KEGG   Homo sapiens (human): 5993
Entry
5993              CDS       T01001                                 
Symbol
RFX5, MHC2D3, MHC2D5
Name
(RefSeq) regulatory factor X5
  KO
K08061  regulatory factor X 5
Organism
hsa  Homo sapiens (human)
Pathway
hsa04612  Antigen processing and presentation
hsa05152  Tuberculosis
hsa05340  Primary immunodeficiency
Disease
H00985  MHC class II deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09151 Immune system
   04612 Antigen processing and presentation
    5993 (RFX5)
 09160 Human Diseases
  09171 Infectious disease: bacterial
   05152 Tuberculosis
    5993 (RFX5)
  09163 Immune disease
   05340 Primary immunodeficiency
    5993 (RFX5)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    5993 (RFX5)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Other basic domains
   RF-X
    5993 (RFX5)
SSDB
Motif
Pfam: RFX5_DNA_bdg RFX5_N RFX_DNA_binding Pox_D5
Other DBs
NCBI-GeneID: 5993
NCBI-ProteinID: NP_000440
OMIM: 601863
HGNC: 9986
Ensembl: ENSG00000143390
Pharos: P48382(Tbio)
UniProt: P48382
Structure
LinkDB
Position
1:complement(151340640..151347252)
AA seq 616 aa
MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQNKVEGILQDVQKFSDND
KLYLYLQLPSGPTTGDKSSEPSTLSNEEYMYAYRWIRNHLEEHTDTCLPKQSVYDAYRKY
CESLACCRPLSTANFGKIIREIFPDIKARRLGGRGQSKYCYSGIRRKTLVSMPPLPGLDL
KGSESPEMGPEVTPAPRDELVEAACALTCDWAERILKRSFSSIVEVARFLLQQHLISARS
AHAHVLKAMGLAEEDEHAPRERSSKPKNGLENPEGGAHKKPERLAQPPKDLEARTGAGPL
ARGERKKSVVESSAPGANNLQVNALVARLPLLLPRAPRSLIPPIPVSPPILAPRLSSGAL
KVATLPLSSRAGAPPAAVPIINMILPTVPALPGPGPGPGRAPPGGLTQPRGTENREVGIG
GDQGPHDKGVKRTAEVPVSEASGQAPPAKAAKQDIEDTASDAKRKRGRPRKKSGGSGERN
STPLKSAAAMESAQSSRLPWETWGSGGEGNSAGGAERPGPMGEAEKGAVLAQGQGDGTVS
KGGRGPGSQHTKEAEDKIPLVPSKVSVIKGSRSQKEAFPLAKGEVDTAPQGNKDLKEHVL
QSSLSQEHKDPKATPP
NT seq 1851 nt   +upstreamnt  +downstreamnt
atggcagaagatgagcctgatgctaagagccccaagactgggggaagggcccccccaggt
ggtgctgaggctggggaacctaccacccttcttcagaggctccgaggtaccatttccaag
gccgtgcagaacaaagtagaggggatcctgcaagatgtacagaaattttctgacaatgac
aagctgtatctctaccttcagctcccctcaggacccaccactggagacaaaagctcagag
ccaagtacactgagcaatgaggagtacatgtatgcctataggtggatccgcaaccacctg
gaagagcacactgacacctgtctgccaaagcaaagtgtttatgatgcctatcggaagtac
tgtgagagtcttgcctgttgccgcccactcagcacagccaactttggcaagatcatcaga
gagatcttccctgacatcaaagctcgaaggcttggtggccggggccagtccaaatattgc
tacagtggcataaggaggaagaccttggtgtctatgccacccctgcctggacttgaccta
aagggttctgagagtccagaaatgggcccagaagtaaccccagcacctcgagatgaactg
gtggaggcagcgtgtgccctgacctgtgactgggcagagcggatcctgaaacggtccttc
agttccatcgttgaggtcgcccgcttcctgctacagcagcatctcatctctgcccgatct
gcacatgcccatgtgcttaaggccatggggctcgctgaagaggacgaacatgcacctcgg
gaacggtcatctaaaccaaagaatggtttagagaacccagagggtggagcccacaagaag
ccagagagactggcccagcctcctaaggatctggaagcccgaactggggccggtcctctc
gcacgtggagagcggaagaagagtgtagttgagagctcggccccaggagccaataacctg
caggttaatgccctagtggctcggctgcctctgctccttccccgggcccctcgctcacta
attccgccaatcccagtctctccacctattctggcccccaggctttcttcaggtgccctg
aaagtggctacactgcctctgtctagtagggccggggcacccccagcagctgtgcccatc
attaacatgatcttaccaactgttcctgctttgcctggacctggacctgggcctgggcga
gctccacctgggggactcactcagccccggggcacagagaacagagaggtaggcataggt
ggtgaccaaggaccacatgacaagggtgtcaagaggacagctgaagtacctgtgagtgag
gccagtgggcaggctccaccagctaaagcagcaaagcaggatatagaggatacagcaagt
gatgccaaaaggaaacgggggcgccctcgaaaaaagtcaggtggaagtggggaaaggaat
tctacccctctcaagtcagcagctgccatggaatctgcccagtcctcaaggttaccatgg
gagacatggggctcaggaggggaaggcaactcagctggaggggcagagaggccagggcca
atgggagaggctgaaaagggggcagtacttgcccagggtcagggagatggtactgtttcc
aaaggaggaaggggccccggttcccagcataccaaagaagcagaagataaaattcccttg
gtcccctcaaaagtgagtgtcatcaagggcagcagaagccaaaaggaggcttttcctttg
gcaaagggagaggtagacactgcaccacagggtaataaagacttaaaggagcatgtgctt
caaagttccttatcccaggagcataaagacccaaaagcaacacccccatga

