• Gene id: 145270

Gene Summary

• Gene Symbol: PRIMA1   Gene   UCSC   Ensembl
• Aliases: PRIMA
• Gene name: proline rich membrane anchor 1
• Alternate names: proline-rich membrane anchor 1, acetylcholinesterase membrane anchor precursor PRiMA,
• Gene location: 14q32.12 (93789028: 93718297)     Exons: 9     NC_000014.9
• Gene summary(Entrez): 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]

Protein Summary

• Protein general information: Q86XR5  
  • Name: Proline rich membrane anchor 1 (PRiMA)
  • Length: 153  
  • Mass: 16689
• Sequence:

  MLLRDLVLRRGCCWSSLLLHCALHPLWGFVQVTHGEPQKSCSKVTDSCRHVCQCRPPPPLPPPPPPPPPPRLLSA
  PAPNSTSCPTEESWWSGLVIIIAVCCASLVFLTVLVIICYKAIKRKPLRKDENGTSVAEYPMSASQSNKGVDVNN
  AVV

• Structural information:
  • Protein Domains: (56..7-)
    (/note="PRAD"-)
  • STRING: ENSP00000376848
• Other Databases: GeneCards:  PRIMA1  Malacards:  PRIMA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042135	neurotransmitter catabolic process	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray