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Protein

DNA-binding protein RFXANK

Gene

RFXANK

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

Functioni

Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator/CIITA. May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters (PubMed:9806546, PubMed:10072068, PubMed:10725724). May also potentiate the activation of RAF1 (By similarity).By similarity3 Publications
Isoform 2 is not involved in the positive regulation of MHC class II genes.1 Publication

GO - Molecular functioni

  • DNA binding Source: ProtInc
  • DNA-binding transcription factor activity Source: ProtInc
  • histone deacetylase binding Source: Ensembl
  • transcription coregulator activity Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiO14593

Names & Taxonomyi

Protein namesi
Recommended name:
DNA-binding protein RFXANK
Alternative name(s):
Ankyrin repeat family A protein 1
Regulatory factor X subunit B
Short name:
RFX-B
Regulatory factor X-associated ankyrin-containing protein
Gene namesi
Name:RFXANK
Synonyms:ANKRA1, RFXB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000064490.13
HGNCiHGNC:9987 RFXANK
MIMi603200 gene
neXtProtiNX_O14593

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

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Bare lymphocyte syndrome 2 (BLS2)4 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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009941195L → P in BLS2; loss of expression. 2 PublicationsCorresponds to variant dbSNP:rs751386365Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi121D → V: Loss of expression. 1 Publication1
Mutagenesisi224Y → A: Loss of interaction with RFX5. 1 Publication1

Keywords - Diseasei

Disease mutation, SCID

Organism-specific databases

DisGeNETi8625
MalaCardsiRFXANK
MIMi209920 phenotype
OpenTargetsiENSG00000064490
Orphaneti572 Immunodeficiency by defective expression of HLA class 2
PharmGKBiPA34357

Polymorphism and mutation databases

BioMutaiRFXANK

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000670491 – 260DNA-binding protein RFXANKAdd BLAST260

Post-translational modificationi

Phosphorylated by RAF1.By similarity

Proteomic databases

EPDiO14593
MaxQBiO14593
PaxDbiO14593
PeptideAtlasiO14593
PRIDEiO14593
ProteomicsDBi48101
48102 [O14593-2]

PTM databases

iPTMnetiO14593
PhosphoSitePlusiO14593

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000064490 Expressed in 217 organ(s), highest expression level in body of stomach
CleanExiHS_RFXANK
ExpressionAtlasiO14593 baseline and differential
GenevisibleiO14593 HS

Organism-specific databases

HPAiHPA049157
HPA053330

Interactioni

Subunit structurei

Forms homodimers (By similarity). 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. Interacts (via ankyrin repeats) with RFX5 (via PxLPxI/L motif); the interaction is direct. RFX forms cooperative DNA binding complexes with X2BP and CBF/NF-Y. RFX associates with CIITA to form an active transcriptional complex (PubMed:20732328, PubMed:22649097). Interacts with RAF1 (By similarity). Interacts (via ankyrin repeats) with RFX7 (via PxLPxI/L motif) (PubMed:25752541).By similarity3 PublicationsImported

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114180, 41 interactors
CORUMiO14593
ELMiO14593
STRINGi9606.ENSP00000305071

Structurei

Secondary structure

1260
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO14593
SMRiO14593
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati89 – 118ANK 1Add BLAST30
Repeati123 – 152ANK 2Add BLAST30
Repeati156 – 185ANK 3Add BLAST30
Repeati189 – 218ANK 4Add BLAST30
Repeati222 – 251ANK 5Add BLAST30

Domaini

Interacts with RAF1 via its C-terminal ankyrin repeat domain. The same domain also mediates its homodimerization (By similarity). The third ankyrin repeat is required for association with the two other RFX subunits; RFX5 and RFXAP. The three central ANK repeats mediate binding to the PxLPxI/L motif of RFX5 (PubMed:20732328, PubMed:22649097).By similarity2 Publications

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG0502 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00930000150856
HOGENOMiHOG000294108
HOVERGENiHBG017718
InParanoidiO14593
KOiK08062
OMAiGADSGHM
OrthoDBiEOG091G0BD5
PhylomeDBiO14593
TreeFamiTF333112

Family and domain databases

CDDicd00204 ANK, 1 hit
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR017362 DNA-bd_RFXANK
PfamiView protein in Pfam
PF12796 Ank_2, 1 hit
PF13606 Ank_3, 1 hit
PIRSFiPIRSF038034 DNA-binding_RFXANK, 1 hit
SMARTiView protein in SMART
SM00248 ANK, 4 hits
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 3 hits

