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Aliases for PRIMA1 Gene

Aliases for PRIMA1 Gene

  • Proline Rich Membrane Anchor 1 2 3 5
  • PRIMA 3 4
  • Acetylcholinesterase Membrane Anchor Precursor PRiMA 3
  • Membrane Anchor Of Acetylcholinesterase 2
  • Proline-Rich Membrane Anchor 1 3

External Ids for PRIMA1 Gene

Previous GeneCards Identifiers for PRIMA1 Gene

  • GC14U990462
  • GC14M092176
  • GC14M092178
  • GC14M092179
  • GC14M093258
  • GC14M094184
  • GC14M074364

Summaries for PRIMA1 Gene

Entrez Gene Summary for PRIMA1 Gene

  • The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008]

GeneCards Summary for PRIMA1 Gene

PRIMA1 (Proline Rich Membrane Anchor 1) is a Protein Coding gene. GO annotations related to this gene include enzyme binding and protein anchor.

UniProtKB/Swiss-Prot for PRIMA1 Gene

  • Required to anchor acetylcholinesterase (ACHE) to the basal lamina of the neuromuscular junction and to the membrane of neuronal synapses in brain. Also able to organize ACHE into tetramers (By similarity).

Gene Wiki entry for PRIMA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRIMA1 Gene

Genomics for PRIMA1 Gene

Regulatory Elements for PRIMA1 Gene

Enhancers for PRIMA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G093310 0.7 FANTOM5 dbSUPER 4 +478.4 478357 0.2 ZNF362 COX8C PRIMA1 BTBD7 ENSG00000241499
GH14G093788 1.1 ENCODE dbSUPER 0.7 +0.1 51 1.8 CTCF DRAP1 KLF1 SUZ12 FUS SIN3A ZNF223 ZIC2 RAD21 E2F1 PRIMA1 GC14M093707
GH14G093655 0.4 FANTOM5 1.3 +133.4 133356 0.1 FOXA1 FAM181A PRIMA1 ENSG00000277826 GC14M093707
GH14G093778 1.1 ENCODE dbSUPER 0.4 +10.4 10426 0.2 ELF3 FOXA2 MLX ARID4B THRB RARA GATA4 MIXL1 THAP11 HMG20B PRIMA1 GC14M093707
GH14G093759 1.1 Ensembl ENCODE dbSUPER 0.3 +29.0 28980 1.8 RFX1 MNT REST NR2F2 JUND GATA3 ELK1 SMARCA4 POLR2A HNF4A PRIMA1 GC14M093707
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRIMA1 on UCSC Golden Path with GeneCards custom track

Promoters for PRIMA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000072428 235 801 SOX13 CTCF DRAP1 KLF1 FUS ZNF223 ZIC2 RAD21 E2F1 ZFHX2

Genomic Location for PRIMA1 Gene

Chromosome:
14
Start:
93,718,298 bp from pter
End:
93,789,035 bp from pter
Size:
70,738 bases
Orientation:
Minus strand

Genomic View for PRIMA1 Gene

Genes around PRIMA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRIMA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRIMA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRIMA1 Gene

Proteins for PRIMA1 Gene

  • Protein details for PRIMA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86XR5-PRIMA_HUMAN
    Recommended name:
    Proline-rich membrane anchor 1
    Protein Accession:
    Q86XR5
    Secondary Accessions:
    • Q86XR6

    Protein attributes for PRIMA1 Gene

    Size:
    153 amino acids
    Molecular mass:
    16689 Da
    Quaternary structure:
    • Interacts with ACHE, probably through disulfide bonds.

    Alternative splice isoforms for PRIMA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRIMA1 Gene

Post-translational modifications for PRIMA1 Gene

  • Glycosylation at Asn79
  • Modification sites at PhosphoSitePlus

Other Protein References for PRIMA1 Gene

No data available for DME Specific Peptides for PRIMA1 Gene

Domains & Families for PRIMA1 Gene

Protein Domains for PRIMA1 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for PRIMA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86XR5

UniProtKB/Swiss-Prot:

PRIMA_HUMAN :
  • The proline-rich attachment domain (PRAD) binds the AChE catalytic subunits.
Domain:
  • The proline-rich attachment domain (PRAD) binds the AChE catalytic subunits.
genes like me logo Genes that share domains with PRIMA1: view

No data available for Gene Families for PRIMA1 Gene

Function for PRIMA1 Gene

Molecular function for PRIMA1 Gene

UniProtKB/Swiss-Prot Function:
Required to anchor acetylcholinesterase (ACHE) to the basal lamina of the neuromuscular junction and to the membrane of neuronal synapses in brain. Also able to organize ACHE into tetramers (By similarity).
UniProtKB/Swiss-Prot Induction:
By RAF1.
genes like me logo Genes that share phenotypes with PRIMA1: view

Animal Models for PRIMA1 Gene

MGI Knock Outs for PRIMA1:

Animal Model Products

  • Taconic Biosciences Mouse Models for PRIMA1

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PRIMA1 Gene

Localization for PRIMA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRIMA1 Gene

Cell membrane; Single-pass type I membrane protein. Cell junction. Cell junction, synapse. Note=In the brain, PRIMA linked to ACHE is found in membrane rafts. {ECO:0000250}.

