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PAFAH1B1
HPA
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Brain region
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Brain region
Category
Tau score
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Interacting gene (ensg_id)
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ipTM
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  • SUMMARY

  • TISSUE

  • BRAIN

  • SINGLE CELL

  • SUBCELL

  • CANCER

  • BLOOD

  • CELL LINE

  • STRUCTURE

  • INTERACTION

  • PAFAH1B1
INTERACTION INTERACTION METABOLIC PATHWAYS Show tissue menu
GLYCEROPHOSPHOLIPID METABOLISM
Protein interactions
Protein interactions
Methods
Human metabolism
Metabolic proteins
Methods
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.

PAFAH1B1
Synonyms LIS1, MDCR, MDS, NudF, PAFAH
Gene descriptioni

Full gene name according to HGNC.

Platelet activating factor acetylhydrolase 1b regulatory subunit 1
Protein classi

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

Read more
Disease related genes
Essential proteins
Human disease related genes
Metabolic proteins
Plasma proteins
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.

Elongating spermatids - Sperm cell metabolism & fertilization (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 (Late spermatids, Neutrophils)
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.

Non-specific - Basic cellular processes (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.

Low tissue specificity
Subcellular locationi

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

Localized to the Centrosome In addition localized to the Mid piece
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 17
Cytoband p13.3
Chromosome location (bp) 2593210 - 2685615
Number of transcriptsi

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

11
Ensembl ENSG00000007168 (version 109)
Entrez gene 5048
HGNC HGNC:8574
UniProt P43034
GeneCards PAFAH1B1
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.

Interaction Metabolic
INTERACTIONi

In the Interaction part of this page network plots showing the gene's first-level 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. By clicking on nodes the network can be expanded. In the network plots the nodes represent genes and edge color represent the number of datasets the interaction belongs to. In-house generated AlphaFold 3 predicted 3D structures for interactions in the consensus network are displayed by clicking on the blue symbols on the edges.

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.

Filter menu »
Fields »
e.g. Brain enriched, Localized to mitochondria, Non-specific - Basic cellular processes

Field
Term
Gene name
Class
Subclass
Category
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 group
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
ipTM
Category
Category
Category
Category
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


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

Non-commercial use only, subject to AlphaFold3 Output Terms of Use

Interaction:
Color scheme:
Confidence
Antibodies
Interactor
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PAE plot
Number of interactions: 16
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
CLIP17213480
DCTN12115110220
DISC1311054200
DYNC1H1173761331
DYNC1I215643130
DYNC1LI116428349
DYNLL1104601421177
HSP90AA15157369230
MAPRE15437931984
NDE135800
NDEL117632830
NUDCD381619115
PAFAH1B223402
PAFAH1B338402
YWHAG25427143322213
YWHAH130363951446
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class

Number of interactions: 17 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
DCTN12115110220
DISC1311054200
DYNC1H1173761331
DYNC1I215643130
DYNC1LI116428349
DYNLRB207000
DYNLT1113629163
DYNLT348741
GID8121717433
HSP90AA15157369230
MAPRE15437931984
NDE135800
NDEL117632830
NUDCD238830
NUDCD381619115
PAFAH1B223402
PAFAH1B338402
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class

Number of interactions: 30
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ACAA21010124
ASNS021110
CCSER2121100
CLIP17213480
CUL4A71013800
CUL4B61116940
DCTN12115110220
DCX114600
DDB13922173649
DISC1311054200
DYNC1H1173761331
DYNC1I1441710
DYNC1I215643130
DYNC1LI116428349
DYNLL1104601421177
HSP90AA15157369230
KATNA122914
KATNB1531106
MAPRE15437931984
NDE135800
NDEL117632830
NUDC6143244
NUDCD381619115
PAFAH1B223402
PAFAH1B338402
PDE4D161200
PRKN1111140500
RACK156991442081
YWHAG25427143322213
YWHAH130363951446
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class

Number of interactions: 20
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ACTB772719511134
ACTG13015751160
CAPZB10061336660
CLASP111517330
CLASP210419230
CLIP17213480
DYNC1H1173761331
DYNC1I215643130
DYNC1LI116428349
DYNC1LI2611782
DYNLL1104601421177
DYNLL28351991023
MAPRE15437931984
SAR1B33312611
TUBB4B141529313
YWHAB183933372450
YWHAE23512338332412
YWHAG25427143322213
YWHAH130363951446
YWHAZ2221643483248
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class

Number of interactions: 2
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
PAFAH1B223402
PAFAH1B338402
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 PAFAH1B1 is associated with 2 reactions in 1 different subsystems, and present in the compartments: Cytosol. Provided by metabolicatlas.org
Pathway / Subsystem Subsystem-associated compartments # proteins # metabolites # reactions for
this protein
Glycerophospholipid metabolism Cytosol, Nucleus, Extracellular, Peroxisome, Mitochondria, Endoplasmic reticulum, Golgi apparatus 106 96 2
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)
PAFAH1B1-202 P43034
Metabolic proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Essential proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
410 aa
46.6 kDa
No 0
PAFAH1B1-208 I3L3N5
Metabolic proteins
Predicted intracellular proteins
Human disease related genes
Essential proteins
Protein evidence (Ezkurdia et al 2014)
Show all
208 aa
23.7 kDa
No 0
PAFAH1B1-211 I3L495
Metabolic proteins
Predicted intracellular proteins
Human disease related genes
Essential proteins
Protein evidence (Ezkurdia et al 2014)
Show all
82 aa
9.6 kDa
No 0
PAFAH1B1-214 A0A6Q8PFU3
Metabolic proteins
Predicted intracellular proteins
Human disease related genes
Essential proteins
Protein evidence (Ezkurdia et al 2014)
Show all
428 aa
48.8 kDa
No 0
PAFAH1B1-215 A0A6Q8PFT2
Metabolic proteins
Predicted intracellular proteins
Human disease related genes
Essential proteins
Protein evidence (Ezkurdia et al 2014)
Show all
345 aa
38.9 kDa
No 0
PAFAH1B1-217 P43034
Metabolic proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Essential proteins
Protein evidence (Ezkurdia et al 2014)
Show all
410 aa
46.6 kDa
No 0
PAFAH1B1-218 P43034
Metabolic proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Essential proteins
Protein evidence (Ezkurdia et al 2014)
Show all
410 aa
46.6 kDa
No 0
PAFAH1B1-220 P43034
Metabolic proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Essential proteins
Protein evidence (Ezkurdia et al 2014)
Show all
410 aa
46.6 kDa
No 0
PAFAH1B1-226 P43034
Metabolic proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Essential proteins
Protein evidence (Ezkurdia et al 2014)
Show all
410 aa
46.6 kDa
No 0
PAFAH1B1-227 P43034
Metabolic proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Essential proteins
Protein evidence (Ezkurdia et al 2014)
Show all
410 aa
46.6 kDa
No 0
PAFAH1B1-229 A0A6Q8PFT2
Metabolic proteins
Predicted intracellular proteins
Human disease related genes
Essential proteins
Protein evidence (Ezkurdia et al 2014)
Show all
345 aa
38.9 kDa
No 0
Show allShow less

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