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    SLU7 SLU7 homolog, splicing factor [ Homo sapiens (human) ]

    Gene ID: 10569, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SLU7provided by HGNC
    Official Full Name
    SLU7 homolog, splicing factorprovided by HGNC
    Primary source
    HGNC:HGNC:16939
    See related
    Ensembl:ENSG00000164609 MIM:605974; AllianceGenome:HGNC:16939
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    9G8; hSlu7
    Summary
    Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is a splicing factor that has been found to be essential during the second catalytic step in the pre-mRNA splicing process. It associates with the spliceosome and contains a zinc knuckle motif that is found in other splicing factors and is involved in protein-nucleic acid and protein-protein interactions. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 16.4), thyroid (RPKM 15.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLU7 in Genome Data Viewer
    Location:
    5q33.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (160401641..160419081, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (160930130..160947593, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (159828648..159846088, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene C1q and TNF related 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:159825203-159825702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:159826022-159826707 Neighboring gene family with sequence similarity 200 member C Neighboring gene MPRA-validated peak5561 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23561 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16584 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16585 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:159849111-159849667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23563 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23564 Neighboring gene PTTG1 regulator of sister chromatid separation, securin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23565 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23567 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:159894202-159894838 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:159894839-159895475 Neighboring gene MIR3142 host gene Neighboring gene microRNA 3142

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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?
    1. SLU7: A New Hub of Gene Expression Regulation-From Epigenetics to Protein Stability in Health and Disease.
      Title: SLU7: A New Hub of Gene Expression Regulation-From Epigenetics to Protein Stability in Health and Disease.
    2. Splicing Factor SLU7 Prevents Oxidative Stress-Mediated Hepatocyte Nuclear Factor 4alpha Degradation, Preserving Hepatic Differentiation and Protecting From Liver Damage.
      Title: Splicing Factor SLU7 Prevents Oxidative Stress-Mediated Hepatocyte Nuclear Factor 4α Degradation, Preserving Hepatic Differentiation and Protecting From Liver Damage.
    3. The splicing regulator SLU7 is required to preserve DNMT1 protein stability and DNA methylation.
      Title: The splicing regulator SLU7 is required to preserve DNMT1 protein stability and DNA methylation.
    4. We define a molecular pathway through which SLU7 keeps in check the generation of truncated forms of the splicing factor SRSF3 (SRp20) (SRSF3-TR). Behaving as dominant negative, or by gain-of-function, SRSF3-TR impair the correct splicing and expression of the splicing regulator SRSF1 (ASF/SF2) and the crucial SCC protein sororin.
      Title: Splicing events in the control of genome integrity: role of SLU7 and truncated SRSF3 proteins.
    5. High SLU7 expression is associated with alcoholic steatohepatitis.
      Title: Hepatic Knockdown of Splicing Regulator Slu7 Ameliorates Inflammation and Attenuates Liver Injury in Ethanol-Fed Mice.
    6. these findings indicate that SLU7 is co-opted by hepatocellular carcinoma (HCC) cells and other tumor cell types to maintain survival, and identify this splicing regulator as a new determinant for the expression of the oncogenic miR-17-92 cluster. This novel mechanism may be exploited for the development of antitumoral strategies in cancers displaying such SLU7-miR-17-92 crosstalk
      Title: Splicing regulator SLU7 preserves survival of hepatocellular carcinoma cells and other solid tumors via oncogenic miR-17-92 cluster expression.
    7. SLU7 knockdown in liver cells resulted in profound changes in pre-mRNA splicing and gene expression, leading to impaired glucose and lipid metabolism, refractoriness to key metabolic hormones, and reversion to a fetal-like gene expression pattern.
      Title: Splicing regulator SLU7 is essential for maintaining liver homeostasis.
    8. These observations together point to an altered recruitment and dependence on SLU7, suggesting its role in facilitating transitions that promote catalysis, and highlight the diversity in spliceosome assembly.
      Title: Splicing functions and global dependency on fission yeast slu7 reveal diversity in spliceosome assembly.
    9. RBM22 and hSlu7 differ significantly in their subcellular distributions under stress conditions, and RBM22 enhances the cytoplasmic translocation of hSlu7 under stress.
      Title: Stress induced subcellular distribution of ALG-2, RBM22 and hSlu7.
    10. Regulation of transcription of the RNA splicing factor hSlu7 by Elk-1 and Sp1 affects alternative splicing
      Title: Regulation of transcription of the RNA splicing factor hSlu7 by Elk-1 and Sp1 affects alternative splicing.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of SLU7 splicing factor homolog (SLU7) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC9280

