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Aliases for PRRT1 Gene

Aliases for PRRT1 Gene

  • Proline Rich Transmembrane Protein 1 2 3 5
  • Interferon Induced Transmembrane Protein Domain Containing 7 2 3
  • Proline-Rich Transmembrane Protein 1 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. An important paralog of this gene is PRRT1B.

Additional gene information for PRRT1 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for PRRT1 Gene

Promoters and enhancers for PRRT1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I032150 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +1.0 956 5.1 FEZF1 DMAP1 E2F8 ZNF143 SP3 NFYC MEF2D GLIS1 NBN NR2C1 LOC100507547 PRRT1 PPT2-EGFL8 PPT2 ATF6B MSH5 BRD2 HLA-DRB1 DDX39B SKIV2L
GH06I032965 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 40.5 -816.3 -816296 10.4 ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 ZNF263 BRD2 HLA-DMA ENSG00000223837 LEMD2 VPS52 RXRB ATF6B DAXX HCG25 RING1
GH06I031196 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 31.9 +956.5 956475 3.1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 NFYC ZNF610 ENSG00000272501 HCG27 GC06M031194 PSORS1C3 POU5F1 PSORS1C2 PRRT1 CCHCR1 HLA-C GNL1
GH06I031774 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 21.7 +377.6 377567 3.8 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF263 SP3 VWA7 GTF2H4 DXO PPT2 EGFL8 ZBTB12 PRRC2A PRRT1 NFKBIL1 C4A
GH06I031619 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.2 +533.1 533146 4 CLOCK ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC GC06P031990 GC06P032044 GC06P032046 GC06P032049 GC06P032051 GC06P032055 GC06P032056 GC06P032063 GC06P032067 GC06P032070
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PRRT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PRRT1 gene promoter:

Genomic Locations for PRRT1 Gene

Genomic Locations for PRRT1 Gene
6,015 bases
Minus strand

Genomic View for PRRT1 Gene

Genes around PRRT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRRT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Proline-rich transmembrane protein 1
    Protein Accession:
    Secondary Accessions:
    • A6ND08
    • A6ND40
    • B0S869
    • Q5SSW4
    • Q5SSX7
    • Q5STI1
    • Q96DW3
    • Q96NQ8

    Protein attributes for PRRT1 Gene

    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


neXtProt entry for PRRT1 Gene

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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PRRT1 Gene


Suggested Antigen Peptide Sequences for PRRT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



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

Function for PRRT1 Gene

Phenotypes From GWAS Catalog for PRRT1 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , 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.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRRT1 gene
Compartment Confidence
plasma membrane 5
peroxisome 2

Gene Ontology (GO) - Cellular Components for PRRT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IBA --
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 the Human Protein Atlas (HPA) 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 UniProtKB IID

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:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for PRRT1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PRRT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Protein tissue co-expression partners for PRRT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRRT1 Gene:


SOURCE GeneReport for Unigene cluster for PRRT1 Gene:


Evidence on tissue expression from TISSUES for PRRT1 Gene

  • Nervous system(4.8)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with PRRT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia PRRT1 33 34
  • 99.67 (n)
(Mus musculus)
Mammalia Prrt1 34
  • 97 (a)
(Bos Taurus)
Mammalia PRRT1 34
  • 95 (a)
(Monodelphis domestica)
Mammalia PRRT1 34
  • 92 (a)
(Canis familiaris)
Mammalia PRRT1 33 34
  • 91.61 (n)
(Ornithorhynchus anatinus)
Mammalia PRRT1 34
  • 79 (a)
(Anolis carolinensis)
Reptilia PRRT1 34
  • 73 (a)
(Danio rerio)
Actinopterygii prrt1 34
  • 59 (a)
Species where no ortholog for PRRT1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for PRRT1 (if available)
Gene Tree for PRRT1 (if available)

Paralogs for PRRT1 Gene

Paralogs for PRRT1 Gene

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

Variants for PRRT1 Gene

Sequence variations from dbSNP and Humsavar for PRRT1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
VAR_036212 A breast cancer sample p.Ala94Thr
rs1000611882 -- 32,151,289(-) A/G intron_variant
rs1000940084 -- 32,151,594(-) T/C intron_variant
rs1001946289 -- 32,153,513(-) T/A upstream_transcript_variant
rs1002397740 -- 32,153,171(-) T/G upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv10404n54 CNV loss 21841781
dgv10463n54 CNV loss 21841781
dgv10472n54 CNV loss 21841781
esv2759415 CNV gain+loss 17122850
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv602104 CNV loss 21841781
nsv830629 CNV loss 17160897

Variation tolerance for PRRT1 Gene

Residual Variation Intolerance Score: 54.1% 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)

Additional Variant Information for PRRT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for PRRT1 Gene

Additional Disease Information for PRRT1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PRRT1 Gene.

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

Publications for PRRT1 Gene

  1. The dispanins: a novel gene family of ancient origin that contains 14 human members. (PMID: 22363774) Sällman Almén M … Schiöth HB (PloS one 2012) 3 4 58
  2. Genetic association of the major histocompatibility complex with rheumatoid arthritis implicates two non-DRB1 loci. (PMID: 19116923) Vignal C … Wilson AG (Arthritis and rheumatism 2009) 3 44 58
  3. Association of MHC SNP genotype with susceptibility to type 1 diabetes: a modified survival approach. (PMID: 19143821) McKinnon E … Diabetes Genetics Consortium (Diabetes, obesity & metabolism 2009) 3 44 58
  4. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos LF … Criswell LA (PLoS genetics 2009) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for PRRT1 Gene

Sources for PRRT1 Gene

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