Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Centrosomal protein of 78 kDa

Gene

CEP78

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

Functioni

May be required for efficient PLK4 centrosomal localization and PLK4-induced overduplication of centrioles (PubMed:27246242). May play a role in cilium biogenesis (PubMed:27588451).2 Publications

GO - Biological processi

Keywordsi

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-8854518 AURKA Activation by TPX2

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 78 kDa
Short name:
Cep78
Gene namesi
Name:CEP78
Synonyms:C9orf81
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000148019.12
HGNCiHGNC:25740 CEP78
MIMi617110 gene
neXtProtiNX_Q5JTW2

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

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Cone-rod dystrophy and hearing loss (CRDHL)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone-rod dystrophy is characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
See also OMIM:617236

Keywords - Diseasei

Ciliopathy, Cone-rod dystrophy, Deafness

Organism-specific databases

MalaCardsiCEP78
MIMi617236 phenotype
OpenTargetsiENSG00000148019
PharmGKBiPA134937066

Polymorphism and mutation databases

BioMutaiCEP78
DMDMi74742229

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002919521 – 689Centrosomal protein of 78 kDaAdd BLAST689

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei325PhosphoserineCombined sources1
Modified residuei327PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ5JTW2
MaxQBiQ5JTW2
PaxDbiQ5JTW2
PeptideAtlasiQ5JTW2
PRIDEiQ5JTW2
ProteomicsDBi63235
63236 [Q5JTW2-2]
63237 [Q5JTW2-3]

PTM databases

iPTMnetiQ5JTW2
PhosphoSitePlusiQ5JTW2

Expressioni

Tissue specificityi

Widely expressed (PubMed:27588451, PubMed:27588452). Expressed in different retinal cell types with higher expression in cone compared to rod cells (at protein level) (PubMed:27588452).2 Publications

Developmental stagei

Expression is cell cycle-dependent, with low levels in mitosis. The expression starts to increase during late G1 until the S/G2 transition (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000148019 Expressed in 179 organ(s), highest expression level in secondary oocyte
CleanExiHS_CEP78
ExpressionAtlasiQ5JTW2 baseline and differential
GenevisibleiQ5JTW2 HS

Organism-specific databases

HPAiHPA048846

Interactioni

Subunit structurei

Interacts with PLK4 (PubMed:27246242). Interacts with FAM161A (PubMed:27588451).2 Publications

Protein-protein interaction databases

BioGridi123903, 39 interactors
IntActiQ5JTW2, 19 interactors
STRINGi9606.ENSP00000365782

Structurei

3D structure databases

ProteinModelPortaliQ5JTW2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili450 – 505Sequence analysisAdd BLAST56

Sequence similaritiesi

Belongs to the CEP78 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4308 Eukaryota
ENOG410ZBX3 LUCA
GeneTreeiENSGT00390000013287
HOGENOMiHOG000015235
HOVERGENiHBG056294
InParanoidiQ5JTW2
KOiK16765
OMAiNCPIGDG
OrthoDBiEOG091G0AYV
PhylomeDBiQ5JTW2
TreeFamiTF328928

Family and domain databases

Gene3Di3.80.10.10, 2 hits
InterProiView protein in InterPro
IPR026212 Cep78
IPR001611 Leu-rich_rpt
IPR032675 LRR_dom_sf
PfamiView protein in Pfam
PF13516 LRR_6, 2 hits
PRINTSiPR02062 CENTROSOME78

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5JTW2-1) [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
MIDSVKLRRD SAADFFSHYE YLCALQNSVP LPAVRACLRE GVLDFNADRL
60 70 80 90 100
RGVDWAPLLS TLKINKDLPL VSIKSFFQPW LGDTGSDMNK FCRSRVPAIR
110 120 130 140 150
YKDVTFQLCK ALKGCLSISS VLKNLELNGL ILRERDLTIL AKGLNKSASL
160 170 180 190 200
VHLSLANCPI GDGGLEIICQ GIKSSITLKT VNFTGCNLTW QGADHMAKIL
210 220 230 240 250
KYQTMRRHEE TWAESLRYRR PDLDCMAGLR RITLNCNTLI GDLGACAFAD
260 270 280 290 300
SLSEDLWLRA LDLQQCGLTN EGAKALLEAL ETNTTLVVLD IRKNPLIDHS
310 320 330 340 350
MMKAVIKKVL QNGRSAKSEY QWITSPSVKE PSKTAKQKRR TIILGSGHKG
360 370 380 390 400
KATIRIGLAT KKPVSSGRKH SLGKEYYAPA PLPPGVSGFL PWRTAERAKR
410 420 430 440 450
HRGFPLIKTR DICNQLQQPG FPVTVTVESP SSSEVEEVDD SSESVHEVPE
460 470 480 490 500
KTSIEQEALQ EKLEECLKQL KEERVIRLKV DKRVSELEHE NAQLRNINFS
510 520 530 540 550
LSEALHAQSL TNMILDDEGV LGSIENSFQK FHAFLDLLKD AGLGQLATMA
560 570 580 590 600
GIDQSDFQLL GHPQMTSTVS NPPKEEKKAL EDEKPEPKQN ALGQMQNIQF
610 620 630 640 650
QKITGDARIP LPLDSFPVPV STPEGLGTSS NNLGVPATEQ RQESFEGFIA
660 670 680
RMCSPSPDAT SGTGSQRKEE ELSRNSRSSS EKKTKTESH
Length:689
Mass (Da):76,396
Last modified:February 15, 2005 - v1
Checksum:i5FEEE6542F8E4F5F
GO
Isoform 2 (identifier: Q5JTW2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     356-356: I → IV
     599-599: Q → QVSICMQSAYNEGTLMK
     687-689: ESH → GEYTKKHSDKQHPGKDLHS

