Sem1 SEM1, 26S proteasome complex subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sem1provided by MGI
Official Full Name: SEM1, 26S proteasome complex subunitprovided by MGI
Primary source: MGI:MGI:109238
See related: Ensembl:ENSMUSG00000042541 AllianceGenome:MGI:109238
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: DSS1; Shfg; Shfm1; Shfdg1
Summary: Acts upstream of or within double-strand break repair via homologous recombination. Predicted to be part of integrator complex and proteasome complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Orthologous to human SEM1 (SEM1 26S proteasome subunit). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in CNS E11.5 (RPKM 292.2), placenta adult (RPKM 118.3) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 A1; 6 2.59 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (6558275..6578658, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (6558275..6578658, complement)

Chromosome 6 - NC_000072.7 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
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?

expression in keratinocyte progenitor cells, with possible involvement in early skin tumorigenesis
Title: Identification of Dss1 as a 12-O-tetradecanoylphorbol-13-acetate-responsive gene expressed in keratinocyte progenitor cells, with possible involvement in early skin tumorigenesis.
3.1 angstrom crystal structure of approximately 90-kilodalton BRCA2 domain bound to DSS1, which reveals three oligonucleotide-binding (OB) folds and a helix-turn-helix (HTH) motif
Title: BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (1)
Gene trapped (1)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Shfdg1 (e-PCR), detects polymorphism
- UniSTS:144401

Shfm1 (e-PCR), detects polymorphism
- UniSTS:507222

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA export from nucleus	IEA Inferred from Electronic Annotation more info
involved_in proteasome assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of integrator complex	IEA Inferred from Electronic Annotation more info
part_of integrator complex	ISO Inferred from Sequence Orthology more info
part_of proteasome complex	IBA Inferred from Biological aspect of Ancestor more info
part_of proteasome complex	ISO Inferred from Sequence Orthology more info
part_of proteasome complex	ISS Inferred from Sequence or Structural Similarity more info
part_of proteasome regulatory particle, lid subcomplex	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: 26S proteasome complex subunit SEM1

Names: 26S proteasome complex subunit DSS1; deleted in split hand/split foot protein 1 homolog; split hand/foot deleted gene 1; split hand/foot deleted protein 1 homolog; split hand/foot malformation (ectrodactyly) type 1; split hand/foot malformation type 1 protein 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_009169.2 → NP_033195.1 26S proteasome complex subunit SEM1

Status: VALIDATED

Source sequence(s)

AC124582, AK160432

Consensus CDS

CCDS39422.1

UniProtKB/Swiss-Prot

P60897

UniProtKB/TrEMBL

Q3TV35

Related

ENSMUSP00000040741.9, ENSMUST00000041111.10

Conserved Domains (1) summary

pfam05160
Location:23 → 62

DSS1_SEM1; DSS1/SEM1 family