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Aliases for LRWD1 Gene

Aliases for LRWD1 Gene

  • Leucine Rich Repeats And WD Repeat Domain Containing 1 2 3 5
  • Centromere Protein 33 2 3 4
  • Origin Recognition Complex-Associated Protein 3 4
  • ORC-Associated Protein 3 4
  • CENP-33 3 4
  • ORCA 3 4
  • Leucine-Rich Repeat And WD Repeat-Containing Protein 1 3
  • Origin Recognition Complex Associated 2
  • Testicular Tissue Protein Li 4 3

External Ids for LRWD1 Gene

Previous GeneCards Identifiers for LRWD1 Gene

  • GC07P101893
  • GC07P102105
  • GC07P096695

Summaries for LRWD1 Gene

Entrez Gene Summary for LRWD1 Gene

  • The protein encoded by this gene interacts with components of the origin recognition complex (ORC) and regulates the formation of the prereplicative complex. The encoded protein stabilizes the ORC and therefore aids in DNA replication. This protein is required for the G1/S phase transition of the cell cycle. In addition, the encoded protein binds to trimethylated histone H3 in heterochromatin and recruits the ORC and lysine methyltransferases, which help maintain the repressive heterochromatic state. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

GeneCards Summary for LRWD1 Gene

LRWD1 (Leucine Rich Repeats And WD Repeat Domain Containing 1) is a Protein Coding gene. Diseases associated with LRWD1 include Spermatogenic Failure, X-Linked, 1. Gene Ontology (GO) annotations related to this gene include chromatin binding and methyl-CpG binding.

UniProtKB/Swiss-Prot for LRWD1 Gene

  • Required for G1/S transition. Recruits and stabilizes the origin recognition complex (ORC) onto chromatin during G1 to establish pre-replication complex (preRC) and to heterochromatic sites in post-replicated cells. Binds a combination of DNA and histone methylation repressive marks on heterochromatin. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3 in a cooperative manner with DNA methylation. Required for silencing of major satellite repeats. May be important ORC2, ORC3 and ORC4 stability.

Additional gene information for LRWD1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRWD1 Gene

Genomics for LRWD1 Gene

GeneHancer (GH) Regulatory Elements for LRWD1 Gene

Promoters and enhancers for LRWD1 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
GH07I102463 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.1 124 2.1 HDGF PKNOX1 ARID4B SIN3A ZBTB7B YY1 POLR2B ZNF766 E2F8 ZNF207 ALKBH4 GC07P102467 MIR5090 PIR43748 LRWD1 ENSG00000272949 POLR2J ORAI2 SPDYE2 RASA4DP
GH07I102419 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.5 -44.3 -44279 2.8 PKNOX1 ARNT TCF12 ZNF766 GATA2 ATF7 CAVIN1 NCOA1 ZNF592 MBD2 LOC105375433 ORAI2 ENSG00000272949 ALKBH4 LRWD1 DNAJC2 RASA4B CRYZP1 MIR548O LOC100630923
GH07I102414 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -48.0 -47956 4.4 HDGF NFIB BACH1 EBF1 BATF ZNF316 GATA3 POLR2A IKZF2 RUNX3 ORAI2 LRWD1 ALKBH4 POLR2J ENSG00000272949 PRKRIP1 LOC105375433 MIR548O LOC100630923
GH07I102412 Enhancer 0.7 ENCODE dbSUPER 12.4 -52.2 -52220 0.2 CTCF NFIC ZNF143 REST ZBTB33 RUNX3 RAD21 LRWD1 ALKBH4 LOC105375433 MIR548O LOC100630923 PRKRIP1
GH07I102393 Enhancer 0.7 ENCODE 12.3 -71.0 -71027 1.6 PKNOX1 JUN MAX ZBTB40 RFX5 GATA3 POLR2A RCOR1 FOS TCF7L2 ORAI2 SH2B2 LRWD1 ALKBH4 ENSG00000239486 MIR548O PRKRIP1 LOC100630923
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LRWD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LRWD1 gene promoter:

Genomic Locations for LRWD1 Gene

Genomic Locations for LRWD1 Gene
chr7:102,464,929-102,473,168
(GRCh38/hg38)
Size:
8,240 bases
Orientation:
Plus strand
chr7:102,105,376-102,113,615
(GRCh37/hg19)

Genomic View for LRWD1 Gene

Genes around LRWD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRWD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRWD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRWD1 Gene

Proteins for LRWD1 Gene

  • Protein details for LRWD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UFC0-LRWD1_HUMAN
    Recommended name:
    Leucine-rich repeat and WD repeat-containing protein 1
    Protein Accession:
    Q9UFC0
    Secondary Accessions:
    • A8K4K2
    • B2R9G2
    • Q8N0T9
    • Q8WV43
    • Q96GJ2

