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Aliases for KHSRP Gene

Aliases for KHSRP Gene

  • KH-Type Splicing Regulatory Protein 2 3 5
  • FUSE-Binding Protein 2 3 4
  • FUBP2 3 4
  • KSRP 3 4
  • P75 3 4
  • Far Upstream Element-Binding Protein 2 3
  • KH Type-Splicing Regulatory Protein 4
  • FUSE Binding Protein 2 2
  • FBP2 3

External Ids for KHSRP Gene

Previous GeneCards Identifiers for KHSRP Gene

  • GC19M006507
  • GC19M006481
  • GC19M006353
  • GC19M006364
  • GC19M006173

Summaries for KHSRP Gene

Entrez Gene Summary for KHSRP Gene

  • The KHSRP gene encodes a multifunctional RNA-binding protein implicated in a variety of cellular processes, including transcription, alternative pre-mRNA splicing, and mRNA localization (Min et al., 1997 [PubMed 9136930]; Gherzi et al., 2004 [PubMed 15175153]).[supplied by OMIM, Apr 2010]

GeneCards Summary for KHSRP Gene

KHSRP (KH-Type Splicing Regulatory Protein) is a Protein Coding gene. Diseases associated with KHSRP include Cerebellar Ataxia, Cayman Type. Among its related pathways are Gene Expression and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is FUBP1.

UniProtKB/Swiss-Prot for KHSRP Gene

  • Binds to the dendritic targeting element and may play a role in mRNA trafficking (By similarity). Part of a ternary complex that binds to the downstream control sequence (DCS) of the pre-mRNA. Mediates exon inclusion in transcripts that are subject to tissue-specific alternative splicing. May interact with single-stranded DNA from the far-upstream element (FUSE). May activate gene expression. Also involved in degradation of inherently unstable mRNAs that contain AU-rich elements (AREs) in their 3-UTR, possibly by recruiting degradation machinery to ARE-containing mRNAs.

Gene Wiki entry for KHSRP Gene

Additional gene information for KHSRP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KHSRP Gene

Genomics for KHSRP Gene

GeneHancer (GH) Regulatory Elements for KHSRP Gene

Promoters and enhancers for KHSRP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I006423 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 590.9 +0.1 141 3.2 HDGF PKNOX1 CLOCK ARNT ARID4B NEUROD1 SIN3A ZNF2 ZBTB7B IRF4 KHSRP GC19M006424 ZNF557 DUS3L ENSG00000267571 SNRPEP4 SAFB RANBP3 SAFB2 VMAC
GH19I006527 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 136.2 -105.8 -105833 6.2 YBX1 IRF4 E2F8 ZNF143 ZNF548 MCM3 SP3 MEF2D ZNF610 GLIS1 TNFSF9 ZNF557 KHSRP DUS3L SAFB2 SAFB SNRPEP4 ENSG00000267571 GTF2F1 RANBP3
GH19I005689 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 148.7 +732.7 732709 5 ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 ZC3H11A RPL36 DUS3L KHSRP ENSG00000267571 SAFB SNRPEP4 VMAC SAFB2 PTPRS KDM4B
GH19I006426 Enhancer 0.5 ENCODE 550.8 -1.6 -1644 0.2 ZNF148 CTCF ZBTB33 RAD21 GC19M006424 KHSRP SLC25A41
GH19I006270 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 62 +149.5 149459 10.7 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 MLLT1 DUS3L ZNF557 KHSRP SNRPEP4 SAFB ENSG00000267571 VMAC GPR108 RANBP3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KHSRP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KHSRP gene promoter:

Genomic Locations for KHSRP Gene

Genomic Locations for KHSRP Gene
chr19:6,413,104-6,424,811
(GRCh38/hg38)
Size:
11,708 bases
Orientation:
Minus strand
chr19:6,413,115-6,424,822
(GRCh37/hg19)

Genomic View for KHSRP Gene

Genes around KHSRP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KHSRP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KHSRP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KHSRP Gene

Proteins for KHSRP Gene

  • Protein details for KHSRP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92945-FUBP2_HUMAN
    Recommended name:
    Far upstream element-binding protein 2
    Protein Accession:
    Q92945
    Secondary Accessions:
    • O00301
    • Q59EZ9
    • Q5U4P6
    • Q9UNT5
    • Q9UQH5

