Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P48382

- RFX5_HUMAN

UniProt

P48382 - RFX5_HUMAN

Protein

DNA-binding protein RFX5

Gene

RFX5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 1 (01 Feb 1996)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Activates transcription from class II MHC promoters. Recognizes X-boxes. Mediates cooperative binding between RFX and NF-Y. RFX binds the X1 box of MHC-II promoters.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi92 – 16877RFX-type winged-helixPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: ProtInc
    2. protein binding Source: IntAct
    3. sequence-specific DNA binding transcription factor activity Source: ProtInc

    GO - Biological processi

    1. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    2. regulation of transcription, DNA-templated Source: InterPro
    3. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    DNA-binding protein RFX5
    Alternative name(s):
    Regulatory factor X 5
    Gene namesi
    Name:RFX5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:9986. RFX5.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: ProtInc

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti149 – 1491R → Q in BLS2. 1 Publication
    VAR_015550

    Keywords - Diseasei

    Disease mutation, SCID

    Organism-specific databases

    MIMi209920. phenotype.
    Orphaneti572. Immunodeficiency by defective expression of HLA class 2.
    PharmGKBiPA34356.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 616615DNA-binding protein RFX5PRO_0000215292Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication
    Modified residuei185 – 1851Phosphoserine1 Publication

    Post-translational modificationi

    Phosphorylated.1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiP48382.
    PaxDbiP48382.
    PRIDEiP48382.

    PTM databases

    PhosphoSiteiP48382.

    Expressioni

    Tissue specificityi

    Ubiquitous.

    Gene expression databases

    ArrayExpressiP48382.
    BgeeiP48382.
    CleanExiHS_RFX5.
    GenevestigatoriP48382.

    Organism-specific databases

    HPAiHPA018519.

    Interactioni

    Subunit structurei

    Homodimer. 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.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    HDAC2Q927694EBI-923266,EBI-301821

    Protein-protein interaction databases

    BioGridi111925. 17 interactions.
    IntActiP48382. 4 interactions.
    MINTiMINT-7944772.
    STRINGi9606.ENSP00000290524.

    Structurei

    Secondary structure

    1
    616
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi30 – 367
    Helixi40 – 5415
    Helixi58 – 669
    Helixi74 – 785
    Beta strandi82 – 865
    Beta strandi178 – 1803

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2KW3NMR-A/B24-90[»]
    3V30X-ray1.57B167-183[»]
    ProteinModelPortaliP48382.
    SMRiP48382. Positions 24-90, 94-167.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP48382.

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni25 – 9066N-terminal domainAdd
    BLAST
    Regioni62 – 665Leucine-rich region; critical for dimer formation and for interaction with RFXAP

    Domaini

    The N-terminus is required for dimer formation, association with RFXANK and RFXAP, assembly of the RFX complex, and for binding of this complex to its X box target site in the MHC-II promoter. The C-terminus mediates cooperative binding between the RFX complex and NF-Y.1 Publication

    Sequence similaritiesi

    Belongs to the RFX family.PROSITE-ProRule annotation
    Contains 1 RFX-type winged-helix DNA-binding domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG315073.
    HOGENOMiHOG000037928.
    HOVERGENiHBG014939.
    InParanoidiP48382.
    KOiK08061.
    OMAiTCDWAER.
    OrthoDBiEOG7MD4P8.
    PhylomeDBiP48382.
    TreeFamiTF321340.

