Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways 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/

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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

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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

MIM	HGNC	e!Ensembl
601285	10845	ENSG00000127922

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

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

Interactions

View interactions

	KEGG		Reactome
	Proteasome Homologous recombination Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Spinocerebellar ataxia Prion disease Pathways of neurodegeneration - multiple diseases Epstein-Barr virus infection		Activation of NF-kappaB in B cells Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha Cross-presentation of soluble exogenous antigens (endosomes) Autodegradation of Cdh1 by Cdh1:APC/C SCF-beta-TrCP mediated degradation of Emi1 APC/C:Cdc20 mediated degradation of Securin APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1 Cdc20:Phospho-APC/C mediated degradation of Cyclin A Vpu mediated degradation of CD4 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

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
SEM1-related disorder	Uncertain significance	rs752460892	RCV003419180

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Ovarian Neoplasms	Associate	23371468
Prostatic Neoplasms	Associate	24265454, 29970661
Prostatic Neoplasms Castration Resistant	Associate	24265454
Skin Neoplasms	Associate	20220765
Split hand split foot nystagmus	Associate	27694622, 7912888

SEM1 (SEM1 26S proteasome subunit)