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Aliases for KHDRBS1 Gene

Aliases for KHDRBS1 Gene

  • KH RNA Binding Domain Containing, Signal Transduction Associated 1 2 3 5
  • Src-Associated In Mitosis 68 KDa Protein 2 3 4
  • P21 Ras GTPase-Activating Protein-Associated P62 3 4
  • GAP-Associated Tyrosine Phosphoprotein P62 2 4
  • Sam68 3 4
  • P68 3 4
  • KH Domain-Containing, RNA-Binding, Signal Transduction-Associated Protein 1 3
  • KH Domain Containing, RNA Binding, Signal Transduction Associated 1 3
  • GAP-Associated Tyrosine Phosphoprotein P62 (Sam68) 3
  • P62 3

External Ids for KHDRBS1 Gene

Previous GeneCards Identifiers for KHDRBS1 Gene

  • GC01P032294
  • GC01P031467
  • GC01P031906
  • GC01P032150
  • GC01P032479
  • GC01P030596

Summaries for KHDRBS1 Gene

Entrez Gene Summary for KHDRBS1 Gene

  • This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative splicing, cell cycle regulation, RNA 3'-end formation, tumorigenesis, and regulation of human immunodeficiency virus gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

GeneCards Summary for KHDRBS1 Gene

KHDRBS1 (KH RNA Binding Domain Containing, Signal Transduction Associated 1) is a Protein Coding gene. Among its related pathways are Translational Control and Signaling by PTK6. GO annotations related to this gene include nucleic acid binding and identical protein binding. An important paralog of this gene is KHDRBS2.

UniProtKB/Swiss-Prot for KHDRBS1 Gene

  • Recruited and tyrosine phosphorylated by several receptor systems, for example the T-cell, leptin and insulin receptors. Once phosphorylated, functions as an adapter protein in signal transduction cascades by binding to SH2 and SH3 domain-containing proteins. Role in G2-M progression in the cell cycle. Represses CBP-dependent transcriptional activation apparently by competing with other nuclear factors for binding to CBP. Also acts as a putative regulator of mRNA stability and/or translation rates and mediates mRNA nuclear export. Positively regulates the association of constitutive transport element (CTE)-containing mRNA with large polyribosomes and translation initiation. According to some authors, is not involved in the nucleocytoplasmic export of unspliced (CTE)-containing RNA species according to (PubMed:22253824). RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds to RNA containing 5-[AU]UAA-3 as a bipartite motif spaced by more than 15 nucleotides. Binds poly(A). Can regulate CD44 alternative splicing in a Ras pathway-dependent manner (By similarity). In cooperation with HNRNPA1 modulates alternative splicing of BCL2L1 by promoting splicing toward isoform Bcl-X(S), and of SMN1 (PubMed:17371836, PubMed:20186123). Can regulate alternative splicing of NRXN1 and NRXN3 in the laminin G-like domain 6 containing the evolutionary conserved neurexin alternative spliced segment 4 (AS4) involved in neurexin selective targeting to postsynaptic partners. In a neuronal activity-dependent manner cooperates synergistically with KHDRBS2/SLIM-1 in regulation of NRXN1 exon skipping at AS4. The cooperation with KHDRBS2/SLIM-1 is antagonistic for regulation of NXRN3 alternative splicing at AS4 (By similarity).

  • Isoform 3, which is expressed in growth-arrested cells only, inhibits S phase.

Gene Wiki entry for KHDRBS1 Gene

Additional gene information for KHDRBS1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KHDRBS1 Gene

Genomics for KHDRBS1 Gene

Regulatory Elements for KHDRBS1 Gene

Enhancers for KHDRBS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H031924 2.1 FANTOM5 Ensembl ENCODE dbSUPER 96.5 -77.9 -77862 22 MLX ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 TXLNA SNRNP40 KHDRBS1 RBBP4 ENSG00000229447 TSSK3 ZBTB8A TMEM39B PUM1 EIF3I
GH01H032262 1.8 FANTOM5 Ensembl ENCODE dbSUPER 72.6 +251.7 251694 4 ZNF493 ZFP64 RARA SCRT2 ZNF654 ZNF680 ZC3H11A CEBPB OVOL3 REST TXLNA RBBP4 KHDRBS1 SNRNP40 TMEM39B ZBTB8A ZNF362 DCDC2B TSSK3 S100PBP
GH01H031951 2.1 FANTOM5 Ensembl ENCODE dbSUPER 51.5 -57.6 -57624 9 HDGF FOXA2 PKNOX1 ARNT ARID4B SIN3A DMAP1 YBX1 YY1 ZNF766 SNRNP40 KHDRBS1 RBBP4 TMEM39B TXLNA ZBTB8A IQCC ENSG00000224066 TSSK3 MTMR9LP
GH01H032813 1.7 FANTOM5 ENCODE dbSUPER 56.8 +803.5 803548 7 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A RBBP4 KHDRBS1 ZBTB8A TXLNA TMEM39B S100PBP KPNA6 ZSCAN20 TSSK3 FAM229A
GH01H032289 1.2 ENCODE 68.4 +277.6 277626 3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SNRNP40 RBBP4 KHDRBS1 TXLNA TSSK3 TMEM39B S100PBP ZBTB8A FAM229A DCDC2B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KHDRBS1 on UCSC Golden Path with GeneCards custom track

