Aliases &
Descriptions
for PRPH gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| peripherin1 2 | | PRPH11 2 3 | | NEF42 3 | | neurofilament 4 (57kD)2 | | Neurofilament 43 |
Export aliases for PRPH gene to outside databasesPrevious GC identifers: GC12M049560 GC12P049720 GC12P049405 GC12P047975 GC12P047973 GC12P049687 |
Summaries
for PRPH gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for PRPH:
This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is atype III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a differentprotein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibilityto amyotrophic lateral sclerosis. (provided by RefSeq)
UniProtKB/Swiss-Prot: PERI_HUMAN, P41219Function: Class-III neuronal intermediate filament protein
|
Genomic Views
for PRPH gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PRPH gene promoter:
GCNF-1 GCNF-2 MyoD NF-1 NRSF form 1 YY1 NRSF form 2 Pax-5 GR-alpha GR-beta
Other transcription factors
Search SABiosciences Chromatin IP Primers for PRPH
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for PRPH  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q12-q13 Ensembl cytogenetic band: 12q13.12 HGNC cytogenetic band: 12q12-q13PRPH Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P046719: view genomic region
(about GC identifiers)
Start:
|
46,719,777 bp from pter |
End:
|
46,723,549 bp from pter |
Size:
|
3,773 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr12+ 49,687,485-49,692,465 |
RefSeq DNA sequence:- NC_000012.11 NT_029419.12
|
Proteins
for PRPH gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: PERI_HUMAN, P41219 (See
protein sequence)Recommended Name: Peripherin Size: 470 amino acids; 53651 Da
Secondary accessions: Q8N577Alternative splicing: 2 isoforms: P41219-1 P41219-2 Explore the universe of human proteins at neXtProt for PRPH: NX_P41219
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_006253.2
ENSEMBL proteins: ENSP00000408897 ENSP00000257860
Human Recombinant Proteins
5 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
PRPH for ontologies About GeneDecksing
Antibodies for PRPH:
Assays for PRPH: |
Protein
Domains/
Families
for PRPH gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PRPH for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P41219ProtoNet protein and cluster: P41219 1 Blocks protein family: IPB001664 Intermediate filament protein
UniProtKB/Swiss-Prot: PERI_HUMAN, P41219Similarity: Belongs to the intermediate filament family |
Gene Function
for PRPH gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: PERI_HUMAN, P41219Function: Class-III neuronal intermediate filament protein
Genatlas biochemistry entry for PRPH:peripherin,neuronal,intermediate filament associated protein (IFAP,type III)2 Gene Ontology (GO) molecular function terms (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005198 | structural molecule activity |
IEA | -- | | GO:0005515 | protein binding |
-- | -- |
About this table
PRPH for ontologies About GeneDecksing
Animal Models: 1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Prph):
PRPH for phenotypes About GeneDecksing
|
Pathways & Interactions
for PRPH gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
PRPH for pathways About GeneDecksing
1  Millipore Pathway for PRPH
1  Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for PRPH
1  Kegg Pathway (Kegg details for PRPH):  | hsa05014 Amyotrophic lateral sclerosis (ALS) |
SABiosciences Custom Pathway-Focused PCR Arrays for PRPH
Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for PRPH
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PRPH
1 Interacting protein for PRPH (P412192) via UniProtKB, MINT, and/or STRINGAbout this table
1 Gene Ontology (GO) biological process term (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0045104 | intermediate filament cytoskeleton organization |
-- | -- |
About this table
PRPH for ontologies About GeneDecksing
|
Drugs & Compounds
for PRPH gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
 Browse Tocris compounds for PRPH
|
Transcripts
for PRPH gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for PRPH gene: NM_006262.3 Additional cDNA sequence: AK125587.1 BC032703.1 CR591176.1 CR596536.1 CR598826.1 CR605251.1 CR605475.1 CR609048.1 CR609614.1 CR610243.1 CR615736.1 CR620795.1 CR624218.1 CR624274.1 6 DOTS entries: DT.410048 DT.100036479 DT.100778449 DT.100778456 DT.100832904 DT.100679296 24/111 AceView cDNA sequences (see all 111): AA417001 BQ128259 BQ722243 BG818891 AA427957 CR610243 BQ720548 BI963163 BU737271 CR620795 BQ898223 BQ069706 BC032703 CR609614 CR605251 NM_006262 CR591176 AI125438 BQ669826 BX282027 CR605475 CR624218 CR624274 CR598826
 highest scoring ESTs for PRPH:AA417001 AA417186 AA427957 AA460760 AA975388 AI023248 AI125438 AI272354 AK125587 AL514681 Unigene Cluster for PRPH: Peripherin Hs.37044 [show with all ESTs]Unigene Representative Sequence: AK125587
