SEM1 (SEM1 26S proteasome subunit)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7979
Gene name Gene Name - the full gene name approved by the HGNC.
SEM1 26S proteasome subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SEM1
Synonyms (NCBI Gene) Gene synonyms aliases
C7orf76, DSS1, ECD, PSMD15, SHFD1, SHFM1, SHSF1, Shfdg1
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
601285 10845 ENSG00000127922
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID 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 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (5)
Unknown
Disease term Disease name Evidence References Source
Attention Deficit Hyperactivity Disorder Attention Deficit Hyperactivity Disorder GWAS
Osteoporosis Osteoporosis GWAS
Glioblastoma Glioblastoma CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 GWAS, CBGDA
Oligodendroglioma Oligodendroglioma GWAS
Show/Hide Text Mining Associations (15)
Associations from Text Mining
Disease Name Relationship Type References
AA amyloidosis Associate 26256479
Breast Neoplasms Stimulate 34031538
Carcinoma Squamous Cell Associate 20220765
Chromosome Disorders Associate 19223930
Ectrodactyly Associate 10851255, 19223930, 25231166, 27291887, 7912888, 8782053
Hereditary leiomyomatosis and renal cell cancer Associate 28505189
Infections Associate 26256479
Intellectual Disability Associate 8782053
Neoplasms Associate 20020775, 23371468, 27694622, 33978741
Neoplasms Inhibit 26145171