Human Gene SSH1 (ENST00000326470.9) from GENCODE V44
  Description: Homo sapiens slingshot protein phosphatase 1 (SSH1), transcript variant 3, mRNA. (from RefSeq NM_001161331)
RefSeq Summary (NM_001161331): The protein encoded by this gene belongs to the slingshot homolog (SSH) family of phosphatases, which regulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which may also be dephosphorylated and inactivated by SSH proteins. The SSH family thus appears to play a role in actin dynamics by reactivating cofilin proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011].
Gencode Transcript: ENST00000326470.9
Gencode Gene: ENSG00000084112.15
Transcript (Including UTRs)
   Position: hg38 chr12:108,791,926-108,827,551 Size: 35,626 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg38 chr12:108,792,100-108,827,405 Size: 35,306 Coding Exon Count: 13 

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RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:108,791,926-108,827,551)mRNA (may differ from genome)Protein (703 aa)
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-  Comments and Description Text from UniProtKB
  ID: SSH1_HUMAN
DESCRIPTION: RecName: Full=Protein phosphatase Slingshot homolog 1; EC=3.1.3.16; EC=3.1.3.48; AltName: Full=SSH-like protein 1; Short=SSH-1L; Short=hSSH-1L;
FUNCTION: Protein phosphatase which regulates actin filament dynamics. Dephosphorylates and activates the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Inhibitory phosphorylation of cofilin is mediated by LIMK1, which may also be dephosphorylated and inactivated by this protein.
CATALYTIC ACTIVITY: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
CATALYTIC ACTIVITY: A phosphoprotein + H(2)O = a protein + phosphate.
SUBUNIT: Interacts with actin and this stimulates phosphatase activity. Also interacts with LIMK1 and with the 14-3-3 proteins YWHAB, YWHAG, YWHAQ, and YWHAZ. Interaction with 14-3-3 proteins inhibits phosphatase activity and also blocks recruitment to lamellipodia and stimulation by actin.
INTERACTION: Q9BR76:CORO1B; NbExp=3; IntAct=EBI-1222387, EBI-351152;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Cleavage furrow. Midbody. Note=Also recruited to actin rich membrane protrusions such as lamellipodia, which may allow local control of actin dynamics at sites of cell locomotion. Also localized to the cleavage furrow and the midbody during cytokinesis.
PTM: Phosphorylated. Inhibitory phosphorylation by PAK4 promotes binding to YWHAZ. Phosphorylation at Ser-978 is decreased by stimuli which promote actin reorganization and lamellipodia formation. Can be dephosphorylated and activated by PPP3CA/calcineurin A. Phosphorylation decreases immediately prior to telophase.
MISCELLANEOUS: Tyrosine phosphatase activity has not been demonstrated for this protein to date.
SIMILARITY: Belongs to the protein-tyrosine phosphatase family.
SIMILARITY: Contains 1 tyrosine-protein phosphatase domain.
SEQUENCE CAUTION: Sequence=BAA92536.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

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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: SSH1
Diseases sorted by gene-association score: porokeratosis (9), polycystic kidney disease 3 (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.17 RPKM in Cells - Cultured fibroblasts
Total median expression: 333.13 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 -46.00146-0.315 Picture PostScript Text
3' UTR -33.90174-0.195 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
IPR014876 - DEK_C
IPR000340 - Dual-sp_phosphatase_cat-dom
IPR020422 - Dual-sp_phosphatase_subgr_cat
IPR024950 - DUSP
IPR000387 - Tyr/Dual-specificity_Pase
IPR016130 - Tyr_Pase_AS

Pfam Domains:
PF08766 - DEK C terminal domain
PF00782 - Dual specificity phosphatase, catalytic domain

ModBase Predicted Comparative 3D Structure on Q8WYL5
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-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
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AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0004721 phosphoprotein phosphatase activity
GO:0004725 protein tyrosine phosphatase activity
GO:0005515 protein binding
GO:0008138 protein tyrosine/serine/threonine phosphatase activity
GO:0016787 hydrolase activity
GO:0016791 phosphatase activity

Biological Process:
GO:0000902 cell morphogenesis
GO:0006470 protein dephosphorylation
GO:0008064 regulation of actin polymerization or depolymerization
GO:0010591 regulation of lamellipodium assembly
GO:0016311 dephosphorylation
GO:0030036 actin cytoskeleton organization
GO:0031915 positive regulation of synaptic plasticity
GO:0032268 regulation of cellular protein metabolic process
GO:0035335 peptidyl-tyrosine dephosphorylation
GO:0050770 regulation of axonogenesis
GO:0071318 cellular response to ATP
GO:0098976 excitatory chemical synaptic transmission
GO:1901216 positive regulation of neuron death
GO:1904719 positive regulation of AMPA glutamate receptor clustering
GO:1904754 positive regulation of vascular associated smooth muscle cell migration
GO:2000463 positive regulation of excitatory postsynaptic potential

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0030027 lamellipodium
GO:0030426 growth cone
GO:0030496 midbody
GO:0031252 cell leading edge
GO:0032154 cleavage furrow
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AB037719 - Homo sapiens mRNA for KIAA1298 protein, partial cds.
BC062341 - Homo sapiens slingshot homolog 1 (Drosophila), mRNA (cDNA clone MGC:71173 IMAGE:6376684), complete cds.
AB072355 - Homo sapiens mRNA for hSSH-1L, complete cds.
KJ898981 - Synthetic construct Homo sapiens clone ccsbBroadEn_08375 SSH1 gene, encodes complete protein.
KR711464 - Synthetic construct Homo sapiens clone CCSBHm_00023978 SSH1 (SSH1) mRNA, encodes complete protein.
AB072356 - Homo sapiens mRNA for hSSH-1S, complete cds.
AK095421 - Homo sapiens cDNA FLJ38102 fis, clone D3OST2000618, moderately similar to Drosophila melanogaster slingshot mRNA.
AB072357 - Homo sapiens mRNA for hSSH-1B, complete cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04810 - Regulation of actin cytoskeleton

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000326470.1, ENST00000326470.2, ENST00000326470.3, ENST00000326470.4, ENST00000326470.5, ENST00000326470.6, ENST00000326470.7, ENST00000326470.8, KIAA1298, NM_001161331, Q6P6C0, Q8N9A7, Q8WYL3, Q8WYL4, Q8WYL5, Q9P2P8, SSH1L, SSH1_HUMAN, uc010sxg.1, uc010sxg.2, uc010sxg.3
UCSC ID: ENST00000326470.9
RefSeq Accession: NM_001161331
Protein: Q8WYL5 (aka SSH1_HUMAN)
CCDS: CCDS53825.1

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