue specificityi
Widely expressed, with highest levels in heart and brain. Also expressed in the retina (at protein level).1 Publication
Gene expression databases
Bgeei | ENSG00000156172, Expressed in oviduct epithelium and 180 other tissues |
Genevisiblei | Q96NL8, HS |
Organism-specific databases
HPAi | ENSG00000156172, Low tissue specificity |
Interactioni
Binary interactionsi
Q96NL8
With | #Exp. | IntAct |
---|---|---|
CAPNS1 [P04632] | 2 | EBI-11904873,EBI-711828 |
Protein-protein interaction databases
BioGRIDi | 127610, 5 interactors |
IntActi | Q96NL8, 2 interactors |
STRINGi | 9606.ENSP00000286688 |
Miscellaneous databases
RNActi | Q96NL8, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q96NL8 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 26 – 52 | DisorderedSequence analysisAdd BLAST | 27 |
Phylogenomic databases
eggNOGi | ENOG502S1KM, Eukaryota |
GeneTreei | ENSGT00390000006173 |
HOGENOMi | CLU_092833_0_0_1 |
InParanoidi | Q96NL8 |
OMAi | VVQAHGK |
OrthoDBi | 1589583at2759 |
PhylomeDBi | Q96NL8 |
TreeFami | TF328851 |
Family and domain databases
InterProi | View protein in InterPro IPR029239, CFAP418 |
PANTHERi | PTHR33958, PTHR33958, 1 hit |
Pfami | View protein in Pfam PF14996, RMP, 1 hit |
i Sequence
Sequence statusi: Complete.
Q96NL8-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAEDLDELLD EVESKFCTPD LLRRGMVEQP KGCGGGTHSS DRNQAKAKET
60 70 80 90 100
LRSTETFKKE DDLDSLINEI LEEPNLDKKP SKLKSKSSGN TSVRASIEGL
110 120 130 140 150
GKSCSPVYLG GSSIPCGIGT NISWRACDHL RCIACDFLVV SYDDYMWDKS
160 170 180 190 200
CDYLFFRNNM PEFHKLKAKL IKKKGTRAYA CQCSWRTIEE VTDLQTDHQL
RWVCGKH
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_033683 | 19 | P → A. Corresponds to variant dbSNP:rs36096184EnsemblClinVar. | 1 | |
Natural variantiVAR_067305 | 177 | R → W in CORD16 and BBS21. 2 PublicationsCorresponds to variant dbSNP:rs387907136EnsemblClinVar. | 1 | |
Natural variantiVAR_067306 | 182 | Q → R in RP64. 1 PublicationCorresponds to variant dbSNP:rs387907137EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK055162 mRNA Translation: BAB70866.1 GQ240139 mRNA Translation: ADE62519.1 AP003466 Genomic DNA No translation available. AC024995 Genomic DNA No translation available. CH471060 Genomic DNA Translation: EAW91744.1 CH471060 Genomic DNA Translation: EAW91745.1 |
CCDSi | CCDS6268.1 |
RefSeqi | NP_808880.1, NM_177965.3 |
Genome annotation databases
Ensembli | ENST00000286688.6; ENSP00000286688.5; ENSG00000156172.6 |
GeneIDi | 157657 |
KEGGi | hsa:157657 |
MANE-Selecti | ENST00000286688.6; ENSP00000286688.5; NM_177965.4; NP_808880.1 |
UCSCi | uc003yho.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK055162 mRNA Translation: BAB70866.1 GQ240139 mRNA Translation: ADE62519.1 AP003466 Genomic DNA No translation available. AC024995 Genomic DNA No translation available. CH471060 Genomic DNA Translation: EAW91744.1 CH471060 Genomic DNA Translation: EAW91745.1 |
CCDSi | CCDS6268.1 |
RefSeqi | NP_808880.1, NM_177965.3 |
3D structure databases
AlphaFoldDBi | Q96NL8 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 127610, 5 interactors |
IntActi | Q96NL8, 2 interactors |
STRINGi | 9606.ENSP00000286688 |
PTM databases
iPTMneti | Q96NL8 |
PhosphoSitePlusi | Q96NL8 |
Genetic variation databases
BioMutai | C8orf37 |
DMDMi | 74732592 |
Proteomic databases
EPDi | Q96NL8 |
MassIVEi | Q96NL8 |
MaxQBi | Q96NL8 |
PaxDbi | Q96NL8 |
PeptideAtlasi | Q96NL8 |
PRIDEi | Q96NL8 |
ProteomicsDBi | 77536 |
Protocols and materials databases
Antibodypediai | 12959, 40 antibodies from 9 providers |
DNASUi | 157657 |
Genome annotation databases
Ensembli | ENST00000286688.6; ENSP00000286688.5; ENSG00000156172.6 |
GeneIDi | 157657 |
KEGGi | hsa:157657 |
MANE-Selecti | ENST00000286688.6; ENSP00000286688.5; NM_177965.4; NP_808880.1 |
UCSCi | uc003yho.3, human |
Organism-specific databases
CTDi | 157657 |
DisGeNETi | 157657 |
GeneCardsi | C8orf37 |
GeneReviewsi | CFAP418 |
HGNCi | HGNC:27232, CFAP418 |
HPAi | ENSG00000156172, Low tissue specificity |
MalaCardsi | C8orf37 |
MIMi | 614477, gene 614500, phenotype 617406, phenotype |
neXtProti | NX_Q96NL8 |
OpenTargetsi | ENSG00000156172 |
Orphaneti | 110, Bardet-Biedl syndrome 1872, Cone rod dystrophy 791, Retinitis pigmentosa |
PharmGKBi | PA142672356 |
VEuPathDBi | HostDB:ENSG00000156172 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S1KM, Eukaryota |
GeneTreei | ENSGT00390000006173 |
HOGENOMi | CLU_092833_0_0_1 |
InParanoidi | Q96NL8 |
OMAi | VVQAHGK |
OrthoDBi | 1589583at2759 |
PhylomeDBi | Q96NL8 |
TreeFami | TF328851 |
Enzyme and pathway databases
PathwayCommonsi | Q96NL8 |
SignaLinki | Q96NL8 |
Miscellaneous databases
BioGRID-ORCSi | 157657, 11 hits in 1068 CRISPR screens |
GenomeRNAii | 157657 |
Pharosi | Q96NL8, Tbio |
PROi | PR:Q96NL8 |
RNActi | Q96NL8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000156172, Expressed in oviduct epithelium and 180 other tissues |
Genevisiblei | Q96NL8, HS |
Family and domain databases
InterProi | View protein in InterPro IPR029239, CFAP418 |
PANTHERi | PTHR33958, PTHR33958, 1 hit |
Pfami | View protein in Pfam PF14996, RMP, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | CF418_HUMAN | |
Accessioni | Q96NL8Primary (citable) accession number: Q96NL8 Secondary accession number(s): F4Y588 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 9, 2007 |
Last sequence update: | December 1, 2001 | |
Last modified: | May 25, 2022 | |
This is version 121 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 8
Human chromosome 8: 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