UniProtKB - Q9Y592 (CEP83_HUMAN)
Centrosomal protein of 83 kDa
CEP83
Functioni
Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. May collaborate with IFT20 in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium during the initiation of primary cilium assembly.
2 PublicationsGO - Molecular functioni
- identical protein binding Source: IntAct
GO - Biological processi
- cilium assembly Source: UniProtKB
- establishment of centrosome localization Source: Ensembl
- protein localization to centrosome Source: MGI
- vesicle docking Source: UniProtKB
Keywordsi
Biological process | Cilium biogenesis/degradation |
Enzyme and pathway databases
PathwayCommonsi | Q9Y592 |
Reactomei | R-HSA-5620912, Anchoring of the basal body to the plasma membrane |
SignaLinki | Q9Y592 |
Names & Taxonomyi
Protein namesi | Recommended name: Centrosomal protein of 83 kDaShort name: Cep83 Alternative name(s): Coiled-coil domain-containing protein 41 Renal carcinoma antigen NY-REN-58 |
Gene namesi | Name:CEP83 Synonyms:CCDC41 |
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:17966, CEP83 |
MIMi | 615847, gene |
neXtProti | NX_Q9Y592 |
VEuPathDBi | HostDB:ENSG00000173588 |
Subcellular locationi
Cytoskeleton
- centriole 2 Publications
Note: Localizes specifically to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane. Localizes to centrioles at all stages of the cell cycle, including mitosis.
Cytoskeleton
- centriole Source: UniProtKB
Cytosol
- cytosol Source: Reactome
Golgi apparatus
- Golgi apparatus Source: MGI
Other locations
- ciliary transition fiber Source: MGI
Keywords - Cellular componenti
Cytoplasm, CytoskeletonPathology & Biotechi
Involvement in diseasei
Nephronophthisis 18 (NPHP18)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071266 | 87 | L → P in NPHP18; does not affect interaction with CEP164 and IFT20. 1 Publication | 1 | |
Natural variantiVAR_071267 | 112 – 117 | Missing in NPHP18; does not affect interaction with CEP164 and IFT20. 1 Publication | 6 | |
Natural variantiVAR_071268 | 511 | R → P in NPHP18; does not interact with CEP164 and IFT20. 1 PublicationCorresponds to variant dbSNP:rs587777487EnsemblClinVar. | 1 | |
Natural variantiVAR_071269 | 684 | Missing in NPHP18; accumulates in the nucleus. 1 Publication | 1 | |
Natural variantiVAR_071270 | 692 | Missing in NPHP18; accumulates in the nucleus; does not interact with CEP164 and IFT20. 1 Publication | 1 |
Keywords - Diseasei
Ciliopathy, Disease variant, NephronophthisisOrganism-specific databases
DisGeNETi | 51134 |
GeneReviewsi | CEP83 |
MalaCardsi | CEP83 |
MIMi | 615862, phenotype |
OpenTargetsi | ENSG00000173588 |
Orphaneti | 93591, Infantile nephronophthisis |
PharmGKBi | PA142672158 |
Miscellaneous databases
Pharosi | Q9Y592, Tdark |
Genetic variation databases
BioMutai | CEP83 |
DMDMi | 97045295 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000234495 | 1 – 701 | Centrosomal protein of 83 kDaAdd BLAST | 701 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 698 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9Y592 |
jPOSTi | Q9Y592 |
MassIVEi | Q9Y592 |
MaxQBi | Q9Y592 |
PaxDbi | Q9Y592 |
PeptideAtlasi | Q9Y592 |
PRIDEi | Q9Y592 |
ProteomicsDBi | 86318 [Q9Y592-1] 86319 [Q9Y592-2] |
PTM databases
iPTMneti | Q9Y592 |
PhosphoSitePlusi | Q9Y592 |
Expressioni
Gene expression databases
Bgeei | ENSG00000173588, Expressed in kidney and 193 other tissues |
ExpressionAtlasi | Q9Y592, baseline and differential |
Organism-specific databases
HPAi | ENSG00000173588, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with CEP164 and IFT20.