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 PRIMA1 gene
Compartment Confidence
plasma membrane 5
extracellular 4
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PRIMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with PRIMA1: view

Pathways & Interactions for PRIMA1 Gene

SuperPathways for PRIMA1 Gene

No Data Available

Interacting Proteins for PRIMA1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000376848%0d%0a9606.ENSP00000303211%0d%0a
Selected Interacting proteins: Q86XR5-PRIMA_HUMAN ENSP00000376848 for PRIMA1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for PRIMA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042135 neurotransmitter catabolic process IEA --
genes like me logo Genes that share ontologies with PRIMA1: view

No data available for Pathways by source and SIGNOR curated interactions for PRIMA1 Gene

Drugs & Compounds for PRIMA1 Gene

No Compound Related Data Available

Transcripts for PRIMA1 Gene

Unigene Clusters for PRIMA1 Gene

Proline rich membrane anchor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRIMA1 Gene

No ASD Table

Relevant External Links for PRIMA1 Gene

GeneLoc Exon Structure for
PRIMA1
ECgene alternative splicing isoforms for
PRIMA1

Expression for PRIMA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRIMA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRIMA1 Gene

This gene is overexpressed in Nerve - Tibial (x8.0) and Colon - Sigmoid (x4.5).

NURSA nuclear receptor signaling pathways regulating expression of PRIMA1 Gene:

PRIMA1

SOURCE GeneReport for Unigene cluster for PRIMA1 Gene:

Hs.432401

Evidence on tissue expression from TISSUES for PRIMA1 Gene

  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with PRIMA1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PRIMA1 Gene

Orthologs for PRIMA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRIMA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRIMA1 34 35
  • 93.9 (n)
dog
(Canis familiaris)
Mammalia PRIMA1 34 35
  • 90.63 (n)
rat
(Rattus norvegicus)
Mammalia Prima1 34
  • 86.93 (n)
mouse
(Mus musculus)
Mammalia Prima1 34 16 35
  • 86.71 (n)
cow
(Bos Taurus)
Mammalia PRIMA1 34 35
  • 82.87 (n)
oppossum
(Monodelphis domestica)
Mammalia PRIMA1 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRIMA1 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRIMA1 34 35
  • 77.41 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia prima1 34
  • 61.16 (n)
zebrafish
(Danio rerio)
Actinopterygii PRIMA1 35
  • 48 (a)
OneToOne
Species where no ortholog for PRIMA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 squirt (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 PRIMA1 Gene

ENSEMBL:
Gene Tree for PRIMA1 (if available)
TreeFam:
Gene Tree for PRIMA1 (if available)

Paralogs for PRIMA1 Gene

No data available for Paralogs for PRIMA1 Gene

Variants for PRIMA1 Gene

Sequence variations from dbSNP and Humsavar for PRIMA1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_035980 A colorectal cancer sample
rs1000048284 -- 93,731,481(+) TATAT(G/T)TATTC intron-variant
rs1000073120 -- 93,750,355(+) TGAGC(C/T)ATGAT intron-variant
rs1000130927 -- 93,743,216(+) GGCTC(A/C)CTGGT intron-variant
rs1000140498 -- 93,725,248(+) GACAG(A/G)AGCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PRIMA1 Gene

Variant ID Type Subtype PubMed ID
dgv138e215 CNV deletion 23714750
esv1051201 CNV deletion 17803354
esv1465773 CNV insertion 17803354
esv2749034 CNV deletion 23290073
esv2749035 CNV deletion 23290073
esv2749036 CNV deletion 23290073
esv3302899 CNV tandem duplication 20981092
esv3390872 CNV insertion 20981092
esv3414925 CNV insertion 20981092
esv3635362 CNV gain 21293372
esv3635365 CNV loss 21293372
esv5239 CNV loss 18987735
esv994901 CNV deletion 20482838
nsv1127398 CNV deletion 24896259
nsv1134400 CNV deletion 24896259
nsv1142854 CNV tandem duplication 24896259
nsv470658 CNV gain 18288195
nsv474581 CNV novel sequence insertion 20440878
nsv524311 CNV loss 19592680
nsv832861 CNV loss 17160897

Variation tolerance for PRIMA1 Gene

Residual Variation Intolerance Score: 39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.21; 4.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRIMA1 Gene

Human Gene Mutation Database (HGMD)
PRIMA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRIMA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRIMA1 Gene

Disorders for PRIMA1 Gene

Relevant External Links for PRIMA1

Genetic Association Database (GAD)
PRIMA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRIMA1

No disorders were found for PRIMA1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PRIMA1 Gene

Publications for PRIMA1 Gene

  1. PRiMA: the membrane anchor of acetylcholinesterase in the brain. (PMID: 11804574) Perrier A.L. … Krejci E. (Neuron 2002) 2 3 4 22 64
  2. N-linked glycosylation of proline-rich membrane anchor (PRiMA) is not required for assembly and trafficking of globular tetrameric acetylcholinesterase. (PMID: 22750213) Chan W.K. … Tsim K.W. (Neurosci. Lett. 2012) 3 4 64
  3. Transcriptional regulation of proline-rich membrane anchor (PRiMA) of globular form acetylcholinesterase in neuron: an inductive effect of neuron differentiation. (PMID: 19368807) Xie H.Q. … Tsim K.W. (Brain Res. 2009) 3 4 64
  4. Expression of PRiMA in the mouse brain: membrane anchoring and accumulation of 'tailed' acetylcholinesterase. (PMID: 14622217) Perrier N.A. … MassouliAc J. (Eur. J. Neurosci. 2003) 3 22 64
  5. Aberrant DNA Methylation of rDNA and PRIMA1 in Borderline Personality Disorder. (PMID: 26742039) Teschler S. … Dammann R.H. (Int J Mol Sci 2016) 3 64

Products for PRIMA1 Gene

Sources for PRIMA1 Gene

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