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Aliases for WDR41 Gene

Aliases for WDR41 Gene

  • WD Repeat Domain 41 2 3 5
  • WD Repeat-Containing Protein 41 3
  • MSTP048 3

External Ids for WDR41 Gene

Previous GeneCards Identifiers for WDR41 Gene

  • GC05M076813
  • GC05M076763
  • GC05M076721
  • GC05M071934

Summaries for WDR41 Gene

GeneCards Summary for WDR41 Gene

WDR41 (WD Repeat Domain 41) is a Protein Coding gene. Diseases associated with WDR41 include Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 and Amyotrophic Lateral Sclerosis 1.

UniProtKB/Swiss-Prot for WDR41 Gene

  • Non-catalytic component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:27193190, PubMed:27103069, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:27103069). The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activity (PubMed:27103069, PubMed:27617292).

Additional gene information for WDR41 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WDR41 Gene

Genomics for WDR41 Gene

GeneHancer (GH) Regulatory Elements for WDR41 Gene

Promoters and enhancers for WDR41 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I077490 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 568.2 +128.9 128929 2.8 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B WDR41 PDE8B GC05M077504 GC05M077427
GH05I077620 Enhancer 0.6 ENCODE 550.8 0.0 0 0.2 SMARCA5 CTCF RFX1 MAX NEUROD1 SIN3A DPF2 ELF1 BMI1 FOXA1 WDR41 GC05M077626
GH05I077645 Enhancer 1.6 VISTA UCNEbase 11.9 -24.7 -24680 0.6 HDGF ARNT YBX1 GLI4 ZNF2 ZNF416 ZNF143 KLF7 ZNF548 ZNF202 RPL7P23 SCAMP1 WDR41 AP3B1 AGGF1 OTP GC05M077675
GH05I077426 Enhancer 0.6 ENCODE 16 +194.4 194420 0.2 GATAD2A ETS1 FOXA1 SP1 ZNF217 CTBP1 GATA3 ZBTB33 FOS NR2F6 WDR41 GC05M077427 GC05M077395 PDE8B
GH05I077301 Enhancer 0.6 ENCODE 4.2 +318.9 318940 0.2 ZSCAN18 ZBTB21 ZEB2 ZNF518A ATF2 NR2F2 SP1 GATA3 ZNF600 FOSL2 WDR41 ALDH7A1P1 GC05P077342 PDE8B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around WDR41 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the WDR41 gene promoter:

Genomic Locations for WDR41 Gene

Genomic Locations for WDR41 Gene
chr5:77,425,970-77,620,611
(GRCh38/hg38)
Size:
194,642 bases
Orientation:
Minus strand
chr5:76,721,795-76,916,436
(GRCh37/hg19)

Genomic View for WDR41 Gene

Genes around WDR41 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WDR41 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WDR41 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR41 Gene

Proteins for WDR41 Gene

  • Protein details for WDR41 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HAD4-WDR41_HUMAN
    Recommended name:
    WD repeat-containing protein 41
    Protein Accession:
    Q9HAD4
    Secondary Accessions:
    • B4DT55
    • Q7Z792
    • Q8IWG3
    • Q8IXA9
    • Q8NDA7
    • Q9NV62

    Protein attributes for WDR41 Gene

    Size:
    459 amino acids
    Molecular mass:
    51728 Da
    Quaternary structure:
    • Component of the C9orf72-SMCR8 complex, at least composed of C9orf72, SMCR8 and WDR41 (PubMed:27193190, PubMed:27103069, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex associates with the ATG1/ULK1 kinase complex (PubMed:27617292, PubMed:28195531).
    SequenceCaution:
    • Sequence=AAO06948.1; Type=Frameshift; Positions=188; Evidence={ECO:0000305};

    Alternative splice isoforms for WDR41 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WDR41 Gene

Post-translational modifications for WDR41 Gene

  • Ubiquitination at isoforms=2276, posLast=319319, and posLast=354354
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for WDR41 Gene

Domains & Families for WDR41 Gene

Gene Families for WDR41 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with WDR41: view

No data available for UniProtKB/Swiss-Prot for WDR41 Gene

Function for WDR41 Gene

Molecular function for WDR41 Gene

UniProtKB/Swiss-Prot Function:
Non-catalytic component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:27193190, PubMed:27103069, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:27103069). The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activity (PubMed:27103069, PubMed:27617292).

Phenotypes From GWAS Catalog for WDR41 Gene

Gene Ontology (GO) - Molecular Function for WDR41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28195531
GO:0017112 contributes_to Rab guanyl-nucleotide exchange factor activity IDA 27103069
genes like me logo Genes that share ontologies with WDR41: view
genes like me logo Genes that share phenotypes with WDR41: view

Animal Model Products

Clone Products

  • Addgene plasmids for WDR41

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for WDR41 Gene

Localization for WDR41 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDR41 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WDR41 gene
Compartment Confidence
lysosome 5
nucleus 3
cytosol 3
mitochondrion 2
golgi apparatus 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for WDR41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 27193190
GO:0005765 lysosomal membrane HDA,IDA 17897319
GO:0032045 guanyl-nucleotide exchange factor complex IDA 27103069
GO:1990316 colocalizes_with Atg1/ULK1 kinase complex IDA 27193190
genes like me logo Genes that share ontologies with WDR41: view

