KEGG   Homo sapiens (human): 1536
Entry
1536              CDS       T01001                                 

Gene name
CYBB, AMCBX2, CGD, GP91-1, GP91-PHOX, GP91PHOX, IMD34, NOX2, p91-PHOX
Definition
(RefSeq) cytochrome b-245 beta chain
  KO
K21421  NADPH oxidase 2 [EC:1.-.-.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04066  HIF-1 signaling pathway
hsa04145  Phagosome
hsa04216  Ferroptosis
hsa04217  Necroptosis
hsa04621  NOD-like receptor signaling pathway
hsa04670  Leukocyte transendothelial migration
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa05010  Alzheimer disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05140  Leishmaniasis
hsa05171  Coronavirus disease - COVID-19
Network
nt06171  Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)
nt06415  PI3K signaling
nt06465  Prion disease
  Element
N01204  PRNP-PI3K-NOX2 signaling pathway
N01205  Scrapie conformation PrPSc to PRNP-PI3K-NOX2 signaling pathway
N01306  AngII-AT1R-NOX2 signaling pathway
Disease
H00089  IFN-gamma/IL-12 axis
H00098  Chronic granulomatous disease
H01167  Granulibacter infection
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04066 HIF-1 signaling pathway
    1536 (CYBB)
 09140 Cellular Processes
  09141 Transport and catabolism
   04145 Phagosome
    1536 (CYBB)
  09143 Cell growth and death
   04216 Ferroptosis
    1536 (CYBB)
   04217 Necroptosis
    1536 (CYBB)
 09150 Organismal Systems
  09151 Immune system
   04621 NOD-like receptor signaling pathway
    1536 (CYBB)
   04670 Leukocyte transendothelial migration
    1536 (CYBB)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    1536 (CYBB)
   05020 Prion disease
    1536 (CYBB)
   05022 Pathways of neurodegeneration - multiple diseases
    1536 (CYBB)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    1536 (CYBB)
  09172 Infectious disease: viral
   05171 Coronavirus disease - COVID-19
    1536 (CYBB)
  09174 Infectious disease: parasitic
   05140 Leishmaniasis
    1536 (CYBB)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    1536 (CYBB)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.-  
   1.-.-  
    1.-.-.-  
     1536 (CYBB)
Membrane trafficking [BR:hsa04131]
 Others
  NADPH oxidases (Nox) and associated proteins
   NADPH oxidases
    1536 (CYBB)
SSDB
Motif
Pfam: NAD_binding_6 Ferric_reduct FAD_binding_8 FAD_binding_6 NAD_binding_1
Other DBs
NCBI-GeneID: 1536
NCBI-ProteinID: NP_000388
OMIM: 300481
HGNC: 2578
Ensembl: ENSG00000165168
Vega: OTTHUMG00000033175
Pharos: P04839(Tchem)
UniProt: P04839 A0A0S2Z3S6
LinkDB
Structure
PDB: 
3A1F

Position
Xp21.1-p11.4
AA seq 570 aa
MGNWAVNEGLSIFVILVWLGLNVFLFVWYYRVYDIPPKFFYTRKLLGSALALARAPAACL
NFNCMLILLPVCRNLLSFLRGSSACCSTRVRRQLDRNLTFHKMVAWMIALHSAIHTIAHL
FNVEWCVNARVNNSDPYSVALSELGDRQNESYLNFARKRIKNPEGGLYLAVTLLAGITGV
VITLCLILIITSSTKTIRRSYFEVFWYTHHLFVIFFIGLAIHGAERIVRGQTAESLAVHN
ITVCEQKISEWGKIKECPIPQFAGNPPMTWKWIVGPMFLYLCERLVRFWRSQQKVVITKV
VTHPFKTIELQMKKKGFKMEVGQYIFVKCPKVSKLEWHPFTLTSAPEEDFFSIHIRIVGD
WTEGLFNACGCDKQEFQDAWKLPKIAVDGPFGTASEDVFSYEVVMLVGAGIGVTPFASIL
KSVWYKYCNNATNLKLKKIYFYWLCRDTHAFEWFADLLQLLESQMQERNNAGFLSYNIYL
TGWDESQANHFAVHHDEEKDVITGLKQKTLYGRPNWDNEFKTIASQHPNTRIGVFLCGPE
ALAETLSKQSISNSESGPRGVHFIFNKENF
NT seq 1713 nt   +upstreamnt  +downstreamnt
atggggaactgggctgtgaatgaggggctctccatttttgtcattctggtttggctgggg
ttgaacgtcttcctctttgtctggtattaccgggtttatgatattccacctaagttcttt
tacacaagaaaacttcttgggtcagcactggcactggccagggcccctgcagcctgcctg
aatttcaactgcatgctgattctcttgccagtctgtcgaaatctgctgtccttcctcagg
ggttccagtgcgtgctgctcaacaagagttcgaagacaactggacaggaatctcaccttt
cataaaatggtggcatggatgattgcacttcactctgcgattcacaccattgcacatcta
tttaatgtggaatggtgtgtgaatgcccgagtcaataattctgatccttattcagtagca
ctctctgaacttggagacaggcaaaatgaaagttatctcaattttgctcgaaagagaata
aagaaccctgaaggaggcctgtacctggctgtgaccctgttggcaggcatcactggagtt
gtcatcacgctgtgcctcatattaattatcacttcctccaccaaaaccatccggaggtct
tactttgaagtcttttggtacacacatcatctctttgtgatcttcttcattggccttgcc
atccatggagctgaacgaattgtacgtgggcagaccgcagagagtttggctgtgcataat
ataacagtttgtgaacaaaaaatctcagaatggggaaaaataaaggaatgcccaatccct
cagtttgctggaaaccctcctatgacttggaaatggatagtgggtcccatgtttctgtat
ctctgtgagaggttggtgcggttttggcgatctcaacagaaggtggtcatcaccaaggtg
gtcactcaccctttcaaaaccatcgagctacagatgaagaagaaggggttcaaaatggaa
gtgggacaatacatttttgtcaagtgcccaaaggtgtccaagctggagtggcaccctttt
acactgacatccgcccctgaggaagacttctttagtatccatatccgcatcgttggggac
tggacagaggggctgttcaatgcttgtggctgtgataagcaggagtttcaagatgcgtgg
aaactacctaagatagcggttgatgggccctttggcactgccagtgaagatgtgttcagc
tatgaggtggtgatgttagtgggagcagggattggggtcacacccttcgcatccattctc
aagtcagtctggtacaaatattgcaataacgccaccaatctgaagctcaaaaagatctac
ttctactggctgtgccgggacacacatgcctttgagtggtttgcagatctgctgcaactg
ctggagagccagatgcaggaaaggaacaatgccggcttcctcagctacaacatctacctc
actggctgggatgagtctcaggccaatcactttgctgtgcaccatgatgaggagaaagat
gtgatcacaggcctgaaacaaaagactttgtatggacggcccaactgggataatgaattc
aagacaattgcaagtcaacaccctaataccagaataggagttttcctctgtggacctgaa
gccttggctgaaaccctgagtaaacaaagcatctccaactctgagtctggccctcgggga
gtgcatttcattttcaacaaggaaaacttctaa

