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Aliases for CARHSP1 Gene
Aliases for CARHSP1 Gene
External Ids for CARHSP1 Gene
- HGNC: 17150
- NCBI Entrez Gene: 23589
- Ensembl: ENSG00000153048
- OMIM®: 616885
- UniProtKB/Swiss-Prot: Q9Y2V2
Previous GeneCards Identifiers for CARHSP1 Gene
- GC16M008750
- GC16M009048
- GC16M008914
- GC16M008916
- GC16M008857
- GC16M008946
- GC16M008867
Summaries for CARHSP1 Gene
GeneCards Summary for CARHSP1 Gene
CARHSP1 (Calcium Regulated Heat Stable Protein 1) is a Protein Coding gene. Diseases associated with CARHSP1 include Thrombocytopenia-Absent Radius Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and mRNA 3'-UTR binding. An important paralog of this gene is CSDC2.
UniProtKB/Swiss-Prot Summary for CARHSP1 Gene
-
Binds mRNA and regulates the stability of target mRNA. Binds single-stranded DNA (in vitro).
Additional gene information for CARHSP1 Gene
- HGNC (17150)
- NCBI Entrez Gene (23589)
- Ensembl (ENSG00000153048)
- OMIM® (616885)
- UniProtKB/Swiss-Prot (Q9Y2V2)
- Open Targets Platform(ENSG00000153048)
- Search for CARHSP1 at DataMed
- Search for CARHSP1 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CARHSP1 Gene
Genomics for CARHSP1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CARHSP1 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 CARHSP1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CARHSP1
- Top Transcription factor binding sites by QIAGEN in the CARHSP1 gene promoter:
-
- c-Ets-1
- E47
- Egr-3
- ITF-2
- Tal-1beta
Genomic Locations for CARHSP1 Gene
Latest Assembly
- chr16:8,852,942-8,869,012
- (GRCh38/hg38)
- Size:
- 16,071 bases
- Orientation:
- Minus strand
Previous Assembly
- chr16:8,946,799-8,962,863
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 16,065 bases
- Orientation:
- Minus strand
- chr16:8,946,799-8,962,866
- (GRCh37/hg19 by Ensembl)
- Size:
- 16,068 bases
- Orientation:
- Minus strand
Genomic View for CARHSP1 Gene
Genes around CARHSP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p13.2 by HGNC
- 16p13.2 by Entrez Gene
- 16p13.2 by Ensembl
CARHSP1 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 CARHSP1 Gene
Proteins for CARHSP1 Gene
-
Protein details for CARHSP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y2V2-CHSP1_HUMAN
- Recommended name:
- Calcium-regulated heat-stable protein 1
- Protein Accession:
- Q9Y2V2
- B2R4C3
- D3DUF5
- Q2YDX5
- Q9BQ53
Protein attributes for CARHSP1 Gene
- Size:
- 147 amino acids
- Molecular mass:
- 15892 Da
- Quaternary structure:
-
- Homodimer. Interacts with STYX (By similarity).
Protein Expression for CARHSP1 Gene
Post-translational modifications for CARHSP1 Gene
- Dephosphorylated by calcineurin in a Ca(2+) dependent manner (By similarity). Can be phosphorylated by DYRK2 (in vitro).
-
Ubiquitination at Lys64
- NX_Q9Y2V2 (NX_Q9Y2V2-1)
- Modification sites at PhosphoSitePlus
Other Protein References for CARHSP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for CARHSP1
- Novus Biologicals Antibodies for CARHSP1
-
Abcam antibodies for CARHSP1
- Invitrogen Antibodies for CARHSP1 (AFLGC-CARHSP1)
-
Biorbyt antibodies for CARHSP1
-
Santa Cruz Biotechnology (SCBT) Antibodies for CARHSP1
- Sino Biological Antibodies for CARHSP1
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for CARHSP1
- Origene Custom Protein Services for CARHSP1
- Sino Biological Recombinant Proteins for CARHSP1
- Browse Sino Biological Cell Lysates
- ProSpec Recombinant Proteins for CARHSP1
- antibodies-online: Show 9 available CARHSP1 Proteins ranked by validation data
- Compare Top CARHSP1 Proteins
-
Quality Products:
-
Abcam proteins for CARHSP1
Assay products for research
- antibodies-online: Show 6 available CARHSP1 Elisa Kits ranked by validation data
- Compare Top CARHSP1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for CARHSP1 Gene
Domains & Families for CARHSP1 Gene
Gene Families for CARHSP1 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for CARHSP1 Gene
- InterPro:
- Blocks:
-
- Cold-shock DNA-binding domain
- Cold shock protein
- ProtoNet:
Suggested Antigen Peptide Sequences for CARHSP1 Gene
- GenScript: Design optimal peptide antigens:
-
- Calcium-regulated heat-stable protein of 24 kDa (CHSP1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CARHSP1 Gene
Function for CARHSP1 Gene
Molecular function for CARHSP1 Gene
- UniProtKB/Swiss-Prot Function:
- Binds mRNA and regulates the stability of target mRNA. Binds single-stranded DNA (in vitro).
