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Protein

Regulatory factor X-associated protein

Gene

RFXAP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Part of the RFX complex that binds to the X-box of MHC II promoters.

GO - Molecular functioni

  • DNA binding Source: GO_Central
  • DNA-binding transcription factor activity Source: ProtInc
  • transcription coactivator activity Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionDNA-binding

Enzyme and pathway databases

SIGNORiO00287

Names & Taxonomyi

Protein namesi
Recommended name:
Regulatory factor X-associated protein
Short name:
RFX-associated protein
Alternative name(s):
RFX DNA-binding complex 36 kDa subunit
Gene namesi
Name:RFXAP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000133111.3
HGNCiHGNC:9988 RFXAP
MIMi601861 gene
neXtProtiNX_O00287

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Bare lymphocyte syndrome 2 (BLS2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections.
See also OMIM:209920

Keywords - Diseasei

SCID

Organism-specific databases

DisGeNETi5994
MalaCardsiRFXAP
MIMi209920 phenotype
OpenTargetsiENSG00000133111
Orphaneti572 Immunodeficiency by defective expression of HLA class 2
PharmGKBiPA34358

Polymorphism and mutation databases

BioMutaiRFXAP

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000973101 – 272Regulatory factor X-associated proteinAdd BLAST272

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki198Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Post-translational modificationi

Phosphorylated.

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiO00287
MaxQBiO00287
PaxDbiO00287
PeptideAtlasiO00287
PRIDEiO00287
ProteomicsDBi47822

PTM databases

iPTMnetiO00287
PhosphoSitePlusiO00287

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000133111 Expressed in 176 organ(s), highest expression level in female gonad
CleanExiHS_RFXAP
GenevisibleiO00287 HS

Organism-specific databases

HPAiHPA032035

Interactioni

Subunit structurei

The RFX heterotetrameric complex consists of 2 molecules of RFX5 and one each of RFXAP and RFX-B/RFXANK; with each subunit representing a separate complementation group. RFX forms cooperative DNA binding complexes with X2BP and CBF/NF-Y. RFX associates with CIITA to form an active transcriptional complex.1 Publication

Protein-protein interaction databases

BioGridi111926, 11 interactors
CORUMiO00287
IntActiO00287, 4 interactors
STRINGi9606.ENSP00000255476

Structurei

Secondary structure

1272
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO00287
SMRiO00287
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO00287

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni214 – 270C-terminal domainAdd BLAST57

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi163 – 178Nuclear localization signalSequence analysisAdd BLAST16

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi38 – 41Poly-Ala4
Compositional biasi171 – 178Poly-Lys8

Domaini

The C-terminal domain is necessary for the RFX complex formation.1 Publication

Phylogenomic databases

eggNOGiENOG410IYNY Eukaryota
ENOG4111S79 LUCA
GeneTreeiENSGT00390000006573
HOGENOMiHOG000154106
HOVERGENiHBG073517
InParanoidiO00287
KOiK08063
OMAiQALNCGG
OrthoDBiEOG091G1ATG
PhylomeDBiO00287
TreeFamiTF332759

Family and domain databases

Gene3Di1.20.120.1340, 1 hit
InterProiView protein in InterPro
IPR038308 RFXAP_C_sf
IPR029316 RFXAP_RFXANK-bd
PANTHERiPTHR15110 PTHR15110, 1 hit
PfamiView protein in Pfam
PF15289 RFXA_RFXANK_bdg, 1 hit

Sequencei

Sequence statusi: Complete.