2 PublicationsBinary interactionsi
CEP83 - isoform 2 [Q9Y592-2]
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 119321, 41 interactors |
IntActi | Q9Y592, 34 interactors |
MINTi | Q9Y592 |
STRINGi | 9606.ENSP00000380911 |
Miscellaneous databases
RNActi | Q9Y592, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 23 | DisorderedSequence analysisAdd BLAST | 23 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 40 – 634 | Sequence analysisAdd BLAST | 595 | |
Coiled coili | 665 – 698 | Sequence analysisAdd BLAST | 34 |
Sequence similaritiesi
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502QWE2, Eukaryota |
GeneTreei | ENSGT00940000154003 |
InParanoidi | Q9Y592 |
OMAi | NKLCRAA |
PhylomeDBi | Q9Y592 |
Family and domain databases
InterProi | View protein in InterPro IPR029631, Cep83 |
PANTHERi | PTHR23170:SF2, PTHR23170:SF2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
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
MVVSTFTDMD TFPNNFPPGG DSGLTGSQSE FQKMLIDERL RCEHHKANYQ
60 70 80 90 100
TLKAEHTRLQ NEHVKLQNEL KHLFNEKQTQ QEKLQLLLEE LRGELVEKTK
110 120 130 140 150
DLEEMKLQIL TPQKLELLRA QIQQELETPM RERFRNLDEE VEKYRAVYNK
160 170 180 190 200
LRYEHTFLKS EFEHQKEEYA RILDEGKIKY ESEIARLEED KEELRNQLLN
210 220 230 240 250
VDLTKDSKRV EQLAREKVYL CQKLKGLEAE VAELKAEKEN SEAQVENAQR
260 270 280 290 300
IQVRQLAEMQ ATVRSLEAEK QSANLRAERL EKELQSSSEQ NTFLINKLHK
310 320 330 340 350
AEREINTLSS KVKELKHSNK LEITDIKLET ARAKSELERE RNKIQSELDG
360 370 380 390 400
LQSDNEILKA AVEHHKVLLV EKDRELIRKV QAAKEEGYQK LVVLQDEKLE
410 420 430 440 450
LENRLADLEK MKVEHDVWRQ SEKDQYEEKL RASQMAEEIT RKELQSVRLK
460 470 480 490 500
LQQQIVTIEN AEKEKNENSD LKQQISSLQI QVTSLAQSEN DLLNSNQMLK
510 520 530 540 550
EMVERLKQEC RNFRSQAEKA QLEAEKTLEE KQIQWLEEKH KLHERITDRE
560 570 580 590 600
EKYNQAKEKL QRAAIAQKKR KSLHENKLKR LQEKVEVLEA KKEELETENQ
610 620 630 640 650
VLNRQNVPFE DYTRLQKRLK DIQRRHNEFR SLILVPNMPP TASINPVSFQ
660 670 680 690 700
SSAMVPSMEL PFPPHMQEEQ HQRELSLLRK RLEELETTQR KQLEELGSSG
E
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8VYN8 | F8VYN8_HUMAN | Centrosomal protein of 83 kDa | CEP83 | 352 | Annotation score: | ||
A0A338VFC5 | A0A338VFC5_HUMAN | Centrosomal protein of 83 kDa | CEP83 | 568 | Annotation score: | ||
H0YHH5 | H0YHH5_HUMAN | Centrosomal protein of 83 kDa | CEP83 | 165 | Annotation score: | ||
A0A0A0MS84 | A0A0A0MS84_HUMAN | Centrosomal protein of 83 kDa | CEP83 | 472 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 267 | E → G in AAD42881 (PubMed:10508479).Curated | 1 | |
Sequence conflicti | 344 | I → L in AAD42881 (PubMed:10508479).Curated | 1 | |
Sequence conflicti | 544 | E → D in AAD42881 (PubMed:10508479).Curated | 1 | |
Sequence conflicti | 545 | R → C in AAI25087 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_058397 | 78 | Q → R. Corresponds to variant dbSNP:rs2271979Ensembl. | 1 | |
Natural variantiVAR_071266 | 87 | L → P in NPHP18; does not affect interaction with CEP164 and IFT20. 1 Publication | 1 | |
Natural variantiVAR_071267 | 112 – 117 | Missing in NPHP18; does not affect interaction with CEP164 and IFT20. 1 Publication | 6 | |
Natural variantiVAR_071268 | 511 | R → P in NPHP18; does not interact with CEP164 and IFT20. 1 PublicationCorresponds to variant dbSNP:rs587777487EnsemblClinVar. | 1 | |
Natural variantiVAR_071269 | 684 | Missing in NPHP18; accumulates in the nucleus. 1 Publication | 1 | |
Natural variantiVAR_071270 | 692 | Missing in NPHP18; accumulates in the nucleus; does not interact with CEP164 and IFT20. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_037760 | 1 – 33 | Missing in isoform 2. 1 PublicationAdd BLAST | 33 | |
Alternative sequenceiVSP_037761 | 570 – 601 | RKSLH…TENQV → LEQDLELGCPSVTDTYRESV FPPPPLKRDLLK in isoform 2. 1 PublicationAdd BLAST | 32 | |
Alternative sequenceiVSP_037762 | 602 – 693 | Missing in isoform 2. 1 PublicationAdd BLAST | 92 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF155115 mRNA Translation: AAD42881.1 Frameshift. AC073655 Genomic DNA No translation available. BC053614 mRNA No translation available. BC125086 mRNA Translation: AAI25087.1 Different initiation. BC125087 mRNA Translation: AAI25088.1 AK056316 mRNA No translation available. |