    Protein attributes for KHSRP Gene

    Size:
    711 amino acids
    Molecular mass:
    73115 Da
    Quaternary structure:
    • Part of a ternary complex containing FUBP2, PTBP1, PTBP2 and HNRPH1 (PubMed:11003644). Interacts with PARN (PubMed:15175153). Interacts with PQBP1 (PubMed:21933836).
    SequenceCaution:
    • Sequence=AAC50892.1; Type=Frameshift; Positions=304, 309, 466, 473; Evidence={ECO:0000305}; Sequence=AAH85004.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KHSRP Gene

neXtProt entry for KHSRP Gene

Post-translational modifications for KHSRP Gene

  • Phosphorylation at Ser-193 leads to the unfolding of the unstable KH domain 1, creating a site for 14-3-3 YWHAZ binding, which promotes nuclear localization and impairs the RNA degradation function.
  • Ubiquitination at isoforms=109 and isoforms=488

No data available for DME Specific Peptides for KHSRP Gene

Domains & Families for KHSRP Gene

Gene Families for KHSRP Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for KHSRP Gene

Suggested Antigen Peptide Sequences for KHSRP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92945

UniProtKB/Swiss-Prot:

FUBP2_HUMAN :
  • KH domains KH 3 and KH 4 behave as independent binding modules and can interact with different regions of the AU-rich RNA targets of degradation.
  • Belongs to the KHSRP family.
Domain:
  • KH domains KH 3 and KH 4 behave as independent binding modules and can interact with different regions of the AU-rich RNA targets of degradation.
Family:
  • Belongs to the KHSRP family.
genes like me logo Genes that share domains with KHSRP: view

Function for KHSRP Gene

Molecular function for KHSRP Gene

GENATLAS Biochemistry:
K homology-type splicing regulatory protein,highly expressed in neural cells
UniProtKB/Swiss-Prot Function:
Binds to the dendritic targeting element and may play a role in mRNA trafficking (By similarity). Part of a ternary complex that binds to the downstream control sequence (DCS) of the pre-mRNA. Mediates exon inclusion in transcripts that are subject to tissue-specific alternative splicing. May interact with single-stranded DNA from the far-upstream element (FUSE). May activate gene expression. Also involved in degradation of inherently unstable mRNAs that contain AU-rich elements (AREs) in their 3-UTR, possibly by recruiting degradation machinery to ARE-containing mRNAs.

Phenotypes From GWAS Catalog for KHSRP Gene

Gene Ontology (GO) - Molecular Function for KHSRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding IEA,HDA 22658674
GO:0003729 mRNA binding IEA --
GO:0005515 protein binding IPI 16126846
genes like me logo Genes that share ontologies with KHSRP: view
genes like me logo Genes that share phenotypes with KHSRP: view

Animal Models for KHSRP Gene

MGI Knock Outs for KHSRP:

miRNA for KHSRP Gene

miRTarBase miRNAs that target KHSRP

Clone Products

  • Addgene plasmids for KHSRP

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KHSRP Gene

Localization for KHSRP Gene

Subcellular locations from UniProtKB/Swiss-Prot for KHSRP Gene

Nucleus. Cytoplasm. Note=A small proportion is also found in the cytoplasm of neuronal cell bodies and dendrites. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KHSRP gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KHSRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000178 colocalizes_with exosome (RNase complex) NAS 16126846
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with KHSRP: view

Pathways & Interactions for KHSRP Gene

genes like me logo Genes that share pathways with KHSRP: view

Pathways by source for KHSRP Gene

1 Cell Signaling Technology pathway for KHSRP Gene
1 BioSystems pathway for KHSRP Gene

SIGNOR curated interactions for KHSRP Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for KHSRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000375 RNA splicing, via transesterification reactions TAS 10911989
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006397 mRNA processing TAS,IEA --
GO:0006402 mRNA catabolic process IEA --
genes like me logo Genes that share ontologies with KHSRP: view

Drugs & Compounds for KHSRP Gene

(4) Drugs for KHSRP Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Resveratrol Approved, Experimental, Investigational Pharma Target Cyclooxygenase inhibitor 126

(2) Additional Compounds for KHSRP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KHSRP: view

Transcripts for KHSRP Gene

Unigene Clusters for KHSRP Gene

KH-type splicing regulatory protein:
Representative Sequences:

Clone Products

  • Addgene plasmids for KHSRP

Alternative Splicing Database (ASD) splice patterns (SP) for KHSRP Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17a ·
SP1:
SP2:
SP3: -
SP4: -
SP5: - - -
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 17b · 17c · 17d ^ 18a · 18b ^ 19 ^ 20a · 20b · 20c ^ 21a · 21b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - - -
SP11: - -
SP12: -
SP13:

Relevant External Links for KHSRP Gene

GeneLoc Exon Structure for
KHSRP
ECgene alternative splicing isoforms for
KHSRP

Expression for KHSRP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KHSRP Gene

Protein differential expression in normal tissues from HIPED for KHSRP Gene

This gene is overexpressed in Lymph node (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KHSRP Gene



Protein tissue co-expression partners for KHSRP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KHSRP Gene:

KHSRP

SOURCE GeneReport for Unigene cluster for KHSRP Gene:

Hs.727344

mRNA Expression by UniProt/SwissProt for KHSRP Gene:

Q92945-FUBP2_HUMAN
Tissue specificity: Detected in neural and non-neural cell lines.

