Human Gene SASH1 (ENST00000367467.8_4) from GENCODE V47lift37
  Description: SAM and SH3 domain containing 1, transcript variant 1 (from RefSeq NM_015278.5)
Gencode Transcript: ENST00000367467.8_4
Gencode Gene: ENSG00000111961.19_13
Transcript (Including UTRs)
   Position: hg19 chr6:148,663,974-148,873,180 Size: 209,207 Total Exon Count: 20 Strand: +
Coding Region
   Position: hg19 chr6:148,664,204-148,869,694 Size: 205,491 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:148,663,974-148,873,180)mRNA (may differ from genome)Protein (1247 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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-  Comments and Description Text from UniProtKB
  ID: SASH1_HUMAN
DESCRIPTION: RecName: Full=SAM and SH3 domain-containing protein 1; AltName: Full=Proline-glutamate repeat-containing protein;
FUNCTION: May have a role in a signaling pathway. Could act as a tumor suppressor.
TISSUE SPECIFICITY: Expressed ubiquitously, with highest levels in lung, placenta, spleen and thymus. Down-regulated in the majority (74%) of breast tumors in comparison with corresponding normal breast epithelial tissues.
SIMILARITY: Contains 2 SAM (sterile alpha motif) domains.
SIMILARITY: Contains 1 SH3 domain.
SEQUENCE CAUTION: Sequence=BAA34510.1; Type=Erroneous initiation; Sequence=BAB14909.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SASH1
Diseases sorted by gene-association score: lentiginosis, inherited patterned* (350), pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome* (350), dyschromatosis universalis hereditaria (10)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D011374 Progesterone
  • D013749 Tetrachlorodibenzodioxin
  • C017947 sodium arsenite
  • C029497 2,3-bis(3'-hydroxybenzyl)butyrolactone
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D016604 Aflatoxin B1
  • D000393 Air Pollutants
  • D001564 Benzo(a)pyrene
  • D019256 Cadmium Chloride
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 41.32 RPKM in Adipose - Subcutaneous
Total median expression: 609.27 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -131.40230-0.571 Picture PostScript Text
3' UTR -900.303486-0.258 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR021090 - rSAM/SH3_domain-containing
IPR001660 - SAM
IPR013761 - SAM/pointed
IPR011510 - SAM_2
IPR021129 - SAM_type1
IPR011511 - SH3_2
IPR001452 - SH3_domain

Pfam Domains:
PF00536 - SAM domain (Sterile alpha motif)
PF07647 - SAM domain (Sterile alpha motif)
PF07653 - Variant SH3 domain
PF12485 - Lymphocyte signaling adaptor protein

SCOP Domains:
47769 - SAM/Pointed domain
50044 - SH3-domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DL0 - NMR MuPIT 2EBP - NMR MuPIT


ModBase Predicted Comparative 3D Structure on O94885
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008022 protein C-terminus binding
GO:0019901 protein kinase binding
GO:0031435 mitogen-activated protein kinase kinase kinase binding
GO:0032947 protein complex scaffold

Biological Process:
GO:0000209 protein polyubiquitination
GO:0010595 positive regulation of endothelial cell migration
GO:0031666 positive regulation of lipopolysaccharide-mediated signaling pathway
GO:0043507 positive regulation of JUN kinase activity
GO:0045766 positive regulation of angiogenesis
GO:1900044 regulation of protein K63-linked ubiquitination
GO:1900745 positive regulation of p38MAPK cascade
GO:1901224 positive regulation of NIK/NF-kappaB signaling
GO:1902498 regulation of protein autoubiquitination

Cellular Component:
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  AK025495 - Homo sapiens cDNA: FLJ21842 fis, clone HEP01849.
AB018333 - Homo sapiens KIAA0790 mRNA for KIAA0790 protein.
AJ507735 - Homo sapiens mRNA for putative adapter and scaffold protein (SASH1 gene).
AB463240 - Synthetic construct DNA, clone: pF1KA0790, Homo sapiens SASH1 gene for SAM and SH3 domain containing 1, without stop codon, in Flexi system.
BC063279 - Homo sapiens SAM and SH3 domain containing 1, mRNA (cDNA clone IMAGE:30346140), partial cds.
JD407076 - Sequence 388100 from Patent EP1572962.
JD479843 - Sequence 460867 from Patent EP1572962.
AK024403 - Homo sapiens cDNA FLJ14341 fis, clone THYRO1000343, weakly similar to ATROPHIN-1.
AY927559 - Homo sapiens mRNA sequence.
AK300403 - Homo sapiens cDNA FLJ53196 complete cds, highly similar to SAM and SH3 domain-containing protein 1.
BX537611 - Homo sapiens mRNA; cDNA DKFZp686I1750 (from clone DKFZp686I1750).
AK074249 - Homo sapiens cDNA FLJ23669 fis, clone HEP04627.
BC028303 - Homo sapiens SAM and SH3 domain containing 1, mRNA (cDNA clone IMAGE:5001535), partial cds.
JD455394 - Sequence 436418 from Patent EP1572962.
JD249274 - Sequence 230298 from Patent EP1572962.
JD259607 - Sequence 240631 from Patent EP1572962.
JD259608 - Sequence 240632 from Patent EP1572962.
JD196594 - Sequence 177618 from Patent EP1572962.
JD460566 - Sequence 441590 from Patent EP1572962.
JD271862 - Sequence 252886 from Patent EP1572962.
JD298519 - Sequence 279543 from Patent EP1572962.
JD260484 - Sequence 241508 from Patent EP1572962.
JD431901 - Sequence 412925 from Patent EP1572962.
JD044016 - Sequence 25040 from Patent EP1572962.
AK023607 - Homo sapiens cDNA FLJ13545 fis, clone PLACE1006867.
AJ420508 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 2165640.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000367467.1, ENST00000367467.2, ENST00000367467.3, ENST00000367467.4, ENST00000367467.5, ENST00000367467.6, ENST00000367467.7, KIAA0790, NM_015278, O94885, PEPE1, Q5TGN5, Q8TAI0, Q9H7R7, SASH1_HUMAN, uc318fye.1, uc318fye.2
UCSC ID: ENST00000367467.8_4
RefSeq Accession: NM_015278.5
Protein: O94885 (aka SASH1_HUMAN or SAH1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.