KEGG   Homo sapiens (human): 1535
Entry
1535              CDS       T01001                                 

Gene name
CYBA, CGD4, p22-PHOX
Definition
(RefSeq) cytochrome b-245 alpha chain
  KO
K08009  cytochrome b-245, alpha polypeptide
Organism
hsa  Homo sapiens (human)
Pathway
hsa04145  Phagosome
hsa04380  Osteoclast differentiation
hsa04621  NOD-like receptor signaling pathway
hsa04670  Leukocyte transendothelial migration
hsa05020  Prion disease
hsa05140  Leishmaniasis
hsa05418  Fluid shear stress and atherosclerosis
Network
nt06415  PI3K signaling
nt06465  Prion disease
  Element
N01204  PRNP-PI3K-NOX2 signaling pathway
N01205  Scrapie conformation PrPSc to PRNP-PI3K-NOX2 signaling pathway
Disease
H00098  Chronic granulomatous disease
H01167  Granulibacter infection
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04145 Phagosome
    1535 (CYBA)
 09150 Organismal Systems
  09151 Immune system
   04621 NOD-like receptor signaling pathway
    1535 (CYBA)
   04670 Leukocyte transendothelial migration
    1535 (CYBA)
  09158 Development and regeneration
   04380 Osteoclast differentiation
    1535 (CYBA)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05020 Prion disease
    1535 (CYBA)
  09166 Cardiovascular disease
   05418 Fluid shear stress and atherosclerosis
    1535 (CYBA)
  09174 Infectious disease: parasitic
   05140 Leishmaniasis
    1535 (CYBA)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    1535 (CYBA)
Membrane trafficking [BR:hsa04131]
 Others
  NADPH oxidases (Nox) and associated proteins
   Nox associated proteins
    1535 (CYBA)
SSDB
Motif
Pfam: Cytochrom_B558a Cg6151-P DUF308
Other DBs
NCBI-GeneID: 1535
NCBI-ProteinID: NP_000092
OMIM: 608508
HGNC: 2577
Ensembl: ENSG00000051523
Vega: OTTHUMG00000173320
Pharos: P13498(Tbio)
UniProt: P13498 B4DT46
LinkDB
Structure
PDB: 
1WLP

Position
16q24.2
AA seq 195 aa
MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRK
KGSTMERWGQKYMTAVVKLFGPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGI
YLLAAVRGEQWTPIEPKPRERPQIGGTIKQPPSNPPPRPPAEARKKPSEEEAAVAAGGPP
GGPQVNPIPVTDEVV
NT seq 588 nt   +upstreamnt  +downstreamnt
atggggcagatcgagtgggccatgtgggccaacgaacaggcgctggcgtccggcctgatc
ctcatcaccgggggcatcgtggccacagctgggcgcttcacccagtggtactttggtgcc
tactccattgtggcgggcgtgtttgtgtgcctgctggagtacccccgggggaagaggaag
aagggctccaccatggagcgctggggacagaagtacatgaccgccgtggtgaagctgttc
gggccctttaccaggaattactatgttcgggccgtcctgcatctcctgctctcggtgccc
gccggcttcctgctggccaccatccttgggaccgcctgcctggccattgcgagcggcatc
tacctactggcggctgtgcgtggcgagcagtggacgcccatcgagcccaagccccgggag
cggccgcagatcggaggcaccatcaagcagccgcccagcaaccccccgccgcggcccccg
gccgaggcccgcaagaagcccagcgaggaggaggctgcggtggcggcggggggacccccg
ggaggtccccaggtcaaccccatcccggtgaccgacgaggtcgtgtga

