KEGG   Homo sapiens (human): 5993Help
Entry
5993              CDS       T01001                                 

Gene name
RFX5
Definition
(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
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
    5993 (RFX5)
 09160 Human Diseases
  09163 Immune disease
   05340 Primary immunodeficiency
    5993 (RFX5)
  09171 Infectious disease: bacterial
   05152 Tuberculosis
    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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: RFX5_DNA_bdg RFX5_N RFX_DNA_binding Pox_D5
Motif
Other DBs
NCBI-GeneID: 5993
NCBI-ProteinID: NP_000440
OMIM: 601863
HGNC: 9986
Ensembl: ENSG00000143390
Vega: OTTHUMG00000012495
Pharos: P48382(Tbio)
UniProt: P48382
Structure
PDB: 

Position
1q21.3
AA seq 616 aa AA seqDB search
MAEDEPDAKSPKTGGRAPPGGAEAGEPTTLLQRLRGTISKAVQNKVEGILQDVQKFSDND
KLYLYLQLPSGPTTGDKSSEPSTLSNEEYMYAYRWIRNHLEEHTDTCLPKQSVYDAYRKY
CESLACCRPLSTANFGKIIREIFPDIKARRLGGRGQSKYCYSGIRRKTLVSMPPLPGLDL
KGSESPEMGPEVTPAPRDELVEAACALTCDWAERILKRSFSSIVEVARFLLQQHLISARS
AHAHVLKAMGLAEEDEHAPRERSSKPKNGLENPEGGAHKKPERLAQPPKDLEARTGAGPL
ARGERKKSVVESSAPGANNLQVNALVARLPLLLPRAPRSLIPPIPVSPPILAPRLSSGAL
KVATLPLSSRAGAPPAAVPIINMILPTVPALPGPGPGPGRAPPGGLTQPRGTENREVGIG
GDQGPHDKGVKRTAEVPVSEASGQAPPAKAAKQDIEDTASDAKRKRGRPRKKSGGSGERN
STPLKSAAAMESAQSSRLPWETWGSGGEGNSAGGAERPGPMGEAEKGAVLAQGQGDGTVS
KGGRGPGSQHTKEAEDKIPLVPSKVSVIKGSRSQKEAFPLAKGEVDTAPQGNKDLKEHVL
QSSLSQEHKDPKATPP
NT seq 1851 nt NT seq  +upstreamnt  +downstreamnt
atggcagaagatgagcctgatgctaagagccccaagactgggggaagggcccccccaggt
ggtgctgaggctggggaacctaccacccttcttcagaggctccgaggtaccatttccaag
gccgtgcagaacaaagtagaggggatcctgcaagatgtacagaaattttctgacaatgac
aagctgtatctctaccttcagctcccctcaggacccaccactggagacaaaagctcagag
ccaagtacactgagcaatgaggagtacatgtatgcctataggtggatccgcaaccacctg
gaagagcacactgacacctgtctgccaaagcaaagtgtttatgatgcctatcggaagtac
tgtgagagtcttgcctgttgccgcccactcagcacagccaactttggcaagatcatcaga
gagatcttccctgacatcaaagctcgaaggcttggtggccggggccagtccaaatattgc
tacagtggcataaggaggaagaccttggtgtctatgccacccctgcctggacttgaccta
aagggttctgagagtccagaaatgggcccagaagtaaccccagcacctcgagatgaactg
gtggaggcagcgtgtgccctgacctgtgactgggcagagcggatcctgaaacggtccttc
agttccatcgttgaggtcgcccgcttcctgctacagcagcatctcatctctgcccgatct
gcacatgcccatgtgcttaaggccatggggcttgctgaagaggacgaacatgcacctcgg
gaacggtcatctaaaccaaagaatggtttagagaacccagagggtggagcccacaagaag
ccagagagactggcccagcctcctaaggatctggaagcccgaactggggccggtcctctc
gcacgtggagagcggaagaagagtgtagttgagagctcggccccaggagccaataacctg
caggttaatgccctagtggctcggctgcctctgctccttccccgggcccctcgctcacta
attccgccaatcccagtctctccacctattctggcccccaggctttcttcaggtgccctg
aaagtggctacactgcctctgtctagtagggccggggcacccccagcagctgtgcccatc
attaacatgatcttaccaactgttcctgctttgcctggacctggacctgggcctgggcga
gctccacctgggggactcactcagccccggggcacagagaacagagaggtaggcataggt
ggtgaccaaggaccacatgacaagggtgtcaagaggacagctgaagtacctgtgagtgag
gccagtgggcaggctccaccagctaaagcagcaaagcaggatatagaggatacagcaagt
gatgccaaaaggaaacgggggcgccctcgaaaaaagtcaggtggaagtggggaaaggaat
tctacccctctcaagtcagcagctgccatggaatctgcccagtcctcaaggttaccatgg
gagacatggggctcaggaggggaaggcaactcagctggaggggcagagaggccagggcca
atgggagaggctgaaaagggggcagtacttgcccagggtcagggagatggtactgtttcc
aaaggaggaaggggccccggttcccagcataccaaagaagcagaagataaaattcccttg
gtcccctcaaaagtgagtgtcatcaagggcagcagaagccaaaaggaggcttttcctttg
gcaaagggagaggtagacactgcaccacagggtaataaagacttaaaggagcatgtgctt
caaagttccttatcccaggagcataaagacccaaaagcaacacccccatga

