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RFXAP regulatory factor X associated protein [ Homo sapiens (human) ]

Gene ID: 5994, updated on 5-Aug-2018

Summary

Official Symbol
RFXAPprovided by HGNC
Official Full Name
regulatory factor X associated proteinprovided by HGNC
Primary source
HGNC:HGNC:9988
See related
Ensembl:ENSG00000133111 MIM:601861; Vega:OTTHUMG00000016738
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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 ankyrin-containing 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. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 3.9), brain (RPKM 3.7) and 25 other tissues See more
Orthologs

Genomic context

See RFXAP in Genome Data Viewer
Location:
13q13.3
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (36819202..36829603)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (37393339..37403740)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ADP ribosylation factor like GTPase 2 binding protein pseudogene 3 Neighboring gene nudE neurodevelopment protein 1 pseudogene 2 Neighboring gene SMAD family member 9 Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Antigen processing and presentation, organism-specific biosystem (from KEGG)
    Antigen processing and presentation, organism-specific biosystem
    Antigen processing and presentation
  • Antigen processing and presentation, conserved biosystem (from KEGG)
    Antigen processing and presentation, conserved biosystem
    Antigen processing and presentation
  • Primary immunodeficiency, organism-specific biosystem (from KEGG)
    Primary immunodeficiency, organism-specific biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
  • Primary immunodeficiency, conserved biosystem (from KEGG)
    Primary immunodeficiency, conserved biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
  • Tuberculosis, organism-specific biosystem (from KEGG)
    Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • Tuberculosis, conserved biosystem (from KEGG)
    Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity NAS
Non-traceable Author Statement
more info
PubMed 
transcription coactivator activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
positive regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
regulatory factor X-associated protein
Names
RFX DNA-binding complex 36 kDa subunit
RFX-associated protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007876.1 RefSeqGene

    Range
    5001..15402
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_103

mRNA and Protein(s)

  1. NM_000538.3NP_000529.1  regulatory factor X-associated protein

    See identical proteins and their annotated locations for NP_000529.1

    Status: REVIEWED

    Source sequence(s)
    AL159973, BC026088, BI823132
    Consensus CDS
    CCDS9359.1
    UniProtKB/Swiss-Prot
    O00287
    Related
    ENSP00000255476.2, OTTHUMP00000018260, ENST00000255476.2, OTTHUMT00000044521
    Conserved Domains (1) summary
    pfam15289
    Location:140243
    RFXA_RFXANK_bdg; Regulatory factor X-associated C-terminal binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

    Range
    36819202..36829603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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