CCDSi | CCDS41820.1 [Q9Y592-1] |
RefSeqi | NP_001035858.1, NM_001042399.1 [Q9Y592-1] NP_001333386.1, NM_001346457.1 [Q9Y592-1] NP_057206.2, NM_016122.2 [Q9Y592-1] XP_011536726.1, XM_011538424.1 [Q9Y592-1] XP_016874874.1, XM_017019385.1 [Q9Y592-1] XP_016874875.1, XM_017019386.1 [Q9Y592-1] |
Genome annotation databases
Ensembli | ENST00000339839; ENSP00000344655; ENSG00000173588 ENST00000397809; ENSP00000380911; ENSG00000173588 |
GeneIDi | 51134 |
KEGGi | hsa:51134 |
MANE-Selecti | ENST00000397809.10; ENSP00000380911.4; NM_016122.3; NP_057206.2 |
UCSCi | uc058ruu.1, human [Q9Y592-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF155115 mRNA Translation: AAD42881.1 Frameshift. AC073655 Genomic DNA No translation available. BC053614 mRNA No translation available. BC125086 mRNA Translation: AAI25087.1 Different initiation. BC125087 mRNA Translation: AAI25088.1 AK056316 mRNA No translation available. |
CCDSi | CCDS41820.1 [Q9Y592-1] |
RefSeqi | NP_001035858.1, NM_001042399.1 [Q9Y592-1] NP_001333386.1, NM_001346457.1 [Q9Y592-1] NP_057206.2, NM_016122.2 [Q9Y592-1] XP_011536726.1, XM_011538424.1 [Q9Y592-1] XP_016874874.1, XM_017019385.1 [Q9Y592-1] XP_016874875.1, XM_017019386.1 [Q9Y592-1] |
3D structure databases
SMRi | Q9Y592 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 119321, 41 interactors |
IntActi | Q9Y592, 34 interactors |
MINTi | Q9Y592 |
STRINGi | 9606.ENSP00000380911 |
PTM databases
iPTMneti | Q9Y592 |
PhosphoSitePlusi | Q9Y592 |
Genetic variation databases
BioMutai | CEP83 |
DMDMi | 97045295 |
Proteomic databases
EPDi | Q9Y592 |
jPOSTi | Q9Y592 |
MassIVEi | Q9Y592 |
MaxQBi | Q9Y592 |
PaxDbi | Q9Y592 |
PeptideAtlasi | Q9Y592 |
PRIDEi | Q9Y592 |
ProteomicsDBi | 86318 [Q9Y592-1] 86319 [Q9Y592-2] |
Protocols and materials databases
Antibodypediai | 52583, 92 antibodies from 19 providers |
DNASUi | 51134 |
Genome annotation databases
Ensembli | ENST00000339839; ENSP00000344655; ENSG00000173588 ENST00000397809; ENSP00000380911; ENSG00000173588 |
GeneIDi | 51134 |
KEGGi | hsa:51134 |
MANE-Selecti | ENST00000397809.10; ENSP00000380911.4; NM_016122.3; NP_057206.2 |
UCSCi | uc058ruu.1, human [Q9Y592-1] |
Organism-specific databases
CTDi | 51134 |
DisGeNETi | 51134 |
GeneCardsi | CEP83 |
GeneReviewsi | CEP83 |
HGNCi | HGNC:17966, CEP83 |
HPAi | ENSG00000173588, Low tissue specificity |
MalaCardsi | CEP83 |
MIMi | 615847, gene 615862, phenotype |
neXtProti | NX_Q9Y592 |
OpenTargetsi | ENSG00000173588 |
Orphaneti | 93591, Infantile nephronophthisis |
PharmGKBi | PA142672158 |
VEuPathDBi | HostDB:ENSG00000173588 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QWE2, Eukaryota |
GeneTreei | ENSGT00940000154003 |
InParanoidi | Q9Y592 |
OMAi | NKLCRAA |
PhylomeDBi | Q9Y592 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y592 |
Reactomei | R-HSA-5620912, Anchoring of the basal body to the plasma membrane |
SignaLinki | Q9Y592 |
Miscellaneous databases
BioGRID-ORCSi | 51134, 4 hits in 1044 CRISPR screens |
ChiTaRSi | CEP83, human |
GenomeRNAii | 51134 |
Pharosi | Q9Y592, Tdark |
PROi | PR:Q9Y592 |
RNActi | Q9Y592, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000173588, Expressed in kidney and 193 other tissues |
ExpressionAtlasi | Q9Y592, baseline and differential |
Family and domain databases
InterProi | View protein in InterPro IPR029631, Cep83 |
PANTHERi | PTHR23170:SF2, PTHR23170:SF2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | CEP83_HUMAN | |
Accessioni | Q9Y592Primary (citable) accession number: Q9Y592 Secondary accession number(s): A4FVB1, Q08AP1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 16, 2006 |
Last sequence update: | July 18, 2018 | |
Last modified: | February 23, 2022 | |
This is version 142 of the entry and version 3 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 12
Human chromosome 12: 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 - SIMILARITY comments
Index of protein domains and families