Details for: PRPH

Gene ID: 5630

Symbol: PRPH

Ensembl ID: ENSG00000135406

Description: peripherin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 3.4662
    Cell Significance Index: 75.1000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 2.4705
    Cell Significance Index: 79.1300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.6139
    Cell Significance Index: 101.7200
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 1.3881
    Cell Significance Index: 14.4600
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: 1.2251
    Cell Significance Index: 14.1100
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.9857
    Cell Significance Index: 8.2800
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.8190
    Cell Significance Index: 6.7600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7089
    Cell Significance Index: 70.1300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6640
    Cell Significance Index: 599.5300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.6233
    Cell Significance Index: 13.2800
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.5752
    Cell Significance Index: 4.4700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4719
    Cell Significance Index: 51.3300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.4436
    Cell Significance Index: 26.6300
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.4145
    Cell Significance Index: 3.0000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4000
    Cell Significance Index: 65.0500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2572
    Cell Significance Index: 17.7900
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.2139
    Cell Significance Index: 3.0400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.2027
    Cell Significance Index: 10.6400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1914
    Cell Significance Index: 10.7400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1673
    Cell Significance Index: 31.8400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.1042
    Cell Significance Index: 65.0700
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.1000
    Cell Significance Index: 1.1100
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.0965
    Cell Significance Index: 1.0000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0768
    Cell Significance Index: 11.1700
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.0457
    Cell Significance Index: 0.5700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0250
    Cell Significance Index: 3.2000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0108
    Cell Significance Index: 0.4900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0108
    Cell Significance Index: 0.3100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0086
    Cell Significance Index: 3.0900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0071
    Cell Significance Index: 0.2500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0016
    Cell Significance Index: 2.9700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0016
    Cell Significance Index: -0.6900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0041
    Cell Significance Index: -3.0700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0043
    Cell Significance Index: -2.4300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0068
    Cell Significance Index: -0.7800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0073
    Cell Significance Index: -13.4200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0080
    Cell Significance Index: -0.4900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0081
    Cell Significance Index: -5.1500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0091
    Cell Significance Index: -13.9900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0105
    Cell Significance Index: -14.2800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0128
    Cell Significance Index: -9.4200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0151
    Cell Significance Index: -2.5800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0183
    Cell Significance Index: -10.0200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0189
    Cell Significance Index: -8.6000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0215
    Cell Significance Index: -4.5300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0279
    Cell Significance Index: -0.4200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0349
    Cell Significance Index: -0.9800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0353
    Cell Significance Index: -1.7800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0363
    Cell Significance Index: -6.5500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0380
    Cell Significance Index: -4.3500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0390
    Cell Significance Index: -11.2300
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.0436
    Cell Significance Index: -0.5500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0448
    Cell Significance Index: -1.8400
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: -0.0467
    Cell Significance Index: -0.3800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0528
    Cell Significance Index: -5.3900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0552
    Cell Significance Index: -6.7900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0552
    Cell Significance Index: -11.0800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0576
    Cell Significance Index: -6.7100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0694
    Cell Significance Index: -1.4400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0832
    Cell Significance Index: -11.4300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0839
    Cell Significance Index: -3.9100
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: -0.0840
    Cell Significance Index: -0.9000
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.0864
    Cell Significance Index: -0.8700
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0968
    Cell Significance Index: -1.1000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0988
    Cell Significance Index: -6.0700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1021
    Cell Significance Index: -13.2000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1077
    Cell Significance Index: -11.2100
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.1079
    Cell Significance Index: -0.5700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1207
    Cell Significance Index: -9.5600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1371
    Cell Significance Index: -7.1400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1372
    Cell Significance Index: -8.8500
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: -0.1406
    Cell Significance Index: -0.8700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1460
    Cell Significance Index: -9.8200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1462
    Cell Significance Index: -3.9800
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: -0.1683
    Cell Significance Index: -0.9200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1779
    Cell Significance Index: -13.2600
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.1862
    Cell Significance Index: -2.5500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1887
    Cell Significance Index: -3.9500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1957
    Cell Significance Index: -6.8000
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.1961
    Cell Significance Index: -2.8200
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.1984
    Cell Significance Index: -3.4200
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.2011
    Cell Significance Index: -1.9900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2120
    Cell Significance Index: -5.6800
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -0.2150
    Cell Significance Index: -2.2300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2164
    Cell Significance Index: -11.2400
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.2186
    Cell Significance Index: -5.4600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2244
    Cell Significance Index: -4.3800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2261
    Cell Significance Index: -10.6300
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.2362
    Cell Significance Index: -3.7900
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: -0.2396
    Cell Significance Index: -2.6400
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.2444
    Cell Significance Index: -3.3800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2575
    Cell Significance Index: -4.3100
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: -0.2672
    Cell Significance Index: -2.8300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2749
    Cell Significance Index: -6.0200
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.2880
    Cell Significance Index: -3.3600
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.2890
    Cell Significance Index: -3.9300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3075
    Cell Significance Index: -9.0300
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.3211
    Cell Significance Index: -8.1800
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: -0.3222
    Cell Significance Index: -5.1800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3246
    Cell Significance Index: -9.5600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** Peripherin is a type III intermediate filament protein that is specifically expressed in cells of the peripheral nervous system, including primary sensory neurons, motor neurons, and inhibitory motor neurons. Its expression is also observed in other cell types, such as chromaffin cells, colon goblet cells, and enterocytes of the large intestine. Notably, peripherin is not expressed in hematopoietic cells, which distinguishes it from other intermediate filament proteins. The peripherin protein is characterized by its unique structure, which consists of four alpha-helices and a C-terminal globular domain. This structure allows peripherin to interact with other intermediate filament proteins, such as neurofilament light chain (NfL) and synemin, to form stable filaments that provide mechanical support to cells. **Pathways and Functions:** Peripherin plays a critical role in maintaining the structural integrity of cells, particularly in the context of axonal transport and neuronal function. Its expression in primary sensory neurons and motor neurons suggests that peripherin is involved in the transport of molecules along axons, which is essential for neuronal function and development. In addition to its role in neuronal function, peripherin is also involved in the regulation of cell proliferation and differentiation in the immune system. Its expression in neural progenitor cells and germ cells suggests that peripherin may play a role in the development and maintenance of the immune system. **Clinical Significance:** The clinical significance of peripherin is an area of active research, with several potential implications for disease pathology. For example, studies have shown that mutations in the PRPH gene are associated with neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Furthermore, peripherin's role in axonal transport and neuronal function suggests that it may be involved in the pathogenesis of neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. Additionally, peripherin's expression in immune cells and its potential role in regulating cell proliferation and differentiation suggest that it may be involved in the pathogenesis of autoimmune diseases. In conclusion, peripherin is a structural molecule that plays a critical role in maintaining the structural integrity of cells, particularly in the context of axonal transport and neuronal function. Its expression in immune cells and its potential role in regulating cell proliferation and differentiation suggest that peripherin may have significant implications for disease pathology. Further research is needed to fully elucidate the role of peripherin in the immune system and its potential therapeutic applications. References: * [Insert relevant references] Note: This article is a summary of the gene PRPH (peripherin) and its characteristics, pathways, and functions, as well as its clinical significance. The references provided are fictional and are not real references.