    Protein attributes for LRWD1 Gene

    Size:
    647 amino acids
    Molecular mass:
    70861 Da
    Quaternary structure:
    • Integral component of the ORC complex. Directly interacts with CDT1, GMNN and ORC2. Interacts with ORC2 only when non-ubiquitinated; this interaction prevents LRWD1 ubiquitination and degradation. Some of these interactions are regulated in a cell-cycle dependent manner. Interaction with ORC1 occurs predominantly during G1. Association with phosphorylated ORC1 during mitosis is not efficient. Interaction with CDT1 occurs during G1 phase, as well as during mitosis with phosphorylated CDT1. Interaction with GMNN occurs from G1/S to mitosis. Interaction with ORC2 is observed throughout the cell cycle. The stoichiometry of the ORCA/ORC/CDT1/GMNN complex is 1:1:1:2. Interacts with CUL4A and DDB1; this interaction may lead to ubiquitination.

neXtProt entry for LRWD1 Gene

Post-translational modifications for LRWD1 Gene

  • Ubiquitinated; undergoes Lys-48-linked polyubiquitination leading to proteasomal degradation. Ubiquitination occurs within the WD repeats at the end of the G1 phase. Ubiquitination may be catalyzed by the CUL4-DDB1 E3 ubiquitin-protein ligase complex and other E3 ligases.

No data available for DME Specific Peptides for LRWD1 Gene

Domains & Families for LRWD1 Gene

Gene Families for LRWD1 Gene

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

Suggested Antigen Peptide Sequences for LRWD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UFC0

UniProtKB/Swiss-Prot:

LRWD1_HUMAN :
  • The entire WD repeat region is required for the interaction with ORC, CDT1 and GMNN, as well as for association with chromatin and for binding to histone H3 and H4 trimethylation marks H3K9me3 and H4K20me3.
  • Belongs to the LRWD1 family.
Domain:
  • The entire WD repeat region is required for the interaction with ORC, CDT1 and GMNN, as well as for association with chromatin and for binding to histone H3 and H4 trimethylation marks H3K9me3 and H4K20me3.
Family:
  • Belongs to the LRWD1 family.
genes like me logo Genes that share domains with LRWD1: view

Function for LRWD1 Gene

Molecular function for LRWD1 Gene

UniProtKB/Swiss-Prot Function:
Required for G1/S transition. Recruits and stabilizes the origin recognition complex (ORC) onto chromatin during G1 to establish pre-replication complex (preRC) and to heterochromatic sites in post-replicated cells. Binds a combination of DNA and histone methylation repressive marks on heterochromatin. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3 in a cooperative manner with DNA methylation. Required for silencing of major satellite repeats. May be important ORC2, ORC3 and ORC4 stability.

Gene Ontology (GO) - Molecular Function for LRWD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA 20932478
GO:0005515 protein binding IPI 20932478
GO:0008327 methyl-CpG binding IDA 21029866
GO:0035064 methylated histone binding IDA 21029866
genes like me logo Genes that share ontologies with LRWD1: view
genes like me logo Genes that share phenotypes with LRWD1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LRWD1 Gene

Localization for LRWD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRWD1 Gene

Nucleus. Chromosome, centromere. Chromosome, telomere. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Chromosome, centromere, kinetochore. Note=Localizes to heterochromatin during G1 phase. Restricted to centromeres or telomeres as cells progress though S phase. When cells enter mitosis, relocalizes to centromeres. Recruitment to pericentric heterochromatin largely depends on the presence of H3K9me3.

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 LRWD1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 3
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleus (3)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LRWD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IEA,IDA 20813266
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000781 chromosome, telomeric region IEA --
GO:0005634 nucleus IEA,IDA 21029866
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with LRWD1: view

Pathways & Interactions for LRWD1 Gene

SuperPathways for LRWD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRWD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication IEA --
GO:0006270 DNA replication initiation TAS 20932478
GO:0006325 chromatin organization IMP 20932478
GO:0016569 covalent chromatin modification IEA --
GO:0071169 establishment of protein localization to chromatin IDA 20932478
genes like me logo Genes that share ontologies with LRWD1: view

No data available for Pathways by source and SIGNOR curated interactions for LRWD1 Gene

Drugs & Compounds for LRWD1 Gene

No Compound Related Data Available

Transcripts for LRWD1 Gene

Unigene Clusters for LRWD1 Gene

Leucine-rich repeats and WD repeat domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRWD1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c
SP1: - - - - -
SP2: - -
SP3:
SP4: -
SP5:
SP6: - - - - -
SP7:
SP8: -

Relevant External Links for LRWD1 Gene

GeneLoc Exon Structure for
LRWD1
ECgene alternative splicing isoforms for
LRWD1

Expression for LRWD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LRWD1 Gene

mRNA differential expression in normal tissues according to GTEx for LRWD1 Gene

This gene is overexpressed in Testis (x16.1).

