PSIP1 (PC4 and SFRS1 interacting protein 1)

2007-03-01   Cristina Morerio  , Claudio Panarello  

Dipartimento di Ematologia ed Oncologia Pediatrica, IRCCS Istituto Giannina Gaslini, Largo G. Gaslini 5, 16147 Genoa, Italy

Identity

HGNC
PSIP1
LOCATION
9p22.3
LOCUSID
11168
ALIAS
DFS70,LEDGF,PAIP,PSIP2,p52,p75
FUSION GENES
Show Gene Fusions

DNA/RNA

Description

The gene contains at least 15 exons and 14 introns.

Transcription

Two alternative splice variants: p75 and p52.

Proteins

Description

530 amino acids (p75), 333 amino acids (p52); N-term - PWWP (proline-tryptophan-tryptophan-proline) domain   NLS (nuclear localization signal)   AT-hook-like   Coiled coil   IBD (integrase binding domain)   HTH1 (helix-turn-helix DNA binding motif)   HTH2   C-term.

Expression

Expression of PSIP1 has been reported to be increased in human breast and bladder cancer, prostate tumorsand benign prostate hyperplasia.

Localisation

nuclear.

Function

Transcriptional regulation of stress-associated genes, mRNA splicing and cell survival. The involvement of PSIP1 (LEDGF) has been reported in human immunodeficiency virus type-1 (HIV-1) integration, autoimmune disorders, and neurogenesis. Recent data reveal LEDGF as an oncogenic protein that controls a caspase-independent lysosomal cell death pathway.

Homology

PSIP1 belongs to the hepatoma-derived growth factor (HDGF) family of proteins that contain a well conserved N-terminal amino acid sequence known as the HATH (homologous to amino terminus of HDGF) region.

Implicated in

Entity name
t(9;11)(p22;p15) NUP98-PSIP1
Note
acute non lymphoblastic leukemia (AML), one case of transformed .
Hybrid gene
5NUP98 - 3PSIP1.
Fusion protein
fuses the GLFG repeat domains of NUP98 to the COOH-terminus of PSIP1.

Bibliography

Pubmed IDLast YearTitleAuthors

Other Information

Locus ID:

NCBI: 11168
MIM: 603620
HGNC: 9527
Ensembl: ENSG00000164985

Variants:

dbSNP: 11168
ClinVar: 11168
TCGA: ENSG00000164985
COSMIC: PSIP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164985ENST00000380715O75475
ENSG00000164985ENST00000380716O75475
ENSG00000164985ENST00000380733O75475
ENSG00000164985ENST00000380738O75475
ENSG00000164985ENST00000397519O75475
ENSG00000164985ENST00000481862V9GYT7

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
HIV Life CycleREACTOMER-HSA-162587
Early Phase of HIV Life CycleREACTOMER-HSA-162594
Integration of provirusREACTOMER-HSA-162592
Integration of viral DNA into host genomic DNAREACTOMER-HSA-175567
2-LTR circle formationREACTOMER-HSA-164843
Autointegration results in viral DNA circlesREACTOMER-HSA-177539
Host Interactions of HIV factorsREACTOMER-HSA-162909
Interactions of Vpr with host cellular proteinsREACTOMER-HSA-176033
Vpr-mediated nuclear import of PICsREACTOMER-HSA-180910
APOBEC3G mediated resistance to HIV-1 infectionREACTOMER-HSA-180689

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381915782024PSIP1/LEDGF reduces R-loops at transcription sites to maintain genome integrity.1
381915782024PSIP1/LEDGF reduces R-loops at transcription sites to maintain genome integrity.1
342256362022The LncRNA MIR155HG is Upregulated by SP1 in Melanoma Cells and Drives Melanoma Progression via Modulating the MiR-485-3p/PSIP1 Axis.3
342256362022The LncRNA MIR155HG is Upregulated by SP1 in Melanoma Cells and Drives Melanoma Progression via Modulating the MiR-485-3p/PSIP1 Axis.3
334779702021Unlike Its Paralog LEDGF/p75, HRP-2 Is Dispensable for MLL-R Leukemogenesis but Important for Leukemic Cell Survival.4
340708552021LEDGF/p75 Is Required for an Efficient DNA Damage Response.12
346348122021Modulation of the intrinsic chromatin binding property of HIV-1 integrase by LEDGF/p75.9
346857042021The LEDGF/p75 Integrase Binding Domain Interactome Contributes to the Survival, Clonogenicity, and Tumorsphere Formation of Docetaxel-Resistant Prostate Cancer Cells.8
334779702021Unlike Its Paralog LEDGF/p75, HRP-2 Is Dispensable for MLL-R Leukemogenesis but Important for Leukemic Cell Survival.4
340708552021LEDGF/p75 Is Required for an Efficient DNA Damage Response.12
346348122021Modulation of the intrinsic chromatin binding property of HIV-1 integrase by LEDGF/p75.9
346857042021The LEDGF/p75 Integrase Binding Domain Interactome Contributes to the Survival, Clonogenicity, and Tumorsphere Formation of Docetaxel-Resistant Prostate Cancer Cells.8
318192772020Structure of H3K36-methylated nucleosome-PWWP complex reveals multivalent cross-gyre binding.33
318192772020Structure of H3K36-methylated nucleosome-PWWP complex reveals multivalent cross-gyre binding.33
291667582019Clinical significance of anti-dense fine speckled 70 antibody in patients with fibromyalgia.6

Citation

Cristina Morerio ; Claudio Panarello

PSIP1 (PC4 and SFRS1 interacting protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-03-01

Online version: http://atlasgeneticsoncology.org/gene/405/gene-explorer/js/lib/bootstrap.min.js