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

Gene ID: 6832, updated on 7-Jun-2020

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
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
Expression
Ubiquitous expression in testis (RPKM 11.2), bone marrow (RPKM 8.5) and 25 other tissues See more
Orthologs

Genomic context

See SUPV3L1 in Genome Data Viewer
Location:
10q22.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (69180234..69209093)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (70939993..70968854)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene serglycin Neighboring gene VPS26, retromer complex component A Neighboring gene ribosomal protein S12 pseudogene 17 Neighboring gene uncharacterized LOC101928994 Neighboring gene hexokinase domain containing 1 Neighboring gene hexokinase 1 Neighboring gene ribosomal protein S15a pseudogene 28

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3'-5' RNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA helicase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
RNA binding HDA PubMed 
RNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
helicase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA duplex unwinding IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
RNA catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
chromatin maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial RNA 3'-end processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial RNA 3'-end processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial RNA surveillance IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial mRNA catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial mRNA surveillance IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial ncRNA surveillance IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mitochondrial RNA catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of mitochondrial RNA catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
mitochondrial degradosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial degradosome IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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
NP_001310513.1
NP_001310514.1
NP_001310515.1
NP_001310516.1
NP_001310517.1
NP_003162.2

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001301683.2NP_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/Swiss-Prot
    Q8IYB8
    UniProtKB/TrEMBL
    B7Z611
    Conserved Domains (3) summary
    COG0513
    Location:152369
    SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
    cd00079
    Location:209355
    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:495541
    SUV3_C; Mitochondrial degradasome RNA helicase subunit C terminal
  2. NM_001323584.2NP_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
    Conserved Domains (3) summary
    COG0513
    Location:152369
    SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
    cd00079
    Location:209355
    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:495541
    SUV3_C; Mitochondrial degradasome RNA helicase subunit C terminal
  3. NM_001323585.2NP_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
  4. NM_001323586.2NP_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
  5. NM_001323587.2NP_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
  6. NM_001323588.2NP_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
  7. NM_003171.5NP_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
    Q8IYB8
    Related
    ENSP00000352678.4, ENST00000359655.9
    Conserved Domains (2) summary
    cd00079
    Location:340486
    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:626672
    SUV3_C; Mitochondrial degradasome RNA helicase subunit C terminal

RNA

  1. NR_136626.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL596223
  2. NR_136627.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL596223

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    69180234..69209093
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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