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Entry version 183 (31 Jul 2019)
Sequence version 2 (15 Jul 1999)
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Protein

DNA-binding protein RFXANK

Gene

RFXANK

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

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SIGNORi
O14593

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RFXANK
Synonyms:ANKRA1, RFXB
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:9987 RFXANK

Online Mendelian Inheritance in Man (OMIM)

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MIMi
603200 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O14593

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009941195L → P in BLS2; loss of expression. 2 PublicationsCorresponds to variant dbSNP:rs751386365Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi121D → V: Loss of expression. 1 Publication1
Mutagenesisi224Y → A: Loss of interaction with RFX5. 1 Publication1

Keywords - Diseasei

Disease mutation, SCID

Organism-specific databases

DisGeNET

More...
DisGeNETi
8625

MalaCards human disease database

More...
MalaCardsi
RFXANK
MIMi209920 phenotype

Open Targets

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OpenTargetsi
ENSG00000064490

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
572 Immunodeficiency by defective expression of MHC class II

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA34357

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RFXANK

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000670491 – 260DNA-binding protein RFXANKAdd BLAST260

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by RAF1.By similarity

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O14593

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O14593

MaxQB - The MaxQuant DataBase

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MaxQBi
O14593

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O14593

PeptideAtlas

More...
PeptideAtlasi
O14593

PRoteomics IDEntifications database

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PRIDEi
O14593

ProteomicsDB human proteome resource

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ProteomicsDBi
48101 [O14593-1]
48102 [O14593-2]
61266

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O14593

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O14593

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000064490 Expressed in 217 organ(s), highest expression level in body of stomach

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O14593 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O14593 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA049157
HPA053330

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114180, 42 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O14593

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
O14593

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000305071

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O14593

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati89 – 118ANK 1Add BLAST30
Repeati123 – 152ANK 2Add BLAST30
Repeati156 – 185ANK 3Add BLAST30
Repeati189 – 218ANK 4Add BLAST30
Repeati222 – 251ANK 5Add BLAST30

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0502 Eukaryota
COG0666 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160753

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000294108

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O14593

KEGG Orthology (KO)

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KOi
K08062

Identification of Orthologs from Complete Genome Data

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OMAi
GADSGHM

Database of Orthologous Groups

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OrthoDBi
1348558at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O14593

TreeFam database of animal gene trees

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TreeFami
TF333112

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.20, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR017362 DNA-bd_RFXANK

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12796 Ank_2, 1 hit
PF13606 Ank_3, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF038034 DNA-binding_RFXANK, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00248 ANK, 4 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48403 SSF48403, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GY33F5GY33_HUMAN
DNA-binding protein RFXANK
RFXANK
188Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A024R7P0A0A024R7P0_HUMAN
DNA-binding protein RFXANK
RFXANK hCG_38560
237Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H7D2F5H7D2_HUMAN
DNA-binding protein RFXANK
RFXANK
83Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YGQ6H0YGQ6_HUMAN
DNA-binding protein RFXANK
RFXANK
182Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YFZ0H0YFZ0_HUMAN
DNA-binding protein RFXANK
RFXANK
47Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YFU5H0YFU5_HUMAN
DNA-binding protein RFXANK
RFXANK
41Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS12395.1 [O14593-1]
CCDS62611.1 [O14593-3]

NCBI Reference Sequences

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RefSeqi
NP_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
XP_016882905.1, XM_017027416.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000303088; ENSP00000305071; ENSG00000064490 [O14593-1]
ENST00000407360; ENSP00000384572; ENSG00000064490 [O14593-1]
ENST00000456252; ENSP00000409138; ENSG00000064490 [O14593-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
8625

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:8625

UCSC genome browser

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UCSCi
uc002nls.4 human [O14593-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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
XP_016882905.1, XM_017027416.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3UXGX-ray1.85A90-260[»]
3V30X-ray1.57A90-260[»]
6MEWX-ray1.78A/C90-260[»]
SMRiO14593
ModBaseiSearch...

Protein-protein interaction databases

BioGridi114180, 42 interactors
CORUMiO14593
ELMiO14593
STRINGi9606.ENSP00000305071

PTM databases

iPTMnetiO14593
PhosphoSitePlusiO14593

Polymorphism and mutation databases

BioMutaiRFXANK

Proteomic databases

EPDiO14593
jPOSTiO14593
MaxQBiO14593
PaxDbiO14593
PeptideAtlasiO14593
PRIDEiO14593
ProteomicsDBi48101 [O14593-1]
48102 [O14593-2]
61266

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

Comparative Toxicogenomics Database

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CTDi
8625
DisGeNETi8625

GeneCards: human genes, protein and diseases

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GeneCardsi
RFXANK
HGNCiHGNC:9987 RFXANK
HPAiHPA049157
HPA053330
MalaCardsiRFXANK
MIMi209920 phenotype
603200 gene
neXtProtiNX_O14593
OpenTargetsiENSG00000064490
Orphaneti572 Immunodeficiency by defective expression of MHC class II
PharmGKBiPA34357

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0502 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00940000160753
HOGENOMiHOG000294108
InParanoidiO14593
KOiK08062
OMAiGADSGHM
OrthoDBi1348558at2759
PhylomeDBiO14593
TreeFamiTF333112

Enzyme and pathway databases

SIGNORiO14593

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
RFXANK

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
8625

Protein Ontology

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PROi
PR:O14593

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

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

Family and domain databases

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRFXK_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O14593
Secondary accession number(s): O95839, Q24JQ1, Q6FGA8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: July 15, 1999
Last modified: July 31, 2019
This is version 183 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

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