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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]
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.
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 |
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 | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0042135 | neurotransmitter catabolic process | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PRIMA1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PRIMA1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Prima1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Prima1 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PRIMA1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PRIMA1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PRIMA1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PRIMA1 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | prima1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | PRIMA1 31 |
|
OneToOne |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
supraglottis cancer |
|
|