KEGG   Homo sapiens (human): 7494
Entry
7494              CDS       T01001                                 

Gene name
XBP1, TREB-5, TREB5, XBP-1, XBP2
Definition
(RefSeq) X-box binding protein 1
  KO
K09027  X box-binding protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04141  Protein processing in endoplasmic reticulum
hsa04932  Non-alcoholic fatty liver disease
hsa05010  Alzheimer disease
hsa05012  Parkinson disease
hsa05014  Amyotrophic lateral sclerosis
hsa05017  Spinocerebellar ataxia
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05417  Lipid and atherosclerosis
Network
nt06412  Unfolded protein response (UPR) signaling
nt06460  Alzheimer disease
nt06463  Parkinson disease
nt06464  Amyotrophic lateral sclerosis
  Element
N01011  IRE1a-XBP1 signaling pathway
N01012  Mutation-caused aberrant PSEN1 to IRE1a-XBP1 signaling pathway
N01015  ATF6-mediated transcription
N01016  Mutation-caused aberrant PSEN1 to ATF6-mediated transcription
N01034  Mutation-caused aberrant SNCA to IRE1a-XBP1 signaling pathway
N01148  Mutation-caused aberrant SOD1 to IRE1a-XBP1 signaling pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04141 Protein processing in endoplasmic reticulum
    7494 (XBP1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    7494 (XBP1)
   05012 Parkinson disease
    7494 (XBP1)
   05014 Amyotrophic lateral sclerosis
    7494 (XBP1)
   05017 Spinocerebellar ataxia
    7494 (XBP1)
   05022 Pathways of neurodegeneration - multiple diseases
    7494 (XBP1)
  09166 Cardiovascular disease
   05417 Lipid and atherosclerosis
    7494 (XBP1)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    7494 (XBP1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    7494 (XBP1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Basic leucine zipper (bZIP)
   AP-1(-like) components, Jun
    7494 (XBP1)
SSDB
Motif
Pfam: bZIP_2 bZIP_1 bZIP_Maf KASH_CCD YabA UPF0242 Fez1 NDUF_B6
Other DBs
NCBI-GeneID: 7494
NCBI-ProteinID: NP_005071
OMIM: 194355
HGNC: 12801
Ensembl: ENSG00000100219
Vega: OTTHUMG00000151094
Pharos: P17861(Tbio)
UniProt: P17861 A0A024R1F0
Position
22q12.1; 22q12
AA seq 261 aa
MVVVAAAPNPADGTPKVLLLSGQPASAAGAPAGQALPLMVPAQRGASPEAASGGLPQARK
RQRLTHLSPEEKALRRKLKNRVAAQTARDRKKARMSELEQQVVDLEEENQKLLLENQLLR
EKTHGLVVENQELRQRLGMDALVAEEEAEAKGNEVRPVAGSAESAALRLRAPLQQVQAQL
SPLQNISPWILAVLTLQIQSLISCWAFWTTWTQSCSSNALPQSLPAWRSSQRSTQKDPVP
YQPPFLCQWGRHQPSWKPLMN
NT seq 786 nt   +upstreamnt  +downstreamnt
atggtggtggtggcagccgcgccgaacccggccgacgggacccctaaagttctgcttctg
tcggggcagcccgcctccgccgccggagccccggccggccaggccctgccgctcatggtg
ccagcccagagaggggccagcccggaggcagcgagcggggggctgccccaggcgcgcaag
cgacagcgcctcacgcacctgagccccgaggagaaggcgctgaggaggaaactgaaaaac
agagtagcagctcagactgccagagatcgaaagaaggctcgaatgagtgagctggaacag
caagtggtagatttagaagaagagaaccaaaaacttttgctagaaaatcagcttttacga
gagaaaactcatggccttgtagttgagaaccaggagttaagacagcgcttggggatggat
gccctggttgctgaagaggaggcggaagccaaggggaatgaagtgaggccagtggccggg
tctgctgagtccgcagcactcagactacgtgcacctctgcagcaggtgcaggcccagttg
tcacccctccagaacatctccccatggattctggcggtattgactcttcagattcagagt
ctgatatcctgttgggcattctggacaacttggacccagtcatgttcttcaaatgccctt
ccccagagcctgccagcctggaggagctcccagaggtctacccagaaggacccagttcct
taccagcctccctttctctgtcagtggggacgtcatcagccaagctggaagccattaatg
aactaa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (8)   
   KEGG PATHWAY (8)   
Network (6)   
   KEGG NETWORK (6)   
Disease (2)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (28)   
   KEGG ORTHOLOGY (1)   
   RefGene (12)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (8)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (7)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (26)   
   RefSeq(nuc) (4)   
   GenBank (11)   
   EMBL (11)   
Protein domain (8)   
   Pfam (8)   
All databases (88)   

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