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 immunodeficiencies (CIDs)
H00985  Bare lymphocyte syndrome (BLS) type2
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Organismal Systems
  Immune system
   04612 Antigen processing and presentation
    8625 (RFXANK)
 Human Diseases
  Immune diseases
   05340 Primary immunodeficiency
    8625 (RFXANK)
  Infectious diseases
   05152 Tuberculosis
    8625 (RFXANK)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Ank_2 Ank_5 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: 

Jmol
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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