Spidr scaffolding protein involved in DNA repair [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Spidrprovided by MGI
Official Full Name: scaffolding protein involved in DNA repairprovided by MGI
Primary source: MGI:MGI:1924834
See related: Ensembl:ENSMUSG00000041974 AllianceGenome:MGI:1924834
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Kiaa0146; 2310008H04Rik
Summary: Predicted to be involved in several processes, including cellular response to camptothecin; cellular response to hydroxyurea; and regulation of double-strand break repair. Predicted to be active in nuclear chromosome and nucleoplasm. Human ortholog(s) of this gene implicated in 46 XX gonadal dysgenesis. Orthologous to human SPIDR (scaffold protein involved in DNA repair). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 4.4), limb E14.5 (RPKM 3.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 A2; 16 10.09 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (15707088..15964715, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (15889224..16146851, complement)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Distinct pathways of homologous recombination controlled by the SWS1-SWSAP1-SPIDR complex.
Title: Distinct pathways of homologous recombination controlled by the SWS1-SWSAP1-SPIDR complex.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16Mit34 (e-PCR), detects polymorphism
- UniSTS:127870

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in DNA damage response	ISO Inferred from Sequence Orthology more info
involved_in DNA damage response	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to camptothecin	ISO Inferred from Sequence Orthology more info
involved_in cellular response to camptothecin	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to hydroxyurea	ISO Inferred from Sequence Orthology more info
involved_in cellular response to hydroxyurea	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to ionizing radiation	ISO Inferred from Sequence Orthology more info
involved_in cellular response to ionizing radiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via homologous recombination	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of double-strand break repair	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of double-strand break repair	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein-containing complex assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in regulation of double-strand break repair via homologous recombination	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of establishment of protein localization to chromosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of establishment of protein localization to chromosome	ISO Inferred from Sequence Orthology more info
involved_in regulation of establishment of protein localization to chromosome	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in nuclear chromosome	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear chromosome	ISO Inferred from Sequence Orthology more info
located_in nuclear chromosome	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: DNA repair-scaffolding protein

Names: scaffolding protein involved i DNA repair

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001355731.1 → NP_001342660.1 DNA repair-scaffolding protein isoform 2

Status: VALIDATED

Source sequence(s)

AC113329, AC154586

UniProtKB/TrEMBL

Q3TLL0

Conserved Domains (2) summary

pfam14950
Location:1 → 58

DUF4502; Domain of unknown function (DUF4502)

pfam14951
Location:208 → 588

DUF4503; Domain of unknown function (DUF4503)
NM_146068.4 → NP_666180.2 DNA repair-scaffolding protein isoform 1

See identical proteins and their annotated locations for NP_666180.2

Status: VALIDATED

Source sequence(s)

AK044836, AK146053, BC089026

Consensus CDS

CCDS27980.1

UniProtKB/Swiss-Prot

Q3TCD0, Q5U457, Q6A0B6, Q6IS60, Q811E1, Q8BGX7, Q8BWD6, Q8R305

Related

ENSMUSP00000038820.8, ENSMUST00000040248.9

Conserved Domains (2) summary

pfam14950
Location:11 → 390

DUF4502; Domain of unknown function (DUF4502)

pfam14951
Location:540 → 920

DUF4503; Domain of unknown function (DUF4503)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000082.7 Reference GRCm39 C57BL/6J

Range

15707088..15964715 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030249064.1 → XP_030104924.1 DNA repair-scaffolding protein isoform X2

Conserved Domains (1) summary

pfam14951
Location:1 → 376

DUF4503; Domain of unknown function (DUF4503)
XM_017316946.3 → XP_017172435.1 DNA repair-scaffolding protein isoform X1

UniProtKB/TrEMBL

Q3TLL0

Conserved Domains (2) summary

pfam14950
Location:1 → 81

DUF4502; Domain of unknown function (DUF4502)

pfam14951
Location:231 → 611

DUF4503; Domain of unknown function (DUF4503)