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Protein

Regulatory factor X-associated protein

Gene

RFXAP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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: ProtInc
  • transcription coactivator activity Source: ProtInc
  • transcription factor activity, sequence-specific DNA binding Source: ProtInc

GO - Biological processi

  • regulation of nucleic acid-templated transcription Source: GOC
  • regulation of transcription, DNA-templated Source: GOC
Complete GO annotation...

Keywords - Ligandi

DNA-binding

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

HGNCiHGNC:9988. RFXAP.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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

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

Polymorphism and mutation databases

BioMutaiRFXAP.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 272272Regulatory factor X-associated proteinPRO_0000097310Add
BLAST

Post-translational modificationi

Phosphorylated.

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO00287.
MaxQBiO00287.
PaxDbiO00287.
PRIDEiO00287.

PTM databases

iPTMnetiO00287.
PhosphoSiteiO00287.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiO00287.
CleanExiHS_RFXAP.
GenevisibleiO00287. HS.

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. 10 interactions.
IntActiO00287. 3 interactions.
STRINGi9606.ENSP00000255476.

Structurei

Secondary structure

1
272
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi226 – 23712Combined sources
Helixi242 – 25817Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2KW3NMR-C214-272[»]
ProteinModelPortaliO00287.
SMRiO00287. Positions 214-272.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO00287.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni214 – 27057C-terminal domainAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi163 – 17816Nuclear localization signalSequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi38 – 414Poly-Ala
Compositional biasi171 – 1788Poly-Lys

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.
OMAiPCAGQDE.
OrthoDBiEOG7CVQ07.
PhylomeDBiO00287.
TreeFamiTF332759.

Family and domain databases

InterProiIPR029316. RFXAP_RFXANK-bd.
[Graphical view]
PfamiPF15289. RFXA_RFXANK_bdg. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti5 – 51G → S in AAH26088 (PubMed:15489334).Curated

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. Translation: CAH71159.1.
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.

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. Translation: CAH71159.1.
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
EntryMethodResolution (Å)ChainPositionsPDBsum
2KW3NMR-C214-272[»]
ProteinModelPortaliO00287.
SMRiO00287. Positions 214-272.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111926. 10 interactions.
IntActiO00287. 3 interactions.
STRINGi9606.ENSP00000255476.

PTM databases

iPTMnetiO00287.
PhosphoSiteiO00287.

Polymorphism and mutation databases

BioMutaiRFXAP.

Proteomic databases

EPDiO00287.
MaxQBiO00287.
PaxDbiO00287.
PRIDEiO00287.

Protocols and materials databases

DNASUi5994.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

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

Phylogenomic databases

eggNOGiENOG410IYNY. Eukaryota.
ENOG4111S79. LUCA.
GeneTreeiENSGT00390000006573.
HOGENOMiHOG000154106.
HOVERGENiHBG073517.
InParanoidiO00287.
KOiK08063.
OMAiPCAGQDE.
OrthoDBiEOG7CVQ07.
PhylomeDBiO00287.
TreeFamiTF332759.

Miscellaneous databases

EvolutionaryTraceiO00287.
GeneWikiiRFXAP.
GenomeRNAii5994.
PROiO00287.
SOURCEiSearch...

Gene expression databases

BgeeiO00287.
CleanExiHS_RFXAP.
GenevisibleiO00287. HS.

Family and domain databases

InterProiIPR029316. RFXAP_RFXANK-bd.
[Graphical view]
PfamiPF15289. RFXA_RFXANK_bdg. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency."
    Durand B., Sperisen P., Emery P., Barras E., Zufferey M., Mach B., Reith W.
    EMBO J. 16:1045-1055(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], PARTIAL PROTEIN SEQUENCE, INVOLVEMENT IN BLS2.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Thalamus.
  3. "The DNA sequence and analysis of human chromosome 13."
    Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
    Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  6. "RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency."
    Nagarajan U.M., Louis-Plence P., DeSandro A., Nilsen R., Bushey A., Boss J.M.
    Immunity 10:153-162(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL PROTEIN SEQUENCE, IDENTIFICATION BY MASS SPECTROMETRY, INVOLVEMENT IN BLS2.
    Tissue: Lymphoblast.
  7. "Solution structure of the heterotrimeric complex between the interaction domains of RFX5 and RFXAP from the RFX gene regulatory complex."
    Laird K.M., Briggs L.L., Boss J.M., Summers M.F., Garvie C.W.
    J. Mol. Biol. 403:40-51(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 214-272, SUBUNIT, DOMAIN C-TERMINAL.

Entry informationi

Entry nameiRFXAP_HUMAN
AccessioniPrimary (citable) accession number: O00287
Secondary accession number(s): B2R9T8, Q5VZM6, Q8TC40
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 1, 1997
Last modified: June 8, 2016
This is version 123 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.