KEGG   Homo sapiens (human): 5994
Entry
5994              CDS       T01001                                 

Gene name
RFXAP
Definition
(RefSeq) regulatory factor X associated protein
  KO
K08063  regulatory factor X-associated protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04612  Antigen processing and presentation
hsa05152  Tuberculosis
hsa05340  Primary immunodeficiency
Disease
H00093  Combined immunodeficiency
H00985  Bare lymphocyte syndrome type2
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09151 Immune system
   04612 Antigen processing and presentation
    5994 (RFXAP)
 09160 Human Diseases
  09163 Immune disease
   05340 Primary immunodeficiency
    5994 (RFXAP)
  09171 Infectious disease: bacterial
   05152 Tuberculosis
    5994 (RFXAP)
SSDB
Motif
Pfam: RFXA_RFXANK_bdg
Other DBs
NCBI-GeneID: 5994
NCBI-ProteinID: NP_000529
OMIM: 601861
HGNC: 9988
Ensembl: ENSG00000133111
Vega: OTTHUMG00000016738
Pharos: O00287(Tbio)
UniProt: O00287
LinkDB
Structure
PDB: 
2KW3

Position
13q13.3
AA seq 272 aa
MEAQGVAEGAGPGAASGVPHPAALAPAAAPTLAPASVAAAASQFTLLVMQPCAGQDEAAA
PGGSVGAGKPVRYLCEGAGDGEEEAGEDEADLLDTSDPPGGGESAASLEDLEDEETHSGG
EGSSGGARRRGSGGGSMSKTCTYEGCSETTSQVAKQRKPWMCKKHRNKMYKDKYKKKKSD
QALNCGGTASTGSAGNVKLEESADNILSIVKQRTGSFGDRPARPTLLEQVLNQKRLSLLR
SPEVVQFLQKQQQLLNQQVLEQRQQQFPGTSM
NT seq 819 nt   +upstreamnt  +downstreamnt
atggaggcgcagggtgtagcggagggcgcggggccgggcgccgccagcggcgtgccccac
cccgcggccctagccccggctgcggctcccaccttggcgccagcctcggtggcggccgcg
gcctctcaattcaccctgctagtgatgcaaccctgtgctgggcaggacgaggctgcggcc
cccgggggcagcgttggggcgggcaagcccgttaggtacctgtgcgaaggggccggggat
ggcgaagaggaggctggggaggacgaggcggacctgttagacacttcggaccctccgggg
ggaggcgagagcgcggctagtttggaggatctagaggacgaggagactcactcggggggc
gagggcagcagcgggggcgcccggaggcggggcagcggtgggggcagcatgagcaagacc
tgcacctacgaaggctgcagcgagaccacgagccaggtggccaagcagcgcaaaccgtgg
atgtgcaagaaacaccgcaacaagatgtacaaggacaagtataaaaagaagaagagcgac
caggccctgaactgcggtgggactgcctcgactggcagcgcgggaaacgtcaaactcgag
gaaagtgcagataacatactctccattgttaaacaaagaacaggatcttttggggatcgt
cctgcaagacctactcttttagaacaagtgttaaatcaaaaaagactgtcgttactaaga
agtccagaagtagtgcaatttttacagaaacagcaacagctattaaatcagcaagttttg
gagcaaagacaacagcagtttccaggaacatcaatgtga

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