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Protein

Centrosomal protein of 83 kDa

Gene

CEP83

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 Publications

GO - Biological processi

  • cilium assembly Source: UniProtKB
  • protein localization to centrosome Source: MGI
  • vesicle docking Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000173588-MONOMER.
ReactomeiR-HSA-5620912. Anchoring of the basal body to the plasma membrane.

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 83 kDa
Short name:
Cep83
Alternative name(s):
Coiled-coil domain-containing protein 41
Renal carcinoma antigen NY-REN-58
Gene namesi
Name:CEP83
Synonyms:CCDC41
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:17966. CEP83.

Subcellular locationi

GO - Cellular componenti

  • centriole Source: UniProtKB
  • ciliary transition fiber Source: MGI
  • cytosol Source: Reactome
  • Golgi apparatus Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Nephronophthisis 18 (NPHP18)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients.
See also OMIM:615862
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07126679L → P in NPHP18; does not affect interaction with CEP164 and IFT20. 1 Publication1
Natural variantiVAR_071267104 – 109Missing in NPHP18; does not affect interaction with CEP164 and IFT20. 1 Publication6
Natural variantiVAR_071268503R → P in NPHP18; does not interact with CEP164 and IFT20. 1 Publication1
Natural variantiVAR_071269676Missing in NPHP18; accumulates in the nucleus. 1 Publication1
Natural variantiVAR_071270684Missing in NPHP18; accumulates in the nucleus; does not interact with CEP164 and IFT20. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation, Nephronophthisis

Organism-specific databases

DisGeNETi51134.
MalaCardsiCEP83.
MIMi615862. phenotype.
OpenTargetsiENSG00000173588.
Orphaneti93591. Infantile nephronophthisis.
PharmGKBiPA142672158.

Polymorphism and mutation databases

BioMutaiCCDC41.
DMDMi97045295.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002344951 – 693Centrosomal protein of 83 kDaAdd BLAST693

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei690PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y592.
PaxDbiQ9Y592.
PeptideAtlasiQ9Y592.
PRIDEiQ9Y592.

PTM databases

iPTMnetiQ9Y592.
PhosphoSitePlusiQ9Y592.

Expressioni

Gene expression databases

BgeeiENSG00000173588.
CleanExiHS_CCDC41.
ExpressionAtlasiQ9Y592. baseline and differential.

Organism-specific databases

HPAiHPA038161.

Interactioni

Subunit structurei

Interacts with CEP164 and IFT20.2 Publications

Protein-protein interaction databases

BioGridi119321. 23 interactors.
IntActiQ9Y592. 17 interactors.
MINTiMINT-1790539.
STRINGi9606.ENSP00000344655.

Structurei

3D structure databases

ProteinModelPortaliQ9Y592.
SMRiQ9Y592.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili32 – 626Sequence analysisAdd BLAST595
Coiled coili657 – 690Sequence analysisAdd BLAST34

Sequence similaritiesi

Belongs to the CEP83 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IH7C. Eukaryota.
ENOG410XX59. LUCA.
GeneTreeiENSGT00450000040638.
HOGENOMiHOG000111412.
HOVERGENiHBG053993.
InParanoidiQ9Y592.
KOiK16754.
PhylomeDBiQ9Y592.

Family and domain databases

InterProiIPR029631. Cep83.
[Graphical view]
PANTHERiPTHR23170:SF2. PTHR23170:SF2. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y592-1) [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.

« Hide

        10         20         30         40         50
MDTFPNNFPP GGDSGLTGSQ SEFQKMLIDE RLRCEHHKAN YQTLKAEHTR
60 70 80 90 100
LQNEHVKLQN ELKHLFNEKQ TQQEKLQLLL EELRGELVEK TKDLEEMKLQ
110 120 130 140 150
ILTPQKLELL RAQIQQELET PMRERFRNLD EEVEKYRAVY NKLRYEHTFL
160 170 180 190 200
KSEFEHQKEE YARILDEGKI KYESEIARLE EDKEELRNQL LNVDLTKDSK
210 220 230 240 250
RVEQLAREKV YLCQKLKGLE AEVAELKAEK ENSEAQVENA QRIQVRQLAE
260 270 280 290 300
MQATVRSLEA EKQSANLRAE RLEKELQSSS EQNTFLINKL HKAEREINTL
310 320 330 340 350
SSKVKELKHS NKLEITDIKL ETARAKSELE RERNKIQSEL DGLQSDNEIL
360 370 380 390 400
KAAVEHHKVL LVEKDRELIR KVQAAKEEGY QKLVVLQDEK LELENRLADL
410 420 430 440 450
EKMKVEHDVW RQSEKDQYEE KLRASQMAEE ITRKELQSVR LKLQQQIVTI
460 470 480 490 500
ENAEKEKNEN SDLKQQISSL QIQVTSLAQS ENDLLNSNQM LKEMVERLKQ
510 520 530 540 550
ECRNFRSQAE KAQLEAEKTL EEKQIQWLEE KHKLHERITD REEKYNQAKE
560 570 580 590 600
KLQRAAIAQK KRKSLHENKL KRLQEKVEVL EAKKEELETE NQVLNRQNVP
610 620 630 640 650
FEDYTRLQKR LKDIQRRHNE FRSLILVPNM PPTASINPVS FQSSAMVPSM
660 670 680 690
ELPFPPHMQE EQHQRELSLL RKRLEELETT QRKQLEELGS SGE
Length:693
Mass (Da):82,059
Last modified:May 16, 2006 - v2
Checksum:i0310952944AE6970
GO
Isoform 2 (identifier: Q9Y592-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: Missing.
     562-593: RKSLHENKLKRLQEKVEVLEAKKEELETENQV → LEQDLELGCPSVTDTYRESVFPPPPLKRDLLK
     594-693: Missing.

