SEM1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SEM1 (HGNC:10845) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
SEM1 26S proteasome subunit
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SHFD1, SHFM1, C7orf76
Alias symbols
DSS1, Shfdg1, ECD, SHSF1, FLJ42280, PSMD15
%HI
7.71(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.77(Read more about gnomAD pLI score)
LOEUF
0.75(Read more about gnomAD LOEUF score)
Cytoband
7q21.3
Genomic Coordinates
GRCh37/hg19: chr7:96110938-96339158 NCBI Ensembl UCSC
GRCh38/hg38: chr7:96481626-96709846 NCBI Ensembl UCSC
MANE Select Transcript
NM_006304.2 ENST00000248566.4 (Read more about MANE Select)
Function
Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair (PubMed:15117943). ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-11685
ClinGen Curation ID:
CCID:007820
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Related Links:
Last Evaluated:
05/14/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • split hand-foot malformation 1 with sensorineural hearing loss Monarch
HI Evidence Comments:
Non-focal heterozygous deletions and chromosomal rearrangements involving 7q21 have been reported in patients with Split-hand/foot malformation 1 (SHFM1). As all reported deletions involving the gene SHFM1 (formerly DSS1) include additional genes, the potential haploinsufficiency for SHFM1 alone is not known. The minimal deleted region in SHFM1 also includes the genes DLX 5 and DLX6, whose concomitant haploinsufficiency is currently favored as the pathogenic mechanism for SHFM1 [see PMIDs 22342398 and 19401716 and OMIM for reviews of the literature].

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)