Basic information
Entrez ID Official symbol Synonyms Description Location Type of protein External annotation
4904 YBX1 BP-8, CBF-A, CSDA2, CSDB, DBPB, EFI-A, MDR-NF1, NSEP-1, NSEP1, YB-1, YB1 Y-box binding protein 1 1p34.2 protein-coding Genecard
Summary
uniprot_summary refseq_summary
Mediates pre-mRNA alternative splicing regulation. Binds to splice sites in pre-mRNA and regulates splice site selection. Binds and stabilizes cytoplasmic mRNA. Contributes to the regulation of translation by modulating the interaction between the mRNA and eukaryotic initiation factors (By similarity). Regulates the transcription of numerous genes. Its transcriptional activity on the multidrug resistance gene MDR1 is enhanced in presence of the APEX1 acetylated form at Lys-6 and Lys-7. Binds to promoters that contain a Y-box (5-CTGATTGGCCAA-3), such as MDR1 and HLA class II genes. Promotes separation of DNA strands that contain mismatches or are modified by cisplatin. Has endonucleolytic activity and can introduce nicks or breaks into double-stranded DNA (in vitro). May play a role in DNA repair. Component of the CRD-mediated complex that promotes MYC mRNA stability. Binds preferentially to the 5-[CU]CUGCG-3 motif in vitro.|The secreted form acts as an extracellular mitogen and stimulates cell migration and proliferation. This gene encodes a highly conserved cold shock domain protein that has broad nucleic acid binding properties. The encoded protein functions as both a DNA and RNA binding protein and has been implicated in numerous cellular processes including regulation of transcription and translation, pre-mRNA splicing, DNA reparation and mRNA packaging. This protein is also a component of messenger ribonucleoprotein (mRNP) complexes and may have a role in microRNA processing. This protein can be secreted through non-classical pathways and functions as an extracellular mitogen. Aberrant expression of the gene is associated with cancer proliferation in numerous tissues. This gene may be a prognostic marker for poor outcome and drug resistance in certain cancers. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on multiple chromosomes.
Assessment table
Caregory Description Value Value range ( Low - High ) Comment
PLI The probability of being loss-of-function (LoF) intolerant 0.991 [0, ..., 1] Genes with high pLI scores (pLI ≥ 0.9) are extremely LoF intolerant, whereby genes with low pLI scores (pLI ≤ 0.1) are LoF tolerant. The score is calculated based on high-quality exome sequence data (ExAC) for 60,706 individuals of diverse ethnicities.
Haploinsufficiency (HI) score rank Predicted probability of exhibiting haploinsufficiency [100, ..., 1] High ranks (e.g. 0-10%) indicate a gene is more likely to exhibit haploinsufficiency, low ranks (e.g. 90-100%) indicate a gene is more likely to NOT exhibit haploinsufficiency (DECIPHER, PMID: 20976243). haploinsufficiency means a single functional copy of a gene is insufficient to maintain its normal function and is extremely intolerant of LoF variation.
Gene brain expressed Queried gene is expressed in brain tissues True [False, True] The gene expression data are extracted from GTEx v7 and BrainSpan. A gene with the expression value of (log 2 based (TPM+1)) at least 1 TPM/RPKM/FPKM in one or more tissues related to the brain is considered brain-expressed.
Protein brain expressed Queried protein is expressed in brain tissues True [False, True] The protein expression data are extracted from ProteomicsDB (v2018.09). A protein with the expression value of (log based 10 (iBAQ intensity)) at least 0.5 in one or more tissues related to the brain is considered brain-expressed protein.
Carrying LoF DNMs Number of loss-of-function DNMs hit the queried gene 0
(Case)
[0, ..., 67] with average of 0.160 Loss of function (LoF) mutations include frameshift indels, nonsense (stop-gained) and splice-site mutations, which can result in the gene product having less or no function and can have deleterious consequences.
0
(Control)
[0, ..., 6] with average of 0.044
Carrying missense DNMs Number of missense DNMs hit the queried gene 1
(Case)
[0, ..., 55] with average of 0.846 Missense mutations can result in changes in protein sequences, but are commonly considered to have less deleterious impacts than LoF mutations.
0
(Control)
[0, ..., 21] with average of 0.300
FMRP binding targets FMRP inteacting parters False [False, True] FMRP loss of function causes Fragile X syndrome (FXS). The binding targets identified crosslinking immunoprecipitation (HITS-CLIP) in mouse brains (PMID:21784246). Many FMRP targets are among genes implicated in different neuropsychiatric diseases, such as autism, schizophrenia.
Postsynaptic density (PSD) Protein associates with postsynaptic membranes of excitatory synapses False [False, True] Abnormalities with PSD proteins are linked to various neuropsychiatric diseases including neurodevelopmental disorders.
Human essential genes - True [False, True] Genes are thought to be critical for human survival.