KEGG   Homo sapiens (human): 4689
Entry
4689              CDS       T01001                                 

Gene name
NCF4, CGD3, NCF, P40PHOX, SH3PXD4
Definition
(RefSeq) neutrophil cytosolic factor 4
  KO
K08012  neutrophil cytosolic factor 4
Organism
hsa  Homo sapiens (human)
Pathway
hsa04145  Phagosome
hsa04380  Osteoclast differentiation
hsa04670  Leukocyte transendothelial migration
hsa05020  Prion disease
hsa05140  Leishmaniasis
Network
nt06415  PI3K signaling
nt06465  Prion disease
  Element
N01204  PRNP-PI3K-NOX2 signaling pathway
N01205  Scrapie conformation PrPSc to PRNP-PI3K-NOX2 signaling pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04145 Phagosome
    4689 (NCF4)
 09150 Organismal Systems
  09151 Immune system
   04670 Leukocyte transendothelial migration
    4689 (NCF4)
  09158 Development and regeneration
   04380 Osteoclast differentiation
    4689 (NCF4)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05020 Prion disease
    4689 (NCF4)
  09174 Infectious disease: parasitic
   05140 Leishmaniasis
    4689 (NCF4)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    4689 (NCF4)
Membrane trafficking [BR:hsa04131]
 Others
  NADPH oxidases (Nox) and associated proteins
   Nox associated proteins
    4689 (NCF4)
SSDB
Motif
Pfam: PX PB1 SH3_1 SH3_2 SH3_9
Other DBs
NCBI-GeneID: 4689
NCBI-ProteinID: NP_000622
OMIM: 601488
HGNC: 7662
Ensembl: ENSG00000100365
Vega: OTTHUMG00000150548
Pharos: Q15080(Tbio)
UniProt: Q15080
LinkDB
Structure
PDB: 

Position
22q12.3
AA seq 339 aa
MAVAQQLRAESDFEQLPDDVAISANIADIEEKRGFTSHFVFVIEVKTKGGSKYLIYRRYR
QFHALQSKLEERFGPDSKSSALACTLPTLPAKVYVGVKQEIAEMRIPALNAYMKSLLSLP
VWVLMDEDVRIFFYQSPYDSEQVPQALRRLRPRTRKVKSVSPQGNSVDRMAAPRAEALFD
FTGNSKLELNFKAGDVIFLLSRINKDWLEGTVRGATGIFPLSFVKILKDFPEEDDPTNWL
RCYYYEDTISTIKDIAVEEDLSSTPLLKDLLELTRREFQREDIALNYRDAEGDLVRLLSD
EDVALMVRQARGLPSQKRLFPWKLHITQKDNYRVYNTMP
NT seq 1020 nt   +upstreamnt  +downstreamnt
atggctgtggcccagcagctgcgggccgagagtgactttgaacagcttccggatgatgtt
gccatctcggccaacattgctgacatcgaggagaagagaggcttcaccagccactttgtt
ttcgtcatcgaggtgaagacaaaaggaggatccaagtacctcatctaccgccgctaccgc
cagttccatgctttgcagagcaagctggaggagcgcttcgggccagacagcaagagcagt
gccctggcctgtaccctgcccacactcccagccaaagtctacgtgggtgtgaaacaggag
atcgccgagatgcggatacctgccctcaacgcctacatgaagagcctgctcagcctgccg
gtctgggtgctgatggatgaggacgtccggatcttcttttaccagtcgccctatgactca
gagcaggtgccccaggcactccgccggctccgcccgcgcacccggaaagtcaagagcgtg
tccccacagggcaacagcgttgaccgcatggcagctccgagagcagaggctctatttgac
ttcactggaaacagcaaactggagctgaatttcaaagctggagatgtgatcttcctcctc
agtcggatcaacaaagactggctggagggcactgtccggggagccacgggcatcttccct
ctctccttcgtgaagatcctcaaagacttccctgaggaggacgaccccaccaactggctg
cgttgctactactacgaagacaccatcagcaccatcaaggacatcgcggtggaggaagat
ctcagcagcactcccctattgaaagacctgctggagctcacaaggcgggagttccagaga
gaggacatagctctgaattaccgggacgctgagggggatctggttcggctgctgtcggat
gaggacgtagcgctcatggtgcggcaggctcgtggcctcccctcccagaagcgcctcttc
ccctggaagctgcacatcacgcagaaggacaactacagggtctacaacacgatgccatga

KEGG   Homo sapiens (human): 653361
Entry
653361            CDS       T01001                                 

Gene name
NCF1, CGD1, NCF1A, NOXO2, SH3PXD1A, p47phox
Definition
(RefSeq) neutrophil cytosolic factor 1
  KO
K08011  neutrophil cytosolic factor 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04062  Chemokine signaling pathway
hsa04145  Phagosome
hsa04380  Osteoclast differentiation
hsa04666  Fc gamma R-mediated phagocytosis
hsa04670  Leukocyte transendothelial migration
hsa05020  Prion disease
hsa05140  Leishmaniasis
hsa05418  Fluid shear stress and atherosclerosis
Network
nt06415  PI3K signaling
nt06465  Prion disease
  Element
N01204  PRNP-PI3K-NOX2 signaling pathway
N01205  Scrapie conformation PrPSc to PRNP-PI3K-NOX2 signaling pathway
Disease
H00098  Chronic granulomatous disease
H01167  Granulibacter infection
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04145 Phagosome
    653361 (NCF1)
 09150 Organismal Systems
  09151 Immune system
   04666 Fc gamma R-mediated phagocytosis
    653361 (NCF1)
   04670 Leukocyte transendothelial migration
    653361 (NCF1)
   04062 Chemokine signaling pathway
    653361 (NCF1)
  09158 Development and regeneration
   04380 Osteoclast differentiation
    653361 (NCF1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05020 Prion disease
    653361 (NCF1)
  09166 Cardiovascular disease
   05418 Fluid shear stress and atherosclerosis
    653361 (NCF1)
  09174 Infectious disease: parasitic
   05140 Leishmaniasis
    653361 (NCF1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    653361 (NCF1)
Membrane trafficking [BR:hsa04131]
 Others
  NADPH oxidases (Nox) and associated proteins
   Nox associated proteins
    653361 (NCF1)
SSDB
Motif
Pfam: SH3_1 NECFESHC SH3_9 p47_phox_C PX SH3_2 hSH3 SH3_6
Other DBs
NCBI-GeneID: 653361
NCBI-ProteinID: NP_000256
OMIM: 608512
HGNC: 7660
Ensembl: ENSG00000158517
Vega: OTTHUMG00000149965
Pharos: P14598(Tbio)
UniProt: P14598
LinkDB
Structure
PDB: 

