Basic Information

Symbol
SEM1
RNA class
mRNA
Alias
SEM1 26S Proteasome Subunit DSS1 C7orf76 Shfdg1 PSMD15 SHSF1 SHFM1 ECD Split Hand/Foot Malformation (Ectrodactyly) Type 1 Split Hand/Foot Malformation Type 1 Protein Deleted In Split Hand/Split Foot Protein 1 26S Proteasome Complex Subunit SEM1 26S Proteasome Complex Subunit DSS1 Split Hand/Foot Deleted Protein 1 FLJ42280 SHFD1 SEM1, 26S Proteasome Complex Subunit SEM1 26S Proteasome Complex Subunit Chromosome 7 Open Reading Frame 76 Deleted In Split-Hand/Split-Foot 1 Putative Protein SEM1, Isoform 2 Deleted In Split-Hand/Foot 1 SHFDG1
Location (GRCh38)
7:96481626-96709891
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Cause of death analysis
External database
HGNC NCBI Ensembl OMIM UniProt UniProt GTEx

MANE select

Transcript ID
NM_006304.2
Sequence length
458.0 nt
GC content
0.4192

Transcripts

ID Sequence Length GC content
NM_001393898.1 NCBI
AGUGACGGUGGCGUUUCCUUGAGGAAGAGUGAGGGUUCCAACUUUUCUG… 1449 nt 0.4141
NM_001393899.1 NCBI
AGUGACGGUGGCGUUUCCUUGAGGAAGAGUGAGGGUUCCAACUUUUCUG… 545 nt 0.4661
NM_001393900.1 NCBI
AGUGACGGUGGCGUUUCCUUGAGGAAGAGUGAGGGUUCCAACUUUUCUG… 1692 nt 0.4090
NM_001393901.1 NCBI
AGUGACGGUGGCGUUUCCUUGAGGAAGAGUGAGGGUUCCAACUUUUCUG… 1307 nt 0.4086
NM_001393902.1 NCBI
AGUGACGGUGGCGUUUCCUUGAGGAAGAGUGAGGGUUCCAACUUUUCUG… 1240 nt 0.4040
NM_001393903.1 NCBI
AGUGACGGUGGCGUUUCCUUGAGGAAGAGUGAGGGUUCCAACUUUUCUG… 549 nt 0.4663
NM_001393905.1 NCBI
AGUGACGGUGGCGUUUCCUUGAGGAAGAGUGAGGGUUCCAACUUUUCUG… 1484 nt 0.4030
NM_001393906.1 NCBI
AGUGACGGUGGCGUUUCCUUGAGGAAGAGUGAGGGUUCCAACUUUUCUG… 364 nt 0.4148
NM_006304.2 NCBI
AGUGACGGUGGCGUUUCCUUGAGGAAGAGUGAGGGUUCCAACUUUUCUG… 458 nt 0.4192
Summary

The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]

Forensic Context

A study in humans demonstrated that the SEM1 was differentially expressed as part of non-canonical NF-kB signalling mediated by Dectin-1 in the heart and colon of patients who succumbed to septic shock, as identified through RNA sequencing of post-mortem tissue samples [Pinheiro da Silva et al. DOI:10.1111/jcmm.17938].