This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs,... See more...

Aliases for SYMPK Gene

Aliases for SYMPK Gene

External Ids for SYMPK Gene

Previous GeneCards Identifiers for SYMPK Gene

  • GC19M050994
  • GC19M051010
  • GC19M046318
  • GC19M042747

Summaries for SYMPK Gene

Entrez Gene Summary for SYMPK Gene

  • This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008]

GeneCards Summary for SYMPK Gene

SYMPK (Symplekin) is a Protein Coding gene. Diseases associated with SYMPK include Alcohol-Induced Mental Disorder and Alcoholic Psychosis. Among its related pathways are Processing of Capped Intronless Pre-mRNA and Tat-mediated elongation of the HIV-1 transcript. Gene Ontology (GO) annotations related to this gene include binding.

UniProtKB/Swiss-Prot Summary for SYMPK Gene

  • Scaffold protein that functions as a component of a multimolecular complex involved 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. Is involved in pre-mRNA polyadenylation. Enhances SSU72 phosphatase activity.

Gene Wiki entry for SYMPK Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SYMPK Gene

Genomics for SYMPK Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SYMPK 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 SYMPK on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SYMPK

Top Transcription factor binding sites by QIAGEN in the SYMPK gene promoter:
  • AREB6
  • Bach1
  • c-Ets-1
  • HEN1
  • Ik-3
  • Olf-1
  • USF-1
  • USF1
  • ZID

Genomic Locations for SYMPK Gene

Latest Assembly
chr19:45,815,410-45,863,194
(GRCh38/hg38)
Size:
47,785 bases
Orientation:
Minus strand

Previous Assembly
chr19:46,318,668-46,366,405
(GRCh37/hg19 by Entrez Gene)
Size:
47,738 bases
Orientation:
Minus strand

chr19:46,318,668-46,366,548
(GRCh37/hg19 by Ensembl)
Size:
47,881 bases
Orientation:
Minus strand

Genomic View for SYMPK Gene

Genes around SYMPK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SYMPK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SYMPK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYMPK Gene

Proteins for SYMPK Gene

  • Protein details for SYMPK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92797-SYMPK_HUMAN
    Recommended name:
    Symplekin
    Protein Accession:
    Q92797
    Secondary Accessions:
    • O00521
    • O00689
    • O00733
    • Q59GT5
    • Q8N2U5

    Protein attributes for SYMPK Gene

    Size:
    1274 amino acids
    Molecular mass:
    141148 Da
    Quaternary structure:
    • Found in a heat-sensitive complex at least composed of several cleavage and polyadenylation specific and cleavage stimulation factors (PubMed:16230528). Interacts with CPSF2, CPSF3 and CSTF2 (PubMed:10669729, PubMed:18688255). Interacts (via N-terminus) with HSF1; this interaction is direct and occurs upon heat shock (PubMed:14707147). Interacts with SSU72 (PubMed:20861839, PubMed:23070812).
    SequenceCaution:
    • Sequence=AAC50667.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH30214.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAD92261.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAA71861.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • Could be used as a differentiation marker in the differential diagnosis of tumors.
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Three dimensional structures from OCA and Proteopedia for SYMPK Gene

    Alternative splice isoforms for SYMPK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SYMPK Gene

Post-translational modifications for SYMPK Gene

  • Ubiquitination at Lys520, Lys551, Lys909, Lys912, Lys919, and Lys1040
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Boster Bio Antibodies for SYMPK

No data available for DME Specific Peptides for SYMPK Gene

Domains & Families for SYMPK Gene

Gene Families for SYMPK Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SYMPK Gene

Suggested Antigen Peptide Sequences for SYMPK Gene

GenScript: Design optimal peptide antigens:
  • SYMPK protein (Q96B47_HUMAN)
  • Symplekin (SYMPK_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92797

UniProtKB/Swiss-Prot:

SYMPK_HUMAN :
  • The HEAT repeats have been determined based on 3D-structure analysis of the D.melanogaster ortholog and are not detected by sequence-based prediction programs.
  • Belongs to the Symplekin family.
Domain:
  • The HEAT repeats have been determined based on 3D-structure analysis of the D.melanogaster ortholog and are not detected by sequence-based prediction programs.
Family:
  • Belongs to the Symplekin family.
genes like me logo Genes that share domains with SYMPK: view

Function for SYMPK Gene

Molecular function for SYMPK Gene

UniProtKB/Swiss-Prot Function:
Scaffold protein that functions as a component of a multimolecular complex involved 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. Is involved in pre-mRNA polyadenylation. Enhances SSU72 phosphatase activity.

Phenotypes From GWAS Catalog for SYMPK Gene

Gene Ontology (GO) - Molecular Function for SYMPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14707147
genes like me logo Genes that share ontologies with SYMPK: view
genes like me logo Genes that share phenotypes with SYMPK: view

Animal Models for SYMPK Gene

MGI Knock Outs for SYMPK:
  • Sympk Sympk<tm1a(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYMPK

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SYMPK Gene

Localization for SYMPK Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYMPK Gene

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. Colocalizes with HSF1 in nuclear stress bodies upon heat shock (PubMed:14707147). {ECO:0000269 PubMed:14707147}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SYMPK gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 1
mitochondrion 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Plasma membrane (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SYMPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IEA,IDA 8769423
GO:0005829 cytosol IDA --
GO:0005847 mRNA cleavage and polyadenylation specificity factor complex IBA 21873635
genes like me logo Genes that share ontologies with SYMPK: view

Pathways & Interactions for SYMPK Gene

genes like me logo Genes that share pathways with SYMPK: view

Pathways by source for SYMPK Gene

2 Qiagen pathways for SYMPK Gene
  • Epithelial Tight Junctions
  • Sertoli-Sertoli Cell Junction Dynamics
1 Cell Signaling Technology pathway for SYMPK Gene

