This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009] See more...
Aliases for SKI Gene
Aliases for SKI Gene
External Ids for SKI Gene
- HGNC: 10896
- Entrez Gene: 6497
- Ensembl: ENSG00000157933
- OMIM: 164780
- UniProtKB: P12755
Previous GeneCards Identifiers for SKI Gene
- GC01P001715
- GC01P002173
- GC01P9M0086
- GC01P001435
Summaries for SKI Gene
-
This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009]
GeneCards Summary for SKI Gene
SKI (SKI Proto-Oncogene) is a Protein Coding gene. Diseases associated with SKI include Shprintzen-Goldberg Craniosynostosis Syndrome and Chromosome 1P36 Deletion Syndrome. Among its related pathways are Signaling by BMP and TGF-beta Signaling Pathway (WikiPathways). Gene Ontology (GO) annotations related to this gene include chromatin binding and ubiquitin protein ligase binding. An important paralog of this gene is SKIL.
UniProtKB/Swiss-Prot Summary for SKI Gene
-
May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling.
Additional gene information for SKI Gene
- Monarch Initiative
- Search for SKI at DataMed
- Search for SKI at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SKI Gene
Genomics for SKI Gene
GeneHancer (GH) Regulatory Elements for SKI Gene
Promoters and enhancers for SKI 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 SKI on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SKI gene promoter:
-
- AML1a
- AP-2gamma
- c-Ets-1
- c-Myb
- E47
- GATA-1
- Hand1
- HSF2
- LUN-1
- MIF-1
Genomic Locations for SKI Gene
Genomic Locations for SKI Gene
- chr1:2,228,319-2,310,213
- (GRCh38/hg38)
- Size:
- 81,895 bases
- Orientation:
- Plus strand
- chr1:2,160,134-2,241,652
- (GRCh37/hg19)
- Size:
- 81,519 bases
- Orientation:
- Plus strand
Genomic View for SKI Gene
Genes around SKI on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p36.33-p36.32 by HGNC
- 1p36.33-p36.32 by Entrez Gene
- 1p36.33 by Ensembl
SKI 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 SKI Gene
Proteins for SKI Gene
-
Protein details for SKI Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P12755-SKI_HUMAN
- Recommended name:
- Ski oncogene
- Protein Accession:
- P12755
- Q5SYT7
Protein attributes for SKI Gene
- Size:
- 728 amino acids
- Molecular mass:
- 80005 Da
- Quaternary structure:
-
- Interacts with SMAD2, SMAD3 and SMAD4. Interacts with HIPK2. Part of a complex with HIPK2 and SMAD1/2/3. Interacts with PRDM16 and SMAD3; the interaction with PRDM16 promotes the recruitment SMAD3-HDAC1 complex on the promoter of TGF-beta target genes.
Protein Expression for SKI Gene
Post-translational modifications for SKI Gene
- Ubiquitinated by RNF165, promoting proteasomal degradation, leading to enhance the BMP-Smad signaling.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for SKI Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ SKI Antibody and Immunotag™ SKI Polyclonal Antibody
- Atlas Antibodies Anti-SKI Antibody
- GeneTex Anti-SKI antibody
-
Custom Antibody ServicesOriGene Antibodies for SKI
- Novus Biologicals Antibodies for SKI
-
Abcam antibodies for SKI
- Invitrogen Antibodies for SKI (AFLGC-SKI)
-
Biorbyt antibodies for SKI
-
Santa Cruz Biotechnology (SCBT) Antibodies for SKI
Protein Products
- Atlas Antibodies PrEST Antigen SKI
-
OriGene Purified Proteins for SKI
- Search Origene for MassSpec and Protein Over-expression Lysates for SKI
- Origene Custom Protein Services for SKI
- antibodies-online: Search results for available SKI related products ranked by validation data
-
Abcam proteins for SKI
Assay Products
- antibodies-online: Show 4 available SKI Elisa Kits ranked by validation data
- Compare Top SKI Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for SKI Gene
Domains & Families for SKI Gene
Gene Families for SKI Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for SKI Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SKI Gene
- GenScript: Design optimal peptide antigens:
-
- Ski oncoprotein (Q7Z459_HUMAN)
- Ski oncoprotein (Q7Z461_HUMAN)
- Ski oncoprotein (Q7Z462_HUMAN)
- Proto-oncogene c-Ski (SKI_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P12755- Family:
-
- Belongs to the SKI family.
