PSRC1 Gene (Protein Coding)

Proline And Serine Rich Coiled-Coil 1

GC01M109279
GIFtS:
39
This gene encodes a proline-rich protein that is a target for regulation by the tumor suppressor protein p53. The encoded protein plays an important role in mitosis by recruiting and regulating microtubule depolymerases that destabalize microtubules. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Apr 2014] See more...

Aliases for PSRC1 Gene

Aliases for PSRC1 Gene

  • Proline And Serine Rich Coiled-Coil 1 2 3 5
  • DDA3 2 3 4
  • Differential Display And Activated By P53 2 3
  • Proline/Serine-Rich Coiled-Coil Protein 1 3 4
  • Proline/Serine-Rich Coiled-Coil 1 2 3
  • P53-Regulated DDA3 3
  • FP3214 3
  • PSRC1 5

External Ids for PSRC1 Gene

Previous GeneCards Identifiers for PSRC1 Gene

  • GC01M109535
  • GC01M109624
  • GC01M109625
  • GC01M109822
  • GC01M107715

Summaries for PSRC1 Gene

Entrez Gene Summary for PSRC1 Gene

  • This gene encodes a proline-rich protein that is a target for regulation by the tumor suppressor protein p53. The encoded protein plays an important role in mitosis by recruiting and regulating microtubule depolymerases that destabalize microtubules. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Apr 2014]

GeneCards Summary for PSRC1 Gene

PSRC1 (Proline And Serine Rich Coiled-Coil 1) is a Protein Coding gene. Diseases associated with PSRC1 include Familial Hypercholesterolemia. Among its related pathways are Aryl Hydrocarbon Receptor. Gene Ontology (GO) annotations related to this gene include microtubule binding. An important paralog of this gene is GTSE1.

UniProtKB/Swiss-Prot Summary for PSRC1 Gene

  • Required for normal progression through mitosis. Required for normal congress of chromosomes at the metaphase plate, and for normal rate of chromosomal segregation during anaphase. Plays a role in the regulation of mitotic spindle dynamics. Increases the rate of turnover of microtubules on metaphase spindles, and contributes to the generation of normal tension across sister kinetochores. Recruits KIF2A and ANKRD53 to the mitotic spindle and spindle poles. May participate in p53/TP53-regulated growth suppression.

Gene Wiki entry for PSRC1 Gene

Additional gene information for PSRC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PSRC1 Gene

Genomics for PSRC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PSRC1 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 PSRC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PSRC1

Top Transcription factor binding sites by QIAGEN in the PSRC1 gene promoter:
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Nkx2-5
  • p53

Genomic Locations for PSRC1 Gene

Latest Assembly
chr1:109,279,556-109,283,186
(GRCh38/hg38)
Size:
3,631 bases
Orientation:
Minus strand

Previous Assembly
chr1:109,822,178-109,825,767
(GRCh37/hg19 by Entrez Gene)
Size:
3,590 bases
Orientation:
Minus strand

chr1:109,822,178-109,825,808
(GRCh37/hg19 by Ensembl)
Size:
3,631 bases
Orientation:
Minus strand

Genomic View for PSRC1 Gene

Genes around PSRC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSRC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSRC1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PSRC1 Gene

Proteins for PSRC1 Gene

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  • Protein details for PSRC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PGN9-PSRC1_HUMAN
    Recommended name:
    Proline/serine-rich coiled-coil protein 1
    Protein Accession:
    Q6PGN9
    Secondary Accessions:
    • Q5T2Z3
    • Q6ZTI8
    • Q71MG3
    • Q9BV77

    Protein attributes for PSRC1 Gene

    Size:
    363 amino acids
    Molecular mass:
    38796 Da
    Quaternary structure:
    • Interacts with APC2 (By similarity). Interacts with KIF2A (PubMed:18411309). Interacts with ANKRD53; recruits ANKRD53 to the spindle during mitosis (PubMed:26820536).

    Alternative splice isoforms for PSRC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSRC1 Gene

Protein Expression for PSRC1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PSRC1 Gene

Other Protein References for PSRC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PSRC1 Gene

Domains & Families for PSRC1 Gene

Gene Families for PSRC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PSRC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PSRC1 Gene

GenScript: Design optimal peptide antigens:
  • Proline/serine-rich coiled-coil protein 1 (PSRC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6PGN9

UniProtKB/Swiss-Prot:

PSRC1_HUMAN :
  • Belongs to the PSRC1 family.
Family:
  • Belongs to the PSRC1 family.
genes like me logo Genes that share domains with PSRC1: view

Function for PSRC1 Gene

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  6. Cell Lines for research

Molecular function for PSRC1 Gene

UniProtKB/Swiss-Prot Function:
Required for normal progression through mitosis. Required for normal congress of chromosomes at the metaphase plate, and for normal rate of chromosomal segregation during anaphase. Plays a role in the regulation of mitotic spindle dynamics. Increases the rate of turnover of microtubules on metaphase spindles, and contributes to the generation of normal tension across sister kinetochores. Recruits KIF2A and ANKRD53 to the mitotic spindle and spindle poles. May participate in p53/TP53-regulated growth suppression.

Phenotypes From GWAS Catalog for PSRC1 Gene

Gene Ontology (GO) - Molecular Function for PSRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18411309
GO:0008017 microtubule binding ISS 12427559
genes like me logo Genes that share ontologies with PSRC1: view
genes like me logo Genes that share phenotypes with PSRC1: view

Animal Models for research

miRNA for PSRC1 Gene

miRTarBase miRNAs that target PSRC1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSRC1

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSRC1 Gene

Localization for PSRC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSRC1 Gene

Cytoplasm. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Note=Detected at the mitotic spindle and spindle poles. Diffusely distributed throughout the cell during interphase.