Show »
Length:568
Mass (Da):67,408
Checksum:i870DDD0933F30FD7
GO

Sequence cautioni

The sequence AAD42881 differs from that shown. Reason: Frameshift at positions 105, 590 and 601.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti259E → G in AAD42881 (PubMed:10508479).Curated1
Sequence conflicti336I → L in AAD42881 (PubMed:10508479).Curated1
Sequence conflicti536E → D in AAD42881 (PubMed:10508479).Curated1
Sequence conflicti537R → C in AAI25087 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05839770Q → R.Corresponds to variant rs2271979dbSNPEnsembl.1
Natural variantiVAR_07126679L → P in NPHP18; does not affect interaction with CEP164 and IFT20. 1 Publication1
Natural variantiVAR_071267104 – 109Missing in NPHP18; does not affect interaction with CEP164 and IFT20. 1 Publication6
Natural variantiVAR_071268503R → P in NPHP18; does not interact with CEP164 and IFT20. 1 Publication1
Natural variantiVAR_071269676Missing in NPHP18; accumulates in the nucleus. 1 Publication1
Natural variantiVAR_071270684Missing in NPHP18; accumulates in the nucleus; does not interact with CEP164 and IFT20. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0377601 – 25Missing in isoform 2. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_037761562 – 593RKSLH…TENQV → LEQDLELGCPSVTDTYRESV FPPPPLKRDLLK in isoform 2. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_037762594 – 693Missing in isoform 2. 1 PublicationAdd BLAST100

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.
BC125087 mRNA. Translation: AAI25088.1.
AK056316 mRNA. No translation available.
RefSeqiNP_057206.2. NM_016122.2.
UniGeneiHs.279209.
Hs.584845.

Genome annotation databases

EnsembliENST00000547232; ENSP00000447783; ENSG00000173588. [Q9Y592-2]
GeneIDi51134.
KEGGihsa:51134.
UCSCiuc058ruu.1. human. [Q9Y592-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
BC125087 mRNA. Translation: AAI25088.1.
AK056316 mRNA. No translation available.
RefSeqiNP_057206.2. NM_016122.2.
UniGeneiHs.279209.
Hs.584845.

3D structure databases

ProteinModelPortaliQ9Y592.
SMRiQ9Y592.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119321. 23 interactors.
IntActiQ9Y592. 17 interactors.
MINTiMINT-1790539.
STRINGi9606.ENSP00000344655.

PTM databases

iPTMnetiQ9Y592.
PhosphoSitePlusiQ9Y592.

Polymorphism and mutation databases

BioMutaiCCDC41.
DMDMi97045295.

Proteomic databases

EPDiQ9Y592.
PaxDbiQ9Y592.
PeptideAtlasiQ9Y592.
PRIDEiQ9Y592.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000547232; ENSP00000447783; ENSG00000173588. [Q9Y592-2]
GeneIDi51134.
KEGGihsa:51134.
UCSCiuc058ruu.1. human. [Q9Y592-1]

Organism-specific databases

CTDi51134.
DisGeNETi51134.
GeneCardsiCEP83.
HGNCiHGNC:17966. CEP83.
HPAiHPA038161.
MalaCardsiCEP83.
MIMi615847. gene.
615862. phenotype.
neXtProtiNX_Q9Y592.
OpenTargetsiENSG00000173588.
Orphaneti93591. Infantile nephronophthisis.
PharmGKBiPA142672158.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH7C. Eukaryota.
ENOG410XX59. LUCA.
GeneTreeiENSGT00450000040638.
HOGENOMiHOG000111412.
HOVERGENiHBG053993.
InParanoidiQ9Y592.
KOiK16754.
PhylomeDBiQ9Y592.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000173588-MONOMER.
ReactomeiR-HSA-5620912. Anchoring of the basal body to the plasma membrane.

Miscellaneous databases

GenomeRNAii51134.
PROiQ9Y592.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000173588.
CleanExiHS_CCDC41.
ExpressionAtlasiQ9Y592. baseline and differential.

Family and domain databases

InterProiIPR029631. Cep83.
[Graphical view]
PANTHERiPTHR23170:SF2. PTHR23170:SF2. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiCEP83_HUMAN
AccessioniPrimary (citable) accession number: Q9Y592
Secondary accession number(s): A4FVB1, Q08AP1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: May 16, 2006
Last modified: November 30, 2016
This is version 109 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.