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Aliases for SPIDR Gene

Aliases for SPIDR Gene

  • Scaffolding Protein Involved In DNA Repair 2 3 4 5
  • KIAA0146 2 3 4

External Ids for SPIDR Gene

Previous HGNC Symbols for SPIDR Gene

  • KIAA0146

Previous GeneCards Identifiers for SPIDR Gene

  • GC08P048174

Summaries for SPIDR Gene

GeneCards Summary for SPIDR Gene

SPIDR (Scaffolding Protein Involved In DNA Repair) is a Protein Coding gene. Among its related pathways are DNA Double-Strand Break Repair and Homologous DNA Pairing and Strand Exchange.

UniProtKB/Swiss-Prot for SPIDR Gene

  • Plays a role in DNA double-strand break (DBS) repair via homologous recombination (HR). Serves as a scaffolding protein that helps to promote the recruitment of DNA-processing enzymes like the helicase BLM and recombinase RAD51 to site of DNA damage, and hence contributes to maintain genomic integrity.

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

Genomics for SPIDR Gene

Regulatory Elements for SPIDR Gene

Enhancers for SPIDR Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SPIDR on UCSC Golden Path with GeneCards custom track

Promoters for SPIDR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SPIDR on UCSC Golden Path with GeneCards custom track

Genomic Location for SPIDR Gene

Chromosome:
8
Start:
47,260,575 bp from pter
End:
47,736,306 bp from pter
Size:
475,732 bases
Orientation:
Plus strand

Genomic View for SPIDR Gene

Genes around SPIDR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SPIDR Gene

Proteins for SPIDR Gene

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

    Protein Symbol:
    Q14159-SPIDR_HUMAN
    Recommended name:
    DNA repair-scaffolding protein
    Protein Accession:
    Q14159
    Secondary Accessions:
    • B4DFV2
    • B4E0Y6
    • Q96BI5

    Protein attributes for SPIDR Gene

    Size:
    915 amino acids
    Molecular mass:
    100316 Da
    Quaternary structure:
    • Found in a complex, at least composed of BLM, RAD51 and SPIDR; the complex formation is mediated by SPIDR. Interacts (via C-terminal region) with BLM; the interaction is direct. Interacts with RAD51; the interaction is direct. Interacts (via the C-terminal region) with FIGNL1 (via N-terminal one-half region); the interaction is direct.
    SequenceCaution:
    • Sequence=BAA09767.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SPIDR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPIDR Gene

Proteomics data for SPIDR Gene at MOPED

Post-translational modifications for SPIDR Gene

  • Ubiquitination at Lys 346
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SPIDR Gene

Domains & Families for SPIDR Gene

Protein Domains for SPIDR Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and UniProtKB/Swiss-Prot for SPIDR Gene

Function for SPIDR Gene

Molecular function for SPIDR Gene

UniProtKB/Swiss-Prot Function:
Plays a role in DNA double-strand break (DBS) repair via homologous recombination (HR). Serves as a scaffolding protein that helps to promote the recruitment of DNA-processing enzymes like the helicase BLM and recombinase RAD51 to site of DNA damage, and hence contributes to maintain genomic integrity.
UniProtKB/Swiss-Prot Induction:
Up-regulated in vascular endothelial cells treated with IL4. Up-regulated upon human SARS coronavirus infection.
genes like me logo Genes that share phenotypes with SPIDR: view

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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

Localization for SPIDR Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPIDR Gene

Nucleus. Note=Together with BLM, is redistributed in discrete nuclear DNA damage-induced foci following hydroxyurea (HU) or camptothecin (CPT) treatment.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for SPIDR Gene

Pathways & Interactions for SPIDR Gene

genes like me logo Genes that share pathways with SPIDR: view

Interacting Proteins for SPIDR Gene

Gene Ontology (GO) - Biological Process for SPIDR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IMP,TAS 23509288
GO:0006974 cellular response to DNA damage stimulus IDA 23509288
GO:0010569 regulation of double-strand break repair via homologous recombination IDA 23754376
GO:0031334 positive regulation of protein complex assembly IDA 23509288
GO:0070202 regulation of establishment of protein localization to chromosome IDA 23509288
genes like me logo Genes that share ontologies with SPIDR: view