Genular Protein ID: 4281680456

Symbol: PERI_HUMAN

Name: Peripherin

UniProtKB Accession Codes:

P41219 Q8N577

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 1 ExpressionAtlas 1 GO 9 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7806235

Title: The structure of the human peripherin gene (PRPH) and identification of potential regulatory elements.

PubMed ID: 7806235

DOI: 10.1006/geno.1994.1410

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18408015

Title: Protein kinase Cepsilon binds peripherin and induces its aggregation, which is accompanied by apoptosis of neuroblastoma cells.

PubMed ID: 18408015

DOI: 10.1074/jbc.m710436200

PubMed ID: 21088854

Title: Expression of peripherin in human cochlea.

PubMed ID: 21088854

DOI: 10.1007/s00441-010-1081-6

PubMed ID: 23179371

Title: Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin.

PubMed ID: 23179371

DOI: 10.1007/s00401-012-1063-8

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 15446584

Title: A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.

PubMed ID: 15446584

DOI: 10.1111/j.1750-3639.2004.tb00066.x

PubMed ID: 15322088

Title: A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis.

PubMed ID: 15322088

DOI: 10.1074/jbc.m408139200

PubMed ID: 20363051

Title: A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient.

PubMed ID: 20363051

DOI: 10.1016/j.neurobiolaging.2010.02.011

Sequence Information:

  • Length: 470
  • Mass: 53651
  • Checksum: 4ABEAB96088719D6
  • Sequence:
    • MSHHPSGLRA GFSSTSYRRT FGPPPSLSPG AFSYSSSSRF SSSRLLGSAS PSSSVRLGSF 
RSPRAGAGAL LRLPSERLDF SMAEALNQEF LATRSNEKQE LQELNDRFAN FIEKVRFLEQ 
QNAALRGELS QARGQEPARA DQLCQQELRE LRRELELLGR ERDRVQVERD GLAEDLAALK 
QRLEEETRKR EDAEHNLVLF RKDVDDATLS RLELERKIES LMDEIEFLKK LHEEELRDLQ 
VSVESQQVQQ VEVEATVKPE LTAALRDIRA QYESIAAKNL QEAEEWYKSK YADLSDAANR 
NHEALRQAKQ EMNESRRQIQ SLTCEVDGLR GTNEALLRQL RELEEQFALE AGGYQAGAAR 
LEEELRQLKE EMARHLREYQ ELLNVKMALD IEIATYRKLL EGEESRISVP VHSFASLNIK 
TTVPEVEPPQ DSHSRKTVLI KTIETRNGEV VTESQKEQRS ELDKSSAHSY

Genular Protein ID: 666805711

Symbol: B3KWQ6_HUMAN

Name: N/A

UniProtKB Accession Codes:

B3KWQ6

Database IDs:

ARBA 2 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 6 Gene3D 3 InterPro 5 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 3 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 1 RuleBase 1 SAM 2 SMART 1 SUPFAM 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 470
  • Mass: 53681
  • Checksum: 5AB3C6EA698A74A6
  • Sequence:
    • MSHHPSGLRA GFSSTSYRRT FGPPPSLSPG AFSYSSSSRF SSSRLLGSAS PSSSVRLGSF 
RSPRAGAGAL LRLPSERLDF SMAEALNQEF LATRSNEKQE LQELNDRFAN FIEKVRFLEQ 
QNAALRGELS QARGQEPARA DQLCQQELRE LRRELELLGR ERDRVQVERD GLAEDLAALK 
QRLEEETRKR EDAEHNLVLF RKDVDDATLS RLELERKIES LMDEIEFLKK LHEEELRDLQ 
VSVESQQVQQ VEVEATVKPE LTAALRDIRA QYESIATKNL QEAEEWYKSK YADLSDAANR 
NHEALRQAKQ EMNESRRQIQ SLTCEVDGLR GTNEALLRQL RELEEQFALE AGGYQAGAAR 
LEEELRQLKE EMARHLREYQ ELLNVKMALD IEIATYRKLL EGEESRISVP VHSFASLNIK 
TTVPEVEPPQ DSHSRKTVLI KTIETRNGEV VTESQKEQRS ELDKSSAHSY

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.