Promoters for KHDRBS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000004303 806 2601 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for KHDRBS1 Gene

Chromosome:
1
Start:
32,013,694 bp from pter
End:
32,060,859 bp from pter
Size:
47,166 bases
Orientation:
Plus strand

Genomic View for KHDRBS1 Gene

Genes around KHDRBS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KHDRBS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KHDRBS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KHDRBS1 Gene

Proteins for KHDRBS1 Gene

  • Protein details for KHDRBS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07666-KHDR1_HUMAN
    Recommended name:
    KH domain-containing, RNA-binding, signal transduction-associated protein 1
    Protein Accession:
    Q07666
    Secondary Accessions:
    • D3DPP3
    • Q6PJX7
    • Q8NB97
    • Q99760

    Protein attributes for KHDRBS1 Gene

    Size:
    443 amino acids
    Molecular mass:
    48227 Da
    Quaternary structure:
    • Self-associates to form homooligomers when bound to RNA, oligomerization appears to be limited when binding to proteins; dimerization increases RNA affinity (PubMed:26758068, PubMed:20610388). Interacts with KHDRBS3/SLIM-2 (PubMed:10332027). Interacts with KHDRBS2/SLIM-1; heterooligomer formation of KHDRBS family proteins may modulate RNA substrate specificity (By similarity). Interacts with RASA1, LCK, FYN, PTPN6, PLCG1, GRB2, CBL, JAK3, PIK3R, STAT3, APC, HNRNPA1 (PubMed:1374686, PubMed:9045636, PubMed:10332027, PubMed:11585385, PubMed:17371836, PubMed:22000517). Interacts with PTK6 (via SH3 and SH2 domains) (PubMed:10913193). Forms a complex with ILF2, ILF3, YLPM1, RBMX, NCOA5 and PPP1CA (PubMed:17890166). Does not interact with TPR (PubMed:22253824). Interacts with RBMY1A1, PRMT1 (By similarity). Binds WBP4/FBP21 (via WW domains), FNBP4/FBP30 (via WW domains). Interacts (via Arg/Gly-rich-flanked Pro-rich regions) with FYN (via the SH3 domain) (By similarity).
    SequenceCaution:
    • Sequence=AAH10132.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KHDRBS1 Gene

    Alternative splice isoforms for KHDRBS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KHDRBS1 Gene

Post-translational modifications for KHDRBS1 Gene

  • Acetylated. Positively correlates with ability to bind RNA.
  • Arginine methylation is required for nuclear localization. Also can affect interaction with other proteins. Inhibits interaction with Src-like SH3 domains, but not interaction with WW domains of WBP4/FBP21 AND FNBP4/FBP30.
  • Tyrosine phosphorylated by several non-receptor tyrosine kinases, LCK, FYN and JAK3. Negatively correlates with ability to bind RNA but required for many interactions with proteins. Phosphorylation by PTK6 negatively regulates its RNA binding ability. Phosphorylation by PTK6 at Tyr-440 dictates the nulear localization of KHDRBS1. Phosphorylation at Tyr-387 disrupts interaction with APC. Phosphorylation at tyrosine residues by FYN inverts activity on modulation of BCL2L1 alternative splicing.
  • Ubiquitination at posLast=185185 and posLast=432432
  • Modification sites at PhosphoSitePlus

Other Protein References for KHDRBS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for KHDRBS1 (KHDRBS1)
  • Abcam antibodies for KHDRBS1
  • Cloud-Clone Corp. Antibodies for KHDRBS1

No data available for DME Specific Peptides for KHDRBS1 Gene

Domains & Families for KHDRBS1 Gene

Gene Families for KHDRBS1 Gene

Suggested Antigen Peptide Sequences for KHDRBS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q07666

UniProtKB/Swiss-Prot:

