Aliases for KHDRBS1 Gene
Aliases for KHDRBS1 Gene
External Ids for KHDRBS1 Gene
- HGNC: 18116
- Entrez Gene: 10657
- Ensembl: ENSG00000121774
- OMIM: 602489
- UniProtKB: Q07666
Previous GeneCards Identifiers for KHDRBS1 Gene
- GC01P032294
- GC01P031467
- GC01P031906
- GC01P032150
- GC01P032479
- GC01P030596
Summaries 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. Diseases associated with KHDRBS1 include X-Linked Hereditary Ataxia and Human Immunodeficiency Virus Type 1. Among its related pathways are Translational Control and Signaling by PTK6. Gene Ontology (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.
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
GeneHancer (GH) Regulatory Elements for KHDRBS1 Gene
Promoters and enhancers for KHDRBS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around KHDRBS1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the KHDRBS1 gene promoter:
-
- STAT3
- Sp1
- c-Jun
- c-Fos
- AP-1
- N-Myc
- FOXL1
- STAT1
- HFH-1
Regulatory Element Products
Genomic Locations for KHDRBS1 Gene
Genomic Locations for KHDRBS1 Gene
- chr1:32,013,694-32,060,859
- (GRCh38/hg38)
- Size:
- 47,166 bases
- Orientation:
- Plus strand
- chr1:32,479,430-32,526,451
- (GRCh37/hg19)
- Size:
- 47,022 bases
- Orientation:
- Plus strand
Genomic View for KHDRBS1 Gene
Genes around KHDRBS1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p35.2 by Entrez Gene
- 1p35.2 by HGNC
- 1p35.2 by Ensembl
KHDRBS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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). Interacts with the non-receptor tyrosine kinase SRMS; the interaction leads to phosphorylation of KHDRBS1 (PubMed:29496907).
- SequenceCaution:
-
- Sequence=AAH10132.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
Protein Expression for KHDRBS1 Gene
Post-translational modifications for KHDRBS1 Gene
- Tyrosine phosphorylated by several non-receptor tyrosine kinases including LCK, FYN and JAK3. Also tyrosine phosphorylated by the non-receptor tyrosine kinase SRMS in an EGF-dependent manner (PubMed:29496907). 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 nuclear 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.
- 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.
- Ubiquitination at Lys432 and Lys185
- Modification sites at PhosphoSitePlus
Other Protein References for KHDRBS1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for KHDRBS1 (SAM68)
-
Custom Antibody ServicesOriGene Antibodies for KHDRBS1
- Novus Biologicals Antibodies for KHDRBS1
-
Abcam antibodies for KHDRBS1
- Invitrogen Antibodies for KHDRBS1 (AFLGC-KHDRBS1)
- antibodies-online: Search results for 128 available KHDRBS1 Antibodies ranked by validation data
- Compare Top KHDRBS1 Antibodies
-
Recommended
- 82 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 3 IHC (p) Antibodies (anti-human)
- 3 IP Antibodies (anti-human)
- 2 FACS Antibodies (anti-human)
- 49 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 25 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- GeneTex KHDRBS1 Antibody for KHDRBS1
-
Santa Cruz Biotechnology (SCBT) Antibodies for KHDRBS1
Protein Products
-
OriGene Purified Proteins for KHDRBS1
- Search Origene for MassSpec and Protein Over-expression Lysates for KHDRBS1
- Origene Custom Protein Services for KHDRBS1
- Search GeneTex for Proteins for KHDRBS1
-
Abcam proteins for KHDRBS1
Assay Products
No data available for DME Specific Peptides for KHDRBS1 Gene
Domains & Families for KHDRBS1 Gene
Gene Families for KHDRBS1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for KHDRBS1 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for KHDRBS1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q07666UniProtKB/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.
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.