Gene Ontology (GO) - Biological Process for SYMPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006369 termination of RNA polymerase II transcription TAS --
GO:0006378 mRNA polyadenylation IBA,IMP 20861839
GO:0006397 mRNA processing IEA --
GO:0006406 mRNA export from nucleus TAS --
genes like me logo Genes that share ontologies with SYMPK: view

No data available for SIGNOR curated interactions for SYMPK Gene

Drugs & Compounds for SYMPK Gene

(1) Additional Compounds for SYMPK Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SYMPK: view

Transcripts for SYMPK Gene

mRNA/cDNA for SYMPK Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYMPK

Alternative Splicing Database (ASD) splice patterns (SP) for SYMPK Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1: - - - - -
SP2: - - - -
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8: - -
SP9:
SP10:
SP11:
SP12:

ExUns: 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b · 26c ^ 27 ^ 28a · 28b
SP1: - -
SP2:
SP3: - - -
SP4:
SP5: - - -
SP6: - -
SP7:
SP8:
SP9: - -
SP10:
SP11:
SP12:

Relevant External Links for SYMPK Gene

GeneLoc Exon Structure for
SYMPK

Expression for SYMPK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SYMPK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for SYMPK Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.3), Lymph node (12.6), and Bone (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SYMPK Gene



Protein tissue co-expression partners for SYMPK Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SYMPK

SOURCE GeneReport for Unigene cluster for SYMPK Gene:

Hs.515475

mRNA Expression by UniProt/SwissProt for SYMPK Gene:

Q92797-SYMPK_HUMAN
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.

Evidence on tissue expression from TISSUES for SYMPK Gene

  • Nervous system(4.9)
  • Muscle(4.5)
  • Kidney(4.5)
  • Liver(4.4)
  • Lung(4.3)
  • Blood(2.6)
  • Intestine(2.5)
  • Skin(2.3)
  • Heart(2)
genes like me logo Genes that share expression patterns with SYMPK: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SYMPK Gene

Orthologs for SYMPK Gene

This gene was present in the common ancestor of animals.

Orthologs for SYMPK Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SYMPK 29 30
  • 99.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SYMPK 29 30
  • 91.17 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SYMPK 29 30
  • 90.67 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sympk 29 16 30
  • 87.99 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SYMPK 30
  • 87 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sympk 29
  • 86.93 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SYMPK 30
  • 82 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SYMPK 30
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sympk 29
  • 67.94 (n)
MGC75595 29
African clawed frog
(Xenopus laevis)
Amphibia MGC53503 29
Zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-117b8.1 29
  • 71.93 (n)
SYMPK 30
  • 68 (a)
OneToOne
Dr.4673 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.988 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002618 29
  • 53.05 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Sym 29 30
  • 47.39 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea symk-1 29 30
  • 41.53 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6518 30
  • 48 (a)
OneToOne
Species where no ortholog for SYMPK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chicken (Gallus gallus)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for SYMPK Gene

ENSEMBL:
Gene Tree for SYMPK (if available)
TreeFam:
Gene Tree for SYMPK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SYMPK: view image
Alliance of Genome Resources:
Additional Orthologs for SYMPK

Paralogs for SYMPK Gene

(1) SIMAP similar genes for SYMPK Gene using alignment to 8 proteins:

  • SYMPK_HUMAN
  • M0QXP5_HUMAN
  • M0R033_HUMAN
  • M0R039_HUMAN
  • M0R180_HUMAN
  • M0R1C2_HUMAN
  • M0R3C7_HUMAN
  • Q96B47_HUMAN
genes like me logo Genes that share paralogs with SYMPK: view

No data available for Paralogs for SYMPK Gene

Variants for SYMPK Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SYMPK Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SYMPK Gene

Variant ID Type Subtype PubMed ID
esv25340 CNV gain 19812545
nsv1114015 CNV deletion 24896259
nsv510770 CNV deletion 20534489

Variation tolerance for SYMPK Gene

Residual Variation Intolerance Score: 1.76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.54; 44.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SYMPK Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SYMPK
Leiden Open Variation Database (LOVD)
SYMPK

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SYMPK Gene

Disorders for SYMPK Gene

MalaCards: The human disease database

(3) MalaCards diseases for SYMPK Gene - From: COP

Disorder Aliases PubMed IDs
alcohol-induced mental disorder
  • psychoses, alcoholic
alcoholic psychosis
  • alcoholic psychoses
mitochondrial complex i deficiency, nuclear type 1
  • mc1dn1
- elite association - COSMIC cancer census association via MalaCards
Search SYMPK in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SYMPK

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SYMPK: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SYMPK Gene

Publications for SYMPK Gene

  1. Symplekin and multiple other polyadenylation factors participate in 3'-end maturation of histone mRNAs. (PMID: 16230528) Kolev NG … Steitz JA (Genes & development 2005) 3 4 22
  2. HSF1 modulation of Hsp70 mRNA polyadenylation via interaction with symplekin. (PMID: 14707147) Xing H … Sarge KD (The Journal of biological chemistry 2004) 3 4 22
  3. Complex protein interactions within the human polyadenylation machinery identify a novel component. (PMID: 10669729) Takagaki Y … Manley JL (Molecular and cellular biology 2000) 3 4 22
  4. Chromosomal localization to 19q13.3, partial genomic structure and 5' cDNA sequence of the human symplekin gene. (PMID: 9330635) Ueki K … Louis DN (Somatic cell and molecular genetics 1997) 2 3 4
  5. Symplekin, a novel type of tight junction plaque protein. (PMID: 8769423) Keon BH … Franke WW (The Journal of cell biology 1996) 3 4 22

Products for SYMPK Gene

Sources for SYMPK Gene