Note: No experimental confirmation available.
Show »
Length:722
Mass (Da):80,074
Checksum:i747ACCD87DB5D60E
GO
Isoform 3 (identifier: Q5JTW2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     599-599: Q → QVSICMQSAYNEGTLMK

Note: Gene prediction based on EST data. No experimental confirmation available.
Show »
Length:705
Mass (Da):78,153
Checksum:i96D85522FD74506A
GO
Isoform 4 (identifier: Q5JTW2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     356-356: I → IV
     687-689: ESH → GEYTKKHSDKQHPGKDLHS

Note: No experimental confirmation available.
Show »
Length:706
Mass (Da):78,317
Checksum:i4D194C3FE5E69CB7
GO

Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A8MST6A8MST6_HUMAN
Centrosomal protein of 78 kDa
CEP78
705Annotation score:
A0A2R8YCP0A0A2R8YCP0_HUMAN
Centrosomal protein of 78 kDa
CEP78
721Annotation score:
A0A2R8Y5W6A0A2R8Y5W6_HUMAN
Centrosomal protein of 78 kDa
CEP78
711Annotation score:
A0A2R8Y589A0A2R8Y589_HUMAN
Centrosomal protein of 78 kDa
CEP78
673Annotation score:
A0A2R8Y7A4A0A2R8Y7A4_HUMAN
Centrosomal protein of 78 kDa
CEP78
727Annotation score:
A0A2R8Y432A0A2R8Y432_HUMAN
Centrosomal protein of 78 kDa
CEP78
717Annotation score:
A0A2U3TZI9A0A2U3TZI9_HUMAN
Centrosomal protein of 78 kDa
CEP78
711Annotation score:
A0A2R8Y4C1A0A2R8Y4C1_HUMAN
Centrosomal protein of 78 kDa
CEP78
685Annotation score:
A0A2R8Y7U5A0A2R8Y7U5_HUMAN
Centrosomal protein of 78 kDa
CEP78
696Annotation score:
A0A2R8YFB0A0A2R8YFB0_HUMAN
Centrosomal protein of 78 kDa
CEP78
79Annotation score:
There is more potential isoformShow all

Sequence cautioni

The sequence AAH91515 differs from that shown. Probable intron retention.Curated
The sequence AAH91515 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti49R → G in AAI28059 (PubMed:15489334).Curated1
Sequence conflicti173K → R in AAI28059 (PubMed:15489334).Curated1
Sequence conflicti236 – 237CN → GY in BAB14190 (PubMed:14702039).Curated2
Sequence conflicti451K → R in BAB14190 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_026321356I → IV in isoform 2 and isoform 4. 1 Publication1
Alternative sequenceiVSP_026322599Q → QVSICMQSAYNEGTLMK in isoform 2 and isoform 3. 1 Publication1
Alternative sequenceiVSP_026323687 – 689ESH → GEYTKKHSDKQHPGKDLHS in isoform 2 and isoform 4. 1 Publication3

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL353705 Genomic DNA No translation available.
BC091515 mRNA Translation: AAH91515.1 Sequence problems.
BC128058 mRNA Translation: AAI28059.1
AK022705 mRNA Translation: BAB14190.1
CCDSiCCDS47984.1 [Q5JTW2-2]
CCDS47985.1 [Q5JTW2-5]
CCDS83376.1 [Q5JTW2-3]
CCDS83377.1 [Q5JTW2-1]
RefSeqiNP_001092272.1, NM_001098802.1 [Q5JTW2-2]
NP_001317620.1, NM_001330691.1 [Q5JTW2-3]
NP_001317622.1, NM_001330693.1 [Q5JTW2-1]
NP_001317623.1, NM_001330694.1
NP_115547.1, NM_032171.1 [Q5JTW2-5]
UniGeneiHs.187621
Hs.374421