Function for SKI Gene
Molecular function for SKI Gene
- UniProtKB/Swiss-Prot Function:
- May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling.
- GENATLAS Biochemistry:
- avian sarcoma viral (v-ski) oncogene homolog
Phenotypes From GWAS Catalog for SKI Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | NAS | 19274049 |
| GO:0003714 | transcription corepressor activity | IMP | 12435627 |
| GO:0005515 | protein binding | IPI | 8514802 |
| GO:0008270 | zinc ion binding | IDA | 12419246 |
| GO:0019901 | protein kinase binding | IPI | 12874272 |
Phenotypes for SKI Gene
- MGI mutant phenotypes for SKI:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SKI:
-
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Reduced mammosphere formation
- Decreased viability in esophageal squamous lineage
- Increased Nanog expression
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased vaccinia virus (VACV-LREV ) gene expression
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- shRNA abundance <= 50%
Animal Models for SKI Gene
- MGI Knock Outs for SKI:
-
- Ski Ski<tm1Cco>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SKI - Select products 50% OFF >
- * SKI CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * SKI CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for SKI
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SKI
- genomics-online: gRNA clones - Search for available SKI gRNA products
- Overview of 60 available SKI gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for SKI
miRNA for SKI Gene
- miRTarBase miRNAs that target SKI
-
- hsa-mir-195-5p (MIRT004390)
- hsa-mir-155-5p (MIRT005885)
- hsa-mir-590-3p (MIRT016163)
- hsa-mir-340-5p (MIRT019622)
- hsa-mir-99a-5p (MIRT027396)
- hsa-mir-744-5p (MIRT037455)
- hsa-mir-92b-3p (MIRT040552)
- hsa-mir-484 (MIRT041820)
- hsa-mir-149-5p (MIRT045579)
- hsa-mir-221-3p (MIRT046951)
- hsa-mir-196a-5p (MIRT048269)
- hsa-mir-92a-3p (MIRT049101)
- hsa-let-7b-5p (MIRT052009)
- hsa-mir-17-5p (MIRT063433)
- hsa-mir-20a-5p (MIRT063434)
- hsa-mir-93-5p (MIRT063436)
- hsa-mir-106b-5p (MIRT063438)
- hsa-mir-20b-5p (MIRT063439)
- hsa-mir-519d-3p (MIRT063441)
- hsa-mir-7515 (MIRT063460)
- hsa-mir-125a-3p (MIRT063465)
- hsa-mir-552-3p (MIRT063467)
- hsa-mir-6505-5p (MIRT063468)
- hsa-mir-127-3p (MIRT063471)
- hsa-mir-4462 (MIRT063475)
- hsa-mir-433-5p (MIRT063478)
- hsa-mir-651-3p (MIRT063483)
- hsa-mir-548l (MIRT063487)
- hsa-mir-548n (MIRT063488)
- hsa-mir-3148 (MIRT063491)
- hsa-mir-203b-3p (MIRT063500)
- hsa-mir-5095 (MIRT063502)
- hsa-mir-7151-3p (MIRT063509)
- hsa-mir-520g-3p (MIRT133699)
- hsa-mir-520h (MIRT133700)
- hsa-mir-584-3p (MIRT133702)
- hsa-mir-548d-3p (MIRT133703)
- hsa-mir-653-3p (MIRT133704)
- hsa-mir-548h-3p (MIRT133705)
- hsa-mir-2110 (MIRT133706)
- hsa-mir-3138 (MIRT133707)
- hsa-mir-3154 (MIRT133709)
- hsa-mir-4311 (MIRT133712)
- hsa-mir-4271 (MIRT133713)
- hsa-mir-4277 (MIRT133714)
- hsa-mir-548z (MIRT133717)
- hsa-mir-548ac (MIRT133719)
- hsa-mir-4667-5p (MIRT133721)
- hsa-mir-4700-5p (MIRT133722)
- hsa-mir-4725-3p (MIRT133723)
- hsa-mir-4747-5p (MIRT133724)
- hsa-mir-5196-5p (MIRT133728)
- hsa-mir-548at-3p (MIRT133730)
- hsa-mir-548ay-3p (MIRT133731)
- hsa-mir-6770-5p (MIRT133732)
- hsa-mir-6780b-5p (MIRT133733)
- hsa-mir-8089 (MIRT133734)
- hsa-mir-9500 (MIRT133735)
- hsa-mir-548bb-3p (MIRT133736)
- hsa-mir-369-3p (MIRT133742)
- hsa-mir-374a-5p (MIRT133743)
- hsa-mir-452-5p (MIRT133747)