Phenotypes From GWAS Catalog 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 |
Phenotypes for KHDRBS1 Gene
- MGI mutant phenotypes for KHDRBS1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for KHDRBS1:
-
- Increased shRNA abundance (Z-score > 2)
- Decreased HIV-1 infection
- Decreased viability in esophageal squamous lineage
- Increased Nanog expression
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased shRNA abundance (Z-score < -2)
- Mildly decreased CFP-tsO45G cell surface transport
- Increased viability
Animal Models for KHDRBS1 Gene
- MGI Knock Outs for KHDRBS1:
-
- Khdrbs1 Khdrbs1<tm1Rchd>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for KHDRBS1
-
CRISPR Products
-
OriGene CRISPR knockouts for KHDRBS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KHDRBS1
- genomics-online: gRNA clones - Search results for 106 available KHDRBS1 gene related products
- Overview of 106 available KHDRBS1 gene related products
- Applied Biological Materials CRISPR for KHDRBS1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KHDRBS1
- GenScript: Design CRISPR guide RNA sequences for KHDRBS1
miRNA for KHDRBS1 Gene
- miRTarBase miRNAs that target KHDRBS1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KHDRBS1
- Browse OriGene Inhibitory RNA Products For KHDRBS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KHDRBS1
- genomics-online: shRNA clones - Search results for 106 available KHDRBS1 gene related products
- Overview of 106 available KHDRBS1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for KHDRBS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KHDRBS1
- Applied Biological Materials Clones for KHDRBS1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for KHDRBS1
No data available for Enzyme Numbers (IUBMB) , 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. Cytoplasm. Membrane. Note=Predominantly located in the nucleus but also located partially in the cytoplasm. {ECO:0000269 PubMed:29496907}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 3 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 1374686 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 29496907 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0016020 | membrane | IEA,IDA | 1374686 |
Pathways & Interactions for KHDRBS1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by PTK6 | ||
| 2 | Translational Control | ||
| 3 | Signaling by GPCR | ||
| 4 | Prolactin Signaling Pathway | ||
Pathways by source for KHDRBS1 Gene
1 BioSystems pathway for KHDRBS1 Gene
3 Reactome pathways for KHDRBS1 Gene
1 Cell Signaling Technology pathway for KHDRBS1 Gene
Interacting Proteins for KHDRBS1 Gene
Selected Interacting proteins:
Q07666-KHDR1_HUMAN
ENSP00000313829
for KHDRBS1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for KHDRBS1
| 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 | IEA,TAS | -- |
| GO:0007049 | cell cycle | IEA | -- |
Transcripts for KHDRBS1 Gene
mRNA/cDNA for KHDRBS1 Gene
- (2) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (758) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000484270 1989 bps (uc001buc.3)
- ENST00000492989 1215 bps (uc001bua.3)
- ENST00000307714 2738 bps (uc057eic.1)
- ENST00000327300 2757 bps (uc001bub.5)
Unigene Clusters for KHDRBS1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for KHDRBS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KHDRBS1
- genomics-online: gRNA clones - Search results for 106 available KHDRBS1 gene related products
- Overview of 106 available KHDRBS1 gene related products
- Applied Biological Materials CRISPR for KHDRBS1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KHDRBS1
- GenScript: Design CRISPR guide RNA sequences for KHDRBS1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KHDRBS1
- Browse OriGene Inhibitory RNA Products For KHDRBS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KHDRBS1
- genomics-online: shRNA clones - Search results for 106 available KHDRBS1 gene related products
- Overview of 106 available KHDRBS1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for KHDRBS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KHDRBS1
- Applied Biological Materials Clones for KHDRBS1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - | - | - | - | - |
Expression for KHDRBS1 Gene
This gene is overexpressed in Lymph node (6.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KHDRBS1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of KHDRBS1 Gene:
KHDRBS1SOURCE GeneReport for Unigene cluster for KHDRBS1 Gene:
Hs.445893mRNA 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(2.3)
- Eye(2.1)
Primer Products
-
OriGene qPCR primer pairs for KHDRBS1
-
OriGene qPCR primer pairs and template standards for KHDRBS1
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KHDRBS1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | KHDRBS1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | KHDRBS1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Khdrbs1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Khdrbs1 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | KHDRBS1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | KHDRBS1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | KHDRBS1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | khdrbs1 33 |
|
||
| Str.20538 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398660 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | khdrbs1b 34 33 |
|
OneToMany | |
| khdrbs1a 34 |
|
OneToMany | |||
| -- 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG3875 35 |
|
|
|
| qkr54B 34 35 |
|
ManyToMany | |||
| CG3927 34 35 |
|
ManyToMany | |||
| qkr58E-1 34 35 |
|
ManyToMany | |||
| qkr58E-3 34 35 |
|
ManyToMany | |||
| CG4021 34 35 |
|
ManyToMany | |||
| nsr 34 |
|
ManyToMany | |||
| qkr58E-2 34 35 |
|
ManyToMany | |||
| CG10384 34 35 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | K07H8.9 34 |
|
ManyToMany | |
| Y69A2AR.32 34 |
|
ManyToMany | |||
| Y57G11C.36 34 |
|
ManyToMany | |||
| F54D1.1 34 |
|
ManyToMany | |||
| B0280.17 34 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSL5 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.11338 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for KHDRBS1: view image
Paralogs for KHDRBS1 Gene
Variants for KHDRBS1 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000043721 | -- | 32,032,897(+) | T/G | intron_variant | |
| rs1000108684 | -- | 32,053,405(+) | A/G | genic_downstream_transcript_variant, intron_variant | |
| rs1000149128 | -- | 32,020,616(+) | T/A | intron_variant | |
| rs1000185792 | -- | 32,035,540(+) | G/C | intron_variant | |
| rs1000188658 | -- | 32,042,149(+) | G/C | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1009817 | CNV | gain | 25217958 |
| nsv834591 | CNV | loss | 17160897 |
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)
Additional Variant Information for KHDRBS1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KHDRBS1 Gene
Disorders for KHDRBS1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| x-linked hereditary ataxia |
|
|
| human immunodeficiency virus type 1 |
|
Search KHDRBS1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for KHDRBS1
No data available for UniProtKB/Swiss-Prot and Genatlas for KHDRBS1 Gene
Publications for KHDRBS1 Gene
- 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 58
- 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 58
- 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 58
- 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 58
- 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 58
Products for KHDRBS1 Gene
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Sources for KHDRBS1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34)