CEP78 protein expression summary - The Human Protein Atlas

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CEP78

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HUMAN PROTEIN ATLAS SUMMARYⁱ General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Proteinⁱ Full gene name according to HGNC.	Centrosomal protein 78
Gene nameⁱ Official gene symbol, which is typically a short form of the gene name, according to HGNC.	CEP78 (C9orf81, FLJ12643)
Tissue specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed samples based on a combination of data from HPA, GTEX and FANTOM5. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected. Read more	Low tissue specificity
Single cell type specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected. Read more	Cell type enhanced (Cone photoreceptor cells, Spermatocytes, Rod photoreceptor cells)
Blood specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed blood cell samples based on data from HPA. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected. Read more	Immune cell enhanced (NK-cell)
Brain specificityⁱ The regional specificity category is based on mRNA expression levels in the analyzed brain samples, grouped into 10 main brain regions and calculated for the three different species. The human brain expression profile is based on a combination of data from GTEX and FANTOM5. The specificity categories include: regionally enriched, group enriched, regionally enhanced, low regional specificity and not detected. The classification rules are the same used for the tissue specificity category. Read more	Low human brain regional specificity
Cancer prognostic summary	Gene product is not prognostic
Predicted locationⁱ All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions. Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached. Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s). The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location. Read more	Intracellular
Protein function (UniProt)ⁱ Useful information about the protein provided by UniProt.	May be required for efficient PLK4 centrosomal localization and PLK4-induced overduplication of centrioles 1. May play a role in cilium biogenesis 2.... show less
Biological process (UniProt)ⁱ Keywords assigned by UniProt to proteins because they are involved in a particular biological process.	Cilium biogenesis/degradation
Disease involvementⁱ Disease related keywords assigned by UniProt combined with Cancer-related genes and FDA approved drug targets Read more	Ciliopathy, Cone-rod dystrophy, Deafness
Gene summary (Entrez)ⁱ Useful information about the gene from Entrez	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]... show less

TISSUE ATLASⁱ Summary of data presented in the Tissue Atlas and representative images of protein expression (left) and mRNA expression (right). The images are clickable and will redirect to more Tissue Atlas data. The Tissue Atlas contains information regarding the expression profiles of protein-coding genes in normal human tissue, both on the mRNA and protein level. The protein expression data is derived from antibody-based protein profiling using immunohistochemistry. Read more

Tissue specificity (RNA)ⁱ The RNA specificity category is based on mRNA expression levels in the analyzed samples based on a combination of data from HPA, GTEX and FANTOM5. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected. Read more	Low tissue specificity
Tissue distribution (RNA)ⁱ The RNA distribution category is based on mRNA expression levels in the analyzed samples based on a combination of data from HPA, GTEX and FANTOM5. The categories include: detected in all, detected in many, detected in some, detected in single and not detected. Read more	Detected in all
Protein expressionⁱ A summary of the overall protein expression pattern across the analyzed normal tissues. The summary is based on knowledge-based annotation. "Estimation of protein expression could not be performed. View primary data." is shown for genes analyzed with a knowledge-based approach where available RNA-seq and gene/protein characterization data has been evaluated as not sufficient in combination with immunohistochemistry data to yield a reliable estimation of the protein expression profile. Read more	Cytoplasmic expression in most tissues.

SINGLE CELL TYPE ATLASⁱ Summary of data presented in the Cell Type Atlas and an interactive image showing mRNA expression in cell type groups e.g. epithelial cells and germ cells. The image is clickable and will redirect to more Cell Type Atlas data. The Cell Type Atlas contains information about single cell type RNA expression based on scRNAseq of human tissues. The data also covers transcriptomics analysis of human blood and cultured cell lines. Read more

Cell type specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected. Read more	Cell type enhanced (Cone photoreceptor cells, Spermatocytes, Rod photoreceptor cells)
Cell line specificityⁱ RNA specificity category based on RNA sequencing data from all cell lines in the Human Protein Atlas. Genes are classified into six different categories (enriched, group enriched, enhanced, low specificity and not detected) according to their RNA expression levels across the panel of cell lines.	Low cell line specificity

PATHOLOGY ATLASⁱ Summary of data presented in the Pathology Atlas , with representative images of protein expression in cancer (left) and correlation between mRNA expression and patient survival (right). Images are clickable and redirect to pages with more Pathology Atlas data. The Pathology Atlas contains mRNA and protein expression data from 17 different forms of human cancer, as well as correlation analysis of mRNA expression and patient survival. The protein expression data is derived from antibody-based protein profiling using immunohistochemistry. Read more