- hsa-mir-655-3p (MIRT133750)
- hsa-mir-711 (MIRT133757)
- hsa-mir-374c-5p (MIRT133759)
- hsa-mir-4676-3p (MIRT133762)
- hsa-mir-892c-3p (MIRT133765)
- hsa-mir-15a-5p (MIRT133769)
- hsa-mir-16-5p (MIRT133770)
- hsa-mir-15b-5p (MIRT133772)
- hsa-mir-424-5p (MIRT133776)
- hsa-mir-497-5p (MIRT133779)
- hsa-mir-503-5p (MIRT133780)
- hsa-mir-564 (MIRT133782)
- hsa-mir-627-3p (MIRT133784)
- hsa-mir-374b-3p (MIRT133786)
- hsa-mir-1909-3p (MIRT133790)
- hsa-mir-3151-5p (MIRT133791)
- hsa-mir-3180-3p (MIRT133792)
- hsa-mir-3196 (MIRT133793)
- hsa-mir-3180 (MIRT133796)
- hsa-mir-4524a-5p (MIRT133799)
- hsa-mir-4524b-5p (MIRT133806)
- hsa-mir-6722-3p (MIRT133810)
- hsa-mir-6796-3p (MIRT133813)
- hsa-mir-6816-5p (MIRT133814)
- hsa-mir-6838-5p (MIRT133816)
- hsa-mir-6853-5p (MIRT133817)
- hsa-mir-936 (MIRT271436)
- hsa-mir-4282 (MIRT271438)
- hsa-mir-4435 (MIRT271440)
- hsa-mir-6516-5p (MIRT271441)
- hsa-mir-1301-5p (MIRT271447)
- hsa-mir-5002-3p (MIRT271448)
- hsa-mir-6502-5p (MIRT271449)
- hsa-mir-507 (MIRT271450)
- hsa-mir-557 (MIRT271451)
- hsa-mir-450b-5p (MIRT271452)
- hsa-mir-3680-3p (MIRT271453)
- hsa-mir-194-3p (MIRT336220)
- hsa-mir-6793-5p (MIRT336223)
- hsa-mir-6134 (MIRT336246)
- hsa-mir-6833-5p (MIRT336247)
- hsa-mir-128-2-5p (MIRT467997)
- hsa-mir-128-1-5p (MIRT467998)
- hsa-mir-6851-5p (MIRT467999)
- hsa-mir-6781-5p (MIRT468000)
- hsa-mir-3689d (MIRT468001)
- hsa-mir-140-3p (MIRT468002)
- hsa-mir-4699-3p (MIRT468003)
- hsa-mir-4708-3p (MIRT468004)
- hsa-mir-4693-3p (MIRT468005)
- hsa-mir-5002-5p (MIRT468006)
- hsa-mir-6829-5p (MIRT487752)
- hsa-mir-25-5p (MIRT487753)
- hsa-mir-6836-5p (MIRT487754)
- hsa-mir-6132 (MIRT487755)
- hsa-mir-558 (MIRT487756)
- hsa-mir-1205 (MIRT487757)
- hsa-mir-4752 (MIRT546486)
- hsa-mir-4420 (MIRT546487)
- hsa-mir-181b-3p (MIRT546488)
- hsa-mir-181b-2-3p (MIRT546489)
- hsa-mir-4800-5p (MIRT546490)
- hsa-mir-943 (MIRT561583)
- hsa-mir-4439 (MIRT561584)
- hsa-mir-3136-5p (MIRT561585)
- hsa-mir-548x-3p (MIRT561586)
- hsa-mir-548j-3p (MIRT561587)
- hsa-mir-548aq-3p (MIRT561588)
- hsa-mir-548am-3p (MIRT561589)
- hsa-mir-548aj-3p (MIRT561590)
- hsa-mir-548ah-3p (MIRT561591)
- hsa-mir-548ae-3p (MIRT561592)
- hsa-mir-3187-3p (MIRT561593)
- hsa-mir-588 (MIRT561594)
- hsa-mir-4701-5p (MIRT561595)
- hsa-mir-548s (MIRT561596)
- hsa-mir-455-3p (MIRT561597)
- hsa-mir-7158-3p (MIRT561598)
- hsa-mir-6499-3p (MIRT561599)
- hsa-mir-23b-5p (MIRT565641)
- hsa-mir-23a-5p (MIRT565642)
- hsa-mir-486-3p (MIRT571636)
- hsa-mir-646 (MIRT571637)
- hsa-mir-7111-3p (MIRT640691)
- hsa-mir-5701 (MIRT640692)
- hsa-mir-372-5p (MIRT640693)
- hsa-mir-371a-5p (MIRT640694)
- hsa-mir-616-5p (MIRT640695)
- hsa-mir-373-5p (MIRT640696)
- hsa-mir-371b-5p (MIRT640697)
- hsa-mir-4723-3p (MIRT640698)
- hsa-mir-6769b-3p (MIRT640699)
- hsa-mir-3183 (MIRT640700)
- hsa-mir-3973 (MIRT640701)
- hsa-mir-6507-3p (MIRT640702)
- hsa-mir-4480 (MIRT717133)
- hsa-mir-1908-5p (MIRT734353)
- hsa-mir-1227-5p (MIRT736173)
- hsa-mir-1245b-3p (MIRT736357)
- hsa-mir-185-3p (MIRT738221)
- hsa-mir-2467-3p (MIRT739300)
- hsa-mir-3119 (MIRT739951)
- hsa-mir-3147 (MIRT740239)
- hsa-mir-3186-3p (MIRT740905)
- hsa-mir-342-5p (MIRT741409)
- hsa-mir-34a-5p (MIRT741446)
- hsa-mir-34c-5p (MIRT741489)
- hsa-mir-3607-5p (MIRT741528)
- hsa-mir-3670 (MIRT742092)
- hsa-mir-3678-3p (MIRT742169)
- hsa-mir-3942-3p (MIRT743155)
- hsa-mir-4255 (MIRT743376)
- hsa-mir-4260 (MIRT743470)
- hsa-mir-4283 (MIRT743722)
- hsa-mir-4425 (MIRT744283)