Pathways & Interactions for WDR41 Gene

SuperPathways for WDR41 Gene

No Data Available

Gene Ontology (GO) - Biological Process for WDR41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006914 autophagy IEA --
GO:0010506 regulation of autophagy IMP 27103069
GO:0065009 regulation of molecular function IEA --
genes like me logo Genes that share ontologies with WDR41: view

No data available for Pathways by source and SIGNOR curated interactions for WDR41 Gene

Drugs & Compounds for WDR41 Gene

No Compound Related Data Available

Transcripts for WDR41 Gene

Unigene Clusters for WDR41 Gene

WD repeat domain 41:
Representative Sequences:

Clone Products

  • Addgene plasmids for WDR41

Alternative Splicing Database (ASD) splice patterns (SP) for WDR41 Gene

No ASD Table

Relevant External Links for WDR41 Gene

GeneLoc Exon Structure for
WDR41
ECgene alternative splicing isoforms for
WDR41

Expression for WDR41 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for WDR41 Gene

Protein differential expression in normal tissues from HIPED for WDR41 Gene

This gene is overexpressed in Testis (30.0), Frontal cortex (16.0), and Peripheral blood mononuclear cells (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for WDR41 Gene



Protein tissue co-expression partners for WDR41 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of WDR41 Gene:

WDR41

SOURCE GeneReport for Unigene cluster for WDR41 Gene:

Hs.482573

Evidence on tissue expression from TISSUES for WDR41 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with WDR41: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for WDR41 Gene

Orthologs for WDR41 Gene

This gene was present in the common ancestor of chordates.

Orthologs for WDR41 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WDR41 33 34
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia WDR41 33 34
  • 93.03 (n)
cow
(Bos Taurus)
Mammalia WDR41 33 34
  • 91.21 (n)
oppossum
(Monodelphis domestica)
Mammalia WDR41 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR41 34
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wdr41 33 16 34
  • 83.26 (n)
rat
(Rattus norvegicus)
Mammalia Wdr41 33
  • 80.89 (n)
chicken
(Gallus gallus)
Aves WDR41 33 34
  • 77.41 (n)
lizard
(Anolis carolinensis)
Reptilia WDR41 34
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.33944 33
zebrafish
(Danio rerio)
Actinopterygii wdr41 33 34
  • 60.92 (n)
Species where no ortholog for WDR41 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for WDR41 Gene

ENSEMBL:
Gene Tree for WDR41 (if available)
TreeFam:
Gene Tree for WDR41 (if available)

Paralogs for WDR41 Gene

No data available for Paralogs for WDR41 Gene

Variants for WDR41 Gene

Sequence variations from dbSNP and Humsavar for WDR41 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs10536220 benign, uncertain-significance, Striatal Degeneration 77,427,402(-) AAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAA/AAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAA genic_downstream_transcript_variant, intron_variant
rs144907726 likely-benign, Striatal Degeneration 77,426,990(-) C/T genic_downstream_transcript_variant, non_coding_transcript_variant
rs1580 likely-benign, Striatal Degeneration 77,428,144(-) T/A genic_downstream_transcript_variant, intron_variant
rs16874261 benign, Striatal Degeneration 77,427,010(-) A/G genic_downstream_transcript_variant, non_coding_transcript_variant
rs184498073 likely-benign, Striatal Degeneration 77,427,202(-) T/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for WDR41 Gene

Variant ID Type Subtype PubMed ID
dgv5704n100 CNV gain 25217958
esv3306262 CNV mobile element insertion 20981092
esv3309023 CNV mobile element insertion 20981092
esv3346437 CNV insertion 20981092
esv3347542 CNV insertion 20981092
esv3358065 CNV insertion 20981092
esv3426709 CNV insertion 20981092
nsv1123962 CNV deletion 24896259
nsv1125845 CNV tandem duplication 24896259
nsv1132611 CNV duplication 24896259
nsv820138 CNV loss 19587683

Variation tolerance for WDR41 Gene

Residual Variation Intolerance Score: 87.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.93; 49.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WDR41 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WDR41

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WDR41 Gene

Disorders for WDR41 Gene

MalaCards: The human disease database

(2) MalaCards diseases for WDR41 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search WDR41 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for WDR41

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with WDR41: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WDR41 Gene

Publications for WDR41 Gene

  1. Multiplex image-based autophagy RNAi screening identifies SMCR8 as ULK1 kinase activity and gene expression regulator. (PMID: 28195531) Jung J … Behrends C (eLife 2017) 3 4 58
  2. Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death. (PMID: 27103069) Sellier C … Charlet-Berguerand N (The EMBO journal 2016) 3 4 58
  3. The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway. (PMID: 27193190) Sullivan PM … Hu F (Acta neuropathologica communications 2016) 3 4 58
  4. Discovery and replication of dopamine-related gene effects on caudate volume in young and elderly populations (N=1198) using genome-wide search. (PMID: 21502949) Stein JL … Alzheimer’s Disease Neuroimaging Initiative Investigators (Molecular psychiatry 2011) 3 44 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for WDR41 Gene

  • Addgene plasmids for WDR41

Sources for WDR41 Gene

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