Shoc1 shortage in chiasmata 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Shoc1provided by MGI
Official Full Name: shortage in chiasmata 1provided by MGI
Primary source: MGI:MGI:2140313
See related: Ensembl:ENSMUSG00000038598 AllianceGenome:MGI:2140313
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: Gm426; Mzip2
Summary: Predicted to enable ATP hydrolysis activity and single-stranded DNA binding activity. Involved in resolution of meiotic recombination intermediates and synaptonemal complex assembly. Located in condensed nuclear chromosome. Human ortholog(s) of this gene implicated in spermatogenic failure 75. Orthologous to human SHOC1 (shortage in chiasmata 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 4 B3; 4 32.36 cM

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (59041984..59138983, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (59041984..59138983, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

Bi-allelic variants in SHOC1 cause non-obstructive azoospermia with meiosis arrest in humans and mice.
Title: Bi-allelic variants in SHOC1 cause non-obstructive azoospermia with meiosis arrest in humans and mice.
Analysis of SHOC1-deficient mice and the selective localization of SHOC1 to a subset of recombination sites show that SHOC1 acts at key mid-stage steps of the genetic crossovers (COs) ormation process.
Title: SHOC1 is a ERCC4-(HhH)2-like protein, integral to the formation of crossover recombination intermediates during mammalian meiosis.

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Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU017639 (e-PCR)
- UniSTS:207621

AI481877 (e-PCR)
- UniSTS:159246

NoName (e-PCR)
- UniSTS:234931

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables ATP hydrolysis activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables single-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables single-stranded DNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in reciprocal meiotic recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in resolution of meiotic recombination intermediates	IBA Inferred from Biological aspect of Ancestor more info
involved_in resolution of meiotic recombination intermediates	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptonemal complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in condensed nuclear chromosome	IBA Inferred from Biological aspect of Ancestor more info
located_in condensed nuclear chromosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein shortage in chiasmata 1 ortholog

Names: likely orthologue of H. sapiens chromosome 9 open reading frame 84; protein ZIP2 homolog

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_001370843.1 → NP_001357772.1 protein shortage in chiasmata 1 ortholog

Status: VALIDATED

Source sequence(s)

AL805972, AL808112, BX001048

Consensus CDS

CCDS89749.1

UniProtKB/Swiss-Prot

A2ALV5

Related

ENSMUSP00000103171.2, ENSMUST00000107547.2

Conserved Domains (1) summary

pfam17825
Location:66 → 1481

DUF5587; Family of unknown function (DUF5587)