- hsa-mir-4467 (MIRT744906)
- hsa-mir-4489 (MIRT745259)
- hsa-mir-449a (MIRT745413)
- hsa-mir-449b-5p (MIRT745445)
- hsa-mir-4537 (MIRT746106)
- hsa-mir-4664-5p (MIRT746744)
- hsa-mir-4671-5p (MIRT746846)
- hsa-mir-4767 (MIRT748605)
- hsa-mir-5100 (MIRT749721)
- hsa-mir-524-3p (MIRT750282)
- hsa-mir-525-3p (MIRT750291)
- hsa-mir-548ao-3p (MIRT750556)
- hsa-mir-663a (MIRT753592)
- hsa-mir-6760-3p (MIRT754910)
- hsa-mir-6787-5p (MIRT755953)
- hsa-mir-6814-3p (MIRT756754)
- hsa-mir-6820-5p (MIRT756886)
- hsa-mir-6847-5p (MIRT757489)
- hsa-mir-6872-5p (MIRT758046)
- hsa-mir-7112-5p (MIRT759090)
- hsa-mir-1587 (MIRT762918)
- hsa-mir-3620-5p (MIRT766115)
- hsa-mir-4265 (MIRT768220)
- hsa-mir-4296 (MIRT768471)
- hsa-mir-4322 (MIRT768602)
- hsa-mir-4417 (MIRT768729)
- hsa-mir-4492 (MIRT769722)
- hsa-mir-4498 (MIRT769756)
- hsa-mir-4656 (MIRT770765)
- hsa-mir-4675 (MIRT770896)
- hsa-mir-4741 (MIRT771882)
- hsa-mir-5001-5p (MIRT772921)
- hsa-mir-762 (MIRT781795)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SKI
- Browse OriGene Inhibitory RNA Products For SKI
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SKI
- genomics-online: shRNA clones - Search for available SKI shRNA products
- Overview of 60 available SKI gene related products
Clone Products
- Applied Biological Materials (abm): Clones for SKI - Select products 50% OFF >
- * SKI as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * SKI tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for SKI
- Addgene plasmids for SKI
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SKI
- genomics-online: cdna clones - Search for available SKI CDNA products
- Overview of 60 available SKI gene related products
- orf clones - Search for available SKI ORF products
- Overview of 60 available SKI gene related products
Cell Line Products
-
Horizon Cell Lines for SKI
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SKI Gene
Localization for SKI Gene
Subcellular locations from UniProtKB/Swiss-Prot for SKI Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 2 |
| extracellular | 1 |
- Nuclear bodies (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 17054724 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | ISS | -- |
| GO:0005737 | cytoplasm | ISS | -- |
| GO:0005813 | centrosome | IDA | 21600873 |
Pathways & Interactions for SKI Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer | ||
| 2 | Gene Expression |
.48
|
|
| 3 | Signaling by BMP |
.33
|
|
| 4 | SMAD Signaling Network |
SMAD Signaling Network
-
|
|
| 5 | TGF-Beta Pathway |
TGF-Beta Pathway
.60
|
|
Pathways by source for SKI Gene
5 BioSystems pathways for SKI Gene
7 Reactome pathways for SKI Gene
2 GeneGo (Thomson Reuters) pathways for SKI Gene
2 Qiagen pathways for SKI Gene
- SMAD Signaling Network
- TGF-Beta Pathway
Interacting Proteins for SKI Gene
Selected Interacting proteins:
P12755-SKI_HUMAN
ENSP00000367797
for SKI Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SKI
SIGNOR curated interactions for SKI Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | TAS | -- |
| GO:0001843 | neural tube closure | ISS | -- |
| GO:0002089 | lens morphogenesis in camera-type eye | ISS | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0007179 | transforming growth factor beta receptor signaling pathway | NAS | 14583455 |
Drugs & Compounds for SKI Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
- Atlas Antibodies PrEST Antigen SKI
Transcripts for SKI Gene
