Human Gene SYMPK (ENST00000245934.12_7) from GENCODE V47lift37
  Description: symplekin scaffold protein (from RefSeq NM_004819.3)
Gencode Transcript: ENST00000245934.12_7
Gencode Gene: ENSG00000125755.20_13
Transcript (Including UTRs)
   Position: hg19 chr19:46,318,668-46,366,405 Size: 47,738 Total Exon Count: 27 Strand: -
Coding Region
   Position: hg19 chr19:46,318,818-46,357,753 Size: 38,936 Coding Exon Count: 26 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:46,318,668-46,366,405)mRNA (may differ from genome)Protein (1274 aa)
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-  Comments and Description Text from UniProtKB
  ID: SYMPK_HUMAN
DESCRIPTION: RecName: Full=Symplekin;
FUNCTION: Heat-labile component of a multimolecular complex that function in histone mRNA 3'-end processing. Specific component of the tight junction (TJ) plaque, but might not be an exclusively junctional component. May have a house-keeping rule. May be required for pre-mRNA polyadenylation.
SUBUNIT: Found in a heat-sensitive complex at least composed of several cleavage and polyadenylation specific and cleavage stimulation factors. Interacts with CPSF2, CPSF3 and CSTF2. Interacts with HSF1 in heat-stressed cells.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell junction, tight junction. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction. Nucleus, nucleoplasm. Note=Cytoplasmic face of adhesion plaques (major) and nucleoplasm (minor) (in cells with TJ). Nucleoplasm (in cells without TJ). Nuclear bodies of heat-stressed cells.
TISSUE SPECIFICITY: In testis, expressed in polar epithelia and Sertoli cells but not in vascular endothelia. The protein is detected in stomach, duodenum, pancreas, liver, fetal brain, carcinomas, lens-forming cells, fibroblasts, lymphocytes, lymphoma cells, erythroleukemia cells but not in endothelium of vessels, epidermis, intercalated disks, Purkinje fiber cells of the heart and lymph node.
MISCELLANEOUS: Could be used as a differentiation marker in the differential diagnosis of tumors.
SEQUENCE CAUTION: Sequence=AAC50667.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH30214.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAD92261.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAA71861.1; Type=Frameshift; Positions=67;

-  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


-  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: 43.49 RPKM in Testis
Total median expression: 775.84 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 -30.70102-0.301 Picture PostScript Text
3' UTR -35.10150-0.234 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
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR021850 - DUF3453
IPR022075 - Symplekin_C

Pfam Domains:
PF11935 - Symplekin/PTA1 N-terminal
PF12295 - Symplekin tight junction protein C terminal
PF12765 - HEAT repeat associated with sister chromatid cohesion

SCOP Domains:
48371 - ARM repeat
48431 - Lipovitellin-phosvitin complex, superhelical domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3O2Q - X-ray MuPIT 3O2S - X-ray MuPIT 3O2T - X-ray MuPIT 3ODR - X-ray MuPIT 3ODS - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q92797
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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
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0000398 mRNA splicing, via spliceosome
GO:0006369 termination of RNA polymerase II transcription
GO:0006378 mRNA polyadenylation
GO:0006397 mRNA processing
GO:0006406 mRNA export from nucleus
GO:0007155 cell adhesion
GO:0031124 mRNA 3'-end processing
GO:0032091 negative regulation of protein binding
GO:0035307 positive regulation of protein dephosphorylation

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005923 bicellular tight junction
GO:0016020 membrane
GO:0030054 cell junction
GO:0097165 nuclear stress granule


