NSMCE3 (NSE3 component of SMC5/6 complex)

Gene

• Entrez ID: 56160
• Gene name: NSE3 component of SMC5/6 complex
• Gene symbol: NSMCE3
• Synonyms (NCBI Gene): HCA4, LICS, MAGEG1, MAGEL3, NDNL2, NSE3
• Chromosome: 15
• Chromosome location: 15q13.1
• Summary: The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. This is an intronless gene. [provided by RefSeq, May 2011]

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	NAS	16810316
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	NAS	17589526
GO:0005515	Function	Protein binding	IPI	18086888, 20864041, 21364888, 26496610, 27427983, 28514442, 32389690, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IMP	27427983
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0016925	Process	Protein sumoylation	NAS	32389690
GO:0030915	Component	Smc5-Smc6 complex	IDA	18086888, 27427983
GO:0030915	Component	Smc5-Smc6 complex	NAS	32389690
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	20864041
GO:0032204	Process	Regulation of telomere maintenance	NAS	17589526
GO:0034644	Process	Cellular response to UV	IMP	27427983
GO:0046983	Function	Protein dimerization activity	IDA	27427983
GO:0060255	Process	Regulation of macromolecule metabolic process	IEA
GO:0071478	Process	Cellular response to radiation	IMP	27427983
GO:0072711	Process	Cellular response to hydroxyurea	IMP	27427983
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:0140588	Process	Chromatin looping	NAS	32389690

Other IDs

• MIM: 608243
• HGNC: 7677
• e!Ensembl: ENSG00000185115

Protein

• UniProt ID: Q96MG7
• Protein name: Non-structural maintenance of chromosomes element 3 homolog (Non-SMC element 3 homolog) (Hepatocellular carcinoma-associated protein 4) (MAGE-G1 antigen) (Melanoma-associated antigen G1) (Necdin-like protein 2)
• Protein function: Component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination (PubMed:20864041, PubMed:27427983). The complex may promote sister chromatid homologous recombination by recruiting the SMC1
• PDB: 5HVQ, 5WY5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01454	MAGE	92 → 261	MAGE family	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11782285}.
• Sequence:

  MLQKPRNRGRSGGQAERDRDWSHSGNPGASRAGEDARVLRDGFAEEAPSTSRGPGGSQGS
  QGPSPQGARRAQAAPAVGPRSQKQLELKVSELVQFLLIKDQKKIPIKRADILKHVIGDYK
  DIFPDLFKRAAERLQYVFGYKLVELEPKSNTYILINTLEPVEEDAEMRGDQGTPTTGLLM
  IVLGLIFMKGNTIKETEAWDFLRRLGVYPTKKHLIFGDPKKLITEDFVRQRYLEYRRIPH
  TDPVDYEFQWGPRTNLETSKMKVLKFVAKVHNQDPKDWPAQYCEALADEENRARPQPSGP
  APSS

• Sequence length: 304

Pathways

Reactome:

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Lung damage, immunodeficiency and chromosome breakage syndrome	Likely pathogenic; Pathogenic	rs199905054, rs886037827	RCV000258542 RCV000258643	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung disease, immunodeficiency, and chromosome breakage syndrome;	Likely pathogenic; Pathogenic	rs199905054, rs886037827	RCV000412499 RCV000412556	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME,	—	CTD, ClinGen, ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NSMCE3-related disorder	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Chromosome Breakage	Associate	27427983	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Associate	27427983	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	20864041	★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome	Associate	27427983	★☆☆☆☆ Found in Text Mining only