KEGG   Homo sapiens (human): 10280
Entry
10280             CDS       T01001                                 
Symbol
SIGMAR1, ALS16, DSMA2, HMNR2, OPRS1, SIG-1R, SR-BP, SR-BP1, SRBP, hSigmaR1, sigma1R
Name
(RefSeq) sigma non-opioid intracellular receptor 1
  KO
K20719  sigma non-opioid intracellular receptor
Organism
hsa  Homo sapiens (human)
Pathway
hsa05014  Amyotrophic lateral sclerosis
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
  Element
N01151  Mutation-inactivated SIGMAR1 to Ca2+ -apoptotic pathway
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
H00856  Distal hereditary motor neuropathies
Drug target
Blarcamesine (DG03048): D11383 D11549
Captodiame: D07316
Dextromethorphan (DG01078): D00848<JP> D03742 D03744
Fenfluramine (DG00103): D04148<JP/US> D07945
Igmesine hydrochloride: D04502
Opipramol (DG00930): D01477 D08297
Rimcazole hydrochloride: D02684
Tiospirone hydrochloride: D02688
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    10280 (SIGMAR1)
   05022 Pathways of neurodegeneration - multiple diseases
    10280 (SIGMAR1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    10280 (SIGMAR1)
Transporters [BR:hsa02000]
 Other transporters
  Accessory factors involved in transport [TC:8]
   10280 (SIGMAR1)
SSDB
Motif
Pfam: ERG2_Sigma1R
Other DBs
NCBI-GeneID: 10280
NCBI-ProteinID: NP_005857
OMIM: 601978
HGNC: 8157
Ensembl: ENSG00000147955
UniProt: Q99720
Structure
Position
9:complement(34634722..34637787)
AA seq 223 aa
MQWAVGRRWAWAALLLAVAAVLTQVVWLWLGTQSFVFQREEIAQLARQYAGLDHELAFSR
LIVELRRLHPGHVLPDEELQWVFVNAGGWMGAMCLLHASLSEYVLLFGTALGSRGHSGRY
WAEISDTIISGTFHQWREGTTKSEVFYPGETVVHGPGEATAVEWGPNTWMVEYGRGVIPS
TLAFALADTVFSTQDFLTLFYTLRSYARGLRLELTTYLFGQDP
NT seq 672 nt   +upstreamnt  +downstreamnt
atgcagtgggccgtgggccggcggtgggcgtgggccgcgctgctcctggctgtcgcagcg
gtgctgacccaggtcgtctggctctggctgggtacgcagagcttcgtcttccagcgcgaa
gagatagcgcagttggcgcggcagtacgctgggctggaccacgagctggccttctctcgt
ctgatcgtggagctgcggcggctgcacccaggccacgtgctgcccgacgaggagctgcag
tgggtgttcgtgaatgcgggtggctggatgggcgccatgtgccttctgcacgcctcgctg
tccgagtatgtgctgctcttcggcaccgccttgggctcccgcggccactcggggcgctac
tgggctgagatctcggataccatcatctctggcaccttccaccagtggagagagggcacc
accaaaagtgaggtcttctacccaggggagacggtagtacacgggcctggtgaggcaaca
gctgtggagtgggggccaaacacatggatggtggagtacggccggggcgtcatcccatcc
accctggccttcgcgctggccgacactgtcttcagcacccaggacttcctcaccctcttc
tatactcttcgctcctatgctcggggcctccggcttgagctcaccacctacctctttggc
caggacccttga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Network (3)   
   KEGG NETWORK (3)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Drug (13)   
   KEGG DRUG (13)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   RefGene (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (9)   
   OC (1)   
Protein sequence (9)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (7)   
DNA sequence (49)   
   RefSeq(nuc) (11)   
   GenBank (19)   
   EMBL (19)   
3D Structure (5)   
   PDB (5)   
Protein domain (1)   
   Pfam (1)   
All databases (106)   

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