PKHD1L1 protein expression summary - The Human Protein Atlas

We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.

Field

Pathway

HELP

NEWS

PKHD1L1

SUMMARY

TISSUE

CELL

PATHOLOGY

BRAIN

BLOOD

GENERAL INFORMATIONⁱ General description of the gene and encoded protein(s) using information from HGNC and Ensembl, as well as predictions made as well as predictions made by the Human Protein Atlas project.
Gene nameⁱ Gene name according to HGNC.	PKHD1L1
Gene description	PKHD1 like 1
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	Membrane
Number of transcriptsⁱ Number of protein-coding transcribed from this gene as defined by Ensembl.	2
Protein evidenceⁱ Protein evidence scores are generated from several independent sources and are classified as evidence at i) protein level, ii) transcript level, iii) no evidence, or iv) not available.	Evidence at protein level
	SHOW MORE

TISSUE ATLASⁱ

RNA 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	Tissue enriched (thyroid gland)
RNA tissue distributionⁱ 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 many
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, highly abuntant in subsets of immune cells.

CELL ATLASⁱ

Main locationⁱ The main location is characterized by presence in all tested cell lines and/or increased intensity compared to other locations. It is highlighted in the illustration to the right. 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.	Not available
RNA cell specificityⁱ The cell lines in the Human Protein Atlas have been analyzed by RNA-seq to estimate the transcript abundance of each protein-coding gene. The RNA-seq data was then used to classify all genes according to their cell line-specific expression into one of six different categories, defined based on the total set of all NX values in all analyzed cell lines. Read more	Cell line enhanced (HHSteC, HUVEC TERT2, TIME, U-266/70)
RNA cell distributionⁱ Classification of genes according to distribution of their RNA expression among the cell lines within the HPA. The categories include: detected in all, detected in many, detected in some, detected in single and not detected. Read more	Detected in some

PATHOLOGY ATLASⁱ

Endometrial cancer p<0.001

Cancer expression 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	Group enriched (endometrial cancer, ovarian cancer, thyroid cancer)
Cancer expression 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 some
Prognostic summary	Prognostic marker in endometrial cancer (favourable)

BRAIN ATLAS

	Human brain	Pig brain	Mouse brain
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	Region enhanced (pons and medulla)	Low region specificity	Not detected
Regional distributionⁱ The regional distribution category is based on mRNA expression detected above cut off or not in the analyzed brain samples, grouped into 10 main brain regions and calculated for the three different species. The human brain expression is based on a combination of data from GTEX and FANTOM5. The distribution categories include: detected in all, detected in many, detected in some, detected in single and not detected. The classification rules are the same used for the tissue distribution category. Read more	Detected in single	Detected in many	Not detected

BLOOD ATLAS

RNA blood cell type 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	Group enriched (memory B-cell, naive B-cell)
RNA blood cell type distributionⁱ The RNA distribution category is based on mRNA expression levels in the analyzed samples based on data from HPA. The categories include: detected in all, detected in many, detected in some, detected in single and not detected. Read more	Detected in some
Blood-based 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	Not analysed since only proteins predicted to be actively secreted to blood is analysed here
Mass spectrometry:ⁱ 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.	Detected

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	PKHD1L1
Synonyms
Description	PKHD1 like 1 (HGNC Symbol)
Entrez gene summary
Chromosome	8
Cytoband
Chromosome location (bp)	109362477 - 109530330
Protein evidence	Evidence at protein level (all genes)
Protein classⁱ Protein class(es) of the gene product according to selected gene lists. List of protein classes.	Predicted membrane proteins
Ensembl	ENSG00000205038 (version 92.38)
Entrez gene	93035
UniProt	Q86WI1 (UniProt - Evidence at transcript level)
neXtProt	NX_Q86WI1
Antibodypedia	PKHD1L1 antibodies

PROTEIN BROWSERⁱ

PKHD1L1-201

PKHD1L1-202

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)
PKHD1L1-201 ENSP00000367655 ENST00000378402	Q86WI1 [Direct mapping] Fibrocystin-L Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Peptideatlas) Show all	GO:0004872 [receptor activity] GO:0005615 [extracellular space] GO:0005829 [cytosol] GO:0005929 [cilium] GO:0006955 [immune response] GO:0016020 [membrane] GO:0016021 [integral component of membrane] Show all	4243 aa 465.7 kDa	Yes	1
PKHD1L1-202 ENSP00000437376 ENST00000526472	H0YF65 [Direct mapping] Fibrocystin-L Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Show all		1171 aa 129.1 kDa	No	1

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.