KHDR1_HUMAN :
  • The KH domain is required for binding to RNA.
  • Belongs to the KHDRBS family.
Domain:
  • The KH domain is required for binding to RNA.
  • The Pro-rich domains are flanked by Arg/Gly-rich motifs which can be asymmetric dimethylated on arginine residues to give the DMA/Gly-rich regions. Selective methylation on these motifs can modulate protein-protein interactions (By similarity).
Family:
  • Belongs to the KHDRBS family.
genes like me logo Genes that share domains with KHDRBS1: view

Function for KHDRBS1 Gene

Molecular function for KHDRBS1 Gene

UniProtKB/Swiss-Prot Function:
Recruited and tyrosine phosphorylated by several receptor systems, for example the T-cell, leptin and insulin receptors. Once phosphorylated, functions as an adapter protein in signal transduction cascades by binding to SH2 and SH3 domain-containing proteins. Role in G2-M progression in the cell cycle. Represses CBP-dependent transcriptional activation apparently by competing with other nuclear factors for binding to CBP. Also acts as a putative regulator of mRNA stability and/or translation rates and mediates mRNA nuclear export. Positively regulates the association of constitutive transport element (CTE)-containing mRNA with large polyribosomes and translation initiation. According to some authors, is not involved in the nucleocytoplasmic export of unspliced (CTE)-containing RNA species according to (PubMed:22253824). RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds to RNA containing 5-[AU]UAA-3 as a bipartite motif spaced by more than 15 nucleotides. Binds poly(A). Can regulate CD44 alternative splicing in a Ras pathway-dependent manner (By similarity). In cooperation with HNRNPA1 modulates alternative splicing of BCL2L1 by promoting splicing toward isoform Bcl-X(S), and of SMN1 (PubMed:17371836, PubMed:20186123). Can regulate alternative splicing of NRXN1 and NRXN3 in the laminin G-like domain 6 containing the evolutionary conserved neurexin alternative spliced segment 4 (AS4) involved in neurexin selective targeting to postsynaptic partners. In a neuronal activity-dependent manner cooperates synergistically with KHDRBS2/SLIM-1 in regulation of NRXN1 exon skipping at AS4. The cooperation with KHDRBS2/SLIM-1 is antagonistic for regulation of NXRN3 alternative splicing at AS4 (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform 3, which is expressed in growth-arrested cells only, inhibits S phase.

Gene Ontology (GO) - Molecular Function for KHDRBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding TAS 1374686
GO:0003723 RNA binding IDA 1374686
GO:0005070 SH3/SH2 adaptor activity IPI 9045636
GO:0005515 protein binding IPI 7516469
genes like me logo Genes that share ontologies with KHDRBS1: view
genes like me logo Genes that share phenotypes with KHDRBS1: view

Animal Models for KHDRBS1 Gene

MGI Knock Outs for KHDRBS1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KHDRBS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KHDRBS1 Gene

Localization for KHDRBS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KHDRBS1 Gene

Nucleus. Membrane.

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 KHDRBS1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 3
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KHDRBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 1374686
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA,IEA 1374686
genes like me logo Genes that share ontologies with KHDRBS1: view

Pathways & Interactions for KHDRBS1 Gene

genes like me logo Genes that share pathways with KHDRBS1: view

Pathways by source for KHDRBS1 Gene

1 Cell Signaling Technology pathway for KHDRBS1 Gene
1 BioSystems pathway for KHDRBS1 Gene

SIGNOR curated interactions for KHDRBS1 Gene

Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for KHDRBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006397 mRNA processing TAS,IEA --
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with KHDRBS1: view

Drugs & Compounds for KHDRBS1 Gene

(9) Drugs for KHDRBS1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for KHDRBS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KHDRBS1: view

Transcripts for KHDRBS1 Gene

Unigene Clusters for KHDRBS1 Gene

KH domain containing, RNA binding, signal transduction associated 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KHDRBS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KHDRBS1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e ^ 10 ^ 11
SP1: - - -
SP2: -
SP3:
SP4: - -
SP5: - - - - -

Relevant External Links for KHDRBS1 Gene

GeneLoc Exon Structure for
KHDRBS1
ECgene alternative splicing isoforms for
KHDRBS1

Expression for KHDRBS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KHDRBS1 Gene

Protein differential expression in normal tissues from HIPED for KHDRBS1 Gene

This gene is overexpressed in Lymph node (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KHDRBS1 Gene



Protein tissue co-expression partners for KHDRBS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KHDRBS1 Gene:

KHDRBS1

SOURCE GeneReport for Unigene cluster for KHDRBS1 Gene:

Hs.445893

mRNA Expression by UniProt/SwissProt for KHDRBS1 Gene:

Q07666-KHDR1_HUMAN
Tissue specificity: Ubiquitously expressed in all tissue examined. Isoform 1 is expressed at lower levels in brain, skeletal muscle, and liver whereas isoform 3 is intensified in skeletal muscle and in liver.

