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Q9Y592

- CEP83_HUMAN

UniProt

Q9Y592 - CEP83_HUMAN

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Protein

Centrosomal protein of 83 kDa

Gene
CEP83, CCDC41
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 - Molecular functioni

  1. protein binding Source: UniProtKB

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
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.2 Publications

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

Organism-specific databases

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

ArrayExpressiQ9Y592.
BgeeiQ9Y592.
CleanExiHS_CCDC41.
GenevestigatoriQ9Y592.

Organism-specific databases

HPAiHPA038161.

Interactioni

Subunit structurei

Interacts with CEP164 and IFT20.1 Publication

Protein-protein interaction databases

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

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili32 – 626595 Reviewed predictionAdd
BLAST
Coiled coili657 – 69034 Reviewed predictionAdd
BLAST

Sequence similaritiesi

Belongs to the CEP83 family.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG125204.
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

MDTFPNNFPP GGDSGLTGSQ SEFQKMLIDE RLRCEHHKAN YQTLKAEHTR    50
LQNEHVKLQN ELKHLFNEKQ TQQEKLQLLL EELRGELVEK TKDLEEMKLQ 100
ILTPQKLELL RAQIQQELET PMRERFRNLD EEVEKYRAVY NKLRYEHTFL 150
KSEFEHQKEE YARILDEGKI KYESEIARLE EDKEELRNQL LNVDLTKDSK 200
RVEQLAREKV YLCQKLKGLE AEVAELKAEK ENSEAQVENA QRIQVRQLAE 250
MQATVRSLEA EKQSANLRAE RLEKELQSSS EQNTFLINKL HKAEREINTL 300
SSKVKELKHS NKLEITDIKL ETARAKSELE RERNKIQSEL DGLQSDNEIL 350
KAAVEHHKVL LVEKDRELIR KVQAAKEEGY QKLVVLQDEK LELENRLADL 400
EKMKVEHDVW RQSEKDQYEE KLRASQMAEE ITRKELQSVR LKLQQQIVTI 450
ENAEKEKNEN SDLKQQISSL QIQVTSLAQS ENDLLNSNQM LKEMVERLKQ 500
ECRNFRSQAE KAQLEAEKTL EEKQIQWLEE KHKLHERITD REEKYNQAKE 550
KLQRAAIAQK KRKSLHENKL KRLQEKVEVL EAKKEELETE NQVLNRQNVP 600
FEDYTRLQKR LKDIQRRHNE FRSLILVPNM PPTASINPVS FQSSAMVPSM 650
ELPFPPHMQE EQHQRELSLL RKRLEELETT QRKQLEELGS SGE 693
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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti70 – 701Q → R.
Corresponds to variant rs2271979 [ dbSNP | Ensembl ].
VAR_058397

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2525Missing in isoform 2. VSP_037760Add
BLAST
Alternative sequencei562 – 59332RKSLH…TENQV → LEQDLELGCPSVTDTYRESV FPPPPLKRDLLK in isoform 2. VSP_037761Add
BLAST
Alternative sequencei594 – 693100Missing in isoform 2. VSP_037762Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti259 – 2591E → G in AAD42881. 1 Publication
Sequence conflicti336 – 3361I → L in AAD42881. 1 Publication
Sequence conflicti536 – 5361E → D in AAD42881. 1 Publication
Sequence conflicti537 – 5371R → C in AAI25087. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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

EnsembliENST00000397807; ENSP00000380909; ENSG00000173588. [Q9Y592-2]
ENST00000547232; 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:
EMBL
GenBank
DDBJ
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

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 ENST00000397807 ; ENSP00000380909 ; ENSG00000173588 . [Q9Y592-2 ]
ENST00000547232 ; ENSP00000447783 ; ENSG00000173588 . [Q9Y592-2 ]
GeneIDi 51134.
KEGGi hsa:51134.

Organism-specific databases

CTDi 51134.
GeneCardsi GC12M094702.
HGNCi HGNC:17966. CEP83.
HPAi HPA038161.
neXtProti NX_Q9Y592.
PharmGKBi PA142672158.
GenAtlasi Search...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSi CCDC41. human.
GenomeRNAii 51134.
NextBioi 53977.
PROi Q9Y592.

Gene expression databases

ArrayExpressi Q9Y592.
Bgeei Q9Y592.
CleanExi HS_CCDC41.
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.

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: September 3, 2014
This is version 85 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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