PRRT1 proline rich transmembrane protein 1

Gene ID: 80863, updated on 28-Oct-2024
Gene type: protein coding
Also known as: NG5; DSPD1; C6orf31; IFITMD7; SynDIG4

Summary

Enables identical protein binding activity. Predicted to be involved in several processes, including long-term synaptic depression; protein localization to cell surface; and regulation of AMPA receptor activity. Predicted to act upstream of or within several processes, including learning or memory; long-term synaptic potentiation; and synapse organization. Predicted to be located in plasma membrane and synaptic vesicle membrane. Predicted to be active in glutamatergic synapse and postsynaptic density membrane. [provided by Alliance of Genome Resources, Oct 2024]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1). GeneReviews: Not available
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available

Genomic context

Location:: 6p21.32

Sequence:: Chromosome: 6; NC_000006.12 (32148363..32153083, complement)

Total number of exons:: 6

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for PRRT1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
OMIM
Link to related OMIM entry
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
Variation Viewer
Related Variants

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