KEGG T01001: 5630

Homo sapiens (human): 5630

Entry

5630 CDS T01001

Gene name

PRPH, NEF4, PRPH1

Definition

peripherin

Orthology

K07607

peripherin

Organism

hsa Homo sapiens (human)

Pathway

hsa05014

Amyotrophic lateral sclerosis (ALS)

Disease

H00058

Amyotrophic lateral sclerosis (ALS)

Class

Human Diseases; Neurodegenerative diseases; Amyotrophic lateral sclerosis (ALS) [PATH:hsa05014]

SSDB

Motif

Pfam:

Filament Filament_head Myosin_tail_1 WEMBL Reo_sigmaC Laminin_II HR1 Baculo_PEP_C

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

UniProt:

Position

12q12-q13

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 (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (11)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (5)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   OC (1)   
Protein sequence (3)   
   UniProt (2)   
   RefSeq(pep) (1)   
DNA sequence (13)   
   RefSeq(nuc) (1)   
   GenBank (6)   
   EMBL (6)   
Protein domain (8)   
   Pfam (8)   
All databases (41)   

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