KEGG   Homo sapiens (human): 5994
Entry
5994              CDS       T01001                                 
Symbol
RFXAP, MHC2D4
Name
(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
H00985  MHC class II deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09151 Immune system
   04612 Antigen processing and presentation
    5994 (RFXAP)
 09160 Human Diseases
  09171 Infectious disease: bacterial
   05152 Tuberculosis
    5994 (RFXAP)
  09163 Immune disease
   05340 Primary immunodeficiency
    5994 (RFXAP)
SSDB
Motif
Pfam: RFXA_RFXANK_bdg
Other DBs
NCBI-GeneID: 5994
NCBI-ProteinID: NP_000529
OMIM: 601861
HGNC: 9988
Ensembl: ENSG00000133111
Pharos: O00287(Tbio)
UniProt: O00287
Structure
LinkDB
Position
13:36819222..36829104
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

KEGG   Homo sapiens (human): 8625
Entry
8625              CDS       T01001                                 
Symbol
RFXANK, ANKRA1, BLS, F14150_1, MHC2D2, RFX-B
Name
(RefSeq) regulatory factor X associated ankyrin containing protein
  KO
K08062  regulatory factor X-associated ankyrin-containing protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04612  Antigen processing and presentation
hsa05152  Tuberculosis
hsa05340  Primary immunodeficiency
Disease
H00985  MHC class II deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09151 Immune system
   04612 Antigen processing and presentation
    8625 (RFXANK)
 09160 Human Diseases
  09171 Infectious disease: bacterial
   05152 Tuberculosis
    8625 (RFXANK)
  09163 Immune disease
   05340 Primary immunodeficiency
    8625 (RFXANK)
SSDB
Motif
Pfam: Ank_2 Ank Ank_5 Ank_3 Ank_4
Other DBs
NCBI-GeneID: 8625
NCBI-ProteinID: NP_003712
OMIM: 603200
HGNC: 9987
Ensembl: ENSG00000064490
Pharos: O14593(Tbio)
UniProt: O14593
Structure
LinkDB
Position
19:19192258..19201866
AA seq 260 aa
MELTQPAEDLIQTQQTPASELGDPEDPGEEAADGSDTVVLSLFPCTPEPVNPEPDASVSS
PQAGSSLKHSTTLTNRQRGNEVSALPATLDSLSIHQLAAQGELDQLKEHLRKGDNLVNKP
DERGFTPLIWASAFGEIETVRFLLEWGADPHILAKERESALSLASTGGYTDIVGLLLERD
VDINIYDWNGGTPLLYAVRGNHVKCVEALLARGADLTTEADSGYTPMDLAVALGYRKVQQ
VIENHILKLFQSNLVPADPE
NT seq 783 nt   +upstreamnt  +downstreamnt
atggagcttacccagcctgcagaagacctcatccagacccagcagacccctgcctcagaa
cttggggaccctgaagaccccggagaggaggctgcagatggctcagacactgtggtcctc
agtctctttccctgcacccctgagcctgtgaatcctgaaccggatgccagtgtttcctct
ccacaggcaggcagctccctgaagcactccaccactctcaccaaccggcagcgagggaac
gaggtgtcagctctgccggccaccctagactccctgtccatccaccagctcgcagcacag
ggggagctggaccagctgaaggagcatttgcggaaaggtgacaacctcgtcaacaagcca
gacgagcgcggcttcacccccctcatctgggcctccgcctttggagagattgagaccgtt
cgcttcctgctggagtggggtgccgacccccacatcctggcaaaagagcgagagagcgcc
ctgtcgctggccagcacaggcggctacacagacattgtggggctgctgctggagcgtgac
gtggacatcaacatctatgattggaatggagggacgccactgctgtacgctgtgcgcggg
aaccacgtgaaatgcgttgaggccttgctggcccgaggcgctgacctcaccaccgaagcc
gactctggctacaccccgatggaccttgccgtggccctgggataccggaaagtgcaacag
gtgatcgagaaccacatcctcaagctcttccagagcaacctggtgcccgctgaccctgag
tga

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