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Protein

Centrosomal protein of 89 kDa

Gene

CEP89

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

Functioni

Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity.2 Publications

GO - Biological processi

  • chemical synaptic transmission Source: InterPro
  • ciliary basal body-plasma membrane docking Source: Reactome
  • cilium assembly Source: UniProtKB
  • mitochondrion organization Source: InterPro
  • non-motile cilium assembly Source: GO_Central

Keywordsi

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-HSA-5620912 Anchoring of the basal body to the plasma membrane

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 89 kDa
Short name:
Cep89
Alternative name(s):
Centrosomal protein 123
Short name:
Cep123
Coiled-coil domain-containing protein 123
Gene namesi
Name:CEP89
Synonyms:CCDC123
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000121289.17
HGNCiHGNC:25907 CEP89
MIMi615470 gene
neXtProtiNX_Q96ST8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Homozygous deletion comprising CEP89 and SLC7A9 genes has been reported in a patient with isolated complex IV deficiency, intellectual disability and multisystemic problems that include cystinuria, cataract, broad based walking pattern and deafness.1 Publication

Organism-specific databases

DisGeNETi84902
OpenTargetsiENSG00000121289
Orphaneti254905 Isolated cytochrome C oxidase deficiency
PharmGKBiPA147358250

Polymorphism and mutation databases

BioMutaiCEP89
DMDMi296439414

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002888091 – 783Centrosomal protein of 89 kDaAdd BLAST783

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei50PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96ST8
MaxQBiQ96ST8
PaxDbiQ96ST8
PeptideAtlasiQ96ST8
PRIDEiQ96ST8
ProteomicsDBi78147
78148 [Q96ST8-2]
78149 [Q96ST8-3]

PTM databases

iPTMnetiQ96ST8
PhosphoSitePlusiQ96ST8

Expressioni

Gene expression databases

BgeeiENSG00000121289
CleanExiHS_CCDC123
ExpressionAtlasiQ96ST8 baseline and differential
GenevisibleiQ96ST8 HS

Organism-specific databases

HPAiHPA039382
HPA040056

Interactioni

Protein-protein interaction databases

BioGridi124342, 89 interactors
DIPiDIP-47325N
IntActiQ96ST8, 89 interactors
STRINGi9606.ENSP00000306105

Structurei

3D structure databases

ProteinModelPortaliQ96ST8
SMRiQ96ST8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili234 – 333Sequence analysisAdd BLAST100
Coiled coili369 – 719Sequence analysisAdd BLAST351

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IGSG Eukaryota
ENOG410ZNEI LUCA
GeneTreeiENSGT00390000018876
HOGENOMiHOG000111383
HOVERGENiHBG075238
InParanoidiQ96ST8
KOiK16543
OMAiEMSAHQY
OrthoDBiEOG091G036W
PhylomeDBiQ96ST8
TreeFamiTF329234

Family and domain databases

InterProiView protein in InterPro
IPR033545 CEP89
PANTHERiPTHR36170 PTHR36170, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96ST8-1) [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
MLLGFRRGRR SHFKHIIHGL LPAASVAPKA AVPRTPPPRS PNPSPERPRS
60 70 80 90 100
ALAAAILATT LTGRTVAIPQ PRQRSRSESD VSSVEQDSFI EPYATTSQLR
110 120 130 140 150
PRPNWQSEMG RRSSLPSFET LDYGDEEDIE TQLSSSGKEL GDVSAREDRG
160 170 180 190 200
GHSDDLYAVP HRNQVPLLHE VNSEDDENIS HQDGFPGSPP APQRTQQKDG
210 220 230 240 250
KHPVLNLKDE KPPLCEKPPP SPDITGRARQ RYTEITREKF EALKEENMDL
260 270 280 290 300
NNMNQSLTLE LNTMKQAMKE LQLKLKGMEK EKRKLKEAEK ASSQEVAAPE
310 320 330 340 350
LLYLRKQAQE LVDENDGLKM TVHRLNVELS RYQTKFRHLS KEESLNIEGL
360 370 380 390 400
PSKGPIPPWL LDIKYLSPLL LAYEDMMKEK DELNATLKEE MRMFRMRVQE
410 420 430 440 450
VVKENEELHQ ELNKSSAVTS EEWRQLQTQA KLVLEENKLL LEQLEIQQRK
460 470 480 490 500
AKDSHQERLQ EVSKLTKQLM LLEAKTHGQE KELAENREQL EILRAKCQEL
510 520 530 540 550
KTHSDGKIAV EVHKSIVNEL KSQLQKEEEK ERAEMEELME KLTVLQAQKK
560 570 580 590 600
SLLLEKNSLT EQNKALEAEL ERAQKINRKS QKKIEVLKKQ VEKAMGNEMS
610 620 630 640 650
AHQYLANLVG LAENITQERD SLMCLAKCLE SEKDGVLNKV IKSNIRLGKL
660 670 680 690 700
EEKVKGYKKQ AALKLGDISH RLLEQQEDFA GKTAQYRQEM RHLHQVLKDK
710 720 730 740 750
QEVLDQALQQ NREMEGELEV IWESTFRENR RIRELLQDTL TRTGVQDNPR
760 770 780
ALVAPSLNGV SQADLLDGCD VCSYDLKSHA PTC
Length:783
Mass (Da):89,590
Last modified:May 18, 2010 - v3
Checksum:i7EE45B222951CED0
GO
Isoform 2 (identifier: Q96ST8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-247: Missing.

Note: No experimental confirmation available.
Show »
Length:536
Mass (Da):62,126
Checksum:i3E3D037CC5C62FCF
GO
Isoform 3 (identifier: Q96ST8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     344-356: SLNIEGLPSKGPI → VTFPIVKISFSDF
     357-782: Missing.

Note: No experimental confirmation available.
Show »
Length:357
Mass (Da):40,338
Checksum:iB54BFDAC136EA215
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063122194R → W. Corresponds to variant dbSNP:rs3764633Ensembl.1
Natural variantiVAR_063123398V → A2 PublicationsCorresponds to variant dbSNP:rs4805825Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0391811 – 247Missing in isoform 2. 1 PublicationAdd BLAST247
Alternative sequenceiVSP_039182344 – 356SLNIE…SKGPI → VTFPIVKISFSDF in isoform 3. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_039183357 – 782Missing in isoform 3. 1 PublicationAdd BLAST426

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027546 mRNA Translation: BAB55190.1
AC008805 Genomic DNA No translation available.
AC119048 Genomic DNA No translation available.
AC011449 Genomic DNA No translation available.
BC032307 mRNA Translation: AAH32307.1
BC136328 mRNA Translation: AAI36329.1
CCDSiCCDS32987.1 [Q96ST8-1]
RefSeqiNP_116205.3, NM_032816.4 [Q96ST8-1]
XP_011525727.1, XM_011527425.2 [Q96ST8-2]
UniGeneiHs.599703

Genome annotation databases

EnsembliENST00000305768; ENSP00000306105; ENSG00000121289 [Q96ST8-1]
GeneIDi84902
KEGGihsa:84902
UCSCiuc002nty.4 human [Q96ST8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCEP89_HUMAN
AccessioniPrimary (citable) accession number: Q96ST8
Secondary accession number(s): B9EGA6, Q8N5J8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 18, 2010
Last modified: June 20, 2018
This is version 118 of the entry and version 3 of the sequence. See 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 19
    Human chromosome 19: 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

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