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RECQL4
HPA
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Gene name
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Class
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Chromosome
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Tissue
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Patient ID
Annotation
Tissue
Category
Tau score
Cluster
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Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
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Category
Tau score
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Tau score
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Category
Tau score
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Cluster
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Cancer
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Cancer
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Cancer
Category
Tau score
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Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
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Antibodies
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  • SUMMARY

  • TISSUE

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  • STRUCT & INT

  • RECQL4
STRUCTURE & INTERACTION STRUCTURE INTERACTION
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.

RECQL4
Synonyms RecQ4
Gene descriptioni

Full gene name according to HGNC.

RecQ like helicase 4
Protein classi

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

Cancer-related genes
Disease related genes
Enzymes
Human disease related genes
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 - Cell proliferation (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 (Oocytes, Plasma cells, Spermatocytes, Spermatogonia)
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.

Bone marrow - Cell proliferation (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 (Bone marrow, Testis)
Subcellular locationi

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

Localized to the Nucleoplasm
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 8
Cytoband q24.3
Chromosome location (bp) 144511288 - 144517845
Number of transcriptsi

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

6
Ensembl ENSG00000160957 (version 109)
Entrez gene 9401
HGNC HGNC:9949
UniProt O94761 (UniProt - Evidence at protein level)
neXtProt NX_O94761
GeneCards RECQL4
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
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.
RECQL4-202
RECQL4-204
RECQL4-205
RECQL4-208
RECQL4-209
RECQL4-210

Description:

Color scheme:
Confidence
Residue index
Your selection
Variants:
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Population
Clinical
Alphamissense variants:
Off
Benign
Pathogenic
Autorotate:
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On
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)
RECQL4-202
V9GYB6
Show all
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Show all
229 aa
24.9 kDa
No 0
RECQL4-204
A0A087WTJ0
Show all
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Show all
293 aa
33.3 kDa
No 0
RECQL4-205
V9GYA3
Show all
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Show all
352 aa
38.3 kDa
No 0
RECQL4-208
V9GZ64
Show all
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Show all
389 aa
42.8 kDa
No 0
RECQL4-209
O94761
Show all
Enzymes
Predicted intracellular proteins
Cancer-related genes
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Show all
1208 aa
133.1 kDa
No 0
RECQL4-210
A0A087X072
Show all
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Show all
851 aa
94.6 kDa
No 0
Show allShow less
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.

Filter menu »
Fields »
e.g. Brain enriched, Localized to mitochondria, Bone marrow - Cell proliferation

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: 5
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
BAG2171552769
PNMA293014023
PTGES3358596631
SF3B33411805845
TUBB201883082
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 1 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
TERF19712701
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 87
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
AHCYL14282200
ANKHD122970
ATG7681750
BAG2171552769
C1QBP12201071324
CDC1617928270
CDC4581116023
CDK1121912660
CDK229261391024
CSNK2A1996924718422
CTBP2272162230
CUL4A91213700
DDB13922169649
DNAJA111366199
EP300273436841
FBL1510184128
GINS359713
GINS44101104
HSPA1A1731300
HSPA8644344629101
HSPH18146220
IPO519748370
KPNB136141017111
LRRC1004015
MAPK1424256640
MCM10451370
MCM239481041021
MCM36194253
MCM4138431215
MCM55194912
MCM61617421115
MCM71526701124
MRE11676250
MRPS916234851
NAP1L11212451118
NAP1L4112307
NBN10125510
NPM1105272822080
NPM32823433100
PASK03530
PNMA293014023
PPM1G16536437
PPP2R1A50351221547
PPP2R2A71038012
PRKACB152800
PTGES3358596631
RAD503550100
RANBP610306
RBBP89123611
RCN21416010
RNF83423700
RNH1451319
RPL1044312341135
RPL135389651192
RPL144361034198
RPL15226932626
RPL18206923128
RPL19726110120109
RPL218270391
RPL2411380333
RPL28117443139
RPL34231110185
RPL30233843361
RPL32113444210
RPL35A4523135
RPL36A021000
RPL4929143124133
RPL61921253714
RPL7175103327
RPLP058610938162
RPS844411159137
SF3B33411805845
SIRT13448123017
SMNDC1851694
STAU13213369390
TERF2IP126729710
TIPIN25610
TRIM26271800
TUBB201883082
TUBB4B121489313
TUBB61426113
UBE2O228711229
UBR1271200
USP73537205711
USP9X229200
WRAP537613026
XRCC62122226152
Show allShow less
RECQL4 has no defined protein interactions in OpenCell.
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 23
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ACTL6B002026
AMZ1000017
BAG2171552769
F12013039
FAM167A272133
FHL3910321121
FOXD4042017
KLHL34000032
LOXL43163050
NEUROG3337041
NUBP21115022
PNMA293014023
PRKACG215012
PRKAG3628014
PTGES3358596631
RFXANK339061
SENP39830159
SF3B33411805845
SPATA5L1003023
TUBB201883082
UPP1001024
ZNF7643263016
ZNRD241010670
Show allShow less
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.

RECQL4 is not a metabolic protein

Contact

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


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