Rfxank regulatory factor X-associated ankyrin-containing protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rfxankprovided by MGI
Official Full Name: regulatory factor X-associated ankyrin-containing proteinprovided by MGI
Primary source: MGI:MGI:1333865
See related: Ensembl:ENSMUSG00000036120 AllianceGenome:MGI:1333865
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Tvl1
Summary: Enables histone deacetylase binding activity. Acts upstream of or within Ras protein signal transduction and positive regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. Is expressed in central nervous system; genitourinary system; and retina. Human ortholog(s) of this gene implicated in MHC class II deficiency and severe combined immunodeficiency. Orthologous to human RFXANK (regulatory factor X associated ankyrin containing protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thymus adult (RPKM 12.3), colon adult (RPKM 10.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 B3.3; 8 34.15 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (70583456..70591847, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (70130806..70139197, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ANKRA, RFXANK, and CIITA are novel targets of class IIa HDACs which may deacetylases play a role in regulating MHCII expression
Title: Identification of the ankyrin repeat proteins ANKRA and RFXANK as novel partners of class IIa histone deacetylases.
Class II histone deacetylases (HDACs)4 and HDAC5 interact with the ankyrin repeats of ankyrin repeat, family A and RFXANK and, through association with RFXANK, repress MHC II promoter activation
Title: Class II histone deacetylases confer signal responsiveness to the ankyrin-repeat proteins ANKRA2 and RFXANK.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
contributes_to DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
contributes_to RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables histone deacetylase binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Ras protein signal transduction	IPI Inferred from Physical Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in intercellular bridge	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IGI Inferred from Genetic Interaction more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: DNA-binding protein RFXANK

Names: RFX-B; ankyrin repeat-containing adapter protein Tvl-1; regulatory factor X subunit B

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.

mRNA and Protein(s)

NM_001025589.1 → NP_001020760.1 DNA-binding protein RFXANK isoform 2

See identical proteins and their annotated locations for NP_001020760.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.

Source sequence(s)

AK052298, AK087462, CN526109

Consensus CDS

CCDS85552.1

UniProtKB/TrEMBL

Q3UK69, Q543F0

Related

ENSMUSP00000075140.9, ENSMUST00000075724.9

Conserved Domains (4) summary

cd00204
Location:117 → 237

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:127 → 216

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:93 → 143

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:122 → 153

ANK; ANK repeat [structural motif]
NM_011266.2 → NP_035396.1 DNA-binding protein RFXANK isoform 1

See identical proteins and their annotated locations for NP_035396.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).

Source sequence(s)

AF094761, AK052298, AK087462, CN526109

Consensus CDS

CCDS22360.1

UniProtKB/Swiss-Prot

Q9Z205

UniProtKB/TrEMBL

Q3UK69, Q53X17

Related

ENSMUSP00000148739.2, ENSMUST00000212320.2

Conserved Domains (3) summary

cd00204
Location:127 → 247

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:137 → 226

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:132 → 163

ANK; ANK repeat [structural motif]