PRRT1 proline rich transmembrane protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRRT1provided by HGNC
Official Full Name: proline rich transmembrane protein 1provided by HGNC
Primary source: HGNC:HGNC:13943
See related: Ensembl:ENSG00000204314 MIM:618297; AllianceGenome:HGNC:13943
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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 postsynaptic density membrane and synaptic vesicle membrane. Predicted to be active in glutamatergic synapse and membrane. Predicted to be integral component of postsynaptic membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in brain (RPKM 24.0), ovary (RPKM 12.1) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.32

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (32148363..32153083, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (32001551..32006271, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (32116140..32120860, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Association of MHC SNP genotype with susceptibility to type 1 diabetes: a modified survival approach.
Observational study of gene-disease association. (HuGE Navigator)
Title: High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1). EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102199 (e-PCR)
- UniSTS:96533

RH103071 (e-PCR)
- UniSTS:97405

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables signaling receptor regulator activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in learning or memory	IEA Inferred from Electronic Annotation more info
involved_in long-term synaptic depression	ISS Inferred from Sequence or Structural Similarity more info
involved_in long-term synaptic potentiation	IEA Inferred from Electronic Annotation more info
involved_in protein localization to cell surface	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of AMPA receptor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in synapse organization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: proline-rich transmembrane protein 1

Names: dispanin subfamily D member 1; interferon induced transmembrane protein domain containing 7; synapse differentiation-induced protein 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001363780.2 → NP_001350709.1 proline-rich transmembrane protein 1 isoform 2

Status: VALIDATED

Source sequence(s)

AL662884, BC013201

Conserved Domains (1) summary

pfam04505
Location:138 → 204

CD225; Interferon-induced transmembrane protein
NM_030651.4 → NP_085154.3 proline-rich transmembrane protein 1 isoform 1

See identical proteins and their annotated locations for NP_085154.3

Status: VALIDATED

Source sequence(s)

AK054885, BC063046

Consensus CDS

CCDS4739.1

UniProtKB/Swiss-Prot

A6ND08, A6ND40, B0S869, Q5SSW4, Q5SSX7, Q5STI1, Q96DW3, Q96NQ8, Q99946

UniProtKB/TrEMBL

A0A1U9X8D6, A0A1U9X8E5

Related

ENSP00000211413.5, ENST00000211413.10

Conserved Domains (1) summary

pfam04505
Location:219 → 286

CD225; Interferon-induced transmembrane protein