O00287 (RFXAP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Regulatory factor X-associated protein
Short name=RFX-associated protein

Alternative name(s):
RFX DNA-binding complex 36 kDa subunit

Gene names

Name:

RFXAP

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	272 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Part of the RFX complex that binds to the X-box of MHC II promoters.
Subunit structure	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. Ref.8
Subcellular location	Nucleus.
Tissue specificity	Ubiquitous.
Domain	The C-terminal domain is necessary for the RFX complex formation. Ref.8
Post-translational modification	Phosphorylated.
Involvement in disease	Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.6

Ontologies

Keywords
Cellular component	Nucleus
Disease	SCID
Ligand	DNA-binding
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	positive regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: Compara
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Traceable author statement Ref.1. Source: ProtInc sequence-specific DNA binding transcription factor activity Non-traceable author statement Ref.1. Source: ProtInc transcription coactivator activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 272

272

Regulatory factor X-associated protein

PRO_0000097310

Regions

Region

214 – 270

57

C-terminal domain

Motif

163 – 178

16

Nuclear localization signal Potential

Compositional bias

38 – 41

4

Poly-Ala

Compositional bias

171 – 178

8

Poly-Lys

Experimental info

Sequence conflict

5

1

G → S in AAH26088. Ref.5

Secondary structure

1

.

.

.

.

.

272

Helix Strand Turn

Details...

Helix

226 – 237

12

Helix

242 – 258

17

Sequences

	Sequence		Length	Mass (Da)
	O00287 [UniParc]. Last modified July 1, 1997. Version 1. Checksum: A6757F5F03D5F905	FASTA	272	28,232
	10 20 30 40 50 60 MEAQGVAEGA GPGAASGVPH PAALAPAAAP TLAPASVAAA ASQFTLLVMQ PCAGQDEAAA 70 80 90 100 110 120 PGGSVGAGKP VRYLCEGAGD GEEEAGEDEA DLLDTSDPPG GGESAASLED LEDEETHSGG 130 140 150 160 170 180 EGSSGGARRR GSGGGSMSKT CTYEGCSETT SQVAKQRKPW MCKKHRNKMY KDKYKKKKSD 190 200 210 220 230 240 QALNCGGTAS TGSAGNVKLE ESADNILSIV KQRTGSFGDR PARPTLLEQV LNQKRLSLLR 250 260 270 SPEVVQFLQK QQQLLNQQVL EQRQQQFPGT SM

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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, MASS SPECTROMETRY, INVOLVEMENT IN BLS2. Tissue: Lymphoblast.
[7]	Erratum Nagarajan U.M., Louis-Plence P., DeSandro A., Nilsen R., Bushey A., Boss J.M. Immunity 10:399-399(1999)
[8]	"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.
+	Additional computationally mapped references.

Web resources

RFXAPbase

RFXAP mutation db

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00010890.

RefSeq

NP_000529.1. NM_000538.3.

UniGene

Hs.24422.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2KW3	NMR	-	C	214-272	[»]

ProteinModelPortal

O00287.

ModBase

Search...

Protein-protein interaction databases

IntAct

O00287. 1 interaction.

STRING

9606.ENSP00000255476.

PTM databases

PhosphoSite

O00287.

Proteomic databases

PaxDb

O00287.

PRIDE

O00287.

Protocols and materials databases

DNASU

5994.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000255476; ENSP00000255476; ENSG00000133111.

GeneID

5994.

KEGG

hsa:5994.

UCSC

uc001uvu.1. human.

Organism-specific databases

CTD

5994.

GeneCards

GC13P037393.

HGNC

HGNC:9988. RFXAP.

MIM

209920. phenotype.
601861. gene.

neXtProt

NX_O00287.

Orphanet

572. Immunodeficiency by defective expression of HLA class 2.

PharmGKB

PA34358.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG38795.

HOGENOM

HOG000154106.

HOVERGEN

HBG073517.

InParanoid

O00287.

KO

K08063.

OMA

LEDEETH.

OrthoDB

EOG4NZTVQ.

PhylomeDB

O00287.

Gene expression databases

Bgee

O00287.

CleanEx

HS_RFXAP.

Genevestigator

O00287.

GermOnline

ENSG00000133111. Homo sapiens.

Family and domain databases

ProtoNet

Search...

Other

EvolutionaryTrace

O00287.

GenomeRNAi

5994.

NextBio

23355.

SOURCE

Search...

Entry information

Entry name

RFXAP_HUMAN

Accession

Primary (citable) accession number: O00287
Secondary accession number(s): B2R9T8, Q5VZM6, Q8TC40

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	July 1, 1997
Last modified:	May 1, 2013
This is version 99 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.