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O14593-1) [UniParc]FASTAAdd to basket
Also known as: Long

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
        10         20         30         40         50
MELTQPAEDL IQTQQTPASE LGDPEDPGEE AADGSDTVVL SLFPCTPEPV
60 70 80 90 100
NPEPDASVSS PQAGSSLKHS TTLTNRQRGN EVSALPATLD SLSIHQLAAQ
110 120 130 140 150
GELDQLKEHL RKGDNLVNKP DERGFTPLIW ASAFGEIETV RFLLEWGADP
160 170 180 190 200
HILAKERESA LSLASTGGYT DIVGLLLERD VDINIYDWNG GTPLLYAVRG
210 220 230 240 250
NHVKCVEALL ARGADLTTEA DSGYTPMDLA VALGYRKVQQ VIENHILKLF
260
QSNLVPADPE
Length:260
Mass (Da):28,102
Last modified:July 15, 1999 - v2
Checksum:i6280B490F54816D2
GO
Isoform 2 (identifier: O14593-2) [UniParc]FASTAAdd to basket
Also known as: RFX-B-delta5

The sequence of this isoform differs from the canonical sequence as follows:
     63-63: Missing.
     91-113: SLSIHQLAAQGELDQLKEHLRKG → C
     159-172: Missing.

Show »
Length:223
Mass (Da):24,243
Checksum:iD0CC4523D656840B
GO
Isoform 3 (identifier: O14593-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     91-113: SLSIHQLAAQGELDQLKEHLRKG → C

Note: No experimental confirmation available.
Show »
Length:238
Mass (Da):25,652
Checksum:iCD46F8F674173B9E
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ENE6K7ENE6_HUMAN
DNA-binding protein RFXANK
RFXANK
145Annotation score:
A0A024R7P0A0A024R7P0_HUMAN
DNA-binding protein RFXANK
RFXANK hCG_38560
237Annotation score:
F5GY33F5GY33_HUMAN
DNA-binding protein RFXANK
RFXANK
188Annotation score:
F5H7D2F5H7D2_HUMAN
DNA-binding protein RFXANK
RFXANK
83Annotation score:
H0YGQ6H0YGQ6_HUMAN
DNA-binding protein RFXANK
RFXANK
182Annotation score:
H0YFZ0H0YFZ0_HUMAN
DNA-binding protein RFXANK
RFXANK
47Annotation score:
H0YFU5H0YFU5_HUMAN
DNA-binding protein RFXANK
RFXANK
41Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04831148E → D. Corresponds to variant dbSNP:rs34282046EnsemblClinVar.1
Natural variantiVAR_009941195L → P in BLS2; loss of expression. 2 PublicationsCorresponds to variant dbSNP:rs751386365Ensembl.1
Natural variantiVAR_014472251Q → E. Corresponds to variant dbSNP:rs1802498EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00028363Missing in isoform 2. 1 Publication1
Alternative sequenceiVSP_00028491 – 113SLSIH…HLRKG → C in isoform 2 and isoform 3. 2 PublicationsAdd BLAST23
Alternative sequenceiVSP_054618159 – 172Missing in isoform 2. 1 PublicationAdd BLAST14

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF094760 mRNA Translation: AAC69883.1
AF105427 mRNA Translation: AAD17972.1
AF105428 mRNA Translation: AAD17973.1
AF077196 mRNA Translation: AAD26991.1
CR542199 mRNA Translation: CAG46996.1
AC002126 Genomic DNA No translation available.
AC003110 Genomic DNA Translation: AAB86654.1
CH471106 Genomic DNA Translation: EAW84795.1
BC114558 mRNA Translation: AAI14559.1
BC114563 mRNA Translation: AAI14564.1
CCDSiCCDS12395.1 [O14593-1]
CCDS62611.1 [O14593-3]
RefSeqiNP_001265656.1, NM_001278727.1 [O14593-3]
NP_001265657.1, NM_001278728.1
NP_003712.1, NM_003721.3 [O14593-1]
NP_604389.1, NM_134440.2
XP_005260191.1, XM_005260134.4 [O14593-1]
XP_005260192.1, XM_005260135.3 [O14593-1]
XP_016882904.1, XM_017027415.1 [O14593-1]
XP_016882905.1, XM_017027416.1 [O14593-3]
UniGeneiHs.153629
Hs.296776