Position
7q11.23
AA seq 390 aa
MGDTFIRHIALLGFEKRFVPSQHYVYMFLVKWQDLSEKVVYRRFTEIYEFHKTLKEMFPI
EAGAINPENRIIPHLPAPKWFDGQRAAENRQGTLTEYCSTLMSLPTKISRCPHLLDFFKV
RPDDLKLPTDNQTKKPETYLMPKDGKSTATDITGPIILQTYRAIANYEKTSGSEMALSTG
DVVEVVEKSESGWWFCQMKAKRGWIPASFLEPLDSPDETEDPEPNYAGEPYVAIKAYTAV
EGDEVSLLEGEAVEVIHKLLDGWWVIRKDDVTGYFPSMYLQKSGQDVSQAQRQIKRGAPP
RRSSIRNAHSIHQRSRKRLSQDAYRRNSVRFLQQRRRQARPGPQSPGSPLEEERQTQRSK
PQPAVPPRPSADLILNRCSESTKRKLASAV
NT seq 1173 nt   +upstreamnt  +downstreamnt
atgggggacaccttcatccgtcacatcgccctgctgggctttgagaagcgcttcgtaccc
agccagcactatgtgtacatgttcctggtgaaatggcaggacctgtcggagaaggtggtc
taccggcgcttcaccgagatctacgagttccataaaaccttaaaagaaatgttccctatt
gaggcaggggcgatcaatccagagaacaggatcatcccccacctcccagctcccaagtgg
tttgacgggcagcgggccgccgagaaccgccagggcacacttaccgagtactgcagcacg
ctcatgagcctgcccaccaagatctcccgctgtccccacctcctcgacttcttcaaggtg
cgccctgatgacctcaagctccccacggacaaccagacaaaaaagccagagacatacttg
atgcccaaagatggcaagagtaccgcgacagacatcaccggccccatcatcctgcagacg
taccgcgccattgccaactacgagaagacctcgggctccgagatggctctgtccacgggg
gacgtggtggaggtcgtagagaagagcgagagcggttggtggttctgtcagatgaaagca
aagcgaggctggatcccagcgtccttcctcgagcccctggacagtcctgacgagacggaa
gaccctgagcccaactatgcaggtgagccatacgtcgccatcaaggcctacactgctgtg
gagggggacgaggtgtccctgctcgagggtgaagctgttgaggtcattcacaagctcctg
gacggctggtgggtcatcaggaaagacgacgtcacaggctacttcccgtccatgtacctg
caaaagtcagggcaagacgtgtcccaggcccaacgccagatcaagcggggggcgccgccc
cgcaggtcgtccatccgcaacgcgcacagcatccaccagcggtcgcggaagcgcctcagc
caggacgcctatcgccgcaacagcgtccgttttctgcagcagcgacgccgccaggcgcgg
ccgggaccgcagagccccgggagcccgctcgaggaggagcggcagacgcagcgctctaaa
ccgcagccggcggtgcccccgcggccgagcgccgacctcatcctgaaccgctgcagcgag
agcaccaagcggaagctggcgtctgccgtctga

KEGG   Homo sapiens (human): 4688
Entry
4688              CDS       T01001                                 

Gene name
NCF2, NCF-2, NOXA2, P67-PHOX, P67PHOX
Definition
(RefSeq) neutrophil cytosolic factor 2
  KO
K08010  neutrophil cytosolic factor 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04145  Phagosome
hsa04380  Osteoclast differentiation
hsa04670  Leukocyte transendothelial migration
hsa05020  Prion disease
hsa05140  Leishmaniasis
hsa05418  Fluid shear stress and atherosclerosis
Network
nt06415  PI3K signaling
nt06465  Prion disease
  Element
N01204  PRNP-PI3K-NOX2 signaling pathway
N01205  Scrapie conformation PrPSc to PRNP-PI3K-NOX2 signaling pathway
Disease
H00098  Chronic granulomatous disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04145 Phagosome
    4688 (NCF2)
 09150 Organismal Systems
  09151 Immune system
   04670 Leukocyte transendothelial migration
    4688 (NCF2)
  09158 Development and regeneration
   04380 Osteoclast differentiation
    4688 (NCF2)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05020 Prion disease
    4688 (NCF2)
  09166 Cardiovascular disease
   05418 Fluid shear stress and atherosclerosis
    4688 (NCF2)
  09174 Infectious disease: parasitic
   05140 Leishmaniasis
    4688 (NCF2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    4688 (NCF2)
Membrane trafficking [BR:hsa04131]
 Others
  NADPH oxidases (Nox) and associated proteins
   Nox associated proteins
    4688 (NCF2)
SSDB
Motif
Pfam: SH3_1 SH3_9 SH3_2 TPR_2 TPR_1 PB1 TPR_8 TPR_12 TPR_16 TPR_17 TPR_9 TPR_11
Other DBs
NCBI-GeneID: 4688
NCBI-ProteinID: NP_000424
OMIM: 608515
HGNC: 7661
Ensembl: ENSG00000116701
Vega: OTTHUMG00000035329
Pharos: P19878(Tbio)
UniProt: P19878 A0A0S2Z457
LinkDB
Structure
PDB: 

