KHDRBS1 Gene (Protein Coding)

KH RNA Binding Domain Containing, Signal Transduction Associated 1

GC01P031981
GIFtS:
41
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 expre... See more...

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
  • Sam68 2 3 4
  • KH Domain-Containing, RNA-Binding, Signal Transduction-Associated Protein 1 3 4
  • P21 Ras GTPase-Activating Protein-Associated P62 3 4
  • GAP-Associated Tyrosine Phosphoprotein P62 2 4
  • P62 2 3
  • P68 3 4
  • KH Domain Containing, RNA Binding, Signal Transduction Associated 1 3
  • GAP-Associated Tyrosine Phosphoprotein P62 (Sam68) 3
  • FLJ34027 2
  • KHDRBS1 5
  • SAM68 4

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. Diseases associated with KHDRBS1 include X-Linked Hereditary Ataxia and Fragile X-Associated Tremor/Ataxia Syndrome. Among its related pathways are Signaling by GPCR and Prolactin Signaling Pathway. 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 Summary 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 , Rfam classification and piRNA Summary for KHDRBS1 Gene

Genomics for KHDRBS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KHDRBS1

Top Transcription factor binding sites by QIAGEN in the KHDRBS1 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • FOXL1
  • HFH-1
  • N-Myc
  • Sp1
  • STAT1
  • STAT3

Genomic Locations for KHDRBS1 Gene

Genomic Locations for KHDRBS1 Gene
chr1:32,013,868-32,060,850
(GRCh38/hg38)
Size:
46,983 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:
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 Structure • Gene Density

RefSeq DNA sequence for KHDRBS1 Gene

Proteins for KHDRBS1 Gene

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  • 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). Interacts with the non-receptor tyrosine kinase SRMS; the interaction leads to phosphorylation of KHDRBS1 (PubMed:29496907). Interacts with ZBTB7A; negatively regulates KHDRBS1 splicing activity toward BCL2L1 (PubMed:24514149).
    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

Protein Expression for KHDRBS1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 Lys175, Lys185, and Lys432
  • Modification sites at PhosphoSitePlus

Other Protein References for KHDRBS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

InterPro:
Blocks:
  • KH domain
  • KH, type 1
  • Binding-protein-dependent transport systems inner membrane component
ProtoNet:

Suggested Antigen Peptide Sequences for KHDRBS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52899, highly similar to KH domain-containing, RNA-binding, signaltransduction-associated protein 1 (B4E043_HUMAN)
  • p68 (KHDR1_HUMAN)

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

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  2. CRISPR
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  6. Cell Line

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

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 IBA,IDA 1374686
GO:0003729 mRNA binding IBA 21873635
GO:0005070 SH3/SH2 adaptor activity IBA --
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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}.

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 4
plasma membrane 3
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KHDRBS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 1374686
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 29496907
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA,IDA 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 BioSystems pathway for KHDRBS1 Gene
1 Cell Signaling Technology 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:0000082 G1/S transition of mitotic cell cycle TAS 9013542
GO:0000086 G2/M transition of mitotic cell cycle ISS --
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IDA 24514149
GO:0006397 mRNA processing TAS,IEA --
genes like me logo Genes that share ontologies with KHDRBS1: view

Drugs & Compounds for KHDRBS1 Gene

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(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

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KHDRBS1 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KHDRBS1

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

Expression for KHDRBS1 Gene

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

mRNA expression in normal human tissues for KHDRBS1 Gene
mRNA expression by GTEx for KHDRBS1 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for KHDRBS1 Gene



Protein tissue co-expression partners for KHDRBS1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.6)
  • Liver(4.5)
  • Lung(3.5)
  • Kidney(3)
  • Intestine(2.9)
  • Muscle(2.9)
  • Skin(2.8)
  • Heart(2.7)
  • Lymph node(2.6)
  • Pancreas(2.5)
  • Spleen(2.5)
  • Eye(2.5)
  • Bone(2.4)
  • Blood(2.4)
  • Stomach(2.4)
  • Bone marrow(2.3)
  • Thyroid gland(2.3)
  • Adrenal gland(2.2)
genes like me logo Genes that share expression patterns with KHDRBS1: 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 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 30 31
  • 99.92 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia KHDRBS1 30 31
  • 94.88 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia KHDRBS1 30 31
  • 94.66 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Khdrbs1 30
  • 90.59 (n)
Mouse
(Mus musculus)
 Mammalia Khdrbs1 30 17 31
  • 90.52 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 90 (a)
 OneToMany
-- 31
  • 90 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia KHDRBS1 31
  • 78 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves KHDRBS1 30 31
  • 78.3 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia KHDRBS1 31
  • 86 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia khdrbs1 30
  • 72.25 (n)
Str.20538 30
African clawed frog
(Xenopus laevis)
 Amphibia LOC398660 30
Zebrafish
(Danio rerio)
 Actinopterygii khdrbs1b 30 31
  • 65.11 (n)
 OneToMany
khdrbs1a 31
  • 61 (a)
 OneToMany
-- 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG3875 32
  • 41 (a)
qkr54B 31 32
  • 34 (a)
 ManyToMany
CG3927 31 32
  • 34 (a)
 ManyToMany
qkr58E-1 31 32
  • 33 (a)
 ManyToMany
qkr58E-3 31 32
  • 31 (a)
 ManyToMany
CG4021 31 32
  • 30 (a)
 ManyToMany
nsr 31
  • 29 (a)
 ManyToMany
qkr58E-2 31 32
  • 28 (a)
 ManyToMany
CG10384 31 32
  • 22 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea K07H8.9 31
  • 25 (a)
 ManyToMany
Y69A2AR.32 31
  • 23 (a)
 ManyToMany
Y57G11C.36 31
  • 21 (a)
 ManyToMany
F54D1.1 31
  • 20 (a)
 ManyToMany
B0280.17 31
  • 18 (a)
 ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes MSL5 31
  • 15 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.11338 31
  • 35 (a)
 OneToMany
Species where no ortholog for KHDRBS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

Paralogs for KHDRBS1 Gene

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

  • KHDR1_HUMAN
  • B4E043_HUMAN
genes like me logo Genes that share paralogs with KHDRBS1: view

Variants for KHDRBS1 Gene

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Additional dbSNP identifiers (rs#s) for KHDRBS1 Gene

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)

Additional Variant Information for KHDRBS1 Gene

Human Gene Mutation Database (HGMD)
KHDRBS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KHDRBS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KHDRBS1 Gene

Disorders for KHDRBS1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for KHDRBS1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
x-linked hereditary ataxia
fragile x-associated tremor/ataxia syndrome
  • fragile x tremor/ataxia syndrome
atrial septal defect 2
  • asd2
spinal muscular atrophy
  • progressive muscular atrophy
mouth disease
  • mouth disorders
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KHDRBS1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with KHDRBS1: view

No data available for 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 23
  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 23
  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 23
  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 23
  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 23

ExternalLinks

View latest publications for KHDRBS1 gene in Mastermind

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