    Family and domain databases

    Gene3Di1.10.10.10. 1 hit.
    InterProiIPR003150. DNA-bd_RFX.
    IPR029298. RFX5_C.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view]
    PfamiPF14621. RFX5_DNA_bdg. 1 hit.
    PF02257. RFX_DNA_binding. 1 hit.
    [Graphical view]
    PROSITEiPS51526. RFX_DBD. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P48382-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAEDEPDAKS PKTGGRAPPG GAEAGEPTTL LQRLRGTISK AVQNKVEGIL    50
    QDVQKFSDND KLYLYLQLPS GPTTGDKSSE PSTLSNEEYM YAYRWIRNHL 100
    EEHTDTCLPK QSVYDAYRKY CESLACCRPL STANFGKIIR EIFPDIKARR 150
    LGGRGQSKYC YSGIRRKTLV SMPPLPGLDL KGSESPEMGP EVTPAPRDEL 200
    VEAACALTCD WAERILKRSF SSIVEVARFL LQQHLISARS AHAHVLKAMG 250
    LAEEDEHAPR ERSSKPKNGL ENPEGGAHKK PERLAQPPKD LEARTGAGPL 300
    ARGERKKSVV ESSAPGANNL QVNALVARLP LLLPRAPRSL IPPIPVSPPI 350
    LAPRLSSGAL KVATLPLSSR AGAPPAAVPI INMILPTVPA LPGPGPGPGR 400
    APPGGLTQPR GTENREVGIG GDQGPHDKGV KRTAEVPVSE ASGQAPPAKA 450
    AKQDIEDTAS DAKRKRGRPR KKSGGSGERN STPLKSAAAM ESAQSSRLPW 500
    ETWGSGGEGN SAGGAERPGP MGEAEKGAVL AQGQGDGTVS KGGRGPGSQH 550
    TKEAEDKIPL VPSKVSVIKG SRSQKEAFPL AKGEVDTAPQ GNKDLKEHVL 600
    QSSLSQEHKD PKATPP 616
    Length:616
    Mass (Da):65,323
    Last modified:February 1, 1996 - v1
    Checksum:i5EBB33C677BB717F
    GO
    Isoform 2 (identifier: P48382-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         78-117: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:576
    Mass (Da):60,513
    Checksum:iF8DEC5FCB5675383
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti149 – 1491R → Q in BLS2. 1 Publication
    VAR_015550
    Natural varianti197 – 1971R → Q.
    Corresponds to variant rs2233851 [ dbSNP | Ensembl ].
    VAR_034448
    Natural varianti409 – 4091P → R.
    Corresponds to variant rs2233854 [ dbSNP | Ensembl ].
    VAR_034449
    Natural varianti499 – 4991P → S.
    Corresponds to variant rs2233855 [ dbSNP | Ensembl ].
    VAR_034450

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei78 – 11740Missing in isoform 2. 1 PublicationVSP_055864Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X85786 mRNA. Translation: CAA59771.1.
    AK302891 mRNA. Translation: BAH13834.1.
    AL391069 Genomic DNA. Translation: CAH70327.1.
    CH471121 Genomic DNA. Translation: EAW53446.1.
    CH471121 Genomic DNA. Translation: EAW53447.1.
    CH471121 Genomic DNA. Translation: EAW53448.1.
    BC017471 mRNA. Translation: AAH17471.1.
    CCDSiCCDS994.1.
    PIRiI38155.
    RefSeqiNP_000440.1. NM_000449.3.
    NP_001020774.1. NM_001025603.1.
    XP_005245462.1. XM_005245405.1.
    XP_005245463.1. XM_005245406.1.
    UniGeneiHs.632472.

    Genome annotation databases

    EnsembliENST00000290524; ENSP00000290524; ENSG00000143390. [P48382-1]
    ENST00000368870; ENSP00000357864; ENSG00000143390. [P48382-1]
    ENST00000452671; ENSP00000389130; ENSG00000143390. [P48382-1]
    GeneIDi5993.
    KEGGihsa:5993.
    UCSCiuc001exv.1. human.

    Polymorphism databases

    DMDMi1350587.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    RFX5base

    RFX5 mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X85786 mRNA. Translation: CAA59771.1 .
    AK302891 mRNA. Translation: BAH13834.1 .
    AL391069 Genomic DNA. Translation: CAH70327.1 .
    CH471121 Genomic DNA. Translation: EAW53446.1 .
    CH471121 Genomic DNA. Translation: EAW53447.1 .
    CH471121 Genomic DNA. Translation: EAW53448.1 .
    BC017471 mRNA. Translation: AAH17471.1 .
    CCDSi CCDS994.1.
    PIRi I38155.
    RefSeqi NP_000440.1. NM_000449.3.
    NP_001020774.1. NM_001025603.1.
    XP_005245462.1. XM_005245405.1.
    XP_005245463.1. XM_005245406.1.
    UniGenei Hs.632472.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2KW3 NMR - A/B 24-90 [» ]
    3V30 X-ray 1.57 B 167-183 [» ]
    ProteinModelPortali P48382.
    SMRi P48382. Positions 24-90, 94-167.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111925. 17 interactions.
    IntActi P48382. 4 interactions.
    MINTi MINT-7944772.
    STRINGi 9606.ENSP00000290524.