Prognostic summary	Gene product is not prognostic
Cancer specificity (RNA)ⁱ Specificity of RNA expression in 17 cancer types is categorized as either cancer enriched, group enriched, cancer enhanced, low cancer specificity and not detected. Read more	Low cancer specificity
Cancer distribution (RNA)ⁱ Distribution of RNA expression in 17 cancer types is categorized as either detected in single, detected in some, detected in many, detected in all, or not detected. Read more	Detected in all

BRAIN ATLASⁱ Summary of data presented in the Brain Atlas and a representative image of mRNA expression in the human brain. The image is clickable and will redirect to more Brain Atlas data. The Brain Atlas explores the protein expression in the mammalian brain by visualization and integration of data from three mammalian species (human, pig and mouse). Transcriptomics data combined with affinity-based protein in situ localization down to single cell level is available in a brain-centric sub atlas of the Human Protein Atlas. Read more

Human regional specificityⁱ The regional specificity category is based on mRNA expression levels in the analyzed brain samples, grouped into 10 main brain regions and calculated for the three different species. The human brain expression profile is based on a combination of data from GTEX and FANTOM5. The specificity categories include: regionally enriched, group enriched, regionally enhanced, low regional specificity and not detected. The classification rules are the same used for the tissue specificity category. Read more	Low region specificity
Pig regional specificityⁱ The regional specificity category is based on mRNA expression levels in the analyzed brain samples, grouped into 10 main brain regions and calculated for the three different species. The human brain expression profile is based on a combination of data from GTEX and FANTOM5. The specificity categories include: regionally enriched, group enriched, regionally enhanced, low regional specificity and not detected. The classification rules are the same used for the tissue specificity category. Read more	Low region specificity
Mouse regional specificityⁱ The regional specificity category is based on mRNA expression levels in the analyzed brain samples, grouped into 10 main brain regions and calculated for the three different species. The human brain expression profile is based on a combination of data from GTEX and FANTOM5. The specificity categories include: regionally enriched, group enriched, regionally enhanced, low regional specificity and not detected. The classification rules are the same used for the tissue specificity category. Read more	Low region specificity

BLOOD ATLASⁱ Summary of data presented in the Blood Atlas and a representative image of mRNA expression in immune cells in the blood. The image is clickable and will redirect to more Blood Atlas data. The Blood Atlas contains single cell type RNA information covering various immune cells in the blood, e.g. B-cells and granulocytes. Analysis of the human secretome (including annotation of the genes predicted to be actively secreted to human blood) and proteins detected in human blood are also presented. Read more

Immune cell specificityⁱ The RNA specificity category is based on mRNA expression levels in the analyzed samples based on data from HPA. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected. Read more	Cell type enhanced (NK-cell)
Detected in blood by immunoassayⁱ The blood-based immunoassay category applies to actively secreted proteins and is based on plasma or serum protein concentrations established with enzyme-linked immunosorbent assays, compiled from a literature search. The categories include: detected and not detected, where detection refers to a concentration found in the literature search. Read more	No (not applicable)
Detected in blood by mass spectrometryⁱ Detection or not of the gene in blood, based on spectral count estimations from a publicly available mass spectrometry-based plasma proteomics data set obtained from the PeptideAtlas.	No

CELL ATLASⁱ Summary of data presented in the Cell Atlas and a representative image of subcellular localization. The Cell Atlas provides RNA expression data derived from RNA sequencing of a large panel of cell lines and protein localization data derived from antibody-based profiling by immunofluorescence confocal microscopy, using a subset of cell lines selected based on RNA expression. Read more

Main locationⁱ Main subcellular location(s) and reliability score(s) for the encoded protein(s) in human cells. The main location(s) may be characterized by presence in all tested cell lines and/or ihigher staining intensity compared to the potential additional location(s). If available, links to overrepresentation analyses in Reactome, a free, open-source, curated and peer reviewed biological pathway database, are provided. An analysis is done for the corresponding gene set of the proteome localizing to the main and additional locations of the protein on this page, respectively. Read more	Not available
Cell cycle dependencyⁱ Cell-cycle dependance of single-cell varations in RNA and/or protein expression as observed in an additional assay for characterizing single-cell varations. "NA" indicates a lack of such data. Read more	NA

GENE INFORMATIONⁱ Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Gene name	CEP78 (HGNC Symbol)
Synonyms	C9orf81, FLJ12643
Description	Centrosomal protein 78 (HGNC Symbol)
Chromosome	9
Cytoband	q21.2
Chromosome location (bp)	78236062 - 78279690
Number of transcriptsⁱ Number of protein-coding transcripts from the gene as defined by Ensembl.	14
Protein evidence	Evidence at protein level (all genes)
Protein classⁱ Assigned HPA protein class(es) for the encoded protein(s). Read more	Disease related genes
Ensembl	ENSG00000148019 (version 92.38)
Entrez gene	84131
UniProt	Q5JTW2 (UniProt - Evidence at protein level)
neXtProt	NX_Q5JTW2
Antibodypedia	CEP78 antibodies

