SEM1 (SEM1 26S proteasome subunit)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 7979
• Gene name: SEM1 26S proteasome subunit
• Gene symbol: SEM1
• Synonyms (NCBI Gene): C7orf76, DSS1, ECD, PSMD15, SHFD1, SHFM1, SHSF1, Shfdg1
• 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 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
MIRT450566	hsa-miR-548am-5p	PAR-CLIP	22100165
MIRT450565	hsa-miR-548ap-5p	PAR-CLIP	22100165
MIRT450564	hsa-miR-548aq-5p	PAR-CLIP	22100165
MIRT450563	hsa-miR-548ar-5p	PAR-CLIP	22100165
MIRT450562	hsa-miR-548as-5p	PAR-CLIP	22100165
MIRT450561	hsa-miR-548au-5p	PAR-CLIP	22100165
MIRT450560	hsa-miR-548ay-5p	PAR-CLIP	22100165
MIRT450559	hsa-miR-548b-5p	PAR-CLIP	22100165
MIRT450558	hsa-miR-548bb-5p	PAR-CLIP	22100165
MIRT450557	hsa-miR-548c-5p	PAR-CLIP	22100165
MIRT450556	hsa-miR-548d-5p	PAR-CLIP	22100165
MIRT450555	hsa-miR-548h-5p	PAR-CLIP	22100165
MIRT450554	hsa-miR-548i	PAR-CLIP	22100165
MIRT450553	hsa-miR-548j-5p	PAR-CLIP	22100165
MIRT450552	hsa-miR-548o-5p	PAR-CLIP	22100165
MIRT450551	hsa-miR-548w	PAR-CLIP	22100165
MIRT450550	hsa-miR-548y	PAR-CLIP	22100165
MIRT450549	hsa-miR-559	PAR-CLIP	22100165
MIRT450548	hsa-miR-548av-5p	PAR-CLIP	22100165
MIRT450547	hsa-miR-548k	PAR-CLIP	22100165
MIRT450545	hsa-miR-8054	PAR-CLIP	22100165
MIRT450546	hsa-miR-548l	PAR-CLIP	22100165
MIRT450544	hsa-miR-142-5p	PAR-CLIP	22100165
MIRT450543	hsa-miR-5590-3p	PAR-CLIP	22100165
MIRT450542	hsa-miR-1225-3p	PAR-CLIP	22100165
MIRT450541	hsa-miR-1233-3p	PAR-CLIP	22100165
MIRT450540	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT450539	hsa-miR-6807-5p	PAR-CLIP	22100165
MIRT450538	hsa-miR-3161	PAR-CLIP	22100165
MIRT450537	hsa-miR-653-5p	PAR-CLIP	22100165
MIRT450536	hsa-miR-599	PAR-CLIP	22100165

Gene ontology (GO) 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
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006406	Process	MRNA export from nucleus	IEA
GO:0008541	Component	Proteasome regulatory particle, lid subcomplex	IEA
GO:0032039	Component	Integrator complex	IDA	16239144
GO:0032991	Component	Protein-containing complex	IDA	26833090
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	19489727
GO:0043248	Process	Proteasome assembly	IEA

Other IDs

• MIM: 601285
• HGNC: 10845
• e!Ensembl: ENSG00000127922

Protein

• 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:

  MSEKKQPVDLGLLEEDDEFEEFPAEDWAGLDEDEDAHVWEDNWDDDNVEDDFSNQLRAEL
  EKHGYKMETS

• 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:

  MYCQDSNICAVFAVQGGKVGRKHGIKRGRRPSIRSPAQRARGPWIHESKHPAFAKQQINL
  EMPNSRATTELAWVCSSTSRKKKWARSLTLSTAPLSPPPSLVHCEDCSCLPGCHSGDLYN
  LAPAERTC

• Sequence length: 128

Pathways

KEGG Pathway	Reactome Pathway
Proteasome	Activation of NF-kappaB in B cells
Homologous recombination	Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Alzheimer disease	Cross-presentation of soluble exogenous antigens (endosomes)
Parkinson disease	Autodegradation of Cdh1 by Cdh1:APC/C
Amyotrophic lateral sclerosis	SCF-beta-TrCP mediated degradation of Emi1
Huntington disease	APC/C:Cdc20 mediated degradation of Securin
Spinocerebellar ataxia	APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
Prion disease	Cdc20:Phospho-APC/C mediated degradation of Cyclin A
Pathways of neurodegeneration - multiple diseases	Vpu mediated degradation of CD4
Epstein-Barr virus infection	Vif-mediated degradation of APOBEC3G
	SCF(Skp2)-mediated degradation of p27/p21
	Degradation of beta-catenin by the destruction complex
	Downstream TCR signaling
	Separation of Sister Chromatids
	FCERI mediated NF-kB activation
	Autodegradation of the E3 ubiquitin ligase COP1
	Regulation of ornithine decarboxylase (ODC)
	ABC-family proteins mediated transport
	AUF1 (hnRNP D0) binds and destabilizes mRNA
	Asymmetric localization of PCP proteins
	Degradation of AXIN
	Degradation of DVL
	Hedgehog ligand biogenesis
	Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
	Dectin-1 mediated noncanonical NF-kB signaling
	CLEC7A (Dectin-1) signaling
	Degradation of GLI1 by the proteasome
	GLI3 is processed to GLI3R by the proteasome
	Hedgehog 'on' state
	Regulation of RAS by GAPs
	TNFR2 non-canonical NF-kB pathway
	NIK-->noncanonical NF-kB signaling
	Defective CFTR causes cystic fibrosis
	MAPK6/MAPK4 signaling
	UCH proteinases
	Ub-specific processing proteases
	CDT1 association with the CDC6:ORC:origin complex
	Orc1 removal from chromatin
	CDK-mediated phosphorylation and removal of Cdc6
	G2/M Checkpoints
	Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
	Ubiquitin-dependent degradation of Cyclin D
	The role of GTSE1 in G2/M progression after G2 checkpoint
	FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
	RUNX1 regulates transcription of genes involved in differentiation of HSCs
	Regulation of RUNX2 expression and activity
	Regulation of RUNX3 expression and activity
	Regulation of PTEN stability and activity
	Neddylation
	Interleukin-1 signaling
	Antigen processing: Ubiquitination & Proteasome degradation