mRNA/cDNA for SKI Gene
- (1) REFSEQ mRNAs :
- (2) Additional mRNA sequences :
- (121) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000378536 6083 bps (ENST00000378536.4)
- ENST00000478223 294 bps (ENST00000478223.2)
- ENST00000507179 539 bps (ENST00000507179.1)
- ENST00000508416 252 bps (ENST00000508416.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SKI - Select products 50% OFF >
- * SKI CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * SKI CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for SKI
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SKI
- genomics-online: gRNA clones - Search for available SKI gRNA products
- Overview of 60 available SKI gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for SKI
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SKI
- Browse OriGene Inhibitory RNA Products For SKI
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SKI
- genomics-online: shRNA clones - Search for available SKI shRNA products
- Overview of 60 available SKI gene related products
Clone Products
- Applied Biological Materials (abm): Clones for SKI - Select products 50% OFF >
- * SKI as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * SKI tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for SKI
- Addgene plasmids for SKI
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SKI
- genomics-online: cdna clones - Search for available SKI CDNA products
- Overview of 60 available SKI gene related products
- orf clones - Search for available SKI ORF products
- Overview of 60 available SKI gene related products
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||
| SP2: | |||||||||||||||||||||
| SP3: |
Expression for SKI Gene
This gene is overexpressed in Thyroid (68.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SKI Gene
NURSA nuclear receptor signaling pathways regulating expression of SKI Gene:
SKISOURCE GeneReport for Unigene cluster for SKI Gene:
Hs.656507Evidence on tissue expression from TISSUES for SKI Gene
- Skin(2.3)
- Muscle(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SKI Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- hypothalamus
- jaw
- lip
- mandible
- maxilla
- meninges
- middle ear
- mouth
- neck
- nose
- outer ear
- pharynx
- pituitary gland
- scalp
- skull
- thyroid
- tooth
Thorax:
- aorta
- chest wall
- clavicle
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- intestine
- kidney
- large intestine
- small intestine
- stomach
Pelvis:
- anus
- pelvis
- penis
- rectum
- testicle
- urethra
- uterus
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- coagulation system
- hair
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for SKI
- genomics-online: primer clones - Search for available SKI Primer products
- Overview of 60 available SKI gene related products
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 mRNA Expression by UniProt/SwissProt for SKI Gene
Orthologs for SKI Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SKI 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SKI 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SKI 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ski 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ski 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SKI 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SKI 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SKI 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SKI 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ski 32 |
