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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 LOC642515.

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

Regulatory Elements for PRRT1 Gene

Enhancers for PRRT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G032965 1.5 ENCODE dbSUPER 40.5 -816.3 -816296 10.4 CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 BRD2 RING1 RXRB VPS52 LEMD2 PPT2 PRRT1 ATF6B HLA-DMA DAXX
GH06G031196 1.4 ENCODE dbSUPER 31.9 +956.5 956476 3.1 CREB3L1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 NFYC TBX21 ZNF610 PSORS1C3 ENSG00000272501 POU5F1 PSORS1C2 PRRT1 HLA-C GNL1 EHMT2 CCHCR1 HCG17
GH06G033016 1.9 FANTOM5 Ensembl ENCODE dbSUPER 20.9 -864.5 -864495 5.0 PKNOX1 ZNF493 ARID4B SIN3A ZNF2 YY1 ZNF121 GLIS2 ZNF143 KLF7 HCG25 HLA-DQA2 PPT2 HLA-DPB1 HLA-DPA1 RXRB HLA-DQB2 HLA-DMA COL11A2 BRD2
GH06G032243 1.2 Ensembl ENCODE 31.9 -90.3 -90335 1.4 CREB3L1 ARNT ZNF493 ARID4B ZNF2 ZNF48 ZNF121 GLIS2 ZNF143 KLF7 PPT2 EGFL8 LY6G5B ATF6B HLA-DRB1 LSM2 PRRT1 DDX39B BRD2 RXRB
GH06G031353 1.8 FANTOM5 Ensembl ENCODE dbSUPER 20.9 +798.2 798182 7.0 HDGF PKNOX1 ATF1 ZNF493 WRNIP1 ZFP64 SIN3A NSD2 ZNF2 GLIS2 HLA-C LY6G5B CCHCR1 PPT2 LSM2 ATF6B DDX39B HLA-B ENSG00000271581 TCF19
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRRT1 on UCSC Golden Path with GeneCards custom track

Promoters for PRRT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000320271 43 601 HDGF ATF1 ARNT CREB3L1 ARID4B DMAP1 THRB RAD21 THAP11 KLF11

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

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:
    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

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

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

COMPARTMENTS
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 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

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 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
PRRT1
ECgene alternative splicing isoforms for
PRRT1

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:

PRRT1

SOURCE GeneReport for Unigene cluster for PRRT1 Gene:

Hs.699821

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia PRRT1 34 35
  • 99.67 (n)
mouse
(Mus musculus)
Mammalia Prrt1 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRRT1 35
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRRT1 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRRT1 34 35
  • 91.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PRRT1 35
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRRT1 35
  • 73 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii prrt1 35
  • 59 (a)
OneToOne
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

ENSEMBL:
Gene Tree for PRRT1 (if available)
TreeFam:
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 Sequence Context AA Info Type
VAR_036212 A breast cancer sample
rs1000611882 -- 32,151,289(+) TTAAT(A/G)TGTGC intron-variant
rs1000940084 -- 32,151,594(+) CCATG(C/T)TGTTG intron-variant, upstream-variant-2KB
rs1001946289 -- 32,153,513(+) TCGCT(A/T)ATAGG intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1002397740 -- 32,153,171(+) CACCA(G/T)TCTGA nc-transcript-variant, upstream-variant-2KB

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)

Relevant External Links for PRRT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

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) Sallman Almen M. … Schioth H.B. (PLoS ONE 2012) 3 4 64
  2. Genetic association of the major histocompatibility complex with rheumatoid arthritis implicates two non-DRB1 loci. (PMID: 19116923) Vignal C. … Wilson A.G. (Arthritis Rheum. 2009) 3 46 64
  3. 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) 3 46 64
  4. 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) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for PRRT1 Gene

Sources for PRRT1 Gene

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