SUPV3L1 Suv3 like RNA helicase [Homo sapiens (human)] - Gene

Summary

Official Symbol: SUPV3L1provided by HGNC
Official Full Name: Suv3 like RNA helicaseprovided by HGNC
Primary source: HGNC:HGNC:11471
See related: Ensembl:ENSG00000156502 MIM:605122; AllianceGenome:HGNC:11471
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SUV3
Summary: Enables helicase activity; nucleic acid binding activity; and protein homodimerization activity. Involved in several processes, including mitochondrial RNA metabolic process; mitochondrion morphogenesis; and positive regulation of mitochondrial RNA catabolic process. Located in mitochondrial nucleoid and nucleus. Part of mitochondrial degradosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 11.2), bone marrow (RPKM 8.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.1

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (69180234..69209093)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (70048571..70077444)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (70939990..70968849)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dimeric assembly of human Suv3 helicase promotes its RNA unwinding function in mitochondrial RNA degradosome for RNA decay.
Title: Dimeric assembly of human Suv3 helicase promotes its RNA unwinding function in mitochondrial RNA degradosome for RNA decay.
Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome.
Title: Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome.
Identification of immune cells and mRNA associated with prognosis of gastric cancer.
Title: Identification of immune cells and mRNA associated with prognosis of gastric cancer.
the nucleolar- associated human SUV3 protein is an important factor in regulation of the cell cycle.
Title: Human SUV3 helicase regulates growth rate of the HeLa cells and can localize in the nucleoli.
the capacity of hSuv3 DNA unwinding activity might be sensitive to the local availability of specific inorganic cofactors
Title: Regulation of the human Suv3 helicase on DNA by inorganic cofactors.
SUV3 bridges PNPase and mtPAP to form a transient complex in modulating mt-mRNA poly(A) tail length depending on the mitochondrial matrix Pi level.
Title: Helicase SUV3, polynucleotide phosphorylase, and mitochondrial polyadenylation polymerase form a transient complex to modulate mitochondrial mRNA polyadenylated tail lengths in response to energetic changes.
Interaction between PNPase and hSuv3 is essential for efficient mitochondrial RNA degradation.
Title: Human mitochondrial RNA decay mediated by PNPase-hSuv3 complex takes place in distinct foci.
The hSuv3p activity was found to be necessary in the regulation of stability of mature, properly formed mRNAs and for removal of the noncoding processing intermediates transcribed from both H and L-strands.
Title: Human mitochondrial RNA turnover caught in flagranti: involvement of hSuv3p helicase in RNA surveillance.
The complex of hSUV3-hPNPase is an integral entity for efficient degradation of structured RNA and may be the long sought RNA-degrading complex in the mammalian mitochondria.
Title: Human mitochondrial SUV3 and polynucleotide phosphorylase form a 330-kDa heteropentamer to cooperatively degrade double-stranded RNA with a 3'-to-5' directionality.
SUV3 is essential for maintaining proper mitochondrial function, likely through a conserved role in mitochondrial RNA regulation.
Title: Role of SUV3 helicase in maintaining mitochondrial homeostasis in human cells.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S1647 (e-PCR), detects polymorphism
- UniSTS:66820

WI-13637 (e-PCR)
- UniSTS:360

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3'-5' RNA helicase activity	EXP Inferred from Experiment more info	PubMed
enables 3'-5' RNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA helicase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables RNA binding	HDA more info	PubMed
enables RNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables RNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables helicase activity	TAS Traceable Author Statement more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA duplex unwinding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in RNA catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in RNA catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial RNA 3'-end processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial RNA 3'-end processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial RNA catabolic process	TAS Traceable Author Statement more info
involved_in mitochondrial RNA surveillance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial mRNA catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial mRNA surveillance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial ncRNA surveillance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitochondrial RNA catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mitochondrial RNA catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of mitochondrial degradosome	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial degradosome	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrial nucleoid	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ATP-dependent RNA helicase SUPV3L1, mitochondrial

Names: SUV3-like helicase; SUV3-like protein 1; suppressor of var1, 3-like 1; suppressor of var1, 3-like 1(SUV3)

NP_001288612.1

EC 3.6.4.13

NP_001310513.1

EC 3.6.4.13

NP_001310514.1

EC 3.6.4.13

NP_001310515.1

EC 3.6.4.13

NP_001310516.1

EC 3.6.4.13

NP_001310517.1

EC 3.6.4.13

NP_003162.2

EC 3.6.4.13

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001301683.2 → NP_001288612.1 ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 2

See identical proteins and their annotated locations for NP_001288612.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate exon in the 5' region and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1. Variants 2 and 3 both encode the same isoform (2).

Source sequence(s)

AK299670, BC036112, BM675613, DC398467

UniProtKB/TrEMBL

B7Z611

Conserved Domains (3) summary

COG0513
Location:152 → 369

SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]

cd00079
Location:209 → 355

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

pfam12513
Location:495 → 541

SUV3_C; Mitochondrial degradasome RNA helicase subunit C terminal
NM_001323584.2 → NP_001310513.1 ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (3) and variant 2 both encode the same isoform (2).

Source sequence(s)

AL596223

UniProtKB/TrEMBL

B7Z611

Conserved Domains (3) summary

COG0513
Location:152 → 369

SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]

cd00079
Location:209 → 355

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

pfam12513
Location:495 → 541

SUV3_C; Mitochondrial degradasome RNA helicase subunit C terminal
NM_001323585.2 → NP_001310514.1 ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (4) and variant 5 both encode the same isoform (3).

Source sequence(s)

AL596223

UniProtKB/TrEMBL

B7Z611
NM_001323586.2 → NP_001310515.1 ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (5) and variant 4 both encode the same isoform (3).

Source sequence(s)

AL596223

UniProtKB/TrEMBL

B7Z611
NM_001323587.2 → NP_001310516.1 ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (6) and variant 7 both encode the same isoform (4).

Source sequence(s)

AL596223
NM_001323588.2 → NP_001310517.1 ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (7) and variant 6 both encode the same isoform (4).

Source sequence(s)

AL596223
NM_003171.5 → NP_003162.2 ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 1

See identical proteins and their annotated locations for NP_003162.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

BC036112, DC398467

Consensus CDS

CCDS7287.1

UniProtKB/Swiss-Prot

A8K301, O43630, Q8IYB8

UniProtKB/TrEMBL

B7Z611

Related

ENSP00000352678.4, ENST00000359655.9

Conserved Domains (2) summary

cd00079
Location:340 → 486

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

pfam12513
Location:626 → 672

SUV3_C; Mitochondrial degradasome RNA helicase subunit C terminal