|
||
| Str.1843 32 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.102 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | skia 33 32 32 |
|
OneToMany | |
| skib 33 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | CG7233 34 |
|
|
|
| Snoo 33 |
|
OneToMany |
- Species where no ortholog for SKI 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)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (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 SKI Gene
- ENSEMBL:
- Gene Tree for SKI (if available)
- TreeFam:
- Gene Tree for SKI (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SKI: view image
Paralogs for SKI Gene
Variants for SKI Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1002513362 | likely-benign, Shprintzen-Goldberg syndrome | 2,306,112(+) | C/T | coding_sequence_variant, synonymous_variant | |
| rs1021794039 | uncertain-significance, Shprintzen-Goldberg syndrome | 2,306,639(+) | C/A/T | coding_sequence_variant, missense_variant, synonymous_variant | |
| rs1038237858 | uncertain-significance, Shprintzen-Goldberg syndrome | 2,303,312(+) | C/T | coding_sequence_variant, missense_variant | |
| rs1040803635 | likely-benign, Shprintzen-Goldberg syndrome, not provided | 2,306,591(+) | G/A | coding_sequence_variant, synonymous_variant | |
| rs1043627749 | likely-benign, not specified, Cardiovascular phenotype | 2,228,913(+) | G/A | coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv48n54 | CNV | loss | 21841781 |
| dgv49n54 | CNV | loss | 21841781 |
| dgv4n67 | CNV | gain | 20364138 |
| esv1025209 | CNV | deletion | 17803354 |
| esv1164473 | CNV | deletion | 17803354 |
| esv1252402 | CNV | deletion | 17803354 |
| esv1536883 | CNV | deletion | 17803354 |
| esv1682069 | CNV | deletion | 17803354 |
| esv22780 | CNV | gain+loss | 19812545 |
| esv2648351 | CNV | loss | 19546169 |
| esv2673961 | CNV | deletion | 23128226 |
| esv3585023 | CNV | loss | 21293372 |
| nsv461727 | CNV | loss | 19166990 |
| nsv463949 | CNV | loss | 19166990 |
| nsv465060 | CNV | loss | 19166990 |
| nsv470682 | CNV | loss | 18288195 |
| nsv4742 | CNV | insertion | 18451855 |
| nsv482937 | CNV | loss | 15286789 |
| nsv528621 | CNV | loss | 19592680 |
| nsv545067 | CNV | loss | 21841781 |
| nsv545068 | CNV | loss | 21841781 |
| nsv545069 | CNV | gain | 21841781 |
| nsv545070 | CNV | loss | 21841781 |
| nsv545071 | CNV | gain | 21841781 |
| nsv823031 | CNV | gain | 20364138 |
| nsv823364 | CNV | gain | 20364138 |
| nsv834557 | CNV | loss | 17160897 |
| nsv834668 | CNV | loss | 17160897 |
| nsv951530 | CNV | deletion | 24416366 |
| nsv951531 | CNV | deletion | 24416366 |
| nsv951557 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
6.76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.89;
59.19% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SKI Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SKI Gene
Disorders for SKI Gene
(7) MalaCards diseases for SKI Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| shprintzen-goldberg craniosynostosis syndrome |
|
|
| chromosome 1p36 deletion syndrome |
|
|
| lung sarcoma |
|
|
| craniosynostosis |
|
|
| persistent hyperplastic primary vitreous |
|
|
Search SKI in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SKI_HUMAN- Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]: A very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities. {ECO:0000269 PubMed:23023332, ECO:0000269 PubMed:23103230, ECO:0000269 PubMed:24357594, ECO:0000269 PubMed:24736733}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SKI