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for PRPH
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10 |
|---|
|
| SP1: | | | | | | | - | | | | | | - | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | - | | | | | | - | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
About this scheme
ECgene alternative splicing isoforms for PRPH
2 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000451891 ENST00000257860(uc001rtu.2)
|
Expression
for PRPH gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| PRPH expression in normal and diseased human tissues
1 / 2 / 3 3 probe-sets matching PRPH gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 36298_at2, 3
|
U95-A |
1 |
0.81 |
1.00 |
1.00 |
1.00 |
L14565 |
0.20 |
1.00 |
0.72 |
1 |
| 213847_at2, 3
|
U133-A |
1 |
0.82 |
1.00 |
-- |
-- |
NM_006262 |
0.60 |
1.00 |
0.82 |
1 |
| 213847_at2
|
U133Plus2 |
1 |
0.82 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
PRPH for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: TCCCGATAAG
SOURCE GeneReport for Unigene cluster: Hs.37044
Expression variation in blood from EXPOLDB for PRPH SABiosciences Custom PCR Arrays for PRPH
|
Orthologs
for PRPH gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for PRPH gene from 5/7 species (see all 7)
About this table Species with no ortholog for PRPH
ENSEMBL Gene Tree for PRPH (if available) |
Paralogs
for PRPH gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for PRPH gene
- DES2 NEFM2 VIM2 INA2 NEFH2 GFAP2
PRPH for paralogs About GeneDecksing
|
Genomic Variants
for PRPH gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 12 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for PRPH (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PRPH
1 CNV: 66218 | | QIAGEN SeqTarget long-range PCR primers for resequencing PRPH |
|
Disorders & Mutations
for PRPH gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PRPH for disorders About GeneDecksing
OMIM: 170710 disorders: 105400 Human Gene Mutation Database (HGMD): PRPH
Genetic Association Database (GAD): PRPH
Human Genome Epidemiology (HuGE) Navigator: PRPH (9 documents)
Export disorders and mutations for PRPH gene to outside databases
|
Medical News
for PRPH gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for PRPH gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/30 PubMed articles for PRPH gene, integrated from 7 sources (see all 30):
(articles sorted by number of sources associating them with PRPH)- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. (PubMed id 15322088)1, 4 Gros-Louis F....Julien J.P. (2004)
- Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PubMed id 11835375)1, 4 Boerkoel C.F.... Lupski J.R. (2002)
- The structure of the human peripherin gene (PRPH) and identification of potential regulatory elements. (PubMed id 7806235)1, 2 Foley J.... Parysek L.M. (1994)
- Chromosomal localisation of the mouse and human peripherin genes. (PubMed id 1378416)1, 3 Moncla A....Portier M.M. (1992)
- Distinct biochemical signatures characterize peripher in isoform expression in both traumatic neuronal injury and motor neuron diseas e. (PubMed id 20533992)1 McLean J....Robertson J. (2010)
- Protein kinase Cepsilon binds peripherin and induces its aggregation, which is accompanied by apoptosis of neuroblastoma cells. (PubMed id 18408015)1 Sunesson L....Larsson C. (2008)
- A comparative immunohistochemical analysis of small round cell tumors of childhood: utility of peripherin and alpha-internexin as markers for neuroblastomas. (PubMed id 18528283)1 Willoughby V....Donner L.R. (2008)
- An aggregate-inducing peripherin isoform generated through intron retention is upregulated in amyotrophic lateral sclerosis and associated with disease pathology. (PubMed id 18287500)1 Xiao S....Robertson J. (2008)
- Transgenic mice expressing the Peripherin-EGFP genomic reporter display intrinsic peripheral nervous system fluorescence. (PubMed id 18709437)1 McLenachan S....Sarsero J.P. (2008)
|
External Searches for PRPH gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing PRPH gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing PRPH gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PRPH gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| Wikipedia | http://en.wikipedia.org/wiki/Peripherin |
|
| | |
About This Section
| Patent Information for PRPH gene:
Search GeneIP for patents involving PRPH
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for PRPH gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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 |  |  |  | |
| |  | Search Tocris compounds for PRPH |
| |  |  |  |  | | | | |
 | | | ELISAs and CLIAs for PRPH |
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