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RFX5 regulatory factor X5 [ Homo sapiens (human) ]

Gene ID: 5993, updated on 26-May-2016
Official Symbol
RFX5provided by HGNC
Official Full Name
regulatory factor X5provided by HGNC
Primary source
HGNC:HGNC:9986
See related
Ensembl:ENSG00000143390 HPRD:03517; MIM:601863; Vega:OTTHUMG00000012495
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
A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008]
Orthologs
Location:
1q21
Exon count:
12
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (151340640..151347293, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151313116..151319785, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507670 Neighboring gene zinc finger protein 687 Neighboring gene phosphatidylinositol 4-kinase beta Neighboring gene glioblastoma multiforme-associated transcript 2 Neighboring gene selenium binding protein 1 Neighboring gene proteasome subunit beta 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
RNA polymerase II core promoter proximal region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor activity, sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
negative regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription from RNA polymerase II promoter IBA
Inferred from Biological aspect of Ancestor
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
DNA-binding protein RFX5
Names
regulatory factor X 5
regulatory factor X, 5 (influences HLA class II expression)

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_007576.1 RefSeqGene

    Range
    5001..11654
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_101

mRNA and Protein(s)

  1. NM_000449.3NP_000440.1  DNA-binding protein RFX5

    See identical proteins and their annotated locations for NP_000440.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AL391069, BX423384, X85786
    Consensus CDS
    CCDS994.1
    UniProtKB/Swiss-Prot
    P48382
    Related
    ENSP00000290524, OTTHUMP00000082795, ENST00000290524, OTTHUMT00000034892
    Conserved Domains (2) summary
    pfam02257
    Location:85168
    RFX_DNA_binding; RFX DNA-binding domain
    pfam14621
    Location:407614
    RFX5_DNA_bdg; RFX5 DNA-binding domain
  2. NM_001025603.1NP_001020774.1  DNA-binding protein RFX5

    See identical proteins and their annotated locations for NP_001020774.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL391069, BC017471, BX423384
    Consensus CDS
    CCDS994.1
    UniProtKB/Swiss-Prot
    P48382
    Related
    ENSP00000389130, OTTHUMP00000014465, ENST00000452671, OTTHUMT00000034893
    Conserved Domains (2) summary
    pfam02257
    Location:85168
    RFX_DNA_binding; RFX DNA-binding domain
    pfam14621
    Location:407614
    RFX5_DNA_bdg; RFX5 DNA-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    151340640..151347293 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509847.1XP_011508149.1  

    See identical proteins and their annotated locations for XP_011508149.1

    UniProtKB/Swiss-Prot
    P48382
    Conserved Domains (2) summary
    pfam02257
    Location:85168
    RFX_DNA_binding; RFX DNA-binding domain
    pfam14621
    Location:407614
    RFX5_DNA_bdg; RFX5 DNA-binding domain
  2. XM_005245406.2XP_005245463.1  

    See identical proteins and their annotated locations for XP_005245463.1

    UniProtKB/Swiss-Prot
    P48382
    Conserved Domains (2) summary
    pfam02257
    Location:85168
    RFX_DNA_binding; RFX DNA-binding domain
    pfam14621
    Location:407614
    RFX5_DNA_bdg; RFX5 DNA-binding domain
  3. XM_011509849.1XP_011508151.1  

    See identical proteins and their annotated locations for XP_011508151.1

    UniProtKB/Swiss-Prot
    P48382
    Conserved Domains (2) summary
    pfam02257
    Location:85168
    RFX_DNA_binding; RFX DNA-binding domain
    pfam14621
    Location:407614
    RFX5_DNA_bdg; RFX5 DNA-binding domain
  4. XM_005245405.1XP_005245462.1  

    See identical proteins and their annotated locations for XP_005245462.1

    UniProtKB/Swiss-Prot
    P48382
    Conserved Domains (2) summary
    pfam02257
    Location:85168
    RFX_DNA_binding; RFX DNA-binding domain
    pfam14621
    Location:407614
    RFX5_DNA_bdg; RFX5 DNA-binding domain
  5. XM_011509848.1XP_011508150.1  

    See identical proteins and their annotated locations for XP_011508150.1

    UniProtKB/Swiss-Prot
    P48382
    Conserved Domains (2) summary
    pfam02257
    Location:85168
    RFX_DNA_binding; RFX DNA-binding domain
    pfam14621
    Location:407614
    RFX5_DNA_bdg; RFX5 DNA-binding domain
  6. XM_011509850.1XP_011508152.1  

    See identical proteins and their annotated locations for XP_011508152.1

    UniProtKB/Swiss-Prot
    P48382
    Related
    ENSP00000376502, OTTHUMP00000082796, ENST00000392746, OTTHUMT00000156127
    Conserved Domains (2) summary
    pfam02257
    Location:85168
    RFX_DNA_binding; RFX DNA-binding domain
    pfam14621
    Location:407614
    RFX5_DNA_bdg; RFX5 DNA-binding domain

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    152708791..152715444 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)