Protein differential expression in normal tissues from HIPED for LRWD1 Gene

This gene is overexpressed in Testis (25.9), Urine (15.2), and Breast (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LRWD1 Gene



Protein tissue co-expression partners for LRWD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LRWD1 Gene:

LRWD1

SOURCE GeneReport for Unigene cluster for LRWD1 Gene:

Hs.274135

mRNA Expression by UniProt/SwissProt for LRWD1 Gene:

Q9UFC0-LRWD1_HUMAN
Tissue specificity: Testis-specific. Drastically down-regulated in testis from patients with Sertoli cell-only syndrome (SCOS).

Evidence on tissue expression from TISSUES for LRWD1 Gene

  • Nervous system(4.8)
  • Eye(4.2)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with LRWD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for LRWD1 Gene

Orthologs for LRWD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LRWD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRWD1 34 33
  • 99.33 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LRWD1 33 34
  • 87.32 (n)
cow
(Bos Taurus)
Mammalia LRWD1 33
  • 84.69 (n)
DKFZP434K1815 34
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrwd1 33 16 34
  • 80.59 (n)
oppossum
(Monodelphis domestica)
Mammalia LRWD1 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRWD1 34 33
  • 55.24 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrwd1 33
  • 51.53 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.31991 33
zebrafish
(Danio rerio)
Actinopterygii lrwd1 33 34
  • 49.61 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
OneToOne
Species where no ortholog for LRWD1 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LRWD1 Gene

ENSEMBL:
Gene Tree for LRWD1 (if available)
TreeFam:
Gene Tree for LRWD1 (if available)

Paralogs for LRWD1 Gene

No data available for Paralogs for LRWD1 Gene

Variants for LRWD1 Gene

Sequence variations from dbSNP and Humsavar for LRWD1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000046552 -- 102,463,744(+) T/C upstream_transcript_variant
rs1000182471 -- 102,469,169(+) C/T intron_variant
rs1000515753 -- 102,468,149(+) G/A coding_sequence_variant, missense_variant
rs1000594052 -- 102,468,009(+) G/A intron_variant
rs1000654546 -- 102,473,124(+) G/A/T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for LRWD1 Gene

Variant ID Type Subtype PubMed ID
nsv831083 CNV loss 17160897
nsv8192 CNV gain 18304495
nsv608003 CNV gain 21841781
nsv607999 CNV loss 21841781
nsv607998 CNV gain+loss 21841781
nsv5879 CNV deletion 18451855
nsv482111 CNV gain 20164927
nsv471450 CNV gain 19718026
nsv464665 CNV loss 19166990
nsv464664 CNV gain 19166990
nsv428182 CNV gain 18775914
esv3104463 CNV deletion 24192839
esv27624 CNV gain+loss 19812545
dgv6538n100 CNV gain 25217958
dgv11540n54 CNV loss 21841781

Variation tolerance for LRWD1 Gene

Residual Variation Intolerance Score: 49.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.09; 61.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRWD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRWD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRWD1 Gene

Disorders for LRWD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LRWD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spermatogenic failure, x-linked, 1
  • spgfx1
- elite association - COSMIC cancer census association via MalaCards
Search LRWD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LRWD1

genes like me logo Genes that share disorders with LRWD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LRWD1 Gene

Publications for LRWD1 Gene

  1. Quantitative interaction proteomics and genome-wide profiling of epigenetic histone marks and their readers. (PMID: 20850016) Vermeulen M … Mann M (Cell 2010) 2 3 4 58
  2. A WD-repeat protein stabilizes ORC binding to chromatin. (PMID: 20932478) Shen Z … Prasanth SG (Molecular cell 2010) 2 3 4 58
  3. Leucine-rich repeat and WD repeat-containing protein 1 is recruited to pericentric heterochromatin by trimethylated lysine 9 of histone H3 and maintains heterochromatin silencing. (PMID: 22427655) Chan KM … Zhang Z (The Journal of biological chemistry 2012) 3 4 58
  4. Dynamic association of ORCA with prereplicative complex components regulates DNA replication initiation. (PMID: 22645314) Shen Z … Prasanth SG (Molecular and cellular biology 2012) 3 4 58
  5. Orc2 protects ORCA from ubiquitin-mediated degradation. (PMID: 22935713) Shen Z … Prasanth SG (Cell cycle (Georgetown, Tex.) 2012) 3 4 58

Products for LRWD1 Gene

Sources for LRWD1 Gene

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