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Tumor Gene Database
- (TGDB)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SKI Gene
Publications for SKI Gene
- SKI and MEL1 cooperate to inhibit transforming growth factor-beta signal in gastric cancer cells. (PMID: 19049980) Takahata M … Imamura T (The Journal of biological chemistry 2009) 3 4 23 56
- Isolation of human cDNA clones of ski and the ski-related gene, sno. (PMID: 2762147) Nomura N … Ishizaki R (Nucleic acids research 1989) 2 3 4 56
- The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. (PMID: 24736733) Schepers D … Van Laer L (European journal of human genetics : EJHG 2015) 3 4 56
- In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. (PMID: 23103230) Carmignac V … Faivre L (American journal of human genetics 2012) 3 4 56
- Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. (PMID: 23023332) Doyle AJ … Dietz HC (Nature genetics 2012) 3 4 56
ExternalLinks
Products for SKI Gene
- Custom Antibody ServicesOriGene Antibodies for SKI
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for SKI
- Search Origene for MassSpec and Protein Over-expression Lysates for SKI
- Origene Custom Protein Services for SKI
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SKI
- Browse OriGene Inhibitory RNA Products For SKI
- OriGene qPCR primer pairs for SKI
- OriGene CRISPR knockouts for SKI
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SKI
- Sino Biological Human cDNA Clone for SKI
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SKI
- Novus Biologicals proteins and lysates for SKI
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for SKI
- Abcam proteins for SKI
- Find your target
- Browse Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
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- Invitrogen Antibodies for SKI (AFLGC-SKI)
- Addgene plasmids for SKI
- antibodies-online: Show 64 available SKI Antibodies ranked by validation data
- Compare Top SKI Antibodies
- antibodies-online: Show 4 available SKI Elisa Kits ranked by validation data
- Compare Top SKI Elisa Kits
- Quality Products:
- antibodies-online: Search results for available SKI related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for SKI
- Search Santa Cruz Biotechnology (SCBT) for SKI siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SKI
- Horizon Cell Lines for SKI
- genomics-online: cdna clones - Search for available SKI CDNA products
- Overview of 60 available SKI gene related products
- orf clones - Search for available SKI ORF products
- Overview of 60 available SKI gene related products
- genomics-online: gRNA clones - Search for available SKI gRNA products
- Overview of 60 available SKI gene related products
- genomics-online: primer clones - Search for available SKI Primer products
- Overview of 60 available SKI gene related products
- genomics-online: shRNA clones - Search for available SKI shRNA products
- Overview of 60 available SKI gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SKI
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SKI
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SKI
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SKI
- Biorbyt antibodies for SKI
Sources for SKI Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51)