Rfx1 MGI Mouse Gene Detail - MGI:105982 - regulatory factor X, 1 (influences HLA class II expression)

Symbol

Rfx1
Name

regulatory factor X, 1 (influences HLA class II expression)

Feature Type

protein coding gene
IDs

MGI:105982
NCBI Gene: 19724
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr8:84793463-84823621 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 40.28 cM
Mapping Data

5 experiments

SNPs within 2kb

658 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_105982	protein coding gene	Chr8:84789787-84823630 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0033853	protein coding gene	Chr8:84938126-84968471 (+)
A/J	MGP_AJ_G0033836	protein coding gene	Chr8:81611094-81641424 (+)
AKR/J	MGP_AKRJ_G0033762	protein coding gene	Chr8:84023592-84053918 (+)
BALB/cJ	MGP_BALBcJ_G0033829	protein coding gene	Chr8:81717143-81747746 (+)
C3H/HeJ	MGP_C3HHeJ_G0033539	protein coding gene	Chr8:84627865-84658197 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034349	protein coding gene	Chr8:88197386-88227526 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031291	protein coding gene	Chr8:75406907-75436668 (+)
CAST/EiJ	MGP_CASTEiJ_G0032869	protein coding gene	Chr8:84051288-84081414 (+)
CBA/J	MGP_CBAJ_G0033515	protein coding gene	Chr8:91311439-91341715 (+)
DBA/2J	MGP_DBA2J_G0033669	protein coding gene	Chr8:81245648-81275872 (+)
FVB/NJ	MGP_FVBNJ_G0033616	protein coding gene	Chr8:80167405-80198374 (+)
LP/J	MGP_LPJ_G0033760	protein coding gene	Chr8:85050365-85082239 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033658	protein coding gene	Chr8:93809895-93841792 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034366	protein coding gene	Chr8:83997575-84027693 (+)
PWK/PhJ	MGP_PWKPhJ_G0032573	protein coding gene	Chr8:80471676-80502195 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032409	protein coding gene	Chr8:82808813-82838976 (+)
WSB/EiJ	MGP_WSBEiJ_G0032982	protein coding gene	Chr8:84412401-84442630 (+)

Human Ortholog

RFX1, regulatory factor X1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

RFX1, regulatory factor X1
Synonyms

EFC, RFX
Links

HGNC:9982

NCBI Gene ID: 5989

neXtProt AC: NX_P22670

UniProt: P22670
Chr Location

19p13.12; chr19:13961530-14007039 (-) GRCh38

MGI Vertebrate Homology

Rfx1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: RFX1
Gene Tree

Rfx1

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Phenotype Summary

2 phenotypes from 2 alleles in 2 genetic backgrounds
8 phenotypes from multigenic genotypes
43 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

26
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

17
Radiation induced

1
Targeted

5
Genomic Mutations

2 involving Rfx1
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

46 strains or lines available

Mice homozygous for a gene trap allele die prior to implantation.

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All GO Annotations

12
GO References

6

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

772
Tissues

62
cDNA Data

52
Literature Summary

12

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase rfx1

ZFIN rfx1a, rfx1b

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All Sequences

64
RefSeq

19
UniProt

4
CCDS

CCDS22468.1

Ensembl

ENSMUSG00000031706 (Evidence)
NCBI Gene

19724

			Length	Strain/Species	Flank
genomic	ENSMUSG00000031706	Ensembl Gene Model \| MGI Sequence Detail	30159	C57BL/6J	± kb
transcript	ENSMUST00000005600	Ensembl \| MGI Sequence Detail	4172	Not Applicable
polypeptide	ENSMUSP00000005600	Ensembl \| MGI Sequence Detail	963	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000013923 MHC class II regulatory factor RFX1

(term hierarchy)
InterPro Domains

IPR003150 DNA-binding RFX-type winged-helix domain

IPR007668 RFX1 transcription activation region

IPR039779 RFX-like DNA-binding protein

IPR036390 Winged helix DNA-binding domain superfamily

IPR036388 Winged helix-like DNA-binding domain superfamily
GlyGen

P48377 8 sites, 1 O-linked glycan (8 sites)

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All nucleic 60

cDNA 56

Primer pair 2

Other 2

Microarray probesets 5

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MGD-MRK-33662, MGI:2142460, MGI:2142518

Summaries

All 85

Developmental Gene Expression 12

Gene Ontology 6

Phenotypes 43
Earliest

J:13049 Gruneberg H, Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet. 1956;54(1):113-145
Latest

J:348117 Okuma H, et al., N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on alpha-dystroglycan and prevents muscular dystrophy. Elife. 2023 Feb 1;12

TSS for Rfx1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr78347	Chr8:84793013-84793027 (+)	-443 bp
Tssr78348	Chr8:84793048-84793060 (+)	-409 bp
Tssr78349	Chr8:84793453-84793511 (+)	19 bp
Tssr78350	Chr8:84793531-84793548 (+)	77 bp
Tssr78351	Chr8:84800487-84800503 (+)	7,032 bp
Tssr78352	Chr8:84800505-84800528 (+)	7,054 bp
Tssr78353	Chr8:84800529-84800548 (+)	7,076 bp
Tssr78354	Chr8:84800568-84800575 (+)	7,109 bp
Tssr78355	Chr8:84810703-84810722 (+)	17,250 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24