Position
1q25.3
AA seq 526 aa
MSLVEAISLWNEGVLAADKKDWKGALDAFSAVQDPHSRICFNIGCMYTILKNMTEAEKAF
TRSINRDKHLAVAYFQRGMLYYQTEKYDLAIKDLKEALIQLRGNQLIDYKILGLQFKLFA
CEVLYNIAFMYAKKEEWKKAEEQLALATSMKSEPRHSKIDKAMECVWKQKLYEPVVIPVG
KLFRPNERQVAQLAKKDYLGKATVVASVVDQDSFSGFAPLQPQAAEPPPRPKTPEIFRAL
EGEAHRVLFGFVPETKEELQVMPGNIVFVLKKGNDNWATVMFNGQKGLVPCNYLEPVELR
IHPQQQPQEESSPQSDIPAPPSSKAPGRPQLSPGQKQKEEPKEVKLSVPMPYTLKVHYKY
TVVMKTQPGLPYSQVRDMVSKKLELRLEHTKLSYRPRDSNELVPLSEDSMKDAWGQVKNY
CLTLWCENTVGDQGFPDEPKESEKADANNQTTEPQLKKGSQVEALFSYEATQPEDLEFQE
GDIILVLSKVNEEWLEGECKGKVGIFPKVFVEDCATTDLESTRREV
NT seq 1581 nt   +upstreamnt  +downstreamnt
atgtccctggtggaggccatcagcctctggaatgaaggggtgctggcagcggacaagaag
gactggaagggagccctggatgccttcagtgccgtccaggacccccactcccggatttgc
ttcaacattggctgcatgtacactatcctgaagaacatgactgaagcagagaaggccttt
accagaagcattaaccgagacaagcacttggcagtggcttacttccaacgagggatgctc
tactaccagacagagaaatatgatttggctatcaaagaccttaaagaagccttgattcag
cttcgagggaaccagctgatagactataagatcctggggctccagttcaagctgtttgcc
tgtgaggtgttatataacattgctttcatgtatgccaagaaggaggaatggaaaaaagct
gaagaacagttagcattggccacgagcatgaagtctgagcccagacattccaaaatcgac
aaggcgatggagtgtgtctggaagcagaagctatatgagccagtggtgatccctgtgggc
aagctgtttcgaccaaatgagagacaagtggctcagctggccaagaaggattacctaggc
aaggcgacggtcgtggcatctgtggtggatcaagacagtttctctgggtttgcccctctg
caaccacaggcagctgagcctccacccagaccgaaaaccccagagatcttcagggctctg
gaaggggaggctcaccgtgtgctatttgggtttgtgcctgagacaaaagaagagctccag
gtcatgccagggaacattgtctttgtcttgaagaagggcaatgataactgggccacggtc
atgttcaacgggcagaaggggcttgttccctgcaactaccttgaaccagttgagctgcgg
atccaccctcagcagcagccccaggaggaaagctctccgcagtccgacatcccagctcct
cctagttccaaagcccctggaagaccccagctgtcaccaggccagaaacaaaaagaagag
cctaaggaagtgaagctcagtgttcccatgccctacacactcaaggtgcactacaagtac
acggtagtcatgaagactcagcccgggctcccctacagccaggtccgggacatggtgtct
aagaaactggagctccggctggaacacactaagctgagctatcggcctcgggacagcaat
gagctggtgcccctttcagaagacagcatgaaggatgcctggggccaggtgaaaaactac
tgcctgactctgtggtgtgagaacacagtgggtgaccaaggctttccagatgaacccaag
gaaagtgaaaaagctgatgctaataaccagacaacagaacctcagcttaagaaaggcagc
caagtggaggcactcttcagttatgaggctacccaaccagaggacctggagtttcaggaa
ggggatataatcctggtgttatcaaaggtgaatgaagaatggctggaaggggagtgcaaa
gggaaggtgggcattttccccaaagtttttgttgaagactgcgcaactacagatttggaa
agcactcggagagaagtctag

