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Aliases for SHLD1 Gene

Aliases for SHLD1 Gene

  • Shieldin Complex Subunit 1 2 3
  • Chromosome 20 Open Reading Frame 196 2 5
  • C20orf196 3 5
  • Uncharacterized Protein C20orf196 3
  • RINN3 3

External Ids for SHLD1 Gene

Previous HGNC Symbols for SHLD1 Gene

  • C20orf196

Summaries for SHLD1 Gene

GeneCards Summary for SHLD1 Gene

SHLD1 (Shieldin Complex Subunit 1) is a Protein Coding gene.

Additional gene information for SHLD1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SHLD1 Gene

Genomics for SHLD1 Gene

GeneHancer (GH) Regulatory Elements for SHLD1 Gene

Promoters and enhancers for SHLD1 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
GH20J005749 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 659.7 +0.9 889 2.9 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A YY1 SLC30A9 ZNF766 E2F8 SHLD1 MCM8 GC20P005890
GH20J005724 Enhancer 0.9 Ensembl 13.1 -25.5 -25534 0.8 FOXA2 MLX ARID4B DMAP1 ZNF48 SLC30A9 NFKBIZ RXRA SP5 NFYC SHLD1 TRMT6 LOC105372514
GH20J005641 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.4 -99.1 -99130 18.9 HDGF PKNOX1 FOXA2 SMAD1 SIN3A YBX1 IRF4 ZNF207 FOS JUNB GPCPD1 TRMT6 MCM8 SHLD1 PROKR2 LOC105372514
GH20J005745 Enhancer 0.6 ENCODE 9.8 -3.1 -3095 3.7 ZNF740 CAVIN1 TEAD4 HLF CBFA2T3 ZNF592 NR2F2 MEF2D NR2C1 ZBTB17 SHLD1 LOC105372514
GH20J005861 Enhancer 1 Ensembl ENCODE dbSUPER 5.6 +113.8 113780 4.9 SOX13 RFX1 JUN CEBPG MNT JUND POLR2A RFX3 RCOR1 FOS CHGB RNU1-55P MCM8 TRMT6 SHLD1 GC20P005890
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SHLD1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SHLD1 Gene

Genomic Locations for SHLD1 Gene
chr20:5,750,335-5,864,407
(GRCh38/hg38)
Size:
114,073 bases
Orientation:
Plus strand
chr20:5,731,039-5,844,558
(GRCh37/hg19)
Size:
113,520 bases
Orientation:
Plus strand

Genomic View for SHLD1 Gene

Genes around SHLD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SHLD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SHLD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHLD1 Gene

Proteins for SHLD1 Gene

  • Protein details for SHLD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYI0-CT196_HUMAN
    Recommended name:
    Uncharacterized protein C20orf196
    Protein Accession:
    Q8IYI0
    Secondary Accessions:
    • A8K9J3
    • Q5TGA9
    • Q96LU1

    Protein attributes for SHLD1 Gene

    Size:
    205 amino acids
    Molecular mass:
    22938 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SHLD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SHLD1 Gene

Post-translational modifications for SHLD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SHLD1 Gene

Domains & Families for SHLD1 Gene

Gene Families for SHLD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SHLD1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SHLD1: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for SHLD1 Gene

Function for SHLD1 Gene

Phenotypes From GWAS Catalog for SHLD1 Gene

genes like me logo Genes that share phenotypes with SHLD1: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SHLD1 Gene

Localization for SHLD1 Gene

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 SHLD1 gene
Compartment Confidence
nucleus 2
endoplasmic reticulum 2
cytosol 2
golgi apparatus 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SHLD1 Gene

Pathways & Interactions for SHLD1 Gene

SuperPathways for SHLD1 Gene

No Data Available

Interacting Proteins for SHLD1 Gene

Selected Interacting proteins: Q8IYI0-CT196_HUMAN for SHLD1 Gene via IID MINT

Gene Ontology (GO) - Biological Process for SHLD1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SHLD1 Gene

Drugs & Compounds for SHLD1 Gene

No Compound Related Data Available

Transcripts for SHLD1 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SHLD1 Gene

No ASD Table

Relevant External Links for SHLD1 Gene

GeneLoc Exon Structure for
SHLD1
ECgene alternative splicing isoforms for
SHLD1

Expression for SHLD1 Gene

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SHLD1 Gene

Orthologs for SHLD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SHLD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C20H20orf196 33
  • 97.72 (n)
C20orf196 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C13H20orf196 33
  • 83.33 (n)
C20orf196 34
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C24H20orf196 33
  • 83.09 (n)
C20orf196 34
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC681292 33
  • 78.91 (n)
mouse
(Mus musculus)
Mammalia 1110034G24Rik 34 33
  • 75 (n)
OneToOne
Shld1 16
oppossum
(Monodelphis domestica)
Mammalia C20orf196 34
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves C3H20orf196 33
  • 50.17 (n)
Species where no ortholog for SHLD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • zebrafish (Danio rerio)

Evolution for SHLD1 Gene

ENSEMBL:
Gene Tree for SHLD1 (if available)
TreeFam:
Gene Tree for SHLD1 (if available)

Paralogs for SHLD1 Gene

Pseudogenes.org Pseudogenes for SHLD1 Gene

genes like me logo Genes that share paralogs with SHLD1: view

No data available for Paralogs for SHLD1 Gene

Variants for SHLD1 Gene

Sequence variations from dbSNP and Humsavar for SHLD1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000097424 -- 5,770,459(+) G/C intron_variant
rs1000103510 -- 5,790,580(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000111541 -- 5,850,122(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000116001 -- 5,797,090(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000128513 -- 5,749,928(+) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SHLD1 Gene

Variant ID Type Subtype PubMed ID
dgv4242n100 CNV gain 25217958
dgv7449n54 CNV gain 21841781
dgv777e199 CNV deletion 23128226
esv27527 CNV loss 19812545
esv3368495 CNV insertion 20981092
esv34186 CNV loss 18971310
esv3645108 CNV loss 21293372
esv3645109 CNV gain 21293372
esv3645111 CNV loss 21293372
esv3893277 CNV gain 25118596
nsv1059145 CNV loss 25217958
nsv3270 CNV insertion 18451855
nsv3271 CNV insertion 18451855
nsv470539 CNV gain 18288195
nsv481615 CNV novel sequence insertion 20440878
nsv523886 CNV loss 19592680
nsv585331 CNV loss 21841781
nsv585332 CNV loss 21841781
nsv833905 CNV gain 17160897

Variation tolerance for SHLD1 Gene

Residual Variation Intolerance Score: 63.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.45; 43.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SHLD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SHLD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SHLD1 Gene

Disorders for SHLD1 Gene

Additional Disease Information for SHLD1

No disorders were found for SHLD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SHLD1 Gene

Publications for SHLD1 Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  2. DNA Repair Network Analysis Reveals Shieldin as a Key Regulator of NHEJ and PARP Inhibitor Sensitivity. (PMID: 29656893) Gupta R … Choudhary C (Cell 2018) 3 58
  3. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M … Stelzl U (Nature methods 2013) 3 58
  4. Whole genome association scan for genetic polymorphisms influencing information processing speed. (PMID: 21130836) Luciano M … Deary IJ (Biological psychology 2011) 3 58
  5. Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PMID: 20360068) Hutchins JR … Peters JM (Science (New York, N.Y.) 2010) 3 58

Products for SHLD1 Gene

Sources for SHLD1 Gene

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