Genome annotation databases

EnsembliENST00000376597; ENSP00000365782; ENSG00000148019 [Q5JTW2-2]
ENST00000415759; ENSP00000399286; ENSG00000148019 [Q5JTW2-5]
ENST00000424347; ENSP00000411284; ENSG00000148019 [Q5JTW2-1]
ENST00000642669; ENSP00000495681; ENSG00000148019 [Q5JTW2-5]
ENST00000643273; ENSP00000496423; ENSG00000148019 [Q5JTW2-3]
GeneIDi84131
KEGGihsa:84131
UCSCiuc004akx.3 human [Q5JTW2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL353705 Genomic DNA No translation available.
BC091515 mRNA Translation: AAH91515.1 Sequence problems.
BC128058 mRNA Translation: AAI28059.1
AK022705 mRNA Translation: BAB14190.1
CCDSiCCDS47984.1 [Q5JTW2-2]
CCDS47985.1 [Q5JTW2-5]
CCDS83376.1 [Q5JTW2-3]
CCDS83377.1 [Q5JTW2-1]
RefSeqiNP_001092272.1, NM_001098802.1 [Q5JTW2-2]
NP_001317620.1, NM_001330691.1 [Q5JTW2-3]
NP_001317622.1, NM_001330693.1 [Q5JTW2-1]
NP_001317623.1, NM_001330694.1
NP_115547.1, NM_032171.1 [Q5JTW2-5]
UniGeneiHs.187621
Hs.374421

3D structure databases

ProteinModelPortaliQ5JTW2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123903, 39 interactors
IntActiQ5JTW2, 19 interactors
STRINGi9606.ENSP00000365782

PTM databases

iPTMnetiQ5JTW2
PhosphoSitePlusiQ5JTW2

Polymorphism and mutation databases

BioMutaiCEP78
DMDMi74742229

Proteomic databases

EPDiQ5JTW2
MaxQBiQ5JTW2
PaxDbiQ5JTW2
PeptideAtlasiQ5JTW2
PRIDEiQ5JTW2
ProteomicsDBi63235
63236 [Q5JTW2-2]
63237 [Q5JTW2-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000376597; ENSP00000365782; ENSG00000148019 [Q5JTW2-2]
ENST00000415759; ENSP00000399286; ENSG00000148019 [Q5JTW2-5]
ENST00000424347; ENSP00000411284; ENSG00000148019 [Q5JTW2-1]
ENST00000642669; ENSP00000495681; ENSG00000148019 [Q5JTW2-5]
ENST00000643273; ENSP00000496423; ENSG00000148019 [Q5JTW2-3]
GeneIDi84131
KEGGihsa:84131
UCSCiuc004akx.3 human [Q5JTW2-1]

Organism-specific databases

CTDi84131
EuPathDBiHostDB:ENSG00000148019.12
GeneCardsiCEP78
HGNCiHGNC:25740 CEP78
HPAiHPA048846
MalaCardsiCEP78
MIMi617110 gene
617236 phenotype
neXtProtiNX_Q5JTW2
OpenTargetsiENSG00000148019
PharmGKBiPA134937066
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4308 Eukaryota
ENOG410ZBX3 LUCA
GeneTreeiENSGT00390000013287
HOGENOMiHOG000015235
HOVERGENiHBG056294
InParanoidiQ5JTW2
KOiK16765
OMAiNCPIGDG
OrthoDBiEOG091G0AYV
PhylomeDBiQ5JTW2
TreeFamiTF328928

Enzyme and pathway databases

ReactomeiR-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-8854518 AURKA Activation by TPX2

Miscellaneous databases

ChiTaRSiCEP78 human
GeneWikiiCEP78
GenomeRNAii84131
PROiPR:Q5JTW2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148019 Expressed in 179 organ(s), highest expression level in secondary oocyte
CleanExiHS_CEP78
ExpressionAtlasiQ5JTW2 baseline and differential
GenevisibleiQ5JTW2 HS

Family and domain databases

Gene3Di3.80.10.10, 2 hits
InterProiView protein in InterPro
IPR026212 Cep78
IPR001611 Leu-rich_rpt
IPR032675 LRR_dom_sf
PfamiView protein in Pfam
PF13516 LRR_6, 2 hits
PRINTSiPR02062 CENTROSOME78
ProtoNetiSearch...

Entry informationi

Entry nameiCEP78_HUMAN
AccessioniPrimary (citable) accession number: Q5JTW2
Secondary accession number(s): A1A4S8
, E9PHX5, Q5BJE3, Q5JTW0, Q5JTW1, Q9H9N3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: February 15, 2005
Last modified: September 12, 2018
This is version 114 of the entry and version 1 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 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again