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

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

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

MIM	HGNC	e!Ensembl
617263	29897	ENSG00000169189

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

Interactions

View interactions

	Reactome
			SUMOylation of DNA damage response and repair proteins

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 (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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

NSMCE1 (NSE1 component of SMC5/6 complex)