NSMCE1 (NSE1 component of SMC5/6 complex)

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

Gene

• Entrez ID: 197370
• Gene name: NSE1 component of SMC5/6 complex
• Gene symbol: NSMCE1
• Synonyms (NCBI Gene): NSE1
• Chromosome: 16
• Chromosome location: 16p12.1

miRNA Show/Hide all (67)

miRTarBase ID	miRNA	Experiments	Reference
MIRT488545	hsa-miR-4258	PAR-CLIP	23592263
MIRT488544	hsa-miR-7108-3p	PAR-CLIP	23592263
MIRT488543	hsa-miR-324-5p	PAR-CLIP	23592263
MIRT488542	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT488540	hsa-miR-8085	PAR-CLIP	23592263
MIRT488545	hsa-miR-4258	PAR-CLIP	23592263
MIRT488544	hsa-miR-7108-3p	PAR-CLIP	23592263
MIRT488543	hsa-miR-324-5p	PAR-CLIP	23592263
MIRT488542	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT488540	hsa-miR-8085	PAR-CLIP	23592263
MIRT1195343	hsa-miR-1193	CLIP-seq
MIRT1195344	hsa-miR-184	CLIP-seq
MIRT1195345	hsa-miR-1915	CLIP-seq
MIRT1195346	hsa-miR-208a	CLIP-seq
MIRT1195347	hsa-miR-208b	CLIP-seq
MIRT1195348	hsa-miR-2392	CLIP-seq
MIRT1195349	hsa-miR-299-5p	CLIP-seq
MIRT1195350	hsa-miR-3138	CLIP-seq
MIRT1195351	hsa-miR-320a	CLIP-seq
MIRT1195352	hsa-miR-320b	CLIP-seq
MIRT1195353	hsa-miR-320c	CLIP-seq
MIRT1195354	hsa-miR-320d	CLIP-seq
MIRT1195355	hsa-miR-4429	CLIP-seq
MIRT1195356	hsa-miR-4726-3p	CLIP-seq
MIRT1195357	hsa-miR-4800-5p	CLIP-seq
MIRT1195358	hsa-miR-4804-5p	CLIP-seq
MIRT1195359	hsa-miR-499-5p	CLIP-seq
MIRT2583124	hsa-miR-1972	CLIP-seq
MIRT2583125	hsa-miR-214	CLIP-seq
MIRT2583126	hsa-miR-3154	CLIP-seq
MIRT2583127	hsa-miR-3194-5p	CLIP-seq
MIRT2583128	hsa-miR-3619-5p	CLIP-seq
MIRT2583129	hsa-miR-3714	CLIP-seq
MIRT2583130	hsa-miR-3922-5p	CLIP-seq
MIRT2583131	hsa-miR-4291	CLIP-seq
MIRT2583132	hsa-miR-4446-3p	CLIP-seq
MIRT2583133	hsa-miR-4650-5p	CLIP-seq
MIRT2583134	hsa-miR-4659a-3p	CLIP-seq
MIRT2583135	hsa-miR-4659b-3p	CLIP-seq
MIRT2583136	hsa-miR-4675	CLIP-seq
MIRT2583137	hsa-miR-4717-5p	CLIP-seq
MIRT2583138	hsa-miR-4741	CLIP-seq
MIRT2583139	hsa-miR-4749-3p	CLIP-seq
MIRT2583140	hsa-miR-4772-5p	CLIP-seq
MIRT2583141	hsa-miR-494	CLIP-seq
MIRT2583142	hsa-miR-761	CLIP-seq
MIRT2583143	hsa-miR-922	CLIP-seq
MIRT2583124	hsa-miR-1972	CLIP-seq
MIRT2583125	hsa-miR-214	CLIP-seq
MIRT2583126	hsa-miR-3154	CLIP-seq
MIRT2583127	hsa-miR-3194-5p	CLIP-seq
MIRT2583128	hsa-miR-3619-5p	CLIP-seq
MIRT2583129	hsa-miR-3714	CLIP-seq
MIRT2583130	hsa-miR-3922-5p	CLIP-seq
MIRT2583131	hsa-miR-4291	CLIP-seq
MIRT2583132	hsa-miR-4446-3p	CLIP-seq
MIRT2583133	hsa-miR-4650-5p	CLIP-seq
MIRT2583134	hsa-miR-4659a-3p	CLIP-seq
MIRT2583135	hsa-miR-4659b-3p	CLIP-seq
MIRT2583136	hsa-miR-4675	CLIP-seq
MIRT2583137	hsa-miR-4717-5p	CLIP-seq
MIRT2583138	hsa-miR-4741	CLIP-seq
MIRT2583139	hsa-miR-4749-3p	CLIP-seq
MIRT2583140	hsa-miR-4772-5p	CLIP-seq
MIRT2583141	hsa-miR-494	CLIP-seq
MIRT2583142	hsa-miR-761	CLIP-seq
MIRT2583143	hsa-miR-922	CLIP-seq

