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Q9Y592

- CEP83_HUMAN

UniProt

Q9Y592 - CEP83_HUMAN

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Protein

Centrosomal protein of 83 kDa

Gene

CEP83

Organism
Homo sapiens (Human)
Status
Reviewed - 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

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

Keywords - Biological processi

Cilium biogenesis/degradation

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
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:17966. CEP83.

Subcellular locationi

Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole 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.

GO - Cellular componenti

  1. centriole Source: UniProtKB
  2. ciliary transition fiber Source: MGI
  3. Golgi apparatus Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Nephronophthisis 18 (NPHP18) [MIM:615862]: An 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti79 – 791L → P in NPHP18; does not affect interaction with CEP164 and IFT20. 1 Publication
VAR_071266
Natural varianti104 – 1096Missing in NPHP18; does not affect interaction with CEP164 and IFT20. 1 Publication
VAR_071267
Natural varianti503 – 5031R → P in NPHP18; does not interact with CEP164 and IFT20. 1 Publication
VAR_071268
Natural varianti676 – 6761Missing in NPHP18; accumulates in the nucleus. 1 Publication
VAR_071269
Natural varianti684 – 6841Missing in NPHP18; accumulates in the nucleus; does not interact with CEP164 and IFT20. 1 Publication
VAR_071270

Keywords - Diseasei

Ciliopathy, Disease mutation, Nephronophthisis

Organism-specific databases

MIMi615862. phenotype.
Orphaneti93591. Infantile autosomal recessive medullary cystic kidney disease.
PharmGKBiPA142672158.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 693693Centrosomal protein of 83 kDaPRO_0000234495Add
BLAST

Proteomic databases

MaxQBiQ9Y592.
PaxDbiQ9Y592.
PRIDEiQ9Y592.

PTM databases

PhosphoSiteiQ9Y592.

Expressioni

Gene expression databases

BgeeiQ9Y592.
CleanExiHS_CCDC41.
ExpressionAtlasiQ9Y592. baseline and differential.
GenevestigatoriQ9Y592.

Organism-specific databases

HPAiHPA038161.

Interactioni

Subunit structurei

Interacts with CEP164 and IFT20.2 Publications

Protein-protein interaction databases

BioGridi119321. 2 interactions.
IntActiQ9Y592. 1 interaction.
MINTiMINT-1790539.
STRINGi9606.ENSP00000344655.

Structurei

3D structure databases

ProteinModelPortaliQ9Y592.
SMRiQ9Y592. Positions 21-71.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili32 – 626595Sequence AnalysisAdd
BLAST
Coiled coili657 – 69034Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the CEP83 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG125204.
GeneTreeiENSGT00450000040638.
HOGENOMiHOG000111412.
HOVERGENiHBG053993.
InParanoidiQ9Y592.
KOiK16754.
OrthoDBiEOG75TMBC.
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. Align

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 AAD42881.1 differs from that shown. Reason: Frameshift at positions 105, 590 and 601. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti259 – 2591E → G in AAD42881. (PubMed:10508479)Curated
Sequence conflicti336 – 3361I → L in AAD42881. (PubMed:10508479)Curated
Sequence conflicti536 – 5361E → D in AAD42881. (PubMed:10508479)Curated
Sequence conflicti537 – 5371R → C in AAI25087. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti70 – 701Q → R.
Corresponds to variant rs2271979 [ dbSNP | Ensembl ].
VAR_058397
Natural varianti79 – 791L → P in NPHP18; does not affect interaction with CEP164 and IFT20. 1 Publication
VAR_071266
Natural varianti104 – 1096Missing in NPHP18; does not affect interaction with CEP164 and IFT20. 1 Publication
VAR_071267
Natural varianti503 – 5031R → P in NPHP18; does not interact with CEP164 and IFT20. 1 Publication
VAR_071268
Natural varianti676 – 6761Missing in NPHP18; accumulates in the nucleus. 1 Publication
VAR_071269
Natural varianti684 – 6841Missing in NPHP18; accumulates in the nucleus; does not interact with CEP164 and IFT20. 1 Publication
VAR_071270

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2525Missing in isoform 2. 1 PublicationVSP_037760Add
BLAST
Alternative sequencei562 – 59332RKSLH…TENQV → LEQDLELGCPSVTDTYRESV FPPPPLKRDLLK in isoform 2. 1 PublicationVSP_037761Add
BLAST
Alternative sequencei594 – 693100Missing in isoform 2. 1 PublicationVSP_037762Add
BLAST

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.

Genome annotation databases

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

Polymorphism databases

DMDMi97045295.

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.
RefSeqi NP_057206.2. NM_016122.2.
UniGenei Hs.279209.

3D structure databases

ProteinModelPortali Q9Y592.
SMRi Q9Y592. Positions 21-71.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119321. 2 interactions.
IntActi Q9Y592. 1 interaction.
MINTi MINT-1790539.
STRINGi 9606.ENSP00000344655.

PTM databases

PhosphoSitei Q9Y592.

Polymorphism databases

DMDMi 97045295.

Proteomic databases

MaxQBi Q9Y592.
PaxDbi Q9Y592.
PRIDEi Q9Y592.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000547232 ; ENSP00000447783 ; ENSG00000173588 . [Q9Y592-2 ]
GeneIDi 51134.
KEGGi hsa:51134.

Organism-specific databases

CTDi 51134.
GeneCardsi GC12M094700.
HGNCi HGNC:17966. CEP83.
HPAi HPA038161.
MIMi 615847. gene.
615862. phenotype.
neXtProti NX_Q9Y592.
Orphaneti 93591. Infantile autosomal recessive medullary cystic kidney disease.
PharmGKBi PA142672158.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG125204.
GeneTreei ENSGT00450000040638.
HOGENOMi HOG000111412.
HOVERGENi HBG053993.
InParanoidi Q9Y592.
KOi K16754.
OrthoDBi EOG75TMBC.
PhylomeDBi Q9Y592.

Miscellaneous databases

GenomeRNAii 51134.
NextBioi 53977.
PROi Q9Y592.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y592.
CleanExi HS_CCDC41.
ExpressionAtlasi Q9Y592. baseline and differential.
Genevestigatori Q9Y592.

Family and domain databases

InterProi IPR029631. Cep83.
[Graphical view ]
PANTHERi PTHR23170:SF2. PTHR23170:SF2. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), IDENTIFICATION AS A RENAL CANCER ANTIGEN.
  2. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-634 (ISOFORM 1).
    Tissue: Retinoblastoma.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-559 (ISOFORM 1).
  5. "Centriole distal appendages promote membrane docking, leading to cilia initiation."
    Tanos B.E., Yang H.J., Soni R., Wang W.J., Macaluso F.P., Asara J.M., Tsou M.F.
    Genes Dev. 27:163-168(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  6. Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH CEP164 AND IFT20.
  7. Cited for: INTERACTION WITH CEP164 AND IFT20, VARIANTS NPHP18 PRO-79; 104-PRO--LEU-109 DEL; PRO-503; GLU-676 DEL AND GLN-684 DEL, CHARACTERIZATION OF VARIANTS NPHP18 PRO-79; 104-PRO--LEU-109 DEL; PRO-503; GLU-676 DEL AND GLN-684 DEL.

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 26, 2014
This is version 88 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

External Data

Dasty 3