SUPV3L1 (Suv3 like RNA helicase)

Gene

• Entrez ID: 6832
• Gene name: Suv3 like RNA helicase
• Gene symbol: SUPV3L1
• Synonyms (NCBI Gene): SUV3
• Chromosome: 10
• Chromosome location: 10q22.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027436	hsa-miR-98-5p	Microarray	19088304
MIRT046569	hsa-miR-200b-3p	CLASH	23622248
MIRT046174	hsa-miR-27b-3p	CLASH	23622248
MIRT044646	hsa-miR-320a	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000957	Process	Mitochondrial RNA catabolic process	TAS
GO:0000958	Process	Mitochondrial mRNA catabolic process	IMP	19864255, 22661577
GO:0000962	Process	Positive regulation of mitochondrial RNA catabolic process	IDA	19509288, 29967381
GO:0000962	Process	Positive regulation of mitochondrial RNA catabolic process	IMP	19864255
GO:0000965	Process	Mitochondrial RNA 3'-end processing	IBA
GO:0000965	Process	Mitochondrial RNA 3'-end processing	IMP	19864255
GO:0003677	Function	DNA binding	IMP	12466530
GO:0003678	Function	DNA helicase activity	IMP	12466530
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	TAS	9925937
GO:0003724	Function	RNA helicase activity	IDA	19509288
GO:0003724	Function	RNA helicase activity	IEA
GO:0003725	Function	Double-stranded RNA binding	IDA	19509288
GO:0004386	Function	Helicase activity	IEA
GO:0004386	Function	Helicase activity	TAS	9925937
GO:0005515	Function	Protein binding	IPI	17961633, 19509288, 25416956, 28514442, 29967381, 32296183, 33961781, 39251607
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	17352692
GO:0005634	Component	Nucleus	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	17352692, 19864255
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	9925937
GO:0005759	Component	Mitochondrial matrix	IDA	12466530
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006310	Process	DNA recombination	IMP	17961633
GO:0006401	Process	RNA catabolic process	IMP	18678873
GO:0007005	Process	Mitochondrion organization	IMP	19864255
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030307	Process	Positive regulation of cell growth	IMP	19864255
GO:0034458	Function	3'-5' RNA helicase activity	EXP	15096047, 19509288, 35481630
GO:0034458	Function	3'-5' RNA helicase activity	IDA	19509288
GO:0035945	Process	Mitochondrial ncRNA surveillance	IMP	19864255
GO:0035946	Process	Mitochondrial mRNA surveillance	IMP	19864255
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578
GO:0042645	Component	Mitochondrial nucleoid	IEA
GO:0042802	Function	Identical protein binding	IPI	19509288, 39251607
GO:0042803	Function	Protein homodimerization activity	IPI	19509288
GO:0043066	Process	Negative regulation of apoptotic process	IMP	17352692
GO:0045025	Component	Mitochondrial degradosome	IBA
GO:0045025	Component	Mitochondrial degradosome	IDA	19509288, 29967381
GO:2000827	Process	Mitochondrial RNA surveillance	IMP	19864255

Other IDs

• MIM: 605122
• HGNC: 11471
• e!Ensembl: ENSG00000156502

Protein

• UniProt ID: Q8IYB8
• Protein name: ATP-dependent RNA helicase SUPV3L1, mitochondrial (EC 3.6.4.13) (Suppressor of var1 3-like protein 1) (SUV3-like protein 1)
• Protein function: Major helicase player in mitochondrial RNA metabolism. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. Involved in the degradati
• PDB: 3RC3, 3RC8, 7W1R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18114	Suv3_N	62 → 179	Suv3 helical N-terminal domain	Domain
  PF00271	Helicase_C	352 → 475	Helicase conserved C-terminal domain	Family
  PF18147	Suv3_C_1	556 → 598	Suv3 C-terminal domain 1	Domain
  PF12513	SUV3_C	625 → 672	Mitochondrial degradasome RNA helicase subunit C terminal	Family

• Tissue specificity: TISSUE SPECIFICITY: Broadly expressed. {ECO:0000269|PubMed:10453991}.
• Sequence:

  MSFSRALLWARLPAGRQAGHRAAICSALRPHFGPFPGVLGQVSVLATASSSASGGSKIPN
  TSLFVPLTVKPQGPSADGDVGAELTRPLDKNEVKKVLDKFYKRKEIQKLGADYGLDARLF
  HQAFISFRNYIMQSHSLDVDIHIVLNDICFGAAHADDLFPFFLRHAKQIFPVLDCKDDLR
  KISDLRIPPNWYPDARAMQRKIIFHSGPTNSGKTYHAIQKYFSAKSGVYCGPLKLLAHEI
  FEKSNAAGVPCDLVTGEERVTVQPNGKQASHVSCTVEMCSVTTPYEVAVIDEIQMIRDPA
  RGWAWTRALLGLCAEEVHLCGEPAAIDLVMELMYTTGEEVEVRDYKRLTPISVLDHALES
  LDNLRPGDCIVCFSKNDIYSVSRQIEIRGLESAVIYGSLPPGTKLAQAKKFNDPNDPCKI
  LVATDAIGMGLNLSIRRIIFYSLIKPSINEKGERELEPITTSQALQIAGRAGRFSSRFKE
  GEVTTMNHEDLSLLKEILKRPVDPIRAAGLHPTAEQIEMFAYHLPDATLSNLIDIFVDFS
  QVDGQYFVCNMDDFKFSAELIQHIPLSLRVRYVFCTAPINKKQPFVCSSLLQFARQYSRN
  EPLTFAWLRRYIKWPLLPPKNIKDLMDLEAVHDVLDLYLWLSYRFMDMFPDASLIRDLQK
  ELDGIIQDGVHNITKLIKMSETHKLLNLEGFPSGSQSRLSGTLKSQARRTRGTKALGSKA
  TEPPSPDAGELSLASRLVQQGLLTPDMLKQLEKEWMTQQTEHNKEKTESGTHPKGTRRKK
  KEPDSD

• Sequence length: 786

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	Evidence Score
CONGENITAL ANOMALY OF SKIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ICHTHYOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOPENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN ABNORMALITIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	CTD_human_DG	19145458		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	CTD_human_DG	19145458		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	CTD_human_DG	19145458		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	39596606	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	35023579	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	35023579	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	39596606	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	35023579	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	CTD_human_DG	19145458		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intervertebral Disc Displacement	Intervertebral disc displacement	Pubtator	31455417	Associate	★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22562243		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	29518244		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	35023579, 39596606	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22562243		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	39596606	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	39596606	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	35023579, 39596606	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Spastic	Paraparesis	Pubtator	35023579, 39596606	Associate	★☆☆☆☆ Found in Text Mining only
Pseudopelade	Pseudopelade	CTD_human_DG	19145458		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36899372	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	35023579	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	39596606	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia autosomal recessive 5	Spinocerebellar ataxia	Pubtator	39596606	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32164594	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma	Xeroderma	CTD_human_DG	19145458		★★☆☆☆ Found in Text Mining + Unknown/Other Associations