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Prph peripherin [ Mus musculus (house mouse) ]

Gene ID: 19132, updated on 29-Jul-2014
Official Symbol
Prphprovided by MGI
Official Full Name
peripherinprovided by MGI
Primary source
MGI:97774
See related
Ensembl:ENSMUSG00000023484
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Prph1
See Prph in Epigenomics, MapViewer
Location:
15 E-F; 15 55.72 cM
Exon count:
11
Annotation release Status Assembly Chr Location
104 current GRCm38.p2 (GCF_000001635.22) 15 NC_000081.6 (99053572..99058978)

Chromosome 15 - NC_000081.6Genomic Context describing neighboring genes Neighboring gene 60S ribosomal protein L36 pseudogene Neighboring gene tubulin, alpha 1C Neighboring gene uncharacterized LOC102637490 Neighboring gene trophinin associated protein Neighboring gene microRNA mir-6960

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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 MGI

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
intermediate filament cytoskeleton organization IDA
Inferred from Direct Assay
more info
PubMed 
intermediate filament cytoskeleton organization ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
C-fiber IDA
Inferred from Direct Assay
more info
PubMed 
axon IDA
Inferred from Direct Assay
more info
PubMed 
intermediate filament IDA
Inferred from Direct Assay
more info
PubMed 
membrane ISO
Inferred from Sequence Orthology
more info
 
neurofilament IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body ISO
Inferred from Sequence Orthology
more info
PubMed 
photoreceptor outer segment membrane IDA
Inferred from Direct Assay
more info
PubMed 
type III intermediate filament ISO
Inferred from Sequence Orthology
more info
 
Preferred Names
peripherin
Names
peripherin
peripherin 1

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.

mRNA and Protein(s)

  1. NM_001163588.1NP_001157060.1  peripherin isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate acceptor splice site at the 3' terminal exon compared to variant 1. This results in an isoform (2) shorter by 1 aa compared to isoform 1.
    Source sequence(s)
    AK149021
    Conserved Domains (3) summary
    pfam00038
    Location:100442
    Blast Score: 904
    Filament; Intermediate filament protein
    pfam04732
    Location:2299
    Blast Score: 150
    Filament_head; Intermediate filament head (DNA binding) region
    cl01461
    Location:271410
    Blast Score: 90
    DUF2239; Uncharacterized protein conserved in bacteria (DUF2239)
  2. NM_001163589.1NP_001157061.1  peripherin isoform 3

    See proteins identical to NP_001157061.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) is alternatively spliced in the mid-region compared to variant 1. However, it remains in-frame and encodes a shorter isoform (3) missing a 32 aa protein segment compared to isoform 1.
    Source sequence(s)
    AK149021, CB723542
    Consensus CDS
    CCDS49727.1
    UniProtKB/TrEMBL
    G5E846
    Related
    ENSMUSP00000024249, ENSMUST00000024249
    Conserved Domains (2) summary
    pfam00038
    Location:100410
    Blast Score: 916
    Filament; Intermediate filament protein
    pfam04732
    Location:2299
    Blast Score: 150
    Filament_head; Intermediate filament head (DNA binding) region
  3. NM_013639.2NP_038667.2  peripherin isoform 1

    See proteins identical to NP_038667.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK149021, CB723542
    Consensus CDS
    CCDS27813.1
    UniProtKB/TrEMBL
    G3X981
    Related
    ENSMUSP00000049303, ENSMUST00000047104
    Conserved Domains (3) summary
    pfam00038
    Location:100442
    Blast Score: 903
    Filament; Intermediate filament protein
    pfam04732
    Location:2299
    Blast Score: 151
    Filament_head; Intermediate filament head (DNA binding) region
    cl01461
    Location:271410
    Blast Score: 90
    DUF2239; Uncharacterized protein conserved in bacteria (DUF2239)

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 104

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

Reference GRCm38.p2 C57BL/6J

Genomic

  1. NC_000081.6 

    Range
    99053572..99058978
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006520631.1XP_006520694.1  

    See proteins identical to XP_006520694.1

    UniProtKB/TrEMBL
    G3X981
    Conserved Domains (3) summary
    pfam00038
    Location:100442
    Blast Score: 903
    Filament; Intermediate filament protein
    pfam04732
    Location:2299
    Blast Score: 151
    Filament_head; Intermediate filament head (DNA binding) region
    cl01461
    Location:271410
    Blast Score: 90
    DUF2239; Uncharacterized protein conserved in bacteria (DUF2239)
  2. XM_006520632.1XP_006520695.1  

    Conserved Domains (3) summary
    pfam00038
    Location:100442
    Blast Score: 900
    Filament; Intermediate filament protein
    pfam04732
    Location:2299
    Blast Score: 151
    Filament_head; Intermediate filament head (DNA binding) region
    cl01461
    Location:271410
    Blast Score: 88
    DUF2239; Uncharacterized protein conserved in bacteria (DUF2239)

Alternate Mm_Celera

Genomic

  1. AC_000037.1 

    Range
    101208902..101212694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)