RFXANK

Protein identityUniProt · HPA

UniProt accession

O14593

Gene

RFXANK

Ensembl

ENSG00000064490

Chromosome

19

Canonical length

260 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

Quaternary structure

Homodimer

OverviewNCBI Gene

Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]

Canonical amino-acid sequenceUniProt

260 residues, UniProt reviewed canonical sequence.

>O14593|RFXANK
     1  MELTQPAEDL IQTQQTPASE LGDPEDPGEE AADGSDTVVL SLFPCTPEPV NPEPDASVSS
    61  PQAGSSLKHS TTLTNRQRGN EVSALPATLD SLSIHQLAAQ GELDQLKEHL RKGDNLVNKP
   121  DERGFTPLIW ASAFGEIETV RFLLEWGADP HILAKERESA LSLASTGGYT DIVGLLLERD
   181  VDINIYDWNG GTPLLYAVRG NHVKCVEALL ARGADLTTEA DSGYTPMDLA VALGYRKVQQ
   241  VIENHILKLF QSNLVPADPE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RFXANK can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.44

Highest tissue expression

39 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RFXANK.

Disease | AllUniProt

Conditions RFXANK is implicated in, by any mechanism.

• MHC class II deficiency 2 (MHC2D2) MIM:620815

Disease | GeneticClinVar

33 pathogenic / likely-pathogenic of 332 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• MHC class II deficiency
• MHC class II deficiency 2
• MHC class II deficiency 1
• RFXANK-related disorder
• MHC class II deficiency 3

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.12

gnomAD pLI

0

gnomAD missense Z

0.27

DepMap mean gene effect

-0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• positive regulation of MHC class II biosynthetic process
• positive regulation of transcription by RNA polymerase II
• Ras protein signal transduction

Molecular functions

• DNA binding
• histone deacetylase binding

Cellular components

• cytosol
• intercellular bridge
• nucleoplasm
• nucleus
• RNA polymerase II transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Ankyrin repeat
• Ankyrin repeat-containing domain superfamily
• Ankyrin repeat
• Ankyrin repeats (3 copies)
• DNA-binding, RFXANK

KeywordsUniProt

• Activator
• ANK repeat
• Cytoplasm
• DNA-binding
• Nucleus
• Repeat
• SCID
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of RFXANK in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RAF1
• RFX5
• RFX7
• RFXAP