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

Gene ID: 5994, updated on 19-Sep-2024

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; AllianceGenome:HGNC:9988
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
Also known as
MHC2D4
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
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Genomic context

See RFXAP in Genome Data Viewer
Location:
13q13.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (36819222..36829104)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (36038804..36048682)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (37393359..37403241)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene nudE neurodevelopment protein 1 pseudogene 2 Neighboring gene uncharacterized LOC124903158 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7590 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:37396223-37396437 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:37414257-37414991 Neighboring gene SMAD family member 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:37453240-37453740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5268 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5269 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 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

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)

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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_000538.4NP_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
    B2R9T8, O00287, Q5VZM6, Q8TC40
    Related
    ENSP00000255476.3, ENST00000255476.3
    Conserved Domains (1) summary
    pfam15289
    Location:140243
    RFXA_RFXANK_bdg; Regulatory factor X-associated C-terminal binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    36819222..36829104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    36038804..36048682
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)