KEGG   Homo sapiens (human): 5994Help
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: RFXA_RFXANK_bdg
Motif
Other DBs
NCBI-GeneID: 5994
NCBI-ProteinID: NP_000529
OMIM: 601861
HGNC: 9988
Ensembl: ENSG00000133111
Vega: OTTHUMG00000016738
Pharos: O00287(Tbio)
UniProt: O00287
Structure
PDB: 

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

KEGG   Homo sapiens (human): 8625Help
Entry
8625              CDS       T01001                                 

Gene name
RFXANK, ANKRA1, BLS, F14150_1, RFX-B
Definition
(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
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
    8625 (RFXANK)
 09160 Human Diseases
  09163 Immune disease
   05340 Primary immunodeficiency
    8625 (RFXANK)
  09171 Infectious disease: bacterial
   05152 Tuberculosis
    8625 (RFXANK)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Ank_5 Ank_2 Ank_3 Ank Ank_4
Motif
Other DBs
NCBI-GeneID: 8625
NCBI-ProteinID: NP_003712
OMIM: 603200
HGNC: 9987
Ensembl: ENSG00000064490
Vega: OTTHUMG00000169224
Pharos: O14593(Tbio)
UniProt: O14593 A0A024R7M1
Structure
PDB: 

Position
19p13.11
AA seq 260 aa AA seqDB search
MELTQPAEDLIQTQQTPASELGDPEDPGEEAADGSDTVVLSLFPCTPEPVNPEPDASVSS
PQAGSSLKHSTTLTNRQRGNEVSALPATLDSLSIHQLAAQGELDQLKEHLRKGDNLVNKP
DERGFTPLIWASAFGEIETVRFLLEWGADPHILAKERESALSLASTGGYTDIVGLLLERD
VDINIYDWNGGTPLLYAVRGNHVKCVEALLARGADLTTEADSGYTPMDLAVALGYRKVQQ
VIENHILKLFQSNLVPADPE
NT seq 783 nt NT seq  +upstreamnt  +downstreamnt
atggagcttacccagcctgcagaagacctcatccagacccagcagacccctgcctcagaa
cttggggaccctgaagaccccggagaggaggctgcagatggctcagacactgtggtcctc
agtctctttccctgcacccctgagcctgtgaatcctgaaccggatgccagtgtttcctct
ccacaggcaggcagctccctgaagcactccaccactctcaccaaccggcagcgagggaac
gaggtgtcagctctgccggccaccctagactccctgtccatccaccagctcgcagcacag
ggggagctggaccagctgaaggagcatttgcggaaaggtgacaacctcgtcaacaagcca
gacgagcgcggcttcacccccctcatctgggcctccgcctttggagagattgagaccgtt
cgcttcctgctggagtggggtgccgacccccacatcctggcaaaagagcgagagagcgcc
ctgtcgctggccagcacaggcggctacacagacattgtggggctgctgctggagcgtgac
gtggacatcaacatctatgattggaatggagggacgccactgctgtacgctgtgcgcggg
aaccacgtgaaatgcgttgaggccttgctggcccgaggcgctgacctcaccaccgaagcc
gactctggctacaccccgatggaccttgccgtggccctgggataccggaaagtgcaacag
gtgatcgagaaccacatcctcaagctcttccagagcaacctggtgcccgctgaccctgag
tga

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