KEGG   Homo sapiens (human): 5879
Entry
5879              CDS       T01001                                 

Gene name
RAC1, MIG5, MRD48, Rac-1, TC-25, p21-Rac1
Definition
(RefSeq) Rac family small GTPase 1
  KO
K04392  Ras-related C3 botulinum toxin substrate 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04014  Ras signaling pathway
hsa04015  Rap1 signaling pathway
hsa04024  cAMP signaling pathway
hsa04062  Chemokine signaling pathway
hsa04071  Sphingolipid signaling pathway
hsa04145  Phagosome
hsa04151  PI3K-Akt signaling pathway
hsa04310  Wnt signaling pathway
hsa04360  Axon guidance
hsa04370  VEGF signaling pathway
hsa04380  Osteoclast differentiation
hsa04510  Focal adhesion
hsa04520  Adherens junction
hsa04530  Tight junction
hsa04620  Toll-like receptor signaling pathway
hsa04650  Natural killer cell mediated cytotoxicity
hsa04662  B cell receptor signaling pathway
hsa04664  Fc epsilon RI signaling pathway
hsa04666  Fc gamma R-mediated phagocytosis
hsa04670  Leukocyte transendothelial migration
hsa04722  Neurotrophin signaling pathway
hsa04810  Regulation of actin cytoskeleton
hsa04932  Non-alcoholic fatty liver disease
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04972  Pancreatic secretion
hsa05014  Amyotrophic lateral sclerosis
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05100  Bacterial invasion of epithelial cells
hsa05120  Epithelial cell signaling in Helicobacter pylori infection
hsa05130  Pathogenic Escherichia coli infection
hsa05131  Shigellosis
hsa05132  Salmonella infection
hsa05135  Yersinia infection
hsa05163  Human cytomegalovirus infection
hsa05167  Kaposi sarcoma-associated herpesvirus infection
hsa05169  Epstein-Barr virus infection
hsa05170  Human immunodeficiency virus 1 infection
hsa05200  Pathways in cancer
hsa05203  Viral carcinogenesis
hsa05205  Proteoglycans in cancer
hsa05210  Colorectal cancer
hsa05211  Renal cell carcinoma
hsa05212  Pancreatic cancer
hsa05231  Choline metabolism in cancer
hsa05416  Viral myocarditis
hsa05418  Fluid shear stress and atherosclerosis
Network
nt06110  MAPK signaling (viruses and bacteria)
nt06124  Chemokine signaling (viruses)
nt06135  Cytoskeletal regulation (viruses and bacteria)
nt06139  NLR signaling (viruses and bacteria)
nt06150  Cytokine-cytokine receptor interaction (viruses)
nt06161  Human immunodeficiency virus type 1 (HIV-1)
nt06164  Kaposi sarcoma-associated herpesvirus (KSHV)
nt06167  Human cytomegalovirus (HCMV)
nt06224  CXCR signaling
nt06415  PI3K signaling
nt06465  Prion disease
  Element
N00153  CCR/CXCR-GNB/G-PI3K-RAC signaling pathway
N00178  KSHV vGPCR to GNB/G-PI3K-JNK signaling pathway
N00394  HCMV gH to ITGA/B-RhoA signaling pathway
N00433  CXCR4-GNB/G-RAC signaling pathway
N00434  HIV gp120 to CXCR4-GNB/G-RAC signaling pathway
N00951  ITGA/B-RHOG-RAC signaling pathway
N00952  Shigella IpgB1 to ITGA/B-RHOG-RAC signaling pathway
N01068  ITGA/B-FAK-RAC signaling pathway
N01069  Shigella IpgB1 to ITGA/B-FAK-RAC signaling pathway
N01077  Shigella IcsB to ITGA/B-FAK-RAC signaling pathway
N01086  Escherichia EspT to RAC signaling pathway
N01087  Escherichia EspW to RAC signaling pathway
N01090  IGG-FCGR-RAC signaling pathway
N01102  Yersinia YopE to ITGA/B-RHOG-RAC signaling pathway
N01103  Yersinia YpkA to IGG-FCGR-RAC signaling pathway
N01119  RAC/CDC42-PAK-ERK signaling pathway
N01120  Salmonella SptP to RAC/CDC42-PAK-ERK signaling pathway
N01127  Salmonella SopE to Inflammasome signaling pathway
N01128  Salmonella SopE to RAC signaling pathway
N01204  PRNP-PI3K-NOX2 signaling pathway
N01205  Scrapie conformation PrPSc to PRNP-PI3K-NOX2 signaling pathway
Disease
H00773  Autosomal dominant mental retardation
Drug target
Plitidepsin: D11032
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    5879 (RAC1)
   04014 Ras signaling pathway
    5879 (RAC1)
   04015 Rap1 signaling pathway
    5879 (RAC1)
   04310 Wnt signaling pathway
    5879 (RAC1)
   04370 VEGF signaling pathway
    5879 (RAC1)
   04071 Sphingolipid signaling pathway
    5879 (RAC1)
   04024 cAMP signaling pathway
    5879 (RAC1)
   04151 PI3K-Akt signaling pathway
    5879 (RAC1)
 09140 Cellular Processes
  09141 Transport and catabolism
   04145 Phagosome
    5879 (RAC1)
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    5879 (RAC1)
   04520 Adherens junction
    5879 (RAC1)
   04530 Tight junction
    5879 (RAC1)
  09142 Cell motility
   04810 Regulation of actin cytoskeleton
    5879 (RAC1)
 09150 Organismal Systems
  09151 Immune system
   04620 Toll-like receptor signaling pathway
    5879 (RAC1)
   04650 Natural killer cell mediated cytotoxicity
    5879 (RAC1)
   04662 B cell receptor signaling pathway
    5879 (RAC1)
   04664 Fc epsilon RI signaling pathway
    5879 (RAC1)
   04666 Fc gamma R-mediated phagocytosis
    5879 (RAC1)
   04670 Leukocyte transendothelial migration
    5879 (RAC1)
   04062 Chemokine signaling pathway
    5879 (RAC1)
  09154 Digestive system
   04972 Pancreatic secretion
    5879 (RAC1)
  09156 Nervous system
   04722 Neurotrophin signaling pathway
    5879 (RAC1)
  09158 Development and regeneration
   04360 Axon guidance
    5879 (RAC1)
   04380 Osteoclast differentiation
    5879 (RAC1)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    5879 (RAC1)
   05205 Proteoglycans in cancer
    5879 (RAC1)
   05203 Viral carcinogenesis
    5879 (RAC1)
   05231 Choline metabolism in cancer
    5879 (RAC1)
  09162 Cancer: specific types
   05210 Colorectal cancer
    5879 (RAC1)
   05212 Pancreatic cancer
    5879 (RAC1)
   05211 Renal cell carcinoma
    5879 (RAC1)
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    5879 (RAC1)
   05020 Prion disease
    5879 (RAC1)
   05022 Pathways of neurodegeneration - multiple diseases
    5879 (RAC1)
  09166 Cardiovascular disease
   05418 Fluid shear stress and atherosclerosis
    5879 (RAC1)
   05416 Viral myocarditis
    5879 (RAC1)
  09167 Endocrine and metabolic disease
   04932 Non-alcoholic fatty liver disease
    5879 (RAC1)
   04933 AGE-RAGE signaling pathway in diabetic complications
    5879 (RAC1)
  09171 Infectious disease: bacterial
   05120 Epithelial cell signaling in Helicobacter pylori infection
    5879 (RAC1)
   05130 Pathogenic Escherichia coli infection
    5879 (RAC1)
   05132 Salmonella infection
    5879 (RAC1)
   05131 Shigellosis
    5879 (RAC1)
   05135 Yersinia infection
    5879 (RAC1)
   05100 Bacterial invasion of epithelial cells
    5879 (RAC1)
  09172 Infectious disease: viral
   05170 Human immunodeficiency virus 1 infection
    5879 (RAC1)
   05163 Human cytomegalovirus infection
    5879 (RAC1)
   05167 Kaposi sarcoma-associated herpesvirus infection
    5879 (RAC1)
   05169 Epstein-Barr virus infection
    5879 (RAC1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    5879 (RAC1)
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    5879 (RAC1)
   04031 GTP-binding proteins [BR:hsa04031]
    5879 (RAC1)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Small GTPases and associated proteins
   Rho GTPases
    5879 (RAC1)
 Endocytosis
  Lipid raft mediated endocytosis
   Arf6-dependent endocytosis
    5879 (RAC1)
  Macropinocytosis
   Ras GTPases
    5879 (RAC1)
 Others
  NADPH oxidases (Nox) and associated proteins
   Nox associated proteins
    5879 (RAC1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of haemopoietic cells  (B-cell, T-cell, DC-cell, reticulocyte, and mast cell)
   5879 (RAC1)
  Exosomal proteins of other body fluids (saliva and urine)
   5879 (RAC1)
  Exosomal proteins of colorectal cancer cells
   5879 (RAC1)
  Exosomal proteins of bladder cancer cells
   5879 (RAC1)
GTP-binding proteins [BR:hsa04031]
 Small (monomeric) G-proteins
  Rho Family
   Rac/Cdc42 [OT]
    5879 (RAC1)
SSDB
Motif
Pfam: Ras Roc Arf CagD
Other DBs
NCBI-GeneID: 5879
NCBI-ProteinID: NP_008839
OMIM: 602048
HGNC: 9801
Ensembl: ENSG00000136238
Vega: OTTHUMG00000023540
Pharos: P63000(Tbio)
UniProt: P63000 A4D2P1
LinkDB
Structure
PDB: 

