Seroatlas · Human Serome Atlas

CEP78

Centrosomal protein of 78 kDa

Also known as: C9orf81, CEP78_HUMAN, FLJ12643

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q5JTW2
Gene: CEP78
Ensembl: ENSG00000148019
Chromosome: 9
Canonical length: 689 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a centrosomal protein that is both required for the regulation of centrosome-related events during the cell cycle, and required for ciliogenesis. The encoded protein has an N-terminal leucine-rich repeat (LRR) domain with six consecutive LRR repeats, and a C-terminal coiled-coil domain. It interacts with the N-terminal catalytic domain of polo-like kinase 4 (PLK4) and colocalizes with PLK4 to the distal end of the centriole. Naturally occurring mutations in this gene cause defects in primary cilia that result in retinal degeneration and sensorineural hearing loss which are associated with cone-rod degeneration disease as well as Usher syndrome. Low expression of this gene is associated with poor prognosis of colorectal cancer patients. [provided by RefSeq, Mar 2017]

Canonical amino-acid sequenceUniProt

689 residues, UniProt reviewed canonical sequence.

>Q5JTW2|CEP78
     1  MIDSVKLRRD SAADFFSHYE YLCALQNSVP LPAVRACLRE GVLDFNADRL RGVDWAPLLS
    61  TLKINKDLPL VSIKSFFQPW LGDTGSDMNK FCRSRVPAIR YKDVTFQLCK ALKGCLSISS
   121  VLKNLELNGL ILRERDLTIL AKGLNKSASL VHLSLANCPI GDGGLEIICQ GIKSSITLKT
   181  VNFTGCNLTW QGADHMAKIL KYQTMRRHEE TWAESLRYRR PDLDCMAGLR RITLNCNTLI
   241  GDLGACAFAD SLSEDLWLRA LDLQQCGLTN EGAKALLEAL ETNTTLVVLD IRKNPLIDHS
   301  MMKAVIKKVL QNGRSAKSEY QWITSPSVKE PSKTAKQKRR TIILGSGHKG KATIRIGLAT
   361  KKPVSSGRKH SLGKEYYAPA PLPPGVSGFL PWRTAERAKR HRGFPLIKTR DICNQLQQPG
   421  FPVTVTVESP SSSEVEEVDD SSESVHEVPE KTSIEQEALQ EKLEECLKQL KEERVIRLKV
   481  DKRVSELEHE NAQLRNINFS LSEALHAQSL TNMILDDEGV LGSIENSFQK FHAFLDLLKD
   541  AGLGQLATMA GIDQSDFQLL GHPQMTSTVS NPPKEEKKAL EDEKPEPKQN ALGQMQNIQF
   601  QKITGDARIP LPLDSFPVPV STPEGLGTSS NNLGVPATEQ RQESFEGFIA RMCSPSPDAT
   661  SGTGSQRKEE ELSRNSRSSS EKKTKTESH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CEP78 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.47
Highest tissue expression: 14 nTPM

Expression across tissuesHPA

Tissue

testis: 14 nTPM
bone marrow: 12 nTPM
thymus: 11 nTPM
retina: 8.6 nTPM
tonsil: 7.3 nTPM
lymph node: 5.8 nTPM

Single-cell type

cone photoreceptor cells: 180 nCPM
nk-cells: 164 nCPM
respiratory deuterosomal cells: 121 nCPM
early primary spermatocytes: 111 nCPM
rod photoreceptor cells: 83 nCPM
monocyte progenitors: 77 nCPM

Immune cell

NK-cell: 39 nTPM
gdT-cell: 18 nTPM
memory CD8 T-cell: 16 nTPM
T-reg: 13 nTPM
naive CD8 T-cell: 13 nTPM
MAIT T-cell: 8.9 nTPM

Brain region

white matter: 14 nTPM
cerebellum: 14 nTPM
spinal cord: 12 nTPM
basal ganglia: 12 nTPM
hypothalamus: 12 nTPM
medulla oblongata: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CEP78.

Disease | AllUniProt

Conditions CEP78 is implicated in, by any mechanism.

Cone-rod dystrophy and hearing loss 1 (CRDHL1) MIM:617236

Disease | GeneticClinVar

72 pathogenic / likely-pathogenic of 652 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.02
gnomAD pLI: 0
gnomAD missense Z: -0.58
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CEP78 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CEP78 as an antibody target. Whether an autoantibody or antibody against CEP78 could matter depends on whether native CEP78 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CEP78 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CEP78 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...