-  Descriptions from all associated GenBank mRNAs
  AK130602 - Homo sapiens cDNA FLJ27092 fis, clone SPL04282, highly similar to Symplekin.
AB209024 - Homo sapiens mRNA for SYMPK protein variant protein.
BX649165 - Homo sapiens mRNA; cDNA DKFZp686J1348 (from clone DKFZp686J1348).
U49240 - Human symplekin mRNA, complete cds.
BC006536 - Homo sapiens symplekin, mRNA (cDNA clone IMAGE:2963685), partial cds.
BC006567 - Homo sapiens symplekin, mRNA (cDNA clone IMAGE:2963685), partial cds.
AK300252 - Homo sapiens cDNA FLJ61705 complete cds, highly similar to Symplekin.
Y10931 - H.sapiens mRNA for symplekin.
JD485314 - Sequence 466338 from Patent EP1572962.
JD257217 - Sequence 238241 from Patent EP1572962.
JD202986 - Sequence 184010 from Patent EP1572962.
JD218782 - Sequence 199806 from Patent EP1572962.
DQ893447 - Synthetic construct clone IMAGE:100006077; FLH199538.01X; RZPDo839H1182D symplekin (SYMPK) gene, encodes complete protein.
EU176761 - Synthetic construct Homo sapiens clone IMAGE:100011608; FLH263878.01L; RZPDo839A05258D symplekin (SYMPK) gene, encodes complete protein.
AB210010 - Homo sapiens mRNA for SYMPK variant protein, partial cds, clone: fh12484.
AB527248 - Synthetic construct DNA, clone: pF1KB0026, Homo sapiens SYMPK gene for symplekin, without stop codon, in Flexi system.
BC030214 - Homo sapiens symplekin, mRNA (cDNA clone IMAGE:5202004), complete cds.
U88726 - Homo sapiens symplekin mRNA, partial cds.
JD212133 - Sequence 193157 from Patent EP1572962.
AF049526 - Homo sapiens symplekin mRNA, partial cds.
JD291913 - Sequence 272937 from Patent EP1572962.
JD267376 - Sequence 248400 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q92797 (Reactome details) participates in the following event(s):

R-HSA-72231 Cleavage and Polyadenylation
R-HSA-77589 Recognition of AAUAAA sequence by CPSF
R-HSA-72185 mRNA polyadenylation
R-HSA-77594 Docking of the Mature intronless derived transcript derived mRNA, TAP and Aly/Ref at the NPC
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-72180 Cleavage of mRNA at the 3'-end
R-HSA-77590 Recruitment of CstF to the CPSF Bound Pre-mRNA
R-HSA-77592 Cleavage of Intronless Pre-mRNA at 3'-end
R-HSA-77593 Cleavage and polyadenylation of Intronless Pre-mRNA
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-8849157 TREX complex binds spliced, capped mRNA:CBC:EJC cotranscriptionally
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-77591 Binding of Cleavage factors and Poly(A)Polymerase to the CstF:CPSF:Pre-mRNA Complex
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-77595 Processing of Intronless Pre-mRNAs
R-HSA-72187 mRNA 3'-end processing
R-HSA-159231 Transport of Mature mRNA Derived from an Intronless Transcript
R-HSA-109688 Cleavage of Growing Transcript in the Termination Region
R-HSA-72172 mRNA Splicing
R-HSA-75067 Processing of Capped Intronless Pre-mRNA
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-159234 Transport of Mature mRNAs Derived from Intronless Transcripts
R-HSA-73856 RNA Polymerase II Transcription Termination
R-HSA-8953854 Metabolism of RNA
R-HSA-72202 Transport of Mature Transcript to Cytoplasm
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000245934.1, ENST00000245934.10, ENST00000245934.11, ENST00000245934.2, ENST00000245934.3, ENST00000245934.4, ENST00000245934.5, ENST00000245934.6, ENST00000245934.7, ENST00000245934.8, ENST00000245934.9, NM_004819, O00521, O00689, O00733, Q59GT5, Q8N2U5, Q92797, SPK, SYMPK_HUMAN, uc317ery.1, uc317ery.2
UCSC ID: ENST00000245934.12_7
RefSeq Accession: NM_004819.3
Protein: Q92797 (aka SYMPK_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.