KEGG   Homo sapiens (human): 79139
Entry
79139             CDS       T01001                                 

Gene name
DERL1, DER-1, DER1, derlin-1
Definition
(RefSeq) derlin 1
  KO
K11519  Derlin-1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04141  Protein processing in endoplasmic reticulum
hsa05014  Amyotrophic lateral sclerosis
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06420  Ubiquitin-proteasome system
nt06464  Amyotrophic lateral sclerosis
  Element
N01144  Mutation-caused aberrant SOD1 to 26S proteasome-mediated protein degradation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04141 Protein processing in endoplasmic reticulum
    79139 (DERL1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    79139 (DERL1)
   05022 Pathways of neurodegeneration - multiple diseases
    79139 (DERL1)
SSDB
Motif
Pfam: DER1 DUF3341
Other DBs
NCBI-GeneID: 79139
NCBI-ProteinID: NP_077271
OMIM: 608813
HGNC: 28454
Ensembl: ENSG00000136986
Vega: OTTHUMG00000165080
Pharos: Q9BUN8(Tbio)
UniProt: Q9BUN8 A0A024R9G3
LinkDB
Position
8q24.13
AA seq 251 aa
MSDIGDWFRSIPAITRYWFAATVAVPLVGKLGLISPAYLFLWPEAFLYRFQIWRPITATF
YFPVGPGTGFLYLVNLYFLYQYSTRLETGAFDGRPADYLFMLLFNWICIVITGLAMDMQL
LMIPLIMSVLYVWAQLNRDMIVSFWFGTRFKACYLPWVILGFNYIIGGSVINELIGNLVG
HLYFFLMFRYPMDLGGRNFLSTPQFLYRWLPSRRGGVSGFGVPPASMRRAADQNGGGGRH
NWGQGFRLGDQ
NT seq 756 nt   +upstreamnt  +downstreamnt
atgtcggacatcggagactggttcaggagcatcccggcgatcacgcgctattggttcgcc
gccaccgtcgccgtgcccttggtcggcaaactcggcctcatcagcccggcctacctcttc
ctctggcccgaagccttcctttatcgctttcagatttggaggccaatcactgccaccttt
tatttccctgtgggtccaggaactggatttctttatttggtcaatttatatttcttatat
cagtattctacgcgacttgaaacaggagcttttgatgggaggccagcagactatttattc
atgctcctctttaactggatttgcatcgtgattactggcttagcaatggatatgcagttg
ctgatgattcctctgatcatgtcagtactttatgtctgggcccagctgaacagagacatg
attgtatcattttggtttggaacacgatttaaggcctgctatttaccctgggttatcctt
ggattcaactatatcatcggaggctcggtaatcaatgagcttattggaaatctggttgga
catctttattttttcctaatgttcagatacccaatggacttgggaggaagaaattttcta
tccacacctcagtttttgtaccgctggctgcccagtaggagaggaggagtatcaggattt
ggtgtgccccctgctagcatgaggcgagctgctgatcagaatggcggaggcgggagacac
aactggggccagggctttcgacttggagaccagtga

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