KEGG   Homo sapiens (human): 4799Help
Entry
4799              CDS       T01001                                 

Gene name
NFX1, NFX2, TEG-42, Tex42
Definition
(RefSeq) nuclear transcription factor, X-box binding 1
  KO
K12236  transcriptional repressor NF-X1
Organism
hsa  Homo sapiens (human)
Pathway
hsa05165  Human papillomavirus infection
Network
nt06116  NOTCH signaling (viruses)
nt06166  Human papillomavirus (HPV)
  Element
N00373  HPV E6 to NFX1-mediated transcription
N00382  HPV E6 to Notch signaling pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    4799 (NFX1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    4799 (NFX1)
   04121 Ubiquitin system [BR:hsa04121]
    4799 (NFX1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Zinc finger
   Cys4HisCys3 PHD fingers
    4799 (NFX1)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  Single Ring-finger type E3
   NFX1 proteins
    4799 (NFX1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: R3H zf-NF-X1 XPG_I
Motif
Other DBs
NCBI-GeneID: 4799
NCBI-ProteinID: NP_002495
OMIM: 603255
HGNC: 7803
Ensembl: ENSG00000086102
Vega: OTTHUMG00000019772
Pharos: Q12986(Tbio)
UniProt: Q12986
LinkDB All DBs
Position
9p13.3
AA seq 1120 aa AA seqDB search
MAEAPPVSGTFKFNTDAAEFIPQEKKNSGLNCGTQRRLDSNRIGRRNYSSPPPCHLSRQV
PYDEISAVHQHSYHPSGSKPKSQQTSFQSSPCNKSPKSHGLQNQPWQKLRNEKHHIRVKK
AQSLAEQTSDTAGLESSTRSESGTDLREHSPSESEKEVVGADPRGAKPKKATQFVYSYGR
GPKVKGKLKCEWSNRTTPKPEDAGPESTKPVGVFHPDSSEASSRKGVLDGYGARRNEQRR
YPQKRPPWEVEGARPRPGRNPPKQEGHRHTNAGHRNNMGPIPKDDLNERPAKSTCDSENL
AVINKSSRRVDQEKCTVRRQDPQVVSPFSRGKQNHVLKNVETHTGSLIEQLTTEKYECMV
CCELVRVTAPVWSCQSCYHVFHLNCIKKWARSPASQADGQSGWRCPACQNVSAHVPNTYT
CFCGKVKNPEWSRNEIPHSCGEVCRKKQPGQDCPHSCNLLCHPGPCPPCPAFMTKTCECG
RTRHTVRCGQAVSVHCSNPCENILNCGQHQCAELCHGGQCQPCQIILNQVCYCGSTSRDV
LCGTDVGKSDGFGDFSCLKICGKDLKCGNHTCSQVCHPQPCQQCPRLPQLVRCCPCGQTP
LSQLLELGSSSRKTCMDPVPSCGKVCGKPLPCGSLDFIHTCEKLCHEGDCGPCSRTSVIS
CRCSFRTKELPCTSLKSEDATFMCDKRCNKKRLCGRHKCNEICCVDKEHKCPLICGRKLR
CGLHRCEEPCHRGNCQTCWQASFDELTCHCGASVIYPPVPCGTRPPECTQTCARVHECDH
PVYHSCHSEEKCPPCTFLTQKWCMGKHEFRSNIPCHLVDISCGLPCSATLPCGMHKCQRL
CHKGECLVDEPCKQPCTTPRADCGHPCMAPCHTSSPCPVTACKAKVELQCECGRRKEMVI
CSEASSTYQRIAAISMASKITDMQLGGSVEISKLITKKEVHQARLECDEECSALERKKRL
AEAFHISEDSDPFNIRSSGSKFSDSLKEDARKDLKFVSDVEKEMETLVEAVNKGKNSKKS
HSFPPMNRDHRRIIHDLAQVYGLESVSYDSEPKRNVVVTAIRGKSVCPPTTLTGVLEREM
QARPPPPIPHHRHQSDKNPGSSNLQKITKEPIIDYFDVQD
NT seq 3363 nt NT seq  +upstreamnt  +downstreamnt
atggcggaggcgcctcctgtctcaggtacttttaaattcaatacagatgctgctgaattc
attcctcaggagaaaaaaaattctggtctaaattgtgggactcaaaggagactagactct
aataggattggtagaagaaattacagttcaccacctccctgtcacctttccaggcaggtc
ccttatgatgaaatctctgctgttcatcagcatagttatcatccgtcaggaagcaaacct
aagagtcagcagacgtctttccagtcctctccttgtaataaatcgcccaagagccatggc
cttcagaatcaaccttggcagaaattgaggaatgagaagcaccatatcagagtcaagaaa
gcacagagtcttgctgagcagacctcagatacagctggattagagagctcgaccagatca
gagagtgggacagacctcagagagcatagtccttctgagagtgagaaggaagttgtgggt