O00287-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEAQGVAEGA GPGAASGVPH PAALAPAAAP TLAPASVAAA ASQFTLLVMQ
60 70 80 90 100
PCAGQDEAAA PGGSVGAGKP VRYLCEGAGD GEEEAGEDEA DLLDTSDPPG
110 120 130 140 150
GGESAASLED LEDEETHSGG EGSSGGARRR GSGGGSMSKT CTYEGCSETT
160 170 180 190 200
SQVAKQRKPW MCKKHRNKMY KDKYKKKKSD QALNCGGTAS TGSAGNVKLE
210 220 230 240 250
ESADNILSIV KQRTGSFGDR PARPTLLEQV LNQKRLSLLR SPEVVQFLQK
260 270
QQQLLNQQVL EQRQQQFPGT SM
Length:272
Mass (Da):28,232
Last modified:July 1, 1997 - v1
Checksum:iA6757F5F03D5F905
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti5G → S in AAH26088 (PubMed:15489334).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y12812 Genomic DNA Translation: CAA73338.1
AK313912 mRNA Translation: BAG36635.1
AL159973 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08575.1
BC026088 mRNA Translation: AAH26088.1
CCDSiCCDS9359.1
RefSeqiNP_000529.1, NM_000538.3
UniGeneiHs.24422

Genome annotation databases

EnsembliENST00000255476; ENSP00000255476; ENSG00000133111
GeneIDi5994
KEGGihsa:5994
UCSCiuc001uvu.2 human

Similar proteinsi

Cross-referencesi

Web resourcesi

RFXAPbase

RFXAP mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y12812 Genomic DNA Translation: CAA73338.1
AK313912 mRNA Translation: BAG36635.1
AL159973 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08575.1
BC026088 mRNA Translation: AAH26088.1
CCDSiCCDS9359.1
RefSeqiNP_000529.1, NM_000538.3
UniGeneiHs.24422

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KW3NMR-C214-272[»]
ProteinModelPortaliO00287
SMRiO00287
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111926, 11 interactors
CORUMiO00287
IntActiO00287, 4 interactors
STRINGi9606.ENSP00000255476

PTM databases

iPTMnetiO00287
PhosphoSitePlusiO00287

Polymorphism and mutation databases

BioMutaiRFXAP

Proteomic databases

EPDiO00287
MaxQBiO00287
PaxDbiO00287
PeptideAtlasiO00287
PRIDEiO00287
ProteomicsDBi47822

Protocols and materials databases

DNASUi5994
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000255476; ENSP00000255476; ENSG00000133111
GeneIDi5994
KEGGihsa:5994
UCSCiuc001uvu.2 human

Organism-specific databases

CTDi5994
DisGeNETi5994
EuPathDBiHostDB:ENSG00000133111.3
GeneCardsiRFXAP
HGNCiHGNC:9988 RFXAP
HPAiHPA032035
MalaCardsiRFXAP
MIMi209920 phenotype
601861 gene
neXtProtiNX_O00287
OpenTargetsiENSG00000133111
Orphaneti572 Immunodeficiency by defective expression of HLA class 2
PharmGKBiPA34358
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IYNY Eukaryota
ENOG4111S79 LUCA
GeneTreeiENSGT00390000006573
HOGENOMiHOG000154106
HOVERGENiHBG073517
InParanoidiO00287
KOiK08063
OMAiQALNCGG
OrthoDBiEOG091G1ATG
PhylomeDBiO00287
TreeFamiTF332759

Enzyme and pathway databases

SIGNORiO00287

Miscellaneous databases

EvolutionaryTraceiO00287
GeneWikiiRFXAP
GenomeRNAii5994
PROiPR:O00287
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000133111 Expressed in 176 organ(s), highest expression level in female gonad
CleanExiHS_RFXAP
GenevisibleiO00287 HS

Family and domain databases

Gene3Di1.20.120.1340, 1 hit
InterProiView protein in InterPro
IPR038308 RFXAP_C_sf
IPR029316 RFXAP_RFXANK-bd
PANTHERiPTHR15110 PTHR15110, 1 hit
PfamiView protein in Pfam
PF15289 RFXA_RFXANK_bdg, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRFXAP_HUMAN
AccessioniPrimary (citable) accession number: O00287
Secondary accession number(s): B2R9T8, Q5VZM6, Q8TC40
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 1, 1997
Last modified: September 12, 2018
This is version 137 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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