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables pre-mRNA 3'-splice site binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables second spliceosomal transesterification activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in RNA splicing, via transesterification reactions IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in alternative mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to heat IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in intracellular protein transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mRNA 3'-splice site recognition IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of small nuclear ribonucleoprotein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of spliceosomal complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    pre-mRNA-splicing factor SLU7
    Names
    SLU7 splicing factor homolog
    splicing factor
    step II splicing factor SLU7
    zinc knuckle motif containing

    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)

    1. NM_001364517.2 → NP_001351446.1  pre-mRNA-splicing factor SLU7 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC091842
      UniProtKB/TrEMBL
      B2RBA0
      Conserved Domains (1) summary
      pfam11708
      Location:176 → 449
      Slu7; Pre-mRNA splicing Prp18-interacting factor

    2. NM_001364518.2 → NP_001351447.1  pre-mRNA-splicing factor SLU7 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variants 2, 4, and 5, encodes isoform b.
      Source sequence(s)
      AC091842
      Consensus CDS
      CCDS4352.1
      UniProtKB/Swiss-Prot
      D3DQK2, O95391, Q3LUJ0, Q3LUJ1, Q6RXQ5, Q96FM9
      UniProtKB/TrEMBL
      B2RBA0
      Conserved Domains (1) summary
      pfam11708
      Location:161 → 434
      Slu7; Pre-mRNA splicing Prp18-interacting factor

    3. NM_001364520.2 → NP_001351449.1  pre-mRNA-splicing factor SLU7 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 2, 3, and 5, encodes isoform b.
      Source sequence(s)
      AC091842
      Consensus CDS
      CCDS4352.1
      UniProtKB/Swiss-Prot
      D3DQK2, O95391, Q3LUJ0, Q3LUJ1, Q6RXQ5, Q96FM9
      UniProtKB/TrEMBL
      B2RBA0
      Conserved Domains (1) summary
      pfam11708
      Location:161 → 434
      Slu7; Pre-mRNA splicing Prp18-interacting factor

    4. NM_001364521.2 → NP_001351450.1  pre-mRNA-splicing factor SLU7 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 2-4, encodes isoform b.
      Source sequence(s)
      AC091842
      Consensus CDS
      CCDS4352.1
      UniProtKB/Swiss-Prot
      D3DQK2, O95391, Q3LUJ0, Q3LUJ1, Q6RXQ5, Q96FM9
      UniProtKB/TrEMBL
      B2RBA0
      Conserved Domains (1) summary
      pfam11708
      Location:161 → 434
      Slu7; Pre-mRNA splicing Prp18-interacting factor

    5. NM_001364522.2 → NP_001351451.1  pre-mRNA-splicing factor SLU7 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variant 7, encodes isoform c.
      Source sequence(s)
      AC091842
      UniProtKB/TrEMBL
      B2RBA0
      Conserved Domains (1) summary
      pfam11708
      Location:171 → 444
      Slu7; Pre-mRNA splicing Prp18-interacting factor

    6. NM_001364523.2 → NP_001351452.1  pre-mRNA-splicing factor SLU7 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variant 6, encodes isoform c.
      Source sequence(s)
      AC091842
      UniProtKB/TrEMBL
      B2RBA0
      Conserved Domains (1) summary
      pfam11708
      Location:171 → 444
      Slu7; Pre-mRNA splicing Prp18-interacting factor

    7. NM_006425.5 → NP_006416.3  pre-mRNA-splicing factor SLU7 isoform b

      See identical proteins and their annotated locations for NP_006416.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), as well as variants 3-5, encodes isoform b.
      Source sequence(s)
      AC091842, BC010634, BE221264, CA976106, DA232975, DA409854
      Consensus CDS
      CCDS4352.1
      UniProtKB/Swiss-Prot
      D3DQK2, O95391, Q3LUJ0, Q3LUJ1, Q6RXQ5, Q96FM9
      UniProtKB/TrEMBL
      B2RBA0
      Related
      ENSP00000297151.4, ENST00000297151.9
      Conserved Domains (1) summary
      pfam11708
      Location:161 → 434
      Slu7; Pre-mRNA splicing Prp18-interacting factor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      160401641..160419081 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024454327.2 → XP_024310095.1  pre-mRNA-splicing factor SLU7 isoform X1

      UniProtKB/Swiss-Prot
      D3DQK2, O95391, Q3LUJ0, Q3LUJ1, Q6RXQ5, Q96FM9
      UniProtKB/TrEMBL
      B2RBA0
      Conserved Domains (1) summary
      pfam11708
      Location:161 → 434
      Slu7; Pre-mRNA splicing Prp18-interacting factor

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      160930130..160947593 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351441.1 → XP_054207416.1  pre-mRNA-splicing factor SLU7 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95391.2 GenPept UniProtKB/Swiss-Prot:O95391

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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