This gene encodes a conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions. [provided by RefSeq, Aug 2012] See more...

Aliases for PROSER1 Gene

Aliases for PROSER1 Gene

  • Proline And Serine Rich 1 2 3 5
  • Proline And Serine-Rich Protein 1 3 4
  • C13orf23 3 4
  • Chromosome 13 Open Reading Frame 23 2
  • BA50D16.2 2
  • FLJ12661 2
  • KIAA2032 4
  • PROSER1 5

External Ids for PROSER1 Gene

Previous HGNC Symbols for PROSER1 Gene

  • C13orf23

Previous GeneCards Identifiers for PROSER1 Gene

  • GC13M039585

Summaries for PROSER1 Gene

Entrez Gene Summary for PROSER1 Gene

  • This gene encodes a conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions. [provided by RefSeq, Aug 2012]

GeneCards Summary for PROSER1 Gene

PROSER1 (Proline And Serine Rich 1) is a Protein Coding gene. Diseases associated with PROSER1 include Gerstmann-Straussler Disease.

Additional gene information for PROSER1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PROSER1 Gene

Genomics for PROSER1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PROSER1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J039034 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 622.6 +0.4 356 7.1 SP1 CREB1 GATAD2A PRDM10 ZNF629 REST TFE3 ZNF692 POLR2A ZNF7 PROSER1 NHLRC3 NONHSAG013280.2 lnc-STOML3-7 LHFPL6 STOML3
GH13J038979 Enhancer 0.8 Ensembl ENCODE 10.5 +57.5 57480 2.1 POLR2A REST EZH2 RCOR1 ZNF584 ATF4 ZNF589 CEBPG SMARCA4 CHD2 NHLRC3 PROSER1 STOML3 LHFPL6 ANKRD26P2 FREM2
GH13J039095 Enhancer 0.5 Ensembl 10.3 -57.7 -57712 0.4 RUNX3 TBX21 NFATC1 MTA2 IKZF1 CREM IKZF2 NHLRC3 PROSER1 LOC105370169 piR-31534-150 lnc-PROSER1-1 ENSG00000273507 LOC112268119
GH13J039423 Enhancer 0.4 Ensembl 9.6 -385.5 -385512 0.8 CEBPB CHD2 PKNOX1 NHLRC3 PROSER1 piR-42613-026 L13714-102 LHFPL6 LOC112268119
GH13J039586 Enhancer 0.4 Ensembl 9.6 -548.9 -548912 0.4 ZBTB44 OSR2 ATF4 NHLRC3 PROSER1 piR-40110-154 LOC112268119 LHFPL6 lnc-PROSER1-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PROSER1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PROSER1

Genomic Locations for PROSER1 Gene

Genomic Locations for PROSER1 Gene
chr13:39,009,865-39,038,089
(GRCh38/hg38)
Size:
28,225 bases
Orientation:
Minus strand
chr13:39,584,002-39,612,252
(GRCh37/hg19)
Size:
28,251 bases
Orientation:
Minus strand

Genomic View for PROSER1 Gene

Genes around PROSER1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PROSER1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PROSER1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PROSER1 Gene

Proteins for PROSER1 Gene

  • Protein details for PROSER1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86XN7-PRSR1_HUMAN
    Recommended name:
    Proline and serine-rich protein 1
    Protein Accession:
    Q86XN7
    Secondary Accessions:
    • A6NJ97
    • Q6P2S2
    • Q7Z3X5
    • Q8N3D2
    • Q8N3P1
    • Q9H9M1

    Protein attributes for PROSER1 Gene

    Size:
    944 amino acids
    Molecular mass:
    95698 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB14204.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC67659.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for PROSER1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PROSER1 Gene

Post-translational modifications for PROSER1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PROSER1 Gene

No data available for DME Specific Peptides for PROSER1 Gene

Domains & Families for PROSER1 Gene

Gene Families for PROSER1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PROSER1 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with PROSER1: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PROSER1 Gene

Function for PROSER1 Gene

Phenotypes From GWAS Catalog for PROSER1 Gene

genes like me logo Genes that share phenotypes with PROSER1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PROSER1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PROSER1 Gene

Localization for PROSER1 Gene

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 PROSER1 gene
Compartment Confidence
nucleus 2
cytosol 2
plasma membrane 0
extracellular 0

Subcellular locations from the

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PROSER1 Gene

Pathways & Interactions for PROSER1 Gene

PathCards logo

SuperPathways for PROSER1 Gene

No Data Available

Interacting Proteins for PROSER1 Gene

Gene Ontology (GO) - Biological Process for PROSER1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PROSER1 Gene

Drugs & Compounds for PROSER1 Gene

No Compound Related Data Available

Transcripts for PROSER1 Gene

mRNA/cDNA for PROSER1 Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PROSER1

Alternative Splicing Database (ASD) splice patterns (SP) for PROSER1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a · 13b ^ 14a · 14b · 14c
SP1: - - -
SP2: -
SP3: - - - - - - - -
SP4: -
SP5: -
SP6:
SP7:

Relevant External Links for PROSER1 Gene

GeneLoc Exon Structure for
PROSER1

Expression for PROSER1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PROSER1 Gene

Protein differential expression in normal tissues from HIPED for PROSER1 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PROSER1 Gene



Protein tissue co-expression partners for PROSER1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PROSER1

SOURCE GeneReport for Unigene cluster for PROSER1 Gene:

Hs.318526

Evidence on tissue expression from TISSUES for PROSER1 Gene

  • Nervous system(2)
genes like me logo Genes that share expression patterns with PROSER1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PROSER1 Gene

Orthologs for PROSER1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PROSER1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PROSER1 30 31
  • 99.15 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PROSER1 30 31
  • 84.75 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Proser1 30 17 31
  • 79.22 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PROSER1 31
  • 79 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Proser1 30
  • 78.03 (n)
Cow
(Bos Taurus)
Mammalia PROSER1 30 31
  • 76.25 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PROSER1 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PROSER1 30 31
  • 74.69 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PROSER1 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia proser1 30
  • 62.34 (n)
Zebrafish
(Danio rerio)
Actinopterygii PROSER1 31
  • 48 (a)
OneToOne
Species where no ortholog for PROSER1 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)
  • 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)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PROSER1 Gene

ENSEMBL:
Gene Tree for PROSER1 (if available)
TreeFam:
Gene Tree for PROSER1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PROSER1: view image

Paralogs for PROSER1 Gene

(1) SIMAP similar genes for PROSER1 Gene using alignment to 3 proteins:

  • PRSR1_HUMAN
  • Q5JS34_HUMAN
  • Q5JS36_HUMAN
genes like me logo Genes that share paralogs with PROSER1: view

No data available for Paralogs for PROSER1 Gene

Variants for PROSER1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PROSER1 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
781103 Benign: not provided 39,012,713(-) A/T MISSENSE_VARIANT
781104 Benign: not provided 39,012,840(-) G/A SYNONYMOUS_VARIANT
rs17058955 - p.Ser847Thr
rs3751379 - p.Val571Ala

Additional dbSNP identifiers (rs#s) for PROSER1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PROSER1 Gene

Variant ID Type Subtype PubMed ID
nsv977227 CNV duplication 23825009

Variation tolerance for PROSER1 Gene

Residual Variation Intolerance Score: 14.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.90; 59.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PROSER1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PROSER1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PROSER1 Gene

Disorders for PROSER1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PROSER1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
gerstmann-straussler disease
  • gsd
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with PROSER1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PROSER1 Gene

Publications for PROSER1 Gene

  1. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for PROSER1 Gene

Sources for PROSER1 Gene