KEGG T01001: 5994

Homo sapiens (human): 5994

Entry

5994 CDS T01001

Gene name

RFXAP

Definition

regulatory factor X-associated protein

Orthology

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 immunodeficiencies (CIDs)
H00985	Bare lymphocyte syndrome (BLS) type2

Class

Organismal Systems; Immune system; Antigen processing and presentation [PATH:hsa04612]
Human Diseases; Immune diseases; Primary immunodeficiency [PATH:hsa05340]
Human Diseases; Infectious diseases; Tuberculosis [PATH:hsa05152]

SSDB

Motif

Pfam:

RFXA_RFXANK_bdg

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Structure

PDB:

2KW3

Position

13q14

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

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (6)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (2)   
   UniProt (1)   
   RefSeq(pep) (1)   
DNA sequence (13)   
   RefSeq(nuc) (1)   
   GenBank (6)   
   EMBL (6)   
3D Structure (1)   
   PDB (1)   
Protein domain (1)   
   Pfam (1)   
All databases (40)   

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