Rbfox1 MGI Mouse Gene Detail - MGI:1926224 - RNA binding protein, fox-1 homolog (C. elegans) 1

Rbfox1 Gene Detail

Symbol

Rbfox1
Name

RNA binding protein, fox-1 homolog (C. elegans) 1
Synonyms

A2bp, A2bp1, FOX1, HRNBP1

Feature Type

protein coding gene
IDs

MGI:1926224
NCBI Gene: 268859
Gene Overview

MyGene.info: RBFOX1
Alliance

gene page

Sequence Map

Chr16:6809222-7412479 bp, + strand
From Ensembl annotation of GRCm38

Mouse Genome Browser
Download
Sequence

603258 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 3.34 cM
Mapping Data

1 experiment

Human Ortholog

RBFOX1, RNA binding fox-1 homolog 1

Vertebrate Orthologs

8

Human Ortholog

RBFOX1, RNA binding fox-1 homolog 1
Orthology source: HomoloGene, HGNC
Synonyms

2BP1, A2BP1, FOX1, FOX-1, HRNBP1
Links

HGNC:18222

NCBI Gene ID: 54715

neXtProt AC: NX_Q9NWB1

UniProt: Q9NWB1
Chr Location

16p13.3; chr16:5239749-7713343 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 69339
1 human;1 mouse;1 rat;1 chimpanzee;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
HCOP

human homology predictions: RBFOX1
Protein SuperFamily

ataxin 2 binding protein, A2BP type
Gene Tree

Rbfox1

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Phenotype Summary

9 phenotypes from 1 allele in 1 genetic background
10 phenotypes from multigenic genotypes
11 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

5
Gene trapped

1
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

16 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a conditional allele activated in the brain exhibit reduced fertility, infrequent spontaneous seizures, increased susceptibility to kainic acid-induced seizures and lethality, and increased neuronal excitation.

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All GO Annotations

16
GO References

8

External Resources

FuncBase

Molecular Function

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

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	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

237
Tissues

53
cDNA Data

15
Literature Summary

13

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase rbfox1

ZFIN rbfox1

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Rbfox1 interacts with 308 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

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All Sequences

128
RefSeq

102
UniProt

1
CCDS

CCDS27936.1, CCDS37245.1
UniGene

370334

Ensembl

ENSMUSG00000008658 (Evidence)
NCBI Gene

268859

			Length	Strain/Species	Flank
genomic	ENSMUSG00000008658	Ensembl Gene Model \| MGI Sequence Detail	603258	C57BL/6J	± kb
transcript	ENSMUST00000056416	Ensembl \| MGI Sequence Detail	4084	Not Applicable
polypeptide	ENSMUSP00000049970	Ensembl \| MGI Sequence Detail	417	Not Applicable

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SNPs within 2kb

20350 from dbSNP Build 142

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UniProt

1 Sequence
Protein Ontology

PR:000007601 RNA binding protein fox-1 homolog 1

(term hierarchy)
InterPro Domains

IPR025670 Fox-1 C-terminal domain

IPR034237 FOX1, RNA recognition motif

IPR012677 Nucleotide-binding alpha-beta plait domain superfamily

IPR035979 RNA-binding domain superfamily

IPR017325 RNA binding protein Fox-1

IPR000504 RNA recognition motif domain

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All nucleic 17

cDNA 15

Primer pair 2

Microarray probesets 3

Summaries

All 55

Developmental Gene Expression 13

Gene Ontology 8

Phenotypes 11
Earliest

J:70808 Kiehl TR, et al., Identification and expression of a mouse ortholog of A2BP1. Mamm Genome. 2001 Aug;12(8):595-601
Latest

J:260772 Vuong CK, et al., Rbfox1 Regulates Synaptic Transmission through the Inhibitory Neuron-Specific vSNARE Vamp1. Neuron. 2018 Apr 4;98(1):127-141.e7

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 05/15/2018 MGI 6.12