Phenotypes From GWAS Catalog for CARHSP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003723 | RNA binding | IEA | -- |
| GO:0003730 | mRNA 3'-UTR binding | IDA | 21078874 |
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0019902 | phosphatase binding | NAS | 12801884 |
Phenotypes for CARHSP1 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CARHSP1 - Starting at $85 >
- * CARHSP1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CARHSP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CARHSP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CARHSP1
miRNA for CARHSP1 Gene
- miRTarBase miRNAs that target CARHSP1
-
- hsa-let-7b-5p (MIRT001645)
- hsa-miR-155-5p (MIRT020567)
- hsa-miR-125b-5p (MIRT045955)
- hsa-miR-10a-5p (MIRT047684)
- hsa-let-7a-5p (MIRT052503)
- hsa-miR-3909 (MIRT052882)
- hsa-miR-6878-3p (MIRT631316)
- hsa-miR-6744-3p (MIRT631317)
- hsa-miR-4757-5p (MIRT631318)
- hsa-miR-4312 (MIRT631319)
- hsa-miR-372-5p (MIRT631320)
- hsa-miR-371a-5p (MIRT631321)
- hsa-miR-616-5p (MIRT631322)
- hsa-miR-373-5p (MIRT631323)
- hsa-miR-371b-5p (MIRT631324)
- hsa-miR-212-5p (MIRT631325)
- hsa-miR-6747-3p (MIRT631326)
- hsa-miR-520h (MIRT631327)
- hsa-miR-520g-3p (MIRT631328)
- hsa-miR-3973 (MIRT631329)
- hsa-miR-1278 (MIRT631330)
- hsa-miR-8054 (MIRT631331)
- hsa-miR-548k (MIRT631332)
- hsa-miR-548av-5p (MIRT631333)
- hsa-miR-3187-3p (MIRT659825)
- hsa-miR-4435 (MIRT659826)
- hsa-miR-588 (MIRT659827)
- hsa-miR-4701-5p (MIRT659828)
- hsa-miR-548s (MIRT659829)
- hsa-miR-203b-3p (MIRT659830)
- hsa-miR-7158-3p (MIRT659831)
- hsa-miR-4755-3p (MIRT659832)
- hsa-miR-4680-5p (MIRT659833)
- hsa-miR-3922-3p (MIRT659834)
- hsa-miR-3176 (MIRT659835)
- hsa-miR-4781-3p (MIRT659836)
- hsa-miR-6881-3p (MIRT721500)
- hsa-miR-6780a-3p (MIRT721501)
- hsa-miR-7111-3p (MIRT721502)
- hsa-miR-7162-5p (MIRT721503)
- hsa-miR-516b-3p (MIRT721504)
- hsa-miR-516a-3p (MIRT721505)
- hsa-miR-2115-5p (MIRT721506)
- hsa-miR-150-5p (MIRT721507)
- hsa-miR-6769b-3p (MIRT721508)
- hsa-miR-4723-3p (MIRT721509)
- hsa-miR-3183 (MIRT721510)
- hsa-miR-6887-3p (MIRT721511)
- hsa-miR-6814-5p (MIRT721512)
- hsa-miR-4255 (MIRT721513)
- hsa-miR-6513-3p (MIRT721514)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CARHSP1
- Browse OriGene Inhibitory RNA Products For CARHSP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CARHSP1
Clone products for research
- Applied Biological Materials (abm): Clones for CARHSP1 - Starting at $45 >
- * CARHSP1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG201012
- MR201012
- MR201012L3
- MR201012L4
- RC217744
- RC217744L3
- RC217744L4
- RC224443
- RC224443L3
- RC224443L4
- RC236045
- RC236046
- RC236047
- RC236048
- RC236049
- RC236050
- RC236051
- RG217744
- RG224443
- RR200536
- RR200536L3
- RR200536L4
- MR201012L3V
- MR201012L4V
- RC217744L3V
- RC217744L4V
- RC224443L3V
- RC224443L4V
- RR200536L3V
- RR200536L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CARHSP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CARHSP1
Cell Lines for research
-
Horizon Cell Lines for CARHSP1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CARHSP1 Gene
Localization for CARHSP1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CARHSP1 Gene
- Cytoplasm. Cytoplasm, P-body. Cytoplasmic granule. Note=Detected at cytoplasmic stress granules and P-bodies. Detected at exosome granules where mRNA is degraded (By similarity). {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| extracellular | 2 |
| nucleus | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000177 | colocalizes_with cytoplasmic exosome (RNase complex) | ISS | -- |
| GO:0000932 | P-body | IEA | -- |
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005829 | cytosol | ISS | -- |
| GO:0043186 | P granule | ISS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CARHSP1 Gene
Pathways & Interactions for CARHSP1 Gene
Interacting Proteins for CARHSP1 Gene
Selected Interacting proteins:
Q9Y2V2-CHSP1_HUMAN
ENSP00000379838
for CARHSP1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CARHSP1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0035556 | intracellular signal transduction | TAS | 9712905 |
| GO:0043488 | regulation of mRNA stability | IBA,ISS | -- |
No data available for Pathways by source for CARHSP1 Gene
Transcripts for CARHSP1 Gene
mRNA/cDNA for CARHSP1 Gene
- 9 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000311052 2709 nts (view in UCSC)
- ENST00000396593 3026 nts (view in UCSC)
- ENST00000561530 729 nts (view in UCSC)
- ENST00000562586 578 nts (view in UCSC)
- ENST00000562843 843 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CARHSP1 - Starting at $85 >
- * CARHSP1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CARHSP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CARHSP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CARHSP1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CARHSP1
- Browse OriGene Inhibitory RNA Products For CARHSP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CARHSP1
Clone products for research
- Applied Biological Materials (abm): Clones for CARHSP1 - Starting at $45 >
- * CARHSP1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG201012