Genome annotation databases

EnsembliENST00000303088; ENSP00000305071; ENSG00000064490 [O14593-1]
ENST00000407360; ENSP00000384572; ENSG00000064490 [O14593-1]
ENST00000456252; ENSP00000409138; ENSG00000064490 [O14593-3]
GeneIDi8625
KEGGihsa:8625
UCSCiuc002nls.4 human [O14593-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

RFXANKbase

RFXANK mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF094760 mRNA Translation: AAC69883.1
AF105427 mRNA Translation: AAD17972.1
AF105428 mRNA Translation: AAD17973.1
AF077196 mRNA Translation: AAD26991.1
CR542199 mRNA Translation: CAG46996.1
AC002126 Genomic DNA No translation available.
AC003110 Genomic DNA Translation: AAB86654.1
CH471106 Genomic DNA Translation: EAW84795.1
BC114558 mRNA Translation: AAI14559.1
BC114563 mRNA Translation: AAI14564.1
CCDSiCCDS12395.1 [O14593-1]
CCDS62611.1 [O14593-3]
RefSeqiNP_001265656.1, NM_001278727.1 [O14593-3]
NP_001265657.1, NM_001278728.1
NP_003712.1, NM_003721.3 [O14593-1]
NP_604389.1, NM_134440.2
XP_005260191.1, XM_005260134.4 [O14593-1]
XP_005260192.1, XM_005260135.3 [O14593-1]
XP_016882904.1, XM_017027415.1 [O14593-1]
XP_016882905.1, XM_017027416.1 [O14593-3]
UniGeneiHs.153629
Hs.296776

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3UXGX-ray1.85A90-260[»]
3V30X-ray1.57A90-260[»]
4QQMX-ray1.78A/C90-260[»]
ProteinModelPortaliO14593
SMRiO14593
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114180, 41 interactors
CORUMiO14593
ELMiO14593
STRINGi9606.ENSP00000305071

PTM databases

iPTMnetiO14593
PhosphoSitePlusiO14593

Polymorphism and mutation databases

BioMutaiRFXANK

Proteomic databases

EPDiO14593
MaxQBiO14593
PaxDbiO14593
PeptideAtlasiO14593
PRIDEiO14593
ProteomicsDBi48101
48102 [O14593-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303088; ENSP00000305071; ENSG00000064490 [O14593-1]
ENST00000407360; ENSP00000384572; ENSG00000064490 [O14593-1]
ENST00000456252; ENSP00000409138; ENSG00000064490 [O14593-3]
GeneIDi8625
KEGGihsa:8625
UCSCiuc002nls.4 human [O14593-1]

Organism-specific databases

CTDi8625
DisGeNETi8625
EuPathDBiHostDB:ENSG00000064490.13
GeneCardsiRFXANK
HGNCiHGNC:9987 RFXANK
HPAiHPA049157
HPA053330
MalaCardsiRFXANK
MIMi209920 phenotype
603200 gene
neXtProtiNX_O14593
OpenTargetsiENSG00000064490
Orphaneti572 Immunodeficiency by defective expression of HLA class 2
PharmGKBiPA34357
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0502 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00930000150856
HOGENOMiHOG000294108
HOVERGENiHBG017718
InParanoidiO14593
KOiK08062
OMAiGADSGHM
OrthoDBiEOG091G0BD5
PhylomeDBiO14593
TreeFamiTF333112

Enzyme and pathway databases

SIGNORiO14593

Miscellaneous databases

GeneWikiiRFXANK
GenomeRNAii8625
PROiPR:O14593
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000064490 Expressed in 217 organ(s), highest expression level in body of stomach
CleanExiHS_RFXANK
ExpressionAtlasiO14593 baseline and differential
GenevisibleiO14593 HS

Family and domain databases

CDDicd00204 ANK, 1 hit
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR017362 DNA-bd_RFXANK
PfamiView protein in Pfam
PF12796 Ank_2, 1 hit
PF13606 Ank_3, 1 hit
PIRSFiPIRSF038034 DNA-binding_RFXANK, 1 hit
SMARTiView protein in SMART
SM00248 ANK, 4 hits
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiRFXK_HUMAN
AccessioniPrimary (citable) accession number: O14593
Secondary accession number(s): O95839, Q24JQ1, Q6FGA8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: July 15, 1999
Last modified: November 7, 2018
This is version 177 of the entry and version 2 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

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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