Position
7p22.1
AA seq 192 aa
MQAIKCVVVGDGAVGKTCLLISYTTNAFPGEYIPTVFDNYSANVMVDGKPVNLGLWDTAG
QEDYDRLRPLSYPQTDVFLICFSLVSPASFENVRAKWYPEVRHHCPNTPIILVGTKLDLR
DDKDTIEKLKEKKLTPITYPQGLAMAKEIGAVKYLECSALTQRGLKTVFDEAIRAVLCPP
PVKKRKRKCLLL
NT seq 579 nt   +upstreamnt  +downstreamnt
atgcaggccatcaagtgtgtggtggtgggagacggagctgtaggtaaaacttgcctactg
atcagttacacaaccaatgcatttcctggagaatatatccctactgtctttgacaattat
tctgccaatgttatggtagatggaaaaccggtgaatctgggcttatgggatacagctgga
caagaagattatgacagattacgccccctatcctatccgcaaacagatgtgttcttaatt
tgcttttcccttgtgagtcctgcatcatttgaaaatgtccgtgcaaagtggtatcctgag
gtgcggcaccactgtcccaacactcccatcatcctagtgggaactaaacttgatcttagg
gatgataaagacacgatcgagaaactgaaggagaagaagctgactcccatcacctatccg
cagggtctagccatggctaaggagattggtgctgtaaaatacctggagtgctcggcgctc
acacagcgaggcctcaagacagtgtttgacgaagcgatccgagcagtcctctgcccgcct
cccgtgaagaagaggaagagaaaatgcctgctgttgtaa

