Psip1 PC4 and SFRS1 interacting protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Psip1provided by MGI
Official Full Name: PC4 and SFRS1 interacting protein 1provided by MGI
Primary source: MGI:MGI:2142116
See related: Ensembl:ENSMUSG00000028484 AllianceGenome:MGI:2142116
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Dfs70; Psip2; Ledgfa; Ledgfb
Summary: Predicted to enable several functions, including chromatin binding activity; supercoiled DNA binding activity; and transcription coactivator activity. Involved in response to heat and response to oxidative stress. Predicted to be located in chromatin and nuclear lumen. Predicted to be active in nucleus. Is expressed in several structures, including cranial ganglion; limb; limb bud; sensory organ; and vibrissa. Orthologous to human PSIP1 (PC4 and SFRS1 interacting protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in CNS E11.5 (RPKM 73.8), CNS E14 (RPKM 48.3) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 C3; 4 39.46 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (83373917..83404700, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (83455680..83486463, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unlike Its Paralog LEDGF/p75, HRP-2 Is Dispensable for MLL-R Leukemogenesis but Important for Leukemic Cell Survival.
Title: Unlike Its Paralog LEDGF/p75, HRP-2 Is Dispensable for MLL-R Leukemogenesis but Important for Leukemic Cell Survival.
PSIP1 likely plays an important role in Hereditary Hearing Loss.
Title: PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss.
The role of Psip1 in cardiac development
Title: Embryonic Lethality Due to Arrested Cardiac Development in Psip1/Hdgfrp2 Double-Deficient Mice.
conclude that small peptides disrupting the LEDGF/p75-MLL interface have selective anti-leukemic activity providing a direct rationale for the design of small molecule inhibitors targeting this interaction
Title: Impairing MLL-fusion gene-mediated transformation by dissecting critical interactions with the lens epithelium-derived growth factor (LEDGF/p75).
Lens epithelium-derived growth factor fusion proteins redirect HIV-1 DNA integration.
Title: Lens epithelium-derived growth factor fusion proteins redirect HIV-1 DNA integration.
some DFS70-positive sera have antibodies that recognize antigens of the lens
Title: Antibodies to the lens and cornea in anti-DFS70-positive subjects.
LEDGF is one of the transcriptional activators of these genes that facilitates cellular protection against ethanol stress and plays a role in retinoic acid production.
Title: LEDGF regulation of alcohol and aldehyde dehydrogenases in lens epithelial cells: stimulation of retinoic acid production and protection from ethanol toxicity.
Results suggest that TNF-alpha elevates the expression of lens epithelium-derived growth factor (LEDGF) and that LEDGF is one of the transactivators of gamma-glutamylcysteine synthetase heavy subunit gene.
Title: Regulation of heavy subunit chain of gamma-glutamylcysteine synthetase by tumor necrosis factor-alpha in lens epithelial cells: role of LEDGF/p75.
These suggest a role for Psip1 in the control of Homeobox expression and may also explain why PSIP1 (LEDGF) is found as a fusion partner with NUP98 in myeloid leukemias.
Title: Disruption of Ledgf/Psip1 results in perinatal mortality and homeotic skeletal transformations.
Alcohol (ADH) and ALDH dehydrogenases are implicated in cellular detoxification and conversion of vitamin A to RA. Lens epithelium-derived growth factor provides cellular protection against stress by transactivating stress-associated genes.
Title: LEDGF regulation of alcohol and aldehyde dehydrogenases in lens epithelial cells: stimulation of retinoic acid production and protection from ethanol toxicity.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1) 1 citation
Targeted (1) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU022012 (e-PCR)
- UniSTS:207632

RH124779 (e-PCR)
- UniSTS:161601

Psip1 (e-PCR), detects polymorphism
- UniSTS:497493

AU015605 (e-PCR)
- UniSTS:159596

NoName (e-PCR)
- UniSTS:234954

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables supercoiled DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription coactivator activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in chromatin remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA 5'-splice site recognition	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in response to heat	IDA Inferred from Direct Assay more info	PubMed
involved_in response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of euchromatin	ISO Inferred from Sequence Orthology more info
part_of heterochromatin	ISO Inferred from Sequence Orthology more info
located_in nuclear periphery	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: PC4 and SFRS1-interacting protein

Names: PC4 and SFRS1 interacting protein 2; dense fine speckles 70; lens epithelium-derived growth factor

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_001290527.2 → NP_001277456.1 PC4 and SFRS1-interacting protein isoform 2

See identical proteins and their annotated locations for NP_001277456.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate 3' exon structure, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AA177775, AI839843, AI843830, BC043079, BX682545, BY710824, CJ053610

Consensus CDS

CCDS71412.1

UniProtKB/Swiss-Prot

Q99JF8

Related

ENSMUSP00000102833.3, ENSMUST00000107215.9

Conserved Domains (1) summary

cd05834
Location:3 → 87

HDGF_related; The PWWP domain is an essential part of the Hepatoma Derived Growth Factor (HDGF) family of proteins, and is necessary for DNA binding by HDGF. This family of endogenous nuclear-targeted mitogens includes HRP (HDGF-related proteins 1, 2, 3, 4, or HPR1, ...
NM_001347143.2 → NP_001334072.1 PC4 and SFRS1-interacting protein isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AA177775, BG076985, BM945511, BP766700, BX682545, CA328141, CK626008

Consensus CDS

CCDS84749.1

UniProtKB/TrEMBL

A2BI12

Related

ENSMUSP00000102832.3, ENSMUST00000107214.9
NM_001355203.1 → NP_001342132.1 PC4 and SFRS1-interacting protein isoform 4

Status: VALIDATED

Source sequence(s)

AA177775, AI843830, BC043079, BX682545, BY710824, CD352945, CJ053610

Conserved Domains (2) summary

cd05834
Location:3 → 87

HDGF_related; The PWWP domain is an essential part of the Hepatoma Derived Growth Factor (HDGF) family of proteins, and is necessary for DNA binding by HDGF. This family of endogenous nuclear-targeted mitogens includes HRP (HDGF-related proteins 1, 2, 3, 4, or HPR1, ...

cl26407
Location:95 → 245

IF-2; Translation-initiation factor 2
NM_133948.6 → NP_598709.1 PC4 and SFRS1-interacting protein isoform 1

See identical proteins and their annotated locations for NP_598709.1

Status: VALIDATED

Description

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

Source sequence(s)

BC043079, BX682545, BY710824, CJ053610

Consensus CDS

CCDS18299.1

UniProtKB/Swiss-Prot

A2BI10, A2BI11, Q3TEJ7, Q3TTD7, Q3UTA1, Q80WQ7, Q99JF7, Q99JF8, Q99LR4, Q9CT03

Related

ENSMUSP00000030207.9, ENSMUST00000030207.15

Conserved Domains (2) summary

cd05834
Location:3 → 87

HDGF_related; The PWWP domain is an essential part of the Hepatoma Derived Growth Factor (HDGF) family of proteins, and is necessary for DNA binding by HDGF. This family of endogenous nuclear-targeted mitogens includes HRP (HDGF-related proteins 1, 2, 3, 4, or HPR1, ...

pfam11467
Location:347 → 448

LEDGF; Lens epithelium-derived growth factor (LEDGF)