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 PSRC1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 2
plasma membrane 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for PSRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 colocalizes_with spindle pole IBA,IDA 18411309
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,ISS 12427559
GO:0005819 spindle ISS 12427559
GO:0005829 cytosol IDA 18411309
genes like me logo Genes that share ontologies with PSRC1: view

Pathways & Interactions for PSRC1 Gene

PathCards logo

SuperPathways for PSRC1 Gene

SuperPathway Contained pathways
1 Aryl Hydrocarbon Receptor
Aryl Hydrocarbon Receptor
-
genes like me logo Genes that share pathways with PSRC1: view

Pathways by source for PSRC1 Gene

1 BioSystems pathway for PSRC1 Gene

Gene Ontology (GO) - Biological Process for PSRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001578 microtubule bundle formation ISS 12427559
GO:0007049 cell cycle IEA --
GO:0007080 mitotic metaphase plate congression IBA,IDA 18411309
GO:0009987 cellular process IEA --
GO:0030308 negative regulation of cell growth ISS 12427559
genes like me logo Genes that share ontologies with PSRC1: view

No data available for SIGNOR curated interactions for PSRC1 Gene

Drugs & Compounds for PSRC1 Gene

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No Compound Related Data Available

Transcripts for PSRC1 Gene

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mRNA/cDNA for PSRC1 Gene

11 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
12 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 PSRC1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for PSRC1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ·
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - - - -
SP6: - - - -
SP7: - - - - -
SP8: - - - - - -
SP9: - - -
SP10: - - - - -
SP11: -
SP12: - - - -
SP13: - - - - -
SP14: - - - -
SP15: - - -

ExUns: 8d · 8e ^ 9 ^ 10a · 10b · 10c
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for PSRC1 Gene

GeneLoc Exon Structure for
PSRC1

Expression for PSRC1 Gene

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  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PSRC1 Gene

mRNA expression in normal human tissues for PSRC1 Gene
mRNA expression by BioGPS for PSRC1 GenemRNA expression by GTEx for PSRC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PSRC1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.7), Brain - Substantia nigra (x4.8), and Brain - Hippocampus (x4.3).

Protein differential expression in normal tissues from HIPED for PSRC1 Gene

This gene is overexpressed in Frontal cortex (43.9) and Retina (25.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PSRC1 Gene



Protein tissue co-expression partners for PSRC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PSRC1

SOURCE GeneReport for Unigene cluster for PSRC1 Gene:

Hs.405925

mRNA Expression by UniProt/SwissProt for PSRC1 Gene:

Q6PGN9-PSRC1_HUMAN
Tissue specificity: Widely expressed in adult and fetal tissues, with highest expression in the adult brain and fetal thymus. Not detected in adult skeletal muscle.

Evidence on tissue expression from TISSUES for PSRC1 Gene

  • Nervous system(4.9)
  • Skin(4.7)
genes like me logo Genes that share expression patterns with PSRC1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PSRC1 Gene

Orthologs for PSRC1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for PSRC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PSRC1 30 31
  • 99.7 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PSRC1 31
  • 86 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PSRC1 30 31
  • 85.89 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Psrc1 30
  • 79 (n)
Mouse
(Mus musculus)
 Mammalia Psrc1 30 17 31
  • 78.27 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PSRC1 31
  • 61 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PSRC1 31
  • 42 (a)
 OneToOne
Species where no ortholog for PSRC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for PSRC1 Gene

ENSEMBL:
Gene Tree for PSRC1 (if available)
TreeFam:
Gene Tree for PSRC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PSRC1: view image

Paralogs for PSRC1 Gene

Paralogs for PSRC1 Gene

genes like me logo Genes that share paralogs with PSRC1: view

Variants for PSRC1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PSRC1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs34863121 - p.Arg312Gln

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PSRC1 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 PSRC1 Gene

Variant ID Type Subtype PubMed ID
esv2716006 CNV deletion 23290073
esv2716017 CNV deletion 23290073
nsv1012267 CNV gain 25217958
nsv517354 CNV loss 19592680

Variation tolerance for PSRC1 Gene

Residual Variation Intolerance Score: 86% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.62; 45.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PSRC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSRC1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSRC1 Gene

Disorders for PSRC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PSRC1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
familial hypercholesterolemia
  • familial hyperbetalipoproteinaemia
- elite association - COSMIC cancer census association via MalaCards
Search PSRC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PSRC1

Genetic Association Database
(GAD)
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 PSRC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PSRC1 Gene

Publications for PSRC1 Gene

  1. Cloning and characterization of human and mouse DDA3 genes. (PMID: 12427559) Lo PK … Wang FF (Biochimica et biophysica acta 2002) 2 3 4
  2. ANKRD53 interacts with DDA3 and regulates chromosome integrity during mitosis. (PMID: 26820536) Kim S … Jang CY (Biochemical and biophysical research communications 2016) 3 4
  3. Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. (PMID: 21909109) Kim YJ … Cho YS (Nature genetics 2011) 3 41
  4. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PMID: 21378990) Schunkert H … Samani NJ (Nature genetics 2011) 3 41
  5. Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease. (PMID: 19660754) Linsel-Nitschke P … Erdmann J (Atherosclerosis 2010) 3 41

ExternalLinks

View latest publications for PSRC1 gene in Mastermind

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Sources for PSRC1 Gene