KEGG   Homo sapiens (human): 5880
Entry
5880              CDS       T01001                                 

Gene name
RAC2, EN-7, Gx, HSPC022, IMD73A, IMD73B, IMD73C, p21-Rac2
Definition
(RefSeq) Rac family small GTPase 2
  KO
K07860  Ras-related C3 botulinum toxin substrate 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04014  Ras signaling pathway
hsa04015  Rap1 signaling pathway
hsa04024  cAMP signaling pathway
hsa04062  Chemokine signaling pathway
hsa04071  Sphingolipid signaling pathway
hsa04310  Wnt signaling pathway
hsa04360  Axon guidance
hsa04370  VEGF signaling pathway
hsa04510  Focal adhesion
hsa04520  Adherens junction
hsa04650  Natural killer cell mediated cytotoxicity
hsa04662  B cell receptor signaling pathway
hsa04664  Fc epsilon RI signaling pathway
hsa04666  Fc gamma R-mediated phagocytosis
hsa04670  Leukocyte transendothelial migration
hsa04810  Regulation of actin cytoskeleton
hsa05020  Prion disease
hsa05135  Yersinia infection
hsa05163  Human cytomegalovirus infection
hsa05170  Human immunodeficiency virus 1 infection
hsa05200  Pathways in cancer
hsa05210  Colorectal cancer
hsa05212  Pancreatic cancer
hsa05231  Choline metabolism in cancer
hsa05416  Viral myocarditis
hsa05418  Fluid shear stress and atherosclerosis
Network
nt06124  Chemokine signaling (viruses)
nt06135  Cytoskeletal regulation (viruses and bacteria)
nt06150  Cytokine-cytokine receptor interaction (viruses)
nt06161  Human immunodeficiency virus type 1 (HIV-1)
nt06167  Human cytomegalovirus (HCMV)
nt06415  PI3K signaling
nt06465  Prion disease
  Element
N00394  HCMV gH to ITGA/B-RhoA signaling pathway
N00433  CXCR4-GNB/G-RAC signaling pathway
N00434  HIV gp120 to CXCR4-GNB/G-RAC signaling pathway
N00951  ITGA/B-RHOG-RAC signaling pathway
N01068  ITGA/B-FAK-RAC signaling pathway
N01090  IGG-FCGR-RAC signaling pathway
N01103  Yersinia YpkA to IGG-FCGR-RAC signaling pathway
N01204  PRNP-PI3K-NOX2 signaling pathway
N01205  Scrapie conformation PrPSc to PRNP-PI3K-NOX2 signaling pathway
Disease
H00099  Leukocyte adhesion deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    5880 (RAC2)
   04014 Ras signaling pathway
    5880 (RAC2)
   04015 Rap1 signaling pathway
    5880 (RAC2)
   04310 Wnt signaling pathway
    5880 (RAC2)
   04370 VEGF signaling pathway
    5880 (RAC2)
   04071 Sphingolipid signaling pathway
    5880 (RAC2)
   04024 cAMP signaling pathway
    5880 (RAC2)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    5880 (RAC2)
   04520 Adherens junction
    5880 (RAC2)
  09142 Cell motility
   04810 Regulation of actin cytoskeleton
    5880 (RAC2)
 09150 Organismal Systems
  09151 Immune system
   04650 Natural killer cell mediated cytotoxicity
    5880 (RAC2)
   04662 B cell receptor signaling pathway
    5880 (RAC2)
   04664 Fc epsilon RI signaling pathway
    5880 (RAC2)
   04666 Fc gamma R-mediated phagocytosis
    5880 (RAC2)
   04670 Leukocyte transendothelial migration
    5880 (RAC2)
   04062 Chemokine signaling pathway
    5880 (RAC2)
  09158 Development and regeneration
   04360 Axon guidance
    5880 (RAC2)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    5880 (RAC2)
   05231 Choline metabolism in cancer
    5880 (RAC2)
  09162 Cancer: specific types
   05210 Colorectal cancer
    5880 (RAC2)
   05212 Pancreatic cancer
    5880 (RAC2)
  09164 Neurodegenerative disease
   05020 Prion disease
    5880 (RAC2)
  09166 Cardiovascular disease
   05418 Fluid shear stress and atherosclerosis
    5880 (RAC2)
   05416 Viral myocarditis
    5880 (RAC2)
  09171 Infectious disease: bacterial
   05135 Yersinia infection
    5880 (RAC2)
  09172 Infectious disease: viral
   05170 Human immunodeficiency virus 1 infection
    5880 (RAC2)
   05163 Human cytomegalovirus infection
    5880 (RAC2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04031 GTP-binding proteins [BR:hsa04031]
    5880 (RAC2)
GTP-binding proteins [BR:hsa04031]
 Small (monomeric) G-proteins
  Rho Family
   Rac/Cdc42 [OT]
    5880 (RAC2)
SSDB
Motif
Pfam: Ras Roc Arf
Other DBs
NCBI-GeneID: 5880
NCBI-ProteinID: NP_002863
OMIM: 602049
HGNC: 9802
Ensembl: ENSG00000128340
Vega: OTTHUMG00000150540
Pharos: P15153(Tbio)
UniProt: P15153 A0A024R1P2 V9H0H7
LinkDB
Structure
PDB: 
2W2T 2W2V 2W2X 1DS6

Position
22q13.1
AA seq 192 aa
MQAIKCVVVGDGAVGKTCLLISYTTNAFPGEYIPTVFDNYSANVMVDSKPVNLGLWDTAG
QEDYDRLRPLSYPQTDVFLICFSLVSPASYENVRAKWFPEVRHHCPSTPIILVGTKLDLR
DDKDTIEKLKEKKLAPITYPQGLALAKEIDSVKYLECSALTQRGLKTVFDEAIRAVLCPQ
PTRQQKRACSLL
NT seq 579 nt   +upstreamnt  +downstreamnt
atgcaggccatcaagtgtgtggtggtgggagatggggccgtgggcaagacctgccttctc
atcagctacaccaccaacgcctttcccggagagtacatccccaccgtgtttgacaactat
tcagccaatgtgatggtggacagcaagccagtgaacctggggctgtgggacactgctggg
caggaggactacgaccgtctccggccgctctcctatccacagacggacgtcttcctcatc
tgcttctccctcgtcagcccagcctcttatgagaacgtccgcgccaagtggttcccagaa
gtgcggcaccactgccccagcacacccatcatcctggtgggcaccaagctggacctgcgg
gacgacaaggacaccatcgagaaactgaaggagaagaagctggctcccatcacctacccg
cagggcctggcactggccaaggagattgactcggtgaaatacctggagtgctcagctctc
acccagagaggcctgaaaaccgtgttcgacgaggccatccgggccgtgctgtgccctcag
cccacgcggcagcagaagcgcgcctgcagcctcctctag

DBGET integrated database retrieval system