- MR201012
- MR201012L3
- MR201012L4
- RC217744
- RC217744L3
- RC217744L4
- RC224443
- RC224443L3
- RC224443L4
- RC236045
- RC236046
- RC236047
- RC236048
- RC236049
- RC236050
- RC236051
- RG217744
- RG224443
- RR200536
- RR200536L3
- RR200536L4
- MR201012L3V
- MR201012L4V
- RC217744L3V
- RC217744L4V
- RC224443L3V
- RC224443L4V
- RR200536L3V
- RR200536L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CARHSP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CARHSP1
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · | 10c | · | 10d | · | 10e |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
| SP10: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | - | - | - | - | - |
Relevant External Links for CARHSP1 Gene
- GeneLoc Exon Structure for
- CARHSP1
Expression for CARHSP1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Blood (Hematopoietic System)
- Common Dendritic Cell Precursors Hematopoietic Bone Marrow
- Kidney (Urinary System)
-
Placenta (Extraembryonic Tissues)
-
Testis (Reproductive System)
-
Esophagus (Gastrointestinal Tract)
-
Liver (Hepatobiliary System)
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CARHSP1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CARHSP1
SOURCE GeneReport for Unigene cluster for CARHSP1 Gene:
Hs.632184Evidence on tissue expression from TISSUES for CARHSP1 Gene
- Nervous system(4.9)
- Liver(4.4)
- Blood(4.4)
- Eye(3.2)
Primer products for research
-
OriGene qPCR primer pairs for CARHSP1
-
OriGene qPCR primer pairs and template standards for CARHSP1
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CARHSP1 Gene
Orthologs for CARHSP1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CARHSP1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Gm9791 31 |
|
OneToMany | |
| Carhsp1 30 17 31 |
|
OneToMany | |||
| Dog (Canis familiaris) |
Mammalia | CARHSP1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Carhsp1 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | CARHSP1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CARHSP1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CARHSP1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CARHSP1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | carhsp1 30 |
|
||
| Str.15423 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | carhsp1-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | carhsp1 30 31 |
|
OneToOne | |
| zgc65920 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10912 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005641 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG9705 30 31 |
|
OneToMany |
- Species where no ortholog for CARHSP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- 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)
- Worm (Caenorhabditis elegans)
Evolution for CARHSP1 Gene
- ENSEMBL:
- Gene Tree for CARHSP1 (if available)
- TreeFam:
- Gene Tree for CARHSP1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CARHSP1: view image
Paralogs for CARHSP1 Gene
Variants for CARHSP1 Gene
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv341n27 | CNV | gain | 19166990 |
| dgv4906n54 | CNV | gain | 21841781 |
| esv27013 | CNV | gain | 19812545 |
| esv2763129 | CNV | gain | 21179565 |
| nsv1036523 | CNV | gain | 25217958 |
| nsv1043528 | CNV | gain | 25217958 |
| nsv457394 | CNV | gain | 19166990 |
| nsv521109 | CNV | loss | 19592680 |
| nsv571424 | CNV | gain | 21841781 |
| nsv571428 | CNV | gain | 21841781 |
| nsv833135 | CNV | loss | 17160897 |
| nsv952916 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.55;
11.94% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CARHSP1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CARHSP1
SNP Genotyping and Copy Number Assays for research
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 CARHSP1 Gene
Disorders for CARHSP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| thrombocytopenia-absent radius syndrome |
|
|
Search CARHSP1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CARHSP1
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for CARHSP1 Gene
Publications for CARHSP1 Gene
- Purification and characterization of a novel physiological substrate for calcineurin in mammalian cells. (PMID: 9712905) Groblewski GE … Williams JA (The Journal of biological chemistry 1998) 2 3 4 23
- Identification of calcium-regulated heat-stable protein of 24 kDa (CRHSP24) as a physiological substrate for PKB and RSK using KESTREL. (PMID: 15910284) Auld GC … Cohen P (The Biochemical journal 2005) 3 4 23
- Structure-functional analyses of CRHSP-24 plasticity and dynamics in oxidative stress response. (PMID: 21177848) Hou H … Rao Z (The Journal of biological chemistry 2011) 3 4
- CARHSP1 is required for effective tumor necrosis factor alpha mRNA stabilization and localizes to processing bodies and exosomes. (PMID: 21078874) Pfeiffer JR … Brooks SA (Molecular and cellular biology 2011) 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
ExternalLinks
Products for CARHSP1 Gene
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Sources for CARHSP1 Gene
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