Evidence on tissue expression from TISSUES for KHSRP Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Muscle(4.5)
  • Eye(3.3)
  • Intestine(2.3)
genes like me logo Genes that share expression patterns with KHSRP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for KHSRP Gene

Orthologs for KHSRP Gene

This gene was present in the common ancestor of animals.

Orthologs for KHSRP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KHSRP 33 34
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia KHSRP 34
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KHSRP 34
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KHSRP 33 34
  • 90.16 (n)
rat
(Rattus norvegicus)
Mammalia Khsrp 33
  • 87.92 (n)
mouse
(Mus musculus)
Mammalia Khsrp 33 16 34
  • 87.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KHSRP 34
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KHSRP 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia khsrp 33
  • 73.36 (n)
zebrafish
(Danio rerio)
Actinopterygii khsrp 33 34
  • 71.18 (n)
fruit fly
(Drosophila melanogaster)
Insecta Psi 34
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C12D8.1a 35
  • 38 (a)
C12D8.1b 35
  • 38 (a)
C36E6.1a 35
  • 35 (a)
C36E6.1b 35
  • 35 (a)
M01A10.1 35 34
  • 33 (a)
ZK418.9 35 34
  • 32 (a)
C12D8.1 34
  • 27 (a)
ManyToMany
C36E6.1 34
  • 26 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
ManyToMany
-- 34
  • 30 (a)
ManyToMany
-- 34
  • 21 (a)
ManyToMany
Species where no ortholog for KHSRP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KHSRP Gene

ENSEMBL:
Gene Tree for KHSRP (if available)
TreeFam:
Gene Tree for KHSRP (if available)

Paralogs for KHSRP Gene

Paralogs for KHSRP Gene

Pseudogenes.org Pseudogenes for KHSRP Gene

genes like me logo Genes that share paralogs with KHSRP: view

Variants for KHSRP Gene

Sequence variations from dbSNP and Humsavar for KHSRP Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000118096 -- 6,420,961(-) C/T intron_variant
rs1000193563 -- 6,421,197(-) T/C/G intron_variant
rs1000362447 -- 6,425,573(-) C/G upstream_transcript_variant
rs1000496135 -- 6,422,245(-) G/C intron_variant
rs1000640156 -- 6,412,692(-) A/C downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KHSRP Gene

Variant ID Type Subtype PubMed ID
nsv1072313 CNV deletion 25765185
nsv1118809 CNV deletion 24896259
nsv833727 CNV loss 17160897

Variation tolerance for KHSRP Gene

Residual Variation Intolerance Score: 8.27% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.66; 14.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KHSRP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KHSRP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KHSRP Gene

Disorders for KHSRP Gene

MalaCards: The human disease database

(1) MalaCards diseases for KHSRP Gene - From: DISEASES

Disorder Aliases PubMed IDs
cerebellar ataxia, cayman type
  • atcay
- elite association - COSMIC cancer census association via MalaCards
Search KHSRP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KHSRP

genes like me logo Genes that share disorders with KHSRP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KHSRP Gene

Publications for KHSRP Gene

  1. A new regulatory protein, KSRP, mediates exon inclusion through an intronic splicing enhancer. (PMID: 9136930) Min H … Black DL (Genes & development 1997) 2 3 4 22 58
  2. The far upstream element-binding proteins comprise an ancient family of single-strand DNA-binding transactivators. (PMID: 8940189) Davis-Smyth T … Levens D (The Journal of biological chemistry 1996) 2 3 4 22 58
  3. A KH domain RNA binding protein, KSRP, promotes ARE-directed mRNA turnover by recruiting the degradation machinery. (PMID: 15175153) Gherzi R … Chen CY (Molecular cell 2004) 3 4 22 58
  4. Cooperative assembly of an hnRNP complex induced by a tissue-specific homolog of polypyrimidine tract binding protein. (PMID: 11003644) Markovtsov V … Black DL (Molecular and cellular biology 2000) 3 4 22 58
  5. Mapping of the KHSRP gene to a region of conserved synteny on human chromosome 19p13.3 and mouse chromosome 17. (PMID: 10087204) Ring HZ … Francke U (Genomics 1999) 3 4 22 58

Products for KHSRP Gene

Sources for KHSRP Gene

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