No data available for SIGNOR curated interactions for SPIDR Gene

Drugs & Compounds for SPIDR Gene

No Compound Related Data Available

Transcripts for SPIDR Gene

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

No ASD Table

Relevant External Links for SPIDR Gene

GeneLoc Exon Structure for
SPIDR
ECgene alternative splicing isoforms for
SPIDR

Expression for SPIDR Gene

mRNA expression in normal human tissues for SPIDR Gene

Protein differential expression in normal tissues from HIPED for SPIDR Gene

This gene is overexpressed in Cervix (64.3).

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



genes like me logo Genes that share expression patterns with SPIDR: view

Protein tissue co-expression partners for SPIDR Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SPIDR Gene

Orthologs for SPIDR Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPIDR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPIDR 36
  • 99 (a)
OneToOne
SPIDR 35
  • 99.49 (n)
  • 99.34 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia SPIDR 36
  • 47 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spidr 36
  • 63 (a)
OneToOne
Spidr 16
Spidr 35
  • 75.58 (n)
  • 66.15 (a)
oppossum
(Monodelphis domestica)
Mammalia SPIDR 36
  • 47 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPIDR 36
  • 70 (a)
OneToOne
SPIDR 35
  • 80.98 (n)
  • 72.97 (a)
cow
(Bos Taurus)
Mammalia SPIDR 36
  • 64 (a)
OneToOne
SPIDR 35
  • 75.88 (n)
  • 65.93 (a)
rat
(Rattus norvegicus)
Mammalia Spidr 35
  • 75.19 (n)
  • 64.98 (a)
chicken
(Gallus gallus)
Aves SPIDR 36
  • 42 (a)
OneToOne
LOC421106 35
  • 59.95 (n)
  • 51.08 (a)
lizard
(Anolis carolinensis)
Reptilia SPIDR 36
  • 35 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spidr 35
  • 54.28 (n)
  • 44.83 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01035647.1 36
  • 32 (a)
OneToOne
LOC100535045 35
  • 49.13 (n)
  • 40.04 (a)
Species with no ortholog for SPIDR:
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SPIDR Gene

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

Paralogs for SPIDR Gene

No data available for Paralogs for SPIDR Gene

Variants for SPIDR Gene

Sequence variations from dbSNP and Humsavar for SPIDR Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs2029239 -- 47,669,945(+) CAGTG(A/G)GTCGA intron-variant
rs2035796 -- 47,367,664(+) AGCCC(A/G)CATTG intron-variant
rs2054986 -- 47,289,166(-) gggca(C/T)agtgg intron-variant
rs2087493 -- 47,505,009(+) gcgga(A/G)taccc intron-variant
rs2087494 -- 47,505,170(+) acagg(G/T)acatt intron-variant

Variation tolerance for SPIDR Gene

Residual Variation Intolerance Score: 37.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.90; 59.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPIDR Gene

HapMap Linkage Disequilibrium report
SPIDR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SPIDR Gene

Disorders for SPIDR Gene

Relevant External Links for SPIDR

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPIDR

No disorders were found for SPIDR Gene.

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

Publications for SPIDR Gene

  1. Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. (PMID: 23509288) Wan L. … Huang J. (Proc. Natl. Acad. Sci. U.S.A. 2013) 2 3 4 67
  2. Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8590280) Nagase T. … Nomura N. (DNA Res. 1995) 2 3
  3. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3
  4. Instability at the FRA8I common fragile site disrupts the genomic integrity of the KIAA0146, CEBPD and PRKDC genes in colorectal cancer. (PMID: 23603433) Brueckner L.M. … Savelyeva L. (Cancer Lett. 2013) 3
  5. FIGNL1-containing protein complex is required for efficient homologous recombination repair. (PMID: 23754376) Yuan J. … Chen J. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3

Products for SPIDR Gene

Sources for SPIDR Gene

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