PRPH
entrez
5630
canonical
uniprot
P41219
canonical
ensembl
ENSG00000135406
resolver
ensp
ENSP00000257860
resolver
genesymbol
PRPH
resolver
genesymbol_syn
NEF4
resolver
genesymbol_syn
PRPH1
resolver
hgnc
HGNC:9461
resolver
uniprot
B3KWQ6
resolver
uniprot
Q8N577
resolver
uniprot_entry
B3KWQ6_HUMAN
resolver
uniprot_entry
PERI_HUMAN
resolver
uniprot_sec
Q8N577
resolver
amino_acid_sequence
MSHHPSGLRAGFSSTSYRRTFGPPPSLSPGAFSYSSSSRFSSSRLLGSASPSSSVRLGSFRSPRAGAGALLRLPSERLDFSMAEALNQEFLATRSNEKQELQELNDRFANFIEKVRFLEQQNAALRGELSQARGQEPARADQLCQQELRELRRELELLGRERDRVQVERDGLAEDLAALKQRLEEETRKREDAEHNLVLFRKDVDDATLSRLELERKIESLMDEIEFLKKLHEEELRDLQVSVESQQVQQVEVEATVKPELTAALRDIRAQYESIAAKNLQEAEEWYKSKYADLSDAANRNHEALRQAKQEMNESRRQIQSLTCEVDGLRGTNEALLRQLRELEEQFALEAGGYQAGAARLEEELRQLKEEMARHLREYQELLNVKMALDIEIATYRKLLEGEESRISVPVHSFASLNIKTTVPEVEPPQDSHSRKTVLIKTIETRNGEVVTESQKEQRSELDKSSAHSY
uniprot
proteins
disease_involvement
DISEASE: Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269|PubMed:15322088, ECO:0000269|PubMed:15446584, ECO:0000269|PubMed:20363051}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Class-III neuronal intermediate filament protein (By similarity). May form an independent structural network without the involvement of other neurofilaments or may cooperate with the neuronal intermediate filament proteins NEFL, NEFH, NEFM and INA to form a filamentous network (PubMed:15322088, PubMed:15446584). Assembly of the neuronal intermediate filaments may be regulated by RAB7A (By similarity). Plays a role in the development of unmyelinated sensory neurons (By similarity). May be involved in axon elongation and axon regeneration after injury (By similarity). Inhibits neurite extension in type II spiral ganglion neurons in the cochlea (By similarity). {ECO:0000250|UniProtKB:P15331, ECO:0000250|UniProtKB:P21807, ECO:0000269|PubMed:15322088, ECO:0000269|PubMed:15446584}.
uniprot
proteins
mass_dalton
53651
uniprot
proteins
post_translational_modification
PTM: Phosphorylated; phosphorylation increases after nerve injury in regenerating neurons. {ECO:0000250|UniProtKB:P21807}.
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
15322088
uniprot
proteins
pubmed
15446584
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
18408015
uniprot
proteins
pubmed
20363051
uniprot
proteins
pubmed
21088854
uniprot
proteins
pubmed
23179371
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
7806235
uniprot
proteins
sequence_length
470
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15322088, ECO:0000269|PubMed:15446584, ECO:0000269|PubMed:18408015}. Cell projection, axon {ECO:0000250|UniProtKB:P15331}. Perikaryon {ECO:0000250|UniProtKB:P15331}.
uniprot
proteins