Gene Gene information from NCBI Gene database.
Entrez ID 11168
Gene name PC4 and SRSF1 interacting protein 1
Gene symbol PSIP1
Synonyms (NCBI Gene)
DFS70LEDGFPAIPPSIP2p52p75
Chromosome 9
Chromosome location 9p22.3
miRNA miRNA information provided by mirtarbase database.
80
miRTarBase ID miRNA Experiments Reference
MIRT016293 hsa-miR-193b-3p Microarray 20304954
MIRT019773 hsa-miR-375 Microarray 20215506
MIRT020538 hsa-miR-155-5p Proteomics 18668040
MIRT023558 hsa-miR-1-3p Proteomics 18668040
MIRT023558 hsa-miR-1-3p Proteomics;Microarray 18668037
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
HDAC1 Unknown 23386123
SP1 Unknown 22019592;23386123
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000395 Process MRNA 5'-splice site recognition IDA 9885563
GO:0000791 Component Euchromatin ISS
GO:0000792 Component Heterochromatin IDA 12796494
GO:0003677 Function DNA binding IEA
GO:0003682 Function Chromatin binding IDA 20974633
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603620 9527 ENSG00000164985
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75475
Protein name PC4 and SFRS1-interacting protein (CLL-associated antigen KW-7) (Dense fine speckles 70 kDa protein) (DFS 70) (Lens epithelium-derived growth factor) (Transcriptional coactivator p75/p52)
Protein function Transcriptional coactivator involved in neuroepithelial stem cell differentiation and neurogenesis. Involved in particular in lens epithelial cell gene regulation and stress responses. May play an important role in lens epithelial to fiber cell
PDB 1Z9E , 2B4J , 2M16 , 2MSR , 2MTN , 2N3A , 3F9K , 3HPG , 3HPH , 3U88 , 3ZEH , 4FU6 , 5N88 , 5OYM , 5YI9 , 6EMO , 6EMP , 6EMQ , 6EMR , 6S01 , 6TRJ , 6TVM , 6ZV0 , 7OUF , 7OUG , 7OUH , 7PEL , 7Z1Z , 8CBN , 8CBQ , 8PC5 , 8PC6 , 8PEO , 8PEP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00855 PWWP 5 89 PWWP domain Domain
PF11467 LEDGF 349 450 Lens epithelium-derived growth factor (LEDGF) Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed at high level in the thymus. Expressed in fetal and adult brain. Expressed in neurons, but not astrocytes. Markedly elevated in fetal as compared to adult brain. In the adult brain, expressed in the subventr
Sequence
MTRDFKPGDLIFAKMKGYPHWPARVDEVPDGAVKPPTNKLPIFFFGTHETAFLGPKDIFP
YSENKEKYGKPNKRKGFNEGLWEIDNNPK
VKFSSQQAATKQSNASSDVEVEEKETSVSKE
DTDHEEKASNEDVTKAVDITTPKAARRGRKRKAEKQVETEEAGVVTTATASVNLKVSPKR
GRPAATEVKIPKPRGRPKMVKQPCPSESDIITEEDKSKKKGQEEKQPKKQPKKDEEGQKE
EDKPRKEPDKKEGKKEVESKRKNLAKTGVTSTSDSEEEGDDQEGEKKRKGGRNFQTAHRR
NMLKGQHEKEAADRKRKQEEQMETEQQNKDEGKKPEVKKVEKKRETSMDSRLQRIHAEIK
NSLKIDNLDVNRCIEALDELASLQVTMQQAQKHTEMITTLKKIRRFKVSQVIMEKSTMLY
NKFKNMFLVGEGDSVITQVLNKSLAEQRQH
EEANKTKDQGKKGPNKKLEKEQTGSKTLNG
GSDAQDGNQPQHNGESNEDSKDNHEASTKKKPSSEERETEISLKDSTLDN
Sequence length 530
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 16173964
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 17330099
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 17330099
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 19502791
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 15948150
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 26988706
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 17550129
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 22626591
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 15501396
★☆☆☆☆
Found in Text Mining only
Alopecia Areata Alopecia Areata BEFREE 15501396
★☆☆☆☆
Found in Text Mining only