• Gene id: 7979

Gene Summary

• Gene Symbol: SEM1   Gene   UCSC   Ensembl
• Aliases: C7orf76, DSS1, ECD, SHFD1, SHFM1, SHSF1, Shfdg1
• Gene name: SEM1 26S proteasome complex subunit
• Alternate names: 26S proteasome complex subunit SEM1, 26S proteasome complex subunit DSS1, deleted in split hand/split foot protein 1, deleted in split-hand/split-foot 1, split hand/foot deleted protein 1, split hand/foot malformation (ectrodactyly) type 1, split hand/foot malf,
• Gene location: 7q21.3 (31937006: 32001039)     Exons: 16     NC_000017.11
• Gene summary(Entrez): 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/
• OMIM: 601285

Protein Summary

• Protein general information: P60896  
  • Name: 26S proteasome complex subunit SEM1 (26S proteasome complex subunit DSS1) (Deleted in split hand/split foot protein 1) (Split hand/foot deleted protein 1) (Split hand/foot malformation type 1 protein)
  • Length: 70  
  • Mass: 8278
  • Tissue specificity: Expressed in limb bud, craniofacial primordia and skin.
• Sequence:

  MSEKKQPVDLGLLEEDDEFEEFPAEDWAGLDEDEDAHVWEDNWDDDNVEDDFSNQLRAELEKHGYKMETS

• Structural information:
  • Interpro: IPR007834  
  • PDB: 1IYJ 1MIU 1MJE 3T5X 5GJQ 5GJR 5L4K 5LN3 5M32 5T0C 5T0G 5T0H 5T0I 5T0J 5VFR 5VFT 5VGZ 5VHF 5VHH 5VHI 5VHS 6MSB 6MSD 6MSG 6MSH 6MSJ 6MSK
  • PDBsum: 1IYJ 1MIU 1MJE 3T5X 5GJQ 5GJR 5L4K 5LN3 5M32 5T0C 5T0G 5T0H 5T0I 5T0J 5VFR 5VFT 5VGZ 5VHF 5VHH 5VHI 5VHS 6MSB 6MSD 6MSG 6MSH 6MSJ 6MSK
  • DIP: 31023
• Other Databases: GeneCards:  SEM1  Malacards:  SEM1

Gene ontology

GO accession	Term name	Evidence code	Go category

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa05169	Epstein-Barr virus infection
hsa05017	Spinocerebellar ataxia
hsa03050	Proteasome
hsa03440	Homologous recombination

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881