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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
  • DNA Repair-Scaffolding Protein 3

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 Resolution of D-Loop Structures.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

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

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.

Gene Ontology (GO) - Molecular Function for SPIDR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23509288
genes like me logo Genes that share ontologies with SPIDR: view
genes like me logo Genes that share phenotypes with SPIDR: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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.

Gene Ontology (GO) - Cellular Components for SPIDR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IDA 23509288
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with SPIDR: view

No data available for Subcellular locations from COMPARTMENTS for SPIDR Gene

Pathways & Interactions for SPIDR Gene

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

Interacting Proteins for SPIDR Gene

Selected Interacting proteins: Q14159-SPIDR_HUMAN for SPIDR Gene via IID

Symbol External ID(s) Details
FOXL1

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 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

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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, MaxQB, and MOPED for SPIDR Gene



Protein tissue co-expression partners for SPIDR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPIDR Gene:

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

Primer 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
cow
(Bos Taurus)
Mammalia SPIDR 34
  • 75.88 (n)
  • 65.93 (a)
SPIDR 35
  • 64 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPIDR 34
  • 80.98 (n)
  • 72.97 (a)
SPIDR 35
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spidr 34
  • 75.58 (n)
  • 66.15 (a)
Spidr 16
Spidr 35
  • 63 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SPIDR 34
  • 99.49 (n)
  • 99.34 (a)
SPIDR 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spidr 34
  • 75.19 (n)
  • 64.98 (a)
oppossum
(Monodelphis domestica)
Mammalia SPIDR 35
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPIDR 35
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC421106 34
  • 59.95 (n)
  • 51.08 (a)
SPIDR 35
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPIDR 35
  • 35 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spidr 34
  • 54.28 (n)
  • 44.83 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100535045 34
  • 49.13 (n)
  • 40.04 (a)
CABZ01035647.1 35
  • 32 (a)
OneToOne
Species where no ortholog for SPIDR 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)
  • 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
rs1038797 -- 47,443,197(-) CAGGG(A/G)TTGTT intron-variant
rs1050158 -- 47,735,639(+) TTTTT(C/T)TACAG nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1077262 -- 47,382,206(+) ACTGT(A/C)ATACA intron-variant
rs1106607 -- 47,492,781(-) GAAGC(C/G)GGCTC intron-variant
rs1352763 -- 47,383,281(-) ATTGA(A/C)ACAGA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv3821n106 CNV deletion 24896259
dgv57n47 OTHER inversion 21111241
dgv7211n100 CNV gain 25217958
dgv7212n100 CNV loss 25217958
esv1006968 OTHER inversion 20482838
esv1505928 OTHER inversion 17803354
esv2661219 CNV deletion 23128226
esv2666116 CNV deletion 23128226
esv2672453 CNV deletion 23128226
esv2673242 CNV deletion 23128226
esv2675544 CNV deletion 23128226
esv2736971 CNV deletion 23290073
esv2736972 CNV deletion 23290073
esv2759610 CNV gain 17122850
esv32677 CNV loss 17666407
esv3377211 CNV insertion 20981092
esv3396336 CNV insertion 20981092
esv3444020 OTHER inversion 20981092
esv3576568 CNV gain 25503493
esv3576569 CNV gain 25503493
esv3617091 CNV gain 21293372
esv3617092 CNV gain 21293372
esv3617093 CNV loss 21293372
esv3617094 CNV loss 21293372
esv3617095 CNV loss 21293372
esv3617096 CNV loss 21293372
esv3617097 CNV loss 21293372
esv3617099 CNV loss 21293372
esv3617102 CNV loss 21293372
nsv1022487 CNV gain 25217958
nsv1028036 CNV gain 25217958
nsv1075551 CNV deletion 25765185
nsv1109968 CNV deletion 24896259
nsv1126854 CNV deletion 24896259
nsv470211 CNV loss 18288195
nsv507461 OTHER sequence alteration 20534489
nsv510145 OTHER sequence alteration 20534489
nsv513683 OTHER inversion 21212237
nsv525063 CNV loss 19592680
nsv7416 OTHER inversion 18451855
nsv971306 CNV duplication 23825009
nsv971650 CNV duplication 23825009

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

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 65
  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 4 65
  3. 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 4 65
  4. Comparative host gene transcription by microarray analysis early after infection of the Huh7 cell line by severe acute respiratory syndrome coronavirus and human coronavirus 229E. (PMID: 15858003) Tang B.S.F. … Yuen K.-Y. (J. Virol. 2005) 3 4 65
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65

Products for SPIDR Gene

Sources for SPIDR Gene

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