Human Gene SCIN (uc003ssn.4)
  Description: Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.
RefSeq Summary (NM_001112706): SCIN is a Ca(2+)-dependent actin-severing and -capping protein (Zunino et al., 2001 [PubMed 11568009]).[supplied by OMIM, May 2010].
Transcript (Including UTRs)
   Position: hg19 chr7:12,610,203-12,693,228 Size: 83,026 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr7:12,610,413-12,692,340 Size: 81,928 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:12,610,203-12,693,228)mRNA (may differ from genome)Protein (715 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ADSV_HUMAN
DESCRIPTION: RecName: Full=Adseverin; AltName: Full=Scinderin;
FUNCTION: Ca(2+)-dependent actin filament-severing protein that is presumed to have a regulatory function in exocytosis by affecting the organization of the microfilament network underneath the plasma membrane. In vitro, also has barbed end capping and nucleating activities in the presence of Ca(2+). Regulates chondrocyte proliferation and differentiation. MAP kinases p38 and ERK1/2 mediate the adseverin-induced accelerated differentiation of non-hypertrophic chondrocytes (By similarity).
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
SIMILARITY: Belongs to the villin/gelsolin family.
SIMILARITY: Contains 6 gelsolin-like repeats.
SEQUENCE CAUTION: Sequence=BAB67798.1; 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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SCIN
CDC HuGE Published Literature: SCIN
Positive Disease Associations: Heart Failure
Related Studies:
  1. Heart Failure
    , , . [PubMed 0]
  2. Heart Failure
    , , . [PubMed 0]
  3. Heart Failure
    , , . [PubMed 0]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           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: 19.62 RPKM in Kidney - Cortex
Total median expression: 103.05 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 -77.30210-0.368 Picture PostScript Text
3' UTR -230.97888-0.260 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
IPR007122 - Gelsolin
IPR007123 - Gelsolin_dom

Pfam Domains:
PF00626 - Gelsolin repeat

SCOP Domains:
55753 - Actin depolymerizing proteins
82754 - C-terminal, gelsolin-like domain of Sec23/24

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3FG6 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y6U3
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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 orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001786 phosphatidylserine binding
GO:0003779 actin binding
GO:0005509 calcium ion binding
GO:0005545 1-phosphatidylinositol binding
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0046872 metal ion binding
GO:0051015 actin filament binding

Biological Process:
GO:0008285 negative regulation of cell proliferation
GO:0017156 calcium ion regulated exocytosis
GO:0032330 regulation of chondrocyte differentiation
GO:0042989 sequestering of actin monomers
GO:0043065 positive regulation of apoptotic process
GO:0045010 actin nucleation
GO:0045654 positive regulation of megakaryocyte differentiation
GO:0051014 actin filament severing
GO:0051047 positive regulation of secretion
GO:0051127 positive regulation of actin nucleation
GO:0051693 actin filament capping

Cellular Component:
GO:0002102 podosome
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005903 brush border
GO:0005938 cell cortex
GO:0030054 cell junction
GO:0032991 macromolecular complex
GO:0042995 cell projection
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC075797 - Homo sapiens cDNA clone IMAGE:30347465, with apparent retained intron.
AB067492 - Homo sapiens mRNA for KIAA1905 protein, partial cds.
AK290363 - Homo sapiens cDNA FLJ78088 complete cds.
E11077 - Human cDNA encoding adseverin.
AK075123 - Homo sapiens cDNA FLJ90642 fis, clone PLACE1004078, highly similar to Bovine mRNA for adseverin.
BC021090 - Homo sapiens scinderin, mRNA (cDNA clone MGC:31749 IMAGE:4877906), complete cds.
AB590413 - Synthetic construct DNA, clone: pFN21AE1510, Homo sapiens SCIN gene for scinderin, without stop codon, in Flexi system.
DQ895224 - Synthetic construct Homo sapiens clone IMAGE:100009684; FLH182515.01L; RZPDo839H01137D scinderin (SCIN) gene, encodes complete protein.
DQ892033 - Synthetic construct clone IMAGE:100004663; FLH182519.01X; RZPDo839H01138D scinderin (SCIN) gene, encodes complete protein.
AF276507 - Homo sapiens scinderin mRNA, complete cds.
AK027778 - Homo sapiens cDNA FLJ14872 fis, clone PLACE1002655, highly similar to ADSEVERIN.
JD376253 - Sequence 357277 from Patent EP1572962.
JD296061 - Sequence 277085 from Patent EP1572962.
JD436011 - Sequence 417035 from Patent EP1572962.
JD214167 - Sequence 195191 from Patent EP1572962.
JD382549 - Sequence 363573 from Patent EP1572962.
JD113164 - Sequence 94188 from Patent EP1572962.
AK075198 - Homo sapiens cDNA FLJ90717 fis, clone PLACE1008657, highly similar to Bovine mRNA for adseverin.
JD306224 - Sequence 287248 from Patent EP1572962.
JD214171 - Sequence 195195 from Patent EP1572962.
JD245347 - Sequence 226371 from Patent EP1572962.
JD442486 - Sequence 423510 from Patent EP1572962.
JD533640 - Sequence 514664 from Patent EP1572962.
JD078389 - Sequence 59413 from Patent EP1572962.
JD426413 - Sequence 407437 from Patent EP1572962.
JD486035 - Sequence 467059 from Patent EP1572962.
JD116814 - Sequence 97838 from Patent EP1572962.
JD105610 - Sequence 86634 from Patent EP1572962.
JD158846 - Sequence 139870 from Patent EP1572962.
JD275697 - Sequence 256721 from Patent EP1572962.
JD111751 - Sequence 92775 from Patent EP1572962.
JD194921 - Sequence 175945 from Patent EP1572962.
JD537425 - Sequence 518449 from Patent EP1572962.
JD194920 - Sequence 175944 from Patent EP1572962.
JD136283 - Sequence 117307 from Patent EP1572962.
JD136284 - Sequence 117308 from Patent EP1572962.
JD423419 - Sequence 404443 from Patent EP1572962.
JD041371 - Sequence 22395 from Patent EP1572962.
JD321117 - Sequence 302141 from Patent EP1572962.
JD388302 - Sequence 369326 from Patent EP1572962.
JD447050 - Sequence 428074 from Patent EP1572962.
JD334776 - Sequence 315800 from Patent EP1572962.
JD461224 - Sequence 442248 from Patent EP1572962.
JD405075 - Sequence 386099 from Patent EP1572962.
JD517476 - Sequence 498500 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04666 - Fc gamma R-mediated phagocytosis
hsa04810 - Regulation of actin cytoskeleton

-  Other Names for This Gene
  Alternate Gene Symbols: A8K2U8, ADSV_HUMAN, KIAA1905, NM_001112706, NP_149119, Q8NBZ6, Q8WU97, Q96JC7, Q96PY2, Q9Y6U3
UCSC ID: uc003ssn.4
RefSeq Accession: NM_001112706
Protein: Q9Y6U3 (aka ADSV_HUMAN)
CCDS: CCDS47545.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001112706.2
exon count: 16CDS single in 3' UTR: no RNA size: 3261
ORF size: 2148CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4439.00frame shift in genome: no % Coverage: 99.54
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.