KEGG   Homo sapiens (human): 79139Help
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 (ALS)
Module
hsa_M00403  HRD1/SEL1 ERAD complex
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 diseases
   05014 Amyotrophic lateral sclerosis (ALS)
    79139 (DERL1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: DER1 DUF3341
Motif
Other DBs
NCBI-GeneID: 79139
NCBI-ProteinID: NP_077271
OMIM: 608813
HGNC: 28454
Ensembl: ENSG00000136986
Vega: OTTHUMG00000165080
Pharos: Q9BUN8(Tbio)
UniProt: Q9BUN8 A0A024R9G3
Position
8q24.13
AA seq 251 aa AA seqDB search
MSDIGDWFRSIPAITRYWFAATVAVPLVGKLGLISPAYLFLWPEAFLYRFQIWRPITATF
YFPVGPGTGFLYLVNLYFLYQYSTRLETGAFDGRPADYLFMLLFNWICIVITGLAMDMQL
LMIPLIMSVLYVWAQLNRDMIVSFWFGTRFKACYLPWVILGFNYIIGGSVINELIGNLVG
HLYFFLMFRYPMDLGGRNFLSTPQFLYRWLPSRRGGVSGFGVPPASMRRAADQNGGGGRH
NWGQGFRLGDQ
NT seq 756 nt NT seq  +upstreamnt  +downstreamnt
atgtcggacatcggagactggttcaggagcatcccggcgatcacgcgctattggttcgcc
gccaccgtcgccgtgcccttggtcggcaaactcggcctcatcagcccggcctacctcttc
ctctggcccgaagccttcctttatcgctttcagatttggaggccaatcactgccaccttt
tatttccctgtgggtccaggaactggatttctttatttggtcaatttatatttcttatat
cagtattctacgcgacttgaaacaggagcttttgatgggaggccagcagactatttattc
atgctcctctttaactggatttgcatcgtgattactggcttagcaatggatatgcagttg
ctgatgattcctctgatcatgtcagtactttatgtctgggcccagctgaacagagacatg
attgtatcattttggtttggaacacgatttaaggcctgctatttaccctgggttatcctt
ggattcaactatatcatcggaggctcggtaatcaatgagcttattggaaatctggttgga
catctttattttttcctaatgttcagatacccaatggacttgggaggaagaaattttcta
tccacacctcagtttttgtaccgctggctgcccagtaggagaggaggagtatcaggattt
ggtgtgccccctgctagcatgaggcgagctgctgatcagaatggcggaggcgggagacac
aactggggccagggctttcgacttggagaccagtga

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