KEGG   Homo sapiens (human): 8625
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)
SSDB
Motif
Pfam: Ank_5 Ank_2 Ank_3 Ank Ank_4
Other DBs
NCBI-GeneID: 8625
NCBI-ProteinID: NP_003712
OMIM: 603200
HGNC: 9987
Ensembl: ENSG00000064490
Vega: OTTHUMG00000169224
Pharos: O14593(Tbio)
UniProt: O14593 A0A024R7M1
LinkDB
Structure
PDB: 
3V30 6MEW 3UXG

Position
19p13.11
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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