Gene ontology (GO) Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	NAS	16810316
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	NAS	17589526
GO:0004842	Function	Ubiquitin-protein transferase activity	IBA
GO:0005515	Function	Protein binding	IPI	14701739, 18086888, 20864041, 21364888, 26496610, 27427983, 28514442, 32389690, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	18086888
GO:0008270	Function	Zinc ion binding	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016925	Process	Protein sumoylation	NAS	32389690
GO:0030915	Component	Smc5-Smc6 complex	IBA
GO:0030915	Component	Smc5-Smc6 complex	IDA	18086888
GO:0030915	Component	Smc5-Smc6 complex	IEA
GO:0030915	Component	Smc5-Smc6 complex	NAS	32389690
GO:0032204	Process	Regulation of telomere maintenance	NAS	17589526
GO:0046872	Function	Metal ion binding	IEA
GO:0046983	Function	Protein dimerization activity	IDA	27427983
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	20864041
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0097431	Component	Mitotic spindle pole	IEA
GO:0140588	Process	Chromatin looping	NAS	32389690

Other IDs

• MIM: 617263
• HGNC: 29897
• e!Ensembl: ENSG00000169189

Protein

• UniProt ID: Q8WV22
• Protein name: Non-structural maintenance of chromosomes element 1 homolog (Non-SMC element 1 homolog) (EC 2.3.2.27)
• Protein function: RING-type zinc finger-containing E3 ubiquitin ligase that assembles with melanoma antigen protein (MAGE) to catalyze the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. Within MAGE-RING ubiquitin ligase
• PDB: 2CT0 , 5HVQ , 5WY5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07574	SMC_Nse1	15 → 176	Nse1 non-SMC component of SMC5-6 complex	Family
  PF08746	zf-RING-like	191 → 231	RING-like domain	Domain

• Sequence:

  MQGSTRRMGVMTDVHRRFLQLLMTHGVLEEWDVKRLQTHCYKVHDRNATVDKLEDFINNI
  NSVLESLYIEIKRGVTEDDGRPIYALVNLATTSISKMATDFAENELDLFRKALELIIDSE
  TGFASSTNILNLVDQLKGKKMRKKEAEQVLQKFVQNKWLIEKEGEFTLHGRAILEMEQYI
  RETYPDAVKICNICHSLLIQGQSCETCGIRMHLPCVAKYFQSNAEPRCPHCNDYWPHEIP
  KVFDPEKERESGVLKSNKKSLRSRQH

• Sequence length: 266

Pathways

Reactome Pathway:

SUMOylation of DNA damage response and repair proteins

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
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ASTHMA	—	GWAS catalog	29679657, 31959851	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	40164604	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	27082954	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (6)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	33663605, 33754896	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18446232		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18446232		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	GWASCAT_DG	27082954		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18446232		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18446232	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for NSMCE1.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to NSMCE1.