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

Gene ID: 80863, updated on 26-Oct-2022

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
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Genomic context

See PRRT1 in Genome Data Viewer
Location:
6p21.32
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (32148363..32153083, complement)
110 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_000006.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr6.1802 Neighboring gene FKBP prolyl isomerase like Neighboring gene uncharacterized LOC100507547 Neighboring gene PPT2-EGFL8 readthrough (NMD candidate) Neighboring gene palmitoyl-protein thioesterase 2 Neighboring gene EGF like domain multiple 8 Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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

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)

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

    Status: VALIDATED

    Source sequence(s)
    AL662884, BC013201
    Conserved Domains (1) summary
    pfam04505
    Location:138204
    CD225; Interferon-induced transmembrane protein
  2. NM_030651.4NP_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
    Q96NQ8, Q99946
    UniProtKB/TrEMBL
    A0A1U9X8D6
    Related
    ENSP00000211413.5, ENST00000211413.10
    Conserved Domains (1) summary
    pfam04505
    Location:219286
    CD225; Interferon-induced transmembrane protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    32148363..32153083 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    3480961..3485682 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    3586700..3591422 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    3389726..3394448 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

    Range
    3453364..3458084 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

    Range
    3490378..3495098 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    3371560..3376277 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    3464567..3469287 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    32001551..32006271 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)