    PTM databases

    PhosphoSitei P48382.

    Polymorphism databases

    DMDMi 1350587.

    Proteomic databases

    MaxQBi P48382.
    PaxDbi P48382.
    PRIDEi P48382.

    Protocols and materials databases

    DNASUi 5993.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000290524 ; ENSP00000290524 ; ENSG00000143390 . [P48382-1 ]
    ENST00000368870 ; ENSP00000357864 ; ENSG00000143390 . [P48382-1 ]
    ENST00000452671 ; ENSP00000389130 ; ENSG00000143390 . [P48382-1 ]
    GeneIDi 5993.
    KEGGi hsa:5993.
    UCSCi uc001exv.1. human.

    Organism-specific databases

    CTDi 5993.
    GeneCardsi GC01M151313.
    HGNCi HGNC:9986. RFX5.
    HPAi HPA018519.
    MIMi 209920. phenotype.
    601863. gene.
    neXtProti NX_P48382.
    Orphaneti 572. Immunodeficiency by defective expression of HLA class 2.
    PharmGKBi PA34356.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG315073.
    HOGENOMi HOG000037928.
    HOVERGENi HBG014939.
    InParanoidi P48382.
    KOi K08061.
    OMAi TCDWAER.
    OrthoDBi EOG7MD4P8.
    PhylomeDBi P48382.
    TreeFami TF321340.

    Miscellaneous databases

    EvolutionaryTracei P48382.
    GeneWikii RFX5.
    GenomeRNAii 5993.
    NextBioi 23349.
    PROi P48382.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P48382.
    Bgeei P48382.
    CleanExi HS_RFX5.
    Genevestigatori P48382.

    Family and domain databases

    Gene3Di 1.10.10.10. 1 hit.
    InterProi IPR003150. DNA-bd_RFX.
    IPR029298. RFX5_C.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view ]
    Pfami PF14621. RFX5_DNA_bdg. 1 hit.
    PF02257. RFX_DNA_binding. 1 hit.
    [Graphical view ]
    PROSITEi PS51526. RFX_DBD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome)."
      Steimle V., Durand B., Barras E., Zufferey M., Hadam M.R., Mach B., Reith W.
      Genes Dev. 9:1021-1032(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    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] (ISOFORM 2).
      Tissue: Testis.
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [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] (ISOFORM 1).
      Tissue: Uterus.
    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.
      Tissue: Lymphoblast.
    7. "A functionally essential domain of RFX5 mediates activation of major histocompatibility complex class II promoters by promoting cooperative binding between RFX and NF-Y."
      Villard J., Peretti M., Masternak K., Barras E., Caretti G., Mantovani R., Reith W.
      Mol. Cell. Biol. 20:3364-3376(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION.
    8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-185, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    10. "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 24-90, SUBUNIT, DOMAIN N-TERMINAL.
    11. Cited for: X-RAY CRYSTALLOGRAPHY (1.57 ANGSTROMS) OF 167-183 IN COMPLEX WITH RFXANK.
    12. "Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex."
      Nekrep N., Jabrane-Ferrat N., Peterlin B.M.
      Mol. Cell. Biol. 20:4455-4461(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BLS2 GLN-149.

    Entry informationi

    Entry nameiRFX5_HUMAN
    AccessioniPrimary (citable) accession number: P48382
    Secondary accession number(s): B7Z848
    , D3DV19, E9PFU4, Q5VWC3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1996
    Last sequence update: February 1, 1996
    Last modified: October 1, 2014
    This is version 130 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 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3