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PRPH peripherin [ Homo sapiens (human) ]

Gene ID: 5630, updated on 6-Jul-2014
Official Symbol
PRPHprovided by HGNC
Official Full Name
peripherinprovided by HGNC
Primary source
HGNC:9461
See related
HPRD:01365; MIM:170710
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]
See PRPH in Epigenomics, MapViewer
Location:
12q12-q13
Exon count :
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (49295013..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 uncharacterized LOC102723916 Neighboring gene tubulin, alpha 1c Neighboring gene uncharacterized LOC101927267 Neighboring gene trophinin associated protein Neighboring gene complement component 1, q subcomponent-like 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
  • 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), 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), 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
intermediate filament cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
C-fiber IEA
Inferred from Electronic Annotation
more info
 
intermediate filament TAS
Traceable Author Statement
more info
PubMed 
neurofilament IEA
Inferred from Electronic Annotation
more info
 
photoreceptor outer segment membrane IEA
Inferred from Electronic Annotation
more info
 
type III intermediate filament IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
peripherin
Names
peripherin
neurofilament 4 (57kD)

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 

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

mRNA and Protein(s)

  1. NM_006262.3NP_006253.2  peripherin

    See proteins identical to NP_006253.2

    Status: REVIEWED

    Source sequence(s)
    AA460760, AK125587, BC032703
    Consensus CDS
    CCDS8783.1
    UniProtKB/TrEMBL
    B3KWQ6
    UniProtKB/Swiss-Prot
    P41219
    Conserved Domains (3) summary
    pfam00038
    Location:96406
    Blast Score: 950
    Filament; Intermediate filament protein
    pfam04732
    Location:1395
    Blast Score: 168
    Filament_head; Intermediate filament head (DNA binding) region
    cl12013
    Location:199373
    Blast Score: 84
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    49295013..49298698
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269025.1XP_005269082.1  

    See proteins identical to XP_005269082.1

    UniProtKB/Swiss-Prot
    P41219
    Conserved Domains (3) summary
    pfam00038
    Location:96406
    Blast Score: 949
    Filament; Intermediate filament protein
    pfam04732
    Location:1395
    Blast Score: 168
    Filament_head; Intermediate filament head (DNA binding) region
    cl12013
    Location:199373
    Blast Score: 84
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. XM_006719503.1XP_006719566.1  

    Conserved Domains (1) summary
    pfam04732
    Location:1395
    Blast Score: 137
    Filament_head; Intermediate filament head (DNA binding) region

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    46719777..46723549
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    49654607..49658179
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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