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] See more...

Aliases for PRIMA1 Gene

Aliases for PRIMA1 Gene

  • Proline Rich Membrane Anchor 1 2 3 5
  • Proline-Rich Membrane Anchor 1 3 4
  • PRIMA 2 3
  • Acetylcholinesterase Membrane Anchor Precursor PRiMA 3
  • Membrane Anchor Of Acetylcholinesterase 2
  • PRIMA1 5
  • PRiMA 4

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. Diseases associated with PRIMA1 include Supraglottis Cancer. Gene Ontology (GO) annotations related to this gene include enzyme binding and protein membrane anchor.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for PRIMA1 Gene

Genomics for PRIMA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PRIMA1 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
GH14J093787 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.3 297 2.3 ELF1 ZIC2 ZNF623 CTCF ZNF341 GABPB1 SIN3A SP2 DRAP1 ZNF205 PRIMA1 HSALNG0103319 COX8C
GH14J093298 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 4 +484.5 484528 12.6 ZSCAN16 MAFF ZNF146 ZNF316 PRDM6 JUND ZNF2 MAFK ZNF24 SCRT1 BTBD7 UNC79 COX8C UBR7 PRIMA1 HSALNG0103309 HE855966
GH14J093778 Enhancer 1 ENCODE dbSUPER 0.4 +10.4 10419 0.2 CEBPA HOMEZ THAP11 FOXA2 SMAD4 SAP130 ZSCAN9 RARA TEAD3 THRB HSALNG0103319 PRIMA1 COX8C
GH14J093655 Enhancer 0.3 FANTOM5 1.3 +133.4 133350 0.1 CTCF FAM181A PRIMA1 ENSG00000277826 HSALNG0103314 COX8C UNC79
GH14J093759 Enhancer 1 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.3 +29.0 29028 2 RXRA HNF4A RAD21 ZFP36 SP1 RFX1 MNT NR2F2 ELK1 HSALNG0103319 PRIMA1 HSALNG0103318 COX8C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRIMA1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRIMA1

Top Transcription factor binding sites by QIAGEN in the PRIMA1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • Cart-1
  • Max1
  • NF-kappaB
  • NF-kappaB1
  • ZID

Genomic Locations for PRIMA1 Gene

Latest Assembly
chr14:93,718,298-93,789,029
(GRCh38/hg38)
Size:
70,732 bases
Orientation:
Minus strand

Previous Assembly
chr14:94,184,644-94,254,831
(GRCh37/hg19 by Entrez Gene)
Size:
70,188 bases
Orientation:
Minus strand

chr14:94,184,644-94,254,827
(GRCh37/hg19 by Ensembl)
Size:
70,184 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.
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    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

Gene Families for PRIMA1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for PRIMA1 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for PRIMA1 Gene

GenScript: Design optimal peptide antigens:
  • Proline-rich membrane anchor 1 (PRIMA_HUMAN)

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

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.

Phenotypes From GWAS Catalog for PRIMA1 Gene

genes like me logo Genes that share phenotypes with PRIMA1: view

Animal Models for PRIMA1 Gene

MGI Knock Outs for PRIMA1:

Animal Models for research

  • Taconic Biosciences Mouse Models for PRIMA1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRIMA1

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 4
extracellular 4
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

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

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

PathCards logo

SuperPathways for PRIMA1 Gene

No Data Available

Interacting Proteins for PRIMA1 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000376848 Q86XR5-PRIMA_HUMAN for PRIMA1 Gene via STRING IID

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

mRNA/cDNA for PRIMA1 Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
4 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 PRIMA1

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

No ASD Table

Relevant External Links for PRIMA1 Gene

GeneLoc Exon Structure for
PRIMA1

Expression for PRIMA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRIMA1

SOURCE GeneReport for Unigene cluster for PRIMA1 Gene:

Hs.432401

Evidence on tissue expression from TISSUES for PRIMA1 Gene

  • Nervous system(2.3)
genes like me logo Genes that share expression patterns with PRIMA1: view

Primer products for research

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 30 31
  • 93.9 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PRIMA1 30 31
  • 90.63 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Prima1 30
  • 86.93 (n)
Mouse
(Mus musculus)
Mammalia Prima1 30 17 31
  • 86.71 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PRIMA1 30 31
  • 82.87 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PRIMA1 31
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PRIMA1 31
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PRIMA1 30 31
  • 77.41 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia prima1 30
  • 61.16 (n)
Zebrafish
(Danio rerio)
Actinopterygii PRIMA1 31
  • 48 (a)
OneToOne
Species where no ortholog for PRIMA1 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)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PRIMA1 Gene

ENSEMBL:
Gene Tree for PRIMA1 (if available)
TreeFam:
Gene Tree for PRIMA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRIMA1: view image

Paralogs for PRIMA1 Gene

No data available for Paralogs for PRIMA1 Gene

Variants for PRIMA1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRIMA1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
571894 Uncertain Significance: Nocturnal frontal lobe epilepsy 93,779,302(-) CA/TG
NM_178013.4(PRIMA1):c.102_103inv (p.Gly35Ser)
MISSENSE
843428 Uncertain Significance: Nocturnal frontal lobe epilepsy 93,721,475(-) T/C
NM_178013.4(PRIMA1):c.431A>G (p.Lys144Arg)
MISSENSE
845343 Uncertain Significance: Nocturnal frontal lobe epilepsy 93,721,542(-) G/A
NM_178013.4(PRIMA1):c.364C>T (p.Pro122Ser)
MISSENSE
850141 Uncertain Significance: Nocturnal frontal lobe epilepsy 93,787,675(-) G/T
NM_178013.4(PRIMA1):c.44C>A (p.Ser15Tyr)
MISSENSE
860570 Uncertain Significance: Nocturnal frontal lobe epilepsy 93,779,229(-) G/A
NM_178013.4(PRIMA1):c.176C>T (p.Pro59Leu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PRIMA1 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 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)

Additional Variant Information for PRIMA1 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for PRIMA1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PRIMA1 Gene - From: COP

Disorder Aliases PubMed IDs
supraglottis cancer
  • ca larynx - supraglottis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PRIMA1

Genetic Association Database
(GAD)
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 PRIMA1: view

No data available for 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 AL … Krejci E (Neuron 2002) 2 3 4 23
  2. N-linked glycosylation of proline-rich membrane anchor (PRiMA) is not required for assembly and trafficking of globular tetrameric acetylcholinesterase. (PMID: 22750213) Chan WK … Tsim KW (Neuroscience letters 2012) 3 4
  3. Transcriptional regulation of proline-rich membrane anchor (PRiMA) of globular form acetylcholinesterase in neuron: an inductive effect of neuron differentiation. (PMID: 19368807) Xie HQ … Tsim KW (Brain research 2009) 3 4
  4. Expression of PRiMA in the mouse brain: membrane anchoring and accumulation of 'tailed' acetylcholinesterase. (PMID: 14622217) Perrier NA … Massoulié J (The European journal of neuroscience 2003) 3 23
  5. Spindle Assembly Checkpoint Inhibition Can Resensitize p53-Null Stem Cells to Cancer Chemotherapy. (PMID: 30862715) Liu C … Buckhaults PJ (Cancer research 2019) 3

Products for PRIMA1 Gene

Sources for PRIMA1 Gene