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)

Unknown / Other Associations Show/Hide Unknown Diseases (15)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	20732625	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	37919453	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	18922899	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	30177863, 37492107	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASES	—	CTD	30177863	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA	—	GWAS catalog	29724592	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	27770636	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	GWAS catalog	34594039, 39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	22952805	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEM1-related disorder	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (48)
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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

STARD3NL 4 shared diseasesBone disease, Bone fracture, Frontotemporal dementia, Osteoporosis 4 shared evidence sourcesGWAS catalog (Bone disease), GWAS catalog (Bone fracture), GWAS catalog (Frontotemporal dementia), GWAS catalog (Osteoporosis) Related via 4 shared diseases including Bone disease, Bone fracture — evidence mostly GWAS catalog. RSPO3 3 shared diseasesBone disease, Bone fracture, Osteoporosis 3 shared evidence sourcesGWAS catalog (Bone disease), GWAS catalog (Bone fracture), GWAS catalog (Osteoporosis) Related via 3 shared diseases including Bone disease, Bone fracture — evidence mostly GWAS catalog. DDN 2 shared diseasesBone disease, Osteoporosis 2 shared evidence sourcesGWAS catalog (Bone disease), GWAS catalog (Osteoporosis) Related via 2 shared diseases including Bone disease, Osteoporosis — evidence mostly GWAS catalog. PPP6R3 2 shared diseasesBone disease, Osteoporosis 2 shared evidence sourcesGWAS catalog (Bone disease), GWAS catalog (Osteoporosis) Related via 2 shared diseases including Bone disease, Osteoporosis — evidence mostly GWAS catalog. SFRP4 4 shared diseasesBone disease, Bone fracture, Frontotemporal dementia, Osteoporosis 4 shared evidence sourcesGWAS catalog (Bone disease), GWAS catalog (Bone fracture), GWAS catalog (Frontotemporal dementia), GWAS catalog (Osteoporosis) Related via 4 shared diseases including Bone disease, Bone fracture — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
STARD3NL	4	["Bone disease","Bone fracture","Frontotemporal dementia","Osteoporosis"]	0	[]	4	["GWAS catalog (Bone disease)","GWAS catalog (Bone fracture)","GWAS catalog (Frontotemporal dementia)","GWAS catalog (Osteoporosis)"]
RSPO3	3	["Bone disease","Bone fracture","Osteoporosis"]	0	[]	3	["GWAS catalog (Bone disease)","GWAS catalog (Bone fracture)","GWAS catalog (Osteoporosis)"]
DDN	2	["Bone disease","Osteoporosis"]	0	[]	2	["GWAS catalog (Bone disease)","GWAS catalog (Osteoporosis)"]
PPP6R3	2	["Bone disease","Osteoporosis"]	0	[]	2	["GWAS catalog (Bone disease)","GWAS catalog (Osteoporosis)"]
SFRP4	4	["Bone disease","Bone fracture","Frontotemporal dementia","Osteoporosis"]	0	[]	4	["GWAS catalog (Bone disease)","GWAS catalog (Bone fracture)","GWAS catalog (Frontotemporal dementia)","GWAS catalog (Osteoporosis)"]

Diseases Linked via Similar Genes

Color vision deficiency Linked via 3 of 5 related genesSTARD3NL, RSPO3, SFRP4 Hypertension Linked via 3 of 5 related genesSTARD3NL, RSPO3, SFRP4 Dupuytren contracture Linked via 2 of 5 related genesSTARD3NL, SFRP4 Diabetes mellitus type 2 Linked via 2 of 5 related genesRSPO3, SFRP4 Androgenetic alopecia Linked via 1 of 5 related genesRSPO3

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Color vision deficiency	3	["STARD3NL","RSPO3","SFRP4"]
Hypertension	3	["STARD3NL","RSPO3","SFRP4"]
Dupuytren contracture	2	["STARD3NL","SFRP4"]
Diabetes mellitus type 2	2	["RSPO3","SFRP4"]
Androgenetic alopecia	1	["RSPO3"]