Gene Gene information from NCBI Gene database.
Entrez ID 145270
Gene name Proline rich membrane anchor 1
Gene symbol PRIMA1
Synonyms (NCBI Gene)
PRIMA
Chromosome 14
Chromosome location 14q32.12
Summary 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]
miRNA miRNA information provided by mirtarbase database.
366
miRTarBase ID miRNA Experiments Reference
MIRT023651 hsa-miR-1-3p Microarray 18668037
MIRT707924 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT707923 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT707922 hsa-miR-3668 HITS-CLIP 21572407
MIRT707921 hsa-miR-7852-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IEA
GO:0016020 Component Membrane IEA
GO:0045202 Component Synapse IEA
GO:0070161 Component Anchoring junction IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613851 18319 ENSG00000175785
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86XR5
Protein name Proline-rich membrane anchor 1 (PRiMA)
Protein 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).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16101 PRIMA1 37 153 Family
Sequence
Sequence length 153
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Familial sleep-related hypermotor epilepsy Pathogenic rs2141161066, rs2503468051 RCV002028603
RCV003757085
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSY ClinGen, Disgenet, GenCC
ClinGen, Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Atherosclerosis Atherosclerosis Pubtator 31406157 Associate
★☆☆☆☆
Found in Text Mining only
Bile duct carcinoma Bile duct carcinoma BEFREE 31659107
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 23644847
★☆☆☆☆
Found in Text Mining only
Borderline Personality Disorder Borderline personality disorder BEFREE 26742039
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16168122, 16970918, 19787255, 27615392, 27863474, 30602570
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 16168122, 22982566 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 23644847
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 19921694
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 26986846
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma BEFREE 31659107
★☆☆☆☆
Found in Text Mining only