PROTEIN BROWSERⁱ

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CEP78-201

CEP78-202

CEP78-203

CEP78-204

CEP78-205

CEP78-212

CEP78-214

CEP78-215

CEP78-216

CEP78-217

CEP78-218

CEP78-219

CEP78-220

CEP78-224

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PROTEIN INFORMATIONⁱ The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database. The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein. The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class. The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
CEP78-201 ENSP00000277082 ENST00000277082	A8MST6 [Direct mapping] Centrosomal protein of 78 kDa Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005515 [protein binding] Show all	705 aa 78.2 kDa	No	0
CEP78-202 ENSP00000365782 ENST00000376597	Q5JTW2 [Direct mapping] Centrosomal protein of 78 kDa Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Peptideatlas) Show all	GO:0000086 [G2/M transition of mitotic cell cycle] GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005813 [centrosome] GO:0005814 [centriole] GO:0005815 [microtubule organizing center] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0005929 [cilium] GO:0010389 [regulation of G2/M transition of mitotic cell cycle] GO:0030030 [cell projection organization] GO:0036064 [ciliary basal body] GO:0042995 [cell projection] GO:0044782 [cilium organization] GO:0097711 [ciliary basal body-plasma membrane docking] Show all	722 aa 80.1 kDa	No	0
CEP78-203 ENSP00000365783 ENST00000376598	Q5JTW2 [Direct mapping] Centrosomal protein of 78 kDa Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Peptideatlas) Show all	GO:0000086 [G2/M transition of mitotic cell cycle] GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005813 [centrosome] GO:0005814 [centriole] GO:0005815 [microtubule organizing center] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0005929 [cilium] GO:0010389 [regulation of G2/M transition of mitotic cell cycle] GO:0030030 [cell projection organization] GO:0036064 [ciliary basal body] GO:0042995 [cell projection] GO:0044782 [cilium organization] GO:0097711 [ciliary basal body-plasma membrane docking] Show all	711 aa 79 kDa	No	0
CEP78-204 ENSP00000399286 ENST00000415759	Q5JTW2 [Direct mapping] Centrosomal protein of 78 kDa Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Peptideatlas) Show all	GO:0000086 [G2/M transition of mitotic cell cycle] GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005813 [centrosome] GO:0005814 [centriole] GO:0005815 [microtubule organizing center] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0005929 [cilium] GO:0010389 [regulation of G2/M transition of mitotic cell cycle] GO:0030030 [cell projection organization] GO:0036064 [ciliary basal body] GO:0042995 [cell projection] GO:0044782 [cilium organization] GO:0097711 [ciliary basal body-plasma membrane docking] Show all	706 aa 78.3 kDa	No	0
CEP78-205 ENSP00000411284 ENST00000424347	Q5JTW2 [Direct mapping] Centrosomal protein of 78 kDa Show all	Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Peptideatlas) Show all	GO:0000086 [G2/M transition of mitotic cell cycle] GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005813 [centrosome] GO:0005814 [centriole] GO:0005815 [microtubule organizing center] GO:0005829 [cytosol] GO:0005856 [cytoskeleton] GO:0005929 [cilium] GO:0010389 [regulation of G2/M transition of mitotic cell cycle] GO:0030030 [cell projection organization] GO:0036064 [ciliary basal body] GO:0042995 [cell projection] GO:0044782 [cilium organization] GO:0097711 [ciliary basal body-plasma membrane docking] Show all	689 aa 76.4 kDa	No	0
CEP78-212 ENSP00000493662 ENST00000642214		Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005515 [protein binding] Show all	685 aa 75.9 kDa	No	0
CEP78-214 ENSP00000495681 ENST00000642669		Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005515 [protein binding] Show all	706 aa 78.3 kDa	No	0
CEP78-215 ENSP00000496423 ENST00000643273		Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005515 [protein binding] Show all	705 aa 78.2 kDa	No	0
CEP78-216 ENSP00000494781 ENST00000643347		Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005515 [protein binding] Show all	711 aa 79.1 kDa	No	0
CEP78-217 ENSP00000495962 ENST00000643499		Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005515 [protein binding] Show all	727 aa 80.8 kDa	No	0
CEP78-218 ENSP00000494276 ENST00000643847		Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005515 [protein binding] Show all	673 aa 74.9 kDa	No	0
CEP78-219 ENSP00000493600 ENST00000644208		Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005515 [protein binding] Show all	717 aa 79.7 kDa	No	0
CEP78-220 ENSP00000493822 ENST00000645398		Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005515 [protein binding] Show all	721 aa 80 kDa	No	0
CEP78-224 ENSP00000496384 ENST00000647199		Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Show all	GO:0005515 [protein binding] Show all	696 aa 77.3 kDa	No	0

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The Human Protein Atlas

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