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

Summary

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

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_000005.10 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 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?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

RH121435 (e-PCR)
- UniSTS:138076

D5S2666 (e-PCR)
- UniSTS:350

PMC316594P1 (e-PCR)
- UniSTS:273017

D5S1599E (e-PCR)
- UniSTS:151020

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 more info	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)

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
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
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
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
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
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
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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

160401641..160419081 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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