Cyfip1 cytoplasmic FMR1 interacting protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cyfip1provided by MGI
Official Full Name: cytoplasmic FMR1 interacting protein 1provided by MGI
Primary source: MGI:MGI:1338801
See related: Ensembl:ENSMUSG00000030447 AllianceGenome:MGI:1338801
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: Shyc; Sra1; pl-1; Sra-1; l71Rl; l7Rl1; l(7)1Rl; P140sra1; P140SRA-1; mKIAA0068; E030028J09Rik
Summary: Enables translation regulator activity. Involved in several processes, including dendrite extension; positive regulation of neurotrophin TRK receptor signaling pathway; and regulation of modification of postsynaptic actin cytoskeleton. Acts upstream of or within lamellipodium assembly. Located in several cellular components, including lamellipodium; perinuclear region of cytoplasm; and postsynapse. Part of mRNA cap binding activity complex. Is expressed in several structures, including embryo mesenchyme; lung; nervous system; skeletal muscle; and tooth. Human ortholog(s) of this gene implicated in autism spectrum disorder and schizophrenia. Orthologous to human CYFIP1 (cytoplasmic FMR1 interacting protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in bladder adult (RPKM 10.5), limb E14.5 (RPKM 10.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 33.42 cM; 7 B5

Exon count:: 33

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (55491556..55582381)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (55842022..55932633)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

Differential Role of the RAC1-Binding Proteins FAM49b (CYRI-B) and CYFIP1 in Platelets.
Title: Differential Role of the RAC1-Binding Proteins FAM49b (CYRI-B) and CYFIP1 in Platelets.
CYFIP1 Dosages Exhibit Divergent Behavioral Impact via Diametric Regulation of NMDA Receptor Complex Translation in Mouse Models of Psychiatric Disorders.
Title: CYFIP1 Dosages Exhibit Divergent Behavioral Impact via Diametric Regulation of NMDA Receptor Complex Translation in Mouse Models of Psychiatric Disorders.
Protein interactome and cell-type expression analyses reveal that cytoplasmic FMR1-interacting protein 1 (CYFIP1), but not CYFIP2, associates with astrocytic focal adhesion.
Title: Protein interactome and cell-type expression analyses reveal that cytoplasmic FMR1-interacting protein 1 (CYFIP1), but not CYFIP2, associates with astrocytic focal adhesion.
Treadmill exercise enhances synaptic plasticity in the ischemic penumbra of MCAO mice by inducing the expression of Camk2a via CYFIP1 upregulation.
Title: Treadmill exercise enhances synaptic plasticity in the ischemic penumbra of MCAO mice by inducing the expression of Camk2a via CