KEGG   Homo sapiens (human): 5630
Entry
5630              CDS       T01001                                 
Symbol
PRPH, NEF4, PRPH1
Name
(RefSeq) peripherin
  KO
K07607  peripherin
Organism
hsa  Homo sapiens (human)
Pathway
hsa05014  Amyotrophic lateral sclerosis
hsa05022  Pathways of neurodegeneration - multiple diseases
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    5630 (PRPH)
   05022 Pathways of neurodegeneration - multiple diseases
    5630 (PRPH)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    5630 (PRPH)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Intermediate filaments
   Intermediate filaments
    Type III
     5630 (PRPH)
SSDB
Motif
Pfam: Filament Filament_head BLOC1_2 Spc29 DUF3944 Laminin_II
Other DBs
NCBI-GeneID: 5630
NCBI-ProteinID: NP_006253
OMIM: 170710
HGNC: 9461
Ensembl: ENSG00000135406
UniProt: P41219 B3KWQ6
Position
12:49295147..49298686
AA seq 470 aa
MSHHPSGLRAGFSSTSYRRTFGPPPSLSPGAFSYSSSSRFSSSRLLGSASPSSSVRLGSF
RSPRAGAGALLRLPSERLDFSMAEALNQEFLATRSNEKQELQELNDRFANFIEKVRFLEQ
QNAALRGELSQARGQEPARADQLCQQELRELRRELELLGRERDRVQVERDGLAEDLAALK
QRLEEETRKREDAEHNLVLFRKDVDDATLSRLELERKIESLMDEIEFLKKLHEEELRDLQ
VSVESQQVQQVEVEATVKPELTAALRDIRAQYESIAAKNLQEAEEWYKSKYADLSDAANR
NHEALRQAKQEMNESRRQIQSLTCEVDGLRGTNEALLRQLRELEEQFALEAGGYQAGAAR
LEEELRQLKEEMARHLREYQELLNVKMALDIEIATYRKLLEGEESRISVPVHSFASLNIK
TTVPEVEPPQDSHSRKTVLIKTIETRNGEVVTESQKEQRSELDKSSAHSY
NT seq 1413 nt   +upstreamnt  +downstreamnt
atgagccaccacccgtcgggcctccgggccggcttcagctccacctcataccgccgtacc
ttcggtccaccgccctcactatcccccggggccttctcctactcgtccagctcccgcttc
tccagcagccgcctgctgggctccgcgtccccgagctcctcggtgcgcctgggcagcttc
cgtagcccccgagcgggagcgggcgccctcctgcgcctgccctcggagcgcctcgacttc
tccatggccgaggccctcaaccaggagttcctggccacgcgcagcaacgagaagcaggag
ctgcaggagctcaacgaccgcttcgccaacttcatcgagaaggtacgctttctggagcag
cagaacgcggccctgcgcggggagctgagccaagcccggggccaggagccggcgcgcgcc
gaccagctgtgccagcaggagctgcgcgagctgcggcgagagctggagctgttgggccgc
gagcgtgaccgggtgcaggtggagcgcgacgggctggcggaggacctggcggcgctcaag
cagaggttggaggaggagacgcgcaagcgggaggacgcggagcacaacctcgtgctcttc
cgcaaggacgtggacgatgccactctgtcccgcctggaactagagcgcaagattgagtct
ctgatggatgagattgagttcctcaagaagctgcacgaggaggagctgcgagacctgcag
gtgagtgtggagagccagcaggtgcagcaggtggaggtggaagccacggtgaagcccgag
ctgacggcagcgctgagggacatccgcgcgcagtacgagagcatcgccgcgaagaacctg
caggaggcggaggagtggtacaagtccaagtacgcggacctgtccgacgctgccaaccgg
aaccacgaggccctgcgccaggccaagcaggagatgaacgagtcccgacgccagatccag
agtctaacgtgcgaggtggacgggctgcgcggcacgaacgaggcgctgctcaggcagttg
agagagctggaggagcagttcgccctggaggcggggggctaccaggcgggcgctgcgcgg
ctcgaggaggagctgcgacagctaaaagaggagatggcgcggcacctgagggagtaccag
gagctcctcaacgtcaagatggccctggacatcgagatcgccacctaccgcaagctgctg
gagggcgaggagagccggatctccgtgcccgtccattcttttgcctccttaaatataaag
acgactgtgcctgaggtggagcctccccaggacagccacagccggaagacggttctgatc
aagaccattgagacccggaatggggaggtggtgacagagtcccagaaggagcagcgcagt
gagctggacaagtcttctgcccacagttactga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (4)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (9)   
   RefSeq(nuc) (1)   
   GenBank (4)   
   EMBL (4)   
Protein domain (6)   
   Pfam (6)   
All databases (39)   

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