SEM1 (SEM1 26S proteasome subunit)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 7979
Gene name SEM1 26S proteasome subunit
Gene symbol SEM1
Synonyms (NCBI Gene)
C7orf76DSS1ECDPSMD15SHFD1SHFM1SHSF1Shfdg1
Chromosome 7
Chromosome location 7q21.3
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/
miRNA miRNA information provided by mirtarbase database.
36
Gene SNPs Other IDs Associated diseases
Show/Hide all (36)
miRTarBase ID miRNA Experiments Reference
MIRT450571 hsa-miR-548a-5p PAR-CLIP 22100165
MIRT450570 hsa-miR-548ab PAR-CLIP 22100165
MIRT450569 hsa-miR-548ad-5p PAR-CLIP 22100165
MIRT450568 hsa-miR-548ae-5p PAR-CLIP 22100165
MIRT450567 hsa-miR-548ak PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene SNPs Other IDs Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0000502 Component Proteasome complex IDA 15117943, 17323924
GO:0000502 Component Proteasome complex IEA
GO:0000502 Component Proteasome complex NAS 29636472
GO:0000724 Process Double-strand break repair via homologous recombination IEA
GO:0005515 Function Protein binding IPI 10373512, 16205630, 16239144, 21719596, 22293751, 22343721, 24013206, 25416956, 26833090, 32296183, 32814053, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
601285 10845 ENSG00000127922
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P60896
Protein 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)
Protein 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
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 , 6WJD , 6WJN , 7QXN , 7QXP , 7QXU , 7QXW , 7QXX , 7QY7 , 7QYA , 7QYB , 7W37 , 7W38 , 7W39 , 7W3A , 7W3B , 7W3C , 7W3F , 7W3G , 7W3H , 7W3I , 7W3J , 7W3K , 7W3M , 8CVT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05160 DSS1_SEM1 5 → 62 DSS1/SEM1 family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in limb bud, craniofacial primordia and skin.
Sequence
Sequence length 70
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZVN7
Protein name Putative protein SEM1, isoform 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17697 DUF5543 1 → 128 Family
Sequence
Sequence length 128
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Gene SNPs Other IDs Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (15)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE FRACTURE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (48)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aniridia Aniridia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism LHGDN 17406092
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 10373512, 17563742, 24289229
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 34031538 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 20220765 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 23371468
★★★★★
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 23024267
★★★★★
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 23024267
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital chromosomal disease Congenital Chromosomal Disease BEFREE 7912888
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital Foot Deformity Congenital deformity of foot BEFREE 11168022, 23169702, 8733122
★★★★★
★☆☆☆☆
Found in Text Mining only