gcagatcccaggggagcaaaacccaaaaaagcaacacagtttgtatacagctatggtaga
ggaccaaaagtcaaggggaaactcaaatgtgaatggagtaaccgaacaactccaaaaccg
gaggatgctggacccgaaagtaccaaacctgtgggggttttccaccctgactcttcagag
gcatcctctagaaaaggagtattggatgggtatggagccagacgaaatgagcagagaaga
tacccacagaaaaggcctccctgggaagtggagggggccaggccacgaccaggcagaaat
ccaccaaaacaggagggccaccgacatacaaacgcaggacacagaaacaacatgggcccc
attccaaaggatgacctcaatgaaagaccagcaaaatctacctgtgacagtgagaacttg
gcagtcatcaacaagtcttccaggagggttgaccaagagaaatgcactgtacggaggcag
gatcctcaagtagtatctcctttctcccgaggcaaacagaaccatgtgctaaagaatgtg
gaaacgcacacaggttctctaattgaacaactaacaacagaaaaatacgagtgcatggtg
tgctgtgaattggttcgtgtcacggccccagtgtggagttgtcagagctgttaccatgtg
tttcatttgaactgcataaagaaatgggcaaggtctccagcatctcaagcagatggccag
agtggttggaggtgccctgcctgtcagaatgtttctgcacatgttcctaatacctacact
tgtttctgtggcaaggtaaagaatcctgagtggagcagaaatgaaattccacatagctgt
ggtgaggtttgtagaaagaaacagcctggccaggactgcccacattcctgtaaccttctc
tgccatccaggaccctgcccaccctgccctgcctttatgacaaaaacatgtgaatgtgga
cgaaccaggcacacagttcgctgtggtcaggctgtctcagtccactgttctaacccatgt
gagaatattttgaactgtggtcagcaccagtgtgctgagctgtgccatgggggtcagtgc
cagccttgccagatcattttgaaccaggtatgctattgcggcagcacctcccgagatgtg
ttatgtggaaccgatgtaggaaagtctgatggatttggggatttcagctgtttaaagata
tgtggcaaggacttgaaatgcggtaaccatacatgttcgcaagtgtgccaccctcagccc
tgccagcaatgcccacggctcccccagctggtgcgctgttgcccctgtggccaaactcct
ctcagccaattgctagaacttggaagtagtagtcggaaaacatgcatggaccctgtgcct
tcatgtggaaaagtgtgcggcaagcctctgccttgtggttccttagatttcattcatacc
tgtgaaaagctctgccatgaaggagactgtggaccatgctctcgcacatcagttatttcc
tgcagatgctctttcagaacaaaggagcttccatgtaccagtctcaaaagtgaagatgct
acatttatgtgtgacaagcggtgtaacaagaaacggttgtgtggacggcataaatgtaat
gagatatgctgtgtggataaggagcacaagtgtcctttgatttgtgggaggaaactccgt
tgtggccttcataggtgtgaagaaccttgtcatcgtggaaactgccagacatgctggcaa
gccagttttgatgaattaacctgccattgtggtgcatcagtgatttaccctccagttccc
tgtggtactaggccccctgaatgtacccaaacctgcgctagagtccatgagtgtgaccat
ccagtatatcattcttgtcatagtgaggagaagtgtcccccttgcactttcctaactcag
aagtggtgcatgggcaagcatgagtttcggagcaacatcccctgtcacctggttgatatc
tcttgcggattaccctgcagtgccacgctaccatgtgggatgcacaaatgtcagagactc
tgtcacaaaggggagtgtcttgtggatgagccctgcaagcagccctgcaccacccccaga
gctgactgtggtcacccgtgtatggcaccctgccataccagctcaccctgccctgtgact
gcttgtaaagctaaggtagagctacagtgtgaatgtggacgaagaaaagagatggtgatt
tgctctgaagcatctagtacttatcaaagaatagctgcaatctccatggcctctaagata
acagacatgcagcttggaggttcagtggagatcagcaagttaattaccaaaaaggaagtt
catcaagccaggctggagtgtgatgaggagtgttcagccttggaaaggaaaaagagatta
gcagaggcatttcatatcagtgaggattctgatcctttcaatatacgttcttcagggtca
aaattcagtgatagtttgaaagaagatgccaggaaggacttaaagtttgtcagtgacgtt
gagaaggaaatggaaaccctcgtggaggccgtgaataagggaaagaatagtaagaaaagc
cacagcttccctcccatgaacagagaccaccgccggatcatccatgacttggcccaagtt
tatggcctggagagcgtgagctatgacagtgaaccgaagcgcaatgtggtggtcactgcc
atcagggggaagtccgtttgtcctcctaccacgctgacaggtgtgcttgaaagggaaatg
caggcacggcctccaccaccgattcctcatcacagacatcagtcagacaagaatcctggg
agcagtaatttacagaaaataaccaaggagccaataattgactattttgacgtccaggac
taa

