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PCBD1
HPA
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Brain region
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  • SUMMARY

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  • STRUCT & INT

  • PCBD1
STRUCTURE & INTERACTION STRUCTURE INTERACTION METABOLIC PATHWAYS Show tissue menu
BIOPTERIN METABOLISM
Protein structures
Protein interactions
Human metabolism
GENERAL INFORMATIONi

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.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

PCBD1
Synonyms DCOH, PCBD, PCD
Gene descriptioni

Full gene name according to HGNC.

Pterin-4 alpha-carbinolamine dehydratase 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Enzymes
Human disease related genes
Metabolic proteins
Potential drug targets
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.

Intracellular
Protein evidence Evidence at protein level (all genes)

HUMAN PROTEIN ATLAS INFORMATIONi

Summary of RNA expression analysis and annotation data generated within the Human Protein Atlas project.

Single cell type
expression clusteri

The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Non-specific - Basic cellular processes (mainly)
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.

Cell type enhanced (Hepatocytes, Proximal tubular cells)
Tissue expression
cluster (RNA)i

The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Liver - Metabolism (mainly)
Tissue specificity (RNA)i

The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.

Tissue enhanced (Liver)
Subcellular locationi

Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas.

Localized to the Nucleoplasm In addition localized to the Cytosol
Secretome annotationi

All genes with at least one predicted secreted isoform have been annotated and classified with the aim to determine if the corresponding protein(s) are:

  • secreted into blood
  • locally secreted
  • or actually being attached to membrane or retained in intracellular locations like mitochondria, endoplasmatic reticulum (ER), Golgi apparatus or lysosomes.

Not available
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.

Chromosome 10
Cytoband q22.1
Chromosome location (bp) 70882280 - 70888565
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

1
Ensembl ENSG00000166228 (version 109)
Entrez gene 5092
HGNC HGNC:8646
UniProt P61457 (UniProt - Evidence at protein level)
neXtProt NX_P61457
GeneCards PCBD1
ASSAYSi

Links to data of the different assays available in the Structure & Interaction resource of the Human Protein Atlas. Click on the miniature images to directly get to the respective section.

Proteinstructure Interaction Metabolic
PROTEIN BROWSERi

The Structure section provides in-house generated structures, predicted using the Alphafold source code, for the majority of the proteins and their related isoforms.

Displaying protein features on the AlphaFold structures

Individual splice variants can be selected in the top part of the Protein Browser (see below) and different transcript-related features such as transmembrane regions, InterPro domains and antigen sequences for antibodies can be displayed in the structure by clicking on the respective features in the Protein Browser.

Clinical and population-based amino acid variants based on data from the Ensembl variation database and AlphaMissense (AM) predictions can be highlighted using the sliders to the right of the structure. These can also be used to colour the entire structure by residue index or make the structure autorotate.The structures are displayed using the NGL Viewer and can also be zoomed-in and rotated manually.

The Protein Browser

The ProteinBrowser displays the antigen location on the target protein(s) and the features of the target protein. Transcript names and schematic transcript structures including exons, introns and UTRs for the different isoforms are shown on top, and can be used to switch between the structures for the different splice variants.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

Signal peptides (turquoise) and membrane regions (orange) based on predictions using the majority decision methods MDM and MDSEC are also displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
PCBD1-201

Description:

Color scheme:
Confidence
Residue index
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Variants:
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Alphamissense variants:
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Benign
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Autorotate:
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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 Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
PCBD1-201
P61457
Show all
Enzymes
Metabolic proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
104 aa
12 kDa
No 0
INTERACTIONi

In the Interaction part of this page network plots showing the gene's interaction partners according to four different datasets are displayed, including a consensus network plot showing only interactions present in at least two of the datasets. In the network plots the nodes represent genes and edge color represent the number of datasets the interaction belongs to.

The highlight bar in the top of the plot can be used to color the nodes according to subcellular location (based on data in the Subcellular section), predicted location (based on signalpeptide and transmembrane region predictions), tissue specificity (based on RNA tissue expression profiles) or proteinclass. For genes categorised as single cell type or group specific the option to highlight interaction partners expressed in the same cell type will also be available in the highlight bar.

Custom highlighting of nodes is possible using the top left Filter option in which a query of choice can be built to for example label all nodes that are tissue enriched in both human and mouse brain or those that belongs to a certain tissue expression cluster. The expression cluster for the gene is stated in the box Human Protein Atlas Information above the network plot. Click on Filter in the top left in the plot to find the query builder and some example queries.

Interactions included are direct interaction and physical associations with high and medium confidence from IntAct, physical multivalidated interactions from BioGRID, interactions with>75% probability from BioPlex and significant physical interactions from OpenCell.

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Fields »
e.g. Brain enriched, Localized to mitochondria, Liver - Metabolism

Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


Consensus
IntAct
BioGrid
OpenCell
BioPlex
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 4
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
FXR220614481
GORASP23411247420
HNF1B18500
PCBD219302
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 13 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ACIN111832227
APP4431413310
FXR220614481
GORASP23411247420
HNF1B18500
KANK24153630
LNX1123343400
NTAQ183021108
PCBD219302
PICK1102763309
PSMA13714378240
SDCBP62412600
TFF303200
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 6
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
DYRK1B6103500
FXR220614481
GORASP23411247420
HNF1A001300
HNF1B18500
PCBD219302
PCBD1 has no defined protein interactions in OpenCell.
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 3
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
LACTB0111018
PCBD219302
UBB23622516
METABOLIC SUMMARYi

In this summary the pathway/subsystems to which the gene belongs is shown together with the associated cellular compartment for the reactions based on metabolite information. The number of proteins and metabolites in the pathway is shown as well as the number of reactions for the selected gene. By clicking on a pathway in the summary table the associated metabolic network map is shown, together with a gene-tissue heatmap that shows the expression of genes in that pathway in different tissues.

Gene PCBD1 is associated with 7 reactions in 1 different subsystems, and present in the compartments: Cytosol, Nucleus. Provided by metabolicatlas.org
Pathway / Subsystem Subsystem-associated compartments # proteins # metabolites # reactions for
this protein
Biopterin metabolism Cytosol, Nucleus 12 25 7

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


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