KEGG   Homo sapiens (human): 5630Help
Entry
5630              CDS       T01001                                 

Gene name
PRPH, NEF4, PRPH1
Definition
(RefSeq) peripherin
  KO
K07607  peripherin
Organism
hsa  Homo sapiens (human)
Pathway
hsa05014  Amyotrophic lateral sclerosis (ALS)
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative diseases
   05014 Amyotrophic lateral sclerosis (ALS)
    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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Filament Filament_head BLOC1_2 BRE1 Spc29 DUF3944 Laminin_II HALZ Baculo_PEP_C
Motif
Other DBs
NCBI-GeneID: 5630
NCBI-ProteinID: NP_006253
OMIM: 170710
HGNC: 9461
Ensembl: ENSG00000135406
Vega: OTTHUMG00000167140
Pharos: P41219(Tbio)
UniProt: P41219 B3KWQ6
Position
12q13.12
AA seq 470 aa AA seqDB search
MSHHPSGLRAGFSSTSYRRTFGPPPSLSPGAFSYSSSSRFSSSRLLGSASPSSSVRLGSF
RSPRAGAGALLRLPSERLDFSMAEALNQEFLATRSNEKQELQELNDRFANFIEKVRFLEQ
QNAALRGELSQARGQEPARADQLCQQELRELRRELELLGRERDRVQVERDGLAEDLAALK
QRLEEETRKREDAEHNLVLFRKDVDDATLSRLELERKIESLMDEIEFLKKLHEEELRDLQ
VSVESQQVQQVEVEATVKPELTAALRDIRAQYESIAAKNLQEAEEWYKSKYADLSDAANR
NHEALRQAKQEMNESRRQIQSLTCEVDGLRGTNEALLRQLRELEEQFALEAGGYQAGAAR
LEEELRQLKEEMARHLREYQELLNVKMALDIEIATYRKLLEGEESRISVPVHSFASLNIK
TTVPEVEPPQDSHSRKTVLIKTIETRNGEVVTESQKEQRSELDKSSAHSY
NT seq 1413 nt NT seq  +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

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