Evidence on tissue expression from TISSUES for KHDRBS1 Gene

  • Nervous system(4.5)
  • Liver(4.3)
  • Lung(3.1)
  • Kidney(2.2)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with KHDRBS1: view

Primer Products

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 KHDRBS1 Gene

Orthologs for KHDRBS1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for KHDRBS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KHDRBS1 33 34
  • 99.92 (n)
dog
(Canis familiaris)
Mammalia KHDRBS1 33 34
  • 94.88 (n)
cow
(Bos Taurus)
Mammalia KHDRBS1 33 34
  • 94.66 (n)
rat
(Rattus norvegicus)
Mammalia Khdrbs1 33
  • 90.59 (n)
mouse
(Mus musculus)
Mammalia Khdrbs1 16 34 33
  • 90.52 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 90 (a)
OneToMany
-- 34
  • 90 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia KHDRBS1 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves KHDRBS1 33 34
  • 78.3 (n)
lizard
(Anolis carolinensis)
Reptilia KHDRBS1 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia khdrbs1 33
  • 72.25 (n)
Str.20538 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398660 33
zebrafish
(Danio rerio)
Actinopterygii khdrbs1b 33 34
  • 65.11 (n)
khdrbs1a 34
  • 61 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG10384 35 34
  • 59 (a)
qkr54B 35 34
  • 51 (a)
qkr58E-1 35 34
  • 48 (a)
CG3927 35 34
  • 43 (a)
CG3875 35
  • 41 (a)
qkr58E-3 35 34
  • 41 (a)
CG4021 35 34
  • 40 (a)
qkr58E-2 35 34
  • 36 (a)
nsr 34
  • 29 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea K07H8.9 34
  • 25 (a)
ManyToMany
Y69A2AR.32 34
  • 23 (a)
ManyToMany
Y57G11C.36 34
  • 21 (a)
ManyToMany
F54D1.1 34
  • 20 (a)
ManyToMany
B0280.17 34
  • 18 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSL5 34
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11338 34
  • 35 (a)
OneToMany
Species where no ortholog for KHDRBS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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 KHDRBS1 Gene

ENSEMBL:
Gene Tree for KHDRBS1 (if available)
TreeFam:
Gene Tree for KHDRBS1 (if available)

Paralogs for KHDRBS1 Gene

Paralogs for KHDRBS1 Gene

(2) SIMAP similar genes for KHDRBS1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KHDRBS1: view

Variants for KHDRBS1 Gene

Sequence variations from dbSNP and Humsavar for KHDRBS1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000043721 -- 32,032,897(+) ATTGG(G/T)CAGAC intron-variant
rs1000108684 -- 32,053,405(+) AATTA(A/G)TTACA intron-variant
rs1000149128 -- 32,020,616(+) TGCAA(A/T)AAAAA intron-variant
rs1000185792 -- 32,035,540(+) AGTGA(C/G)GCTAT intron-variant
rs1000188658 -- 32,042,149(+) TTTGG(C/G)AACAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KHDRBS1 Gene

Variant ID Type Subtype PubMed ID
nsv1009817 CNV gain 25217958
nsv834591 CNV loss 17160897

Variation tolerance for KHDRBS1 Gene

Residual Variation Intolerance Score: 18.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.53; 11.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KHDRBS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KHDRBS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KHDRBS1 Gene

Disorders for KHDRBS1 Gene

Relevant External Links for KHDRBS1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KHDRBS1

No disorders were found for KHDRBS1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KHDRBS1 Gene

Publications for KHDRBS1 Gene

  1. Molecular cloning and nucleic acid binding properties of the GAP-associated tyrosine phosphoprotein p62. (PMID: 1374686) Wong G … McCormick F (Cell 1992) 2 3 4 22 60
  2. The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy. (PMID: 20186123) Pedrotti S … Sette C (The EMBO journal 2010) 3 4 22 60
  3. The RNA-binding protein Sam68 modulates the alternative splicing of Bcl-x. (PMID: 17371836) Paronetto MP … Sette C (The Journal of cell biology 2007) 3 4 22 60
  4. Tyrosine phosphorylation of sam68 by breast tumor kinase regulates intranuclear localization and cell cycle progression. (PMID: 16179349) Lukong KE … Richard S (The Journal of biological chemistry 2005) 3 4 22 60
  5. The RNA binding protein Sam68 is acetylated in tumor cell lines, and its acetylation correlates with enhanced RNA binding activity. (PMID: 15021911) Babic I … Fujita DJ (Oncogene 2004) 3 4 22 60

Products for KHDRBS1 Gene

Sources for KHDRBS1 Gene

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