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PRPH peripherin [ Homo sapiens (human) ]

Gene ID: 5630, updated on 4-Nov-2018

Summary

Official Symbol
PRPHprovided by HGNC
Official Full Name
peripherinprovided by HGNC
Primary source
HGNC:HGNC:9461
See related
Ensembl:ENSG00000135406 MIM:170710; Vega:OTTHUMG00000167140
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NEF4; PRPH1
Summary
This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]
Annotation information
Note: PRPH (Gene ID: 5630) and PRPH2 (Gene ID: 5961) share the PRPH symbol/alias in common. PRPH is sometimes used as an alternative name for peripherin 2 (PRPH2), which can be confused with the official symbol for peripherin (PRPH). [05 Jul 2018]
Expression
Biased expression in testis (RPKM 11.3), adrenal (RPKM 6.4) and 6 other tissues See more
Orthologs

Genomic context

See PRPH in Genome Data Viewer
Location:
12q13.12
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (49295126..49298698)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (49688796..49692481)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene tubulin alpha 1a Neighboring gene tubulin alpha 1c Neighboring gene uncharacterized LOC101927267 Neighboring gene trophinin associated protein Neighboring gene complement C1q like 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Amyotrophic lateral sclerosis type 1 Compare labs

NHGRI GWAS Catalog

Description
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.
NHGRI GWA Catalog

Pathways from BioSystems

  • Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from KEGG)
    Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
  • Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from WikiPathways)
    Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
  • Amyotrophic lateral sclerosis (ALS), conserved biosystem (from KEGG)
    Amyotrophic lateral sclerosis (ALS), conserved biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
intermediate filament TAS
Traceable Author Statement
more info
PubMed 
membrane HDA PubMed 
type III intermediate filament IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
peripherin
Names
neurofilament 4 (57kD)

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008354.1 RefSeqGene

    Range
    5001..8573
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006262.3NP_006253.2  peripherin

    See identical proteins and their annotated locations for NP_006253.2

    Status: REVIEWED

    Source sequence(s)
    AA460760, AK125587, BC032703
    Consensus CDS
    CCDS8783.1
    UniProtKB/Swiss-Prot
    P41219
    UniProtKB/TrEMBL
    B3KWQ6
    Related
    ENSP00000257860.4, OTTHUMP00000235301, ENST00000257860.8, OTTHUMT00000393381
    Conserved Domains (2) summary
    pfam00038
    Location:96406
    Filament; Intermediate filament protein
    pfam04732
    Location:1395
    Filament_head; Intermediate filament head (DNA binding) region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    49295126..49298698
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269025.2XP_005269082.1  peripherin isoform X1

    See identical proteins and their annotated locations for XP_005269082.1

    UniProtKB/Swiss-Prot
    P41219
    Conserved Domains (3) summary
    pfam00038
    Location:96406
    Filament; Intermediate filament protein
    pfam04732
    Location:1395
    Filament_head; Intermediate filament head (DNA binding) region
    cl12013
    Location:199373
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

RNA

  1. XR_944623.2 RNA Sequence

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