KEGG   Homo sapiens (human): 5663Help
Entry
5663              CDS       T01001                                 

Gene name
PSEN1, ACNINV3, AD3, FAD, PS-1, PS1, S182
Definition
(RefSeq) presenilin 1
  KO
K04505  presenilin 1 [EC:3.4.23.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04310  Wnt signaling pathway
hsa04330  Notch signaling pathway
hsa04722  Neurotrophin signaling pathway
hsa05010  Alzheimer disease
hsa05165  Human papillomavirus infection
Network
nt06116  NOTCH signaling (viruses)
nt06166  Human papillomavirus (HPV)
  Element
N00382  HPV E6 to Notch signaling pathway
Disease
H00056  Alzheimer disease
H00078  Frontotemporal lobar degeneration
H00294  Dilated cardiomyopathy
H00681  Acne inversa
Drug target
Avagacestat: D09869
Begacestat: D08869
Crenigacestat: D11151
Nirogacestat (DG03016): D10960 D11453
Semagacestat: D09377
Tarenflurbil: D09010
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04310 Wnt signaling pathway
    5663 (PSEN1)
   04330 Notch signaling pathway
    5663 (PSEN1)
 09150 Organismal Systems
  09156 Nervous system
   04722 Neurotrophin signaling pathway
    5663 (PSEN1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    5663 (PSEN1)
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    5663 (PSEN1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01002 Peptidases and inhibitors [BR:hsa01002]
    5663 (PSEN1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.4  Acting on peptide bonds (peptidases)
   3.4.23  Aspartic endopeptidases
    3.4.23.-  
     5663 (PSEN1)
Peptidases and inhibitors [BR:hsa01002]
 Aspartic peptidases
  Family A22: presenilin family
   5663 (PSEN1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Presenilin
Motif
Other DBs
NCBI-GeneID: 5663
NCBI-ProteinID: NP_000012
OMIM: 104311
HGNC: 9508
Ensembl: ENSG00000080815
Vega: OTTHUMG00000141279
Pharos: P49768(Tchem)
UniProt: P49768 A0A024R6A3
LinkDB All DBs
Structure
PDB: 

Position
14q24.2
AA seq 467 aa AA seqDB search
MTELPAPLSYFQNAQMSEDNHLSNTVRSQNDNRERQEHNDRRSLGHPEPLSNGRPQGNSR
QVVEQDEEEDEELTLKYGAKHVIMLFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTE
DTETVGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYKVIHAWLIISSLLLLFFFSFI
YLGEVFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQQAYLIMISALMALVFIKY
LPEWTAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNETLFPALIYSSTMVWLVNMAE
GDPEAQRRVSKNSKYNAESTERESQDTVAENDDGGFSEEWEAQRDSHLGPHRSTPESRAA
VQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATASGDWNTTIACFVAILIGLCL
TLLLLAIFKKALPALPISITFGLVFYFATDYLVQPFMDQLAFHQFYI
NT seq 1404 nt NT seq  +upstreamnt  +downstreamnt
atgacagagttacctgcaccgttgtcctacttccagaatgcacagatgtctgaggacaac
cacctgagcaatactgtacgtagccagaatgacaatagagaacggcaggagcacaacgac
agacggagccttggccaccctgagccattatctaatggacgaccccagggtaactcccgg
caggtggtggagcaagatgaggaagaagatgaggagctgacattgaaatatggcgccaag
catgtgatcatgctctttgtccctgtgactctctgcatggtggtggtcgtggctaccatt
aagtcagtcagcttttatacccggaaggatgggcagctaatctataccccattcacagaa
gataccgagactgtgggccagagagccctgcactcaattctgaatgctgccatcatgatc
agtgtcattgttgtcatgactatcctcctggtggttctgtataaatacaggtgctataag
gtcatccatgcctggcttattatatcatctctattgttgctgttctttttttcattcatt
tacttgggggaagtgtttaaaacctataacgttgctgtggactacattactgttgcactc
ctgatctggaattttggtgtggtgggaatgatttccattcactggaaaggtccacttcga
ctccagcaggcatatctcattatgattagtgccctcatggccctggtgtttatcaagtac
ctccctgaatggactgcgtggctcatcttggctgtgatttcagtatatgatttagtggct
gttttgtgtccgaaaggtccacttcgtatgctggttgaaacagctcaggagagaaatgaa
acgctttttccagctctcatttactcctcaacaatggtgtggttggtgaatatggcagaa
ggagacccggaagctcaaaggagagtatccaaaaattccaagtataatgcagaaagcaca
gaaagggagtcacaagacactgttgcagagaatgatgatggcgggttcagtgaggaatgg
gaagcccagagggacagtcatctagggcctcatcgctctacacctgagtcacgagctgct
gtccaggaactttccagcagtatcctcgctggtgaagacccagaggaaaggggagtaaaa
cttggattgggagatttcattttctacagtgttctggttggtaaagcctcagcaacagcc
agtggagactggaacacaaccatagcctgtttcgtagccatattaattggtttgtgcctt
acattattactccttgccattttcaagaaagcattgccagctcttccaatctccatcacc
tttgggcttgttttctactttgccacagattatcttgtacagccttttatggaccaatta
gcattccatcaattttatatctag

DBGET integrated database retrieval system