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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 GPCR and Signaling by BMP. 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
- HGNC(10896)
- Entrez Gene(6497)
- Ensembl(ENSG00000157933)
- OMIM(164780)
- UniProtKB(P12755)
- Open Targets Platform(ENSG00000157933)
- 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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SKI
- 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
- 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)
-
Santa Cruz Biotechnology (SCBT) Antibodies for SKI
Protein Products
-
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
- InterPro:
- Blocks:
-
- SAND domain
- Transforming protein Ski
- SAND-like
- 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 | ISM | 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 vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Strongly decreased CFP-tsO45G cell surface transport
- Reduced mammosphere formation
- Decreased viability
- Decreased shRNA abundance (Z-score < -2)
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Decreased viability in ovarian lineage
- Increased shRNA abundance (Z-score > 2)
- Increased Nanog expression
- Decreased vaccinia virus (VACV-LREV ) gene expression
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
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SKI
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SKI
-
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)
- mmu-miR-301b-3p (MIRT007835)
- mmu-miR-17-5p (MIRT010073)
- mmu-miR-340-5p (MIRT010419)
- mmu-miR-15a-5p (MIRT011789)
- mmu-miR-34b-5p (MIRT012803)
- mmu-miR-297a-5p (MIRT013033)
- mmu-miR-30e-5p (MIRT013350)
- 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)
- mmu-miR-155-5p (MIRT053265)
- 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)
- rno-miR-21-5p (MIRT438118)
- 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)
- mmu-miR-297b-5p (MIRT592446)
- mmu-miR-297c-5p (MIRT592447)
- mmu-miR-1198-5p (MIRT592448)
- mmu-miR-466a-5p (MIRT592449)
- mmu-miR-466e-5p (MIRT592450)
- mmu-miR-466p-5p (MIRT592451)
- mmu-miR-1187 (MIRT592452)
- mmu-miR-466l-5p (MIRT592453)
- mmu-miR-466i-5p (MIRT592454)
- mmu-miR-466k (MIRT592455)
- mmu-miR-466d-5p (MIRT592456)
- mmu-miR-511-3p (MIRT592457)
- mmu-miR-3059-5p (MIRT596237)
- 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 shrna, sirna, 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
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
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - 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
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 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| golgi apparatus | 1 |
- Nuclear bodies (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA,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
- Development_TGF-beta receptor signaling
- Signal transduction Activin A signaling regulation
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 |
Transcripts for SKI Gene
mRNA/cDNA for SKI Gene
- 1 REFSEQ mRNAs :
- 2 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000378536 6083 nts (view in UCSC)
- ENST00000478223 294 nts (view in UCSC)
- ENST00000507179 539 nts (view in UCSC)
- ENST00000508416 252 nts (view in UCSC)
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
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SKI
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SKI
-
Santa Cruz Biotechnology (SCBT) CRISPR for SKI
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, 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
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
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - 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
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||
| SP2: | |||||||||||||||||||||
| SP3: |
Relevant External Links for SKI Gene
- GeneLoc Exon Structure for
- SKI
Expression for SKI Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Uterus (Reproductive System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Esophagus (Gastrointestinal Tract)
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SKI
SOURCE GeneReport for Unigene cluster for SKI Gene:
Hs.656507Evidence on tissue expression from TISSUES for SKI Gene
- Skin(2.5)
- Nervous system(2.4)
- Muscle(2.3)
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
Gene Expression Assay Products
No data available for 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 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SKI 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SKI 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ski 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ski 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | SKI 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SKI 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SKI 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SKI 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ski 30 |
|
||
| Str.1843 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.102 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | skia 30 31 |
|
OneToMany | |
| skib 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG7233 32 |
|
|
|
| Snoo 31 |
|
OneToMany |
- Species where no ortholog for SKI 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)
- 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 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 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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SKI Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 636979 | Uncertain Significance: not provided | 2,303,964(+) | C/T | MISSENSE_VARIANT | |
| 640684 | Uncertain Significance: Shprintzen-Goldberg syndrome | 2,306,245(+) | G/A | MISSENSE_VARIANT | |
| 647062 | Uncertain Significance: Shprintzen-Goldberg syndrome | 2,303,949(+) | C/T | MISSENSE_VARIANT | |
| 647183 | Uncertain Significance: Shprintzen-Goldberg syndrome | 2,228,962(+) | G/C | MISSENSE_VARIANT | |
| 648597 | Uncertain Significance: Shprintzen-Goldberg syndrome | 2,229,664(+) | C/T | MISSENSE_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: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| shprintzen-goldberg craniosynostosis syndrome |
|
|
| chromosome 1p36 deletion syndrome |
|
|
| craniosynostosis |
|
|
| sarcoma |
|
|
| lung sarcoma |
|
|
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
- Open Targets Platform
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
- 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
- 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
- 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
- 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
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 shrna, sirna, 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
- Browse Conjugated 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)
- VectorBuilder Custom and pre-made DNA vectors for SKI (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SKI (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SKI (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SKI CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for 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
- 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
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) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB