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Aliases for PRRT1 Gene

Aliases for PRRT1 Gene

  • Proline-Rich Transmembrane Protein 1 2 3
  • Interferon Induced Transmembrane Protein Domain Containing 7 2 3
  • Dispanin Subfamily D Member 1 3 4
  • C6orf31 3 4
  • DSPD1 3 4
  • NG5 3 4
  • Chromosome 6 Open Reading Frame 31 2
  • IFITMD7 3

External Ids for PRRT1 Gene

Previous HGNC Symbols for PRRT1 Gene

  • C6orf31

Previous GeneCards Identifiers for PRRT1 Gene

  • GC06M032225
  • GC06M032118
  • GC06M031870

Summaries for PRRT1 Gene

GeneCards Summary for PRRT1 Gene

PRRT1 (Proline-Rich Transmembrane Protein 1) is a Protein Coding gene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRRT1 Gene

Genomics for PRRT1 Gene

Regulatory Elements for PRRT1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PRRT1 Gene

Chromosome:
6
Start:
32,148,359 bp from pter
End:
32,154,373 bp from pter
Size:
6,015 bases
Orientation:
Minus strand

Genomic View for PRRT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PRRT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for PRRT1 Gene

  • Protein details for PRRT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99946-PRRT1_HUMAN
    Recommended name:
    Proline-rich transmembrane protein 1
    Protein Accession:
    Q99946
    Secondary Accessions:
    • A6ND08
    • A6ND40
    • B0S869
    • Q5SSW4
    • Q5SSX7
    • Q5STI1
    • Q96DW3
    • Q96NQ8

    Protein attributes for PRRT1 Gene

    Size:
    306 amino acids
    Molecular mass:
    31430 Da
    Quaternary structure:
    • Component of the outer core of AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing (By similarity).

    Alternative splice isoforms for PRRT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRRT1 Gene

Proteomics data for PRRT1 Gene at MOPED

Post-translational modifications for PRRT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRRT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRRT1 Gene

Domains & Families for PRRT1 Gene

Gene Families for PRRT1 Gene

Protein Domains for PRRT1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRRT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99946

UniProtKB/Swiss-Prot:

PRRT1_HUMAN :
  • Belongs to the CD225/Dispanin family.
Family:
  • Belongs to the CD225/Dispanin family.
genes like me logo Genes that share domains with PRRT1: view

Function for PRRT1 Gene

Phenotypes for PRRT1 Gene

genes like me logo Genes that share phenotypes with PRRT1: view

Animal Model Products

miRNA for PRRT1 Gene

miRTarBase miRNAs that target PRRT1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PRRT1

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for PRRT1 Gene

Localization for PRRT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRRT1 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, synapse.

Gene Ontology (GO) - Cellular Components for PRRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with PRRT1: view

No data available for Subcellular locations from COMPARTMENTS for PRRT1 Gene

Pathways & Interactions for PRRT1 Gene

SuperPathways for PRRT1 Gene

No Data Available

Interacting Proteins for PRRT1 Gene

Selected Interacting proteins: Q99946-PRRT1_HUMAN for PRRT1 Gene via I2D

Symbol External ID(s) Details
DLG4
YWHAB

Gene Ontology (GO) - Biological Process for PRRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009607 response to biotic stimulus IEA --
genes like me logo Genes that share ontologies with PRRT1: view

No data available for Pathways by source and SIGNOR curated interactions for PRRT1 Gene

Drugs & Compounds for PRRT1 Gene

No Compound Related Data Available

Transcripts for PRRT1 Gene

Unigene Clusters for PRRT1 Gene

Proline-rich transmembrane protein 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PRRT1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRRT1 Gene

No ASD Table

Relevant External Links for PRRT1 Gene

GeneLoc Exon Structure for
PRRT1
ECgene alternative splicing isoforms for
PRRT1

Expression for PRRT1 Gene

mRNA expression in normal human tissues for PRRT1 Gene

mRNA differential expression in normal tissues according to GTEx for PRRT1 Gene

This gene is overexpressed in Brain - Cortex (x5.3), Brain - Cerebellum (x4.8), and Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for PRRT1 Gene

This gene is overexpressed in Frontal cortex (42.4), Retina (13.6), and Brain (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PRRT1 Gene



SOURCE GeneReport for Unigene cluster for PRRT1 Gene Hs.699821

genes like me logo Genes that share expression patterns with PRRT1: view

Protein tissue co-expression partners for PRRT1 Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for PRRT1 Gene

Orthologs for PRRT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRRT1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia PRRT1 35
  • 91.61 (n)
  • 98.04 (a)
PRRT1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRRT1 35
  • 99.67 (n)
  • 100 (a)
PRRT1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prrt1 16
Prrt1 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRRT1 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRRT1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRRT1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRRT1 36
  • 73 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii prrt1 36
  • 59 (a)
OneToOne
Species with no ortholog for PRRT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRRT1 Gene

ENSEMBL:
Gene Tree for PRRT1 (if available)
TreeFam:
Gene Tree for PRRT1 (if available)

Paralogs for PRRT1 Gene

No data available for Paralogs for PRRT1 Gene

Variants for PRRT1 Gene

Sequence variations from dbSNP and Humsavar for PRRT1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs776564926 -- 32,150,318(+) CAAGT(-/CCTGTATCGCGTC)CCCCT intron-variant
rs777239578 -- 32,149,170(+) TGCAG(-/A)AAGAG utr-variant-3-prime
rs778127352 -- 32,149,207(+) GGGCC(A/G)GACCA utr-variant-3-prime
rs778181399 -- 32,148,636(+) GGATT(A/C)GCAAG utr-variant-3-prime
rs778582868 -- 32,150,485(+) GGCAC(C/T)ACGAA synonymous-codon, reference, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PRRT1 Gene

Variant ID Type Subtype PubMed ID
dgv1929e1 CNV Complex 17122850
nsv830629 CNV Loss 17160897
nsv884701 CNV Gain 21882294
nsv884703 CNV Loss 21882294
dgv6642n71 CNV Loss 21882294
nsv884706 CNV Loss 21882294

Variation tolerance for PRRT1 Gene

Residual Variation Intolerance Score: 54.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.38; 8.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRRT1 Gene

HapMap Linkage Disequilibrium report
PRRT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRRT1 Gene

Disorders for PRRT1 Gene

Relevant External Links for PRRT1

Genetic Association Database (GAD)
PRRT1
Human Genome Epidemiology (HuGE) Navigator
PRRT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRRT1
genes like me logo Genes that share disorders with PRRT1: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PRRT1 Gene

Publications for PRRT1 Gene

  1. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PMID: 23382691) Lauc G. … Rudan I. (PLoS Genet. 2013) 67
  2. A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1). (PMID: 23326239) Rubicz R. … GAPring H.H. (PLoS Genet. 2013) 67
  3. The dispanins: a novel gene family of ancient origin that contains 14 human members. (PMID: 22363774) Sallman Almen M. … Schioth H.B. (PLoS ONE 2012) 67
  4. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos L.F. … Criswell L.A. (PLoS Genet. 2009) 67
  5. Association of MHC SNP genotype with susceptibility to type 1 diabetes: a modified survival approach. (PMID: 19143821) McKinnon E. … James I. (Diabetes Obes Metab 2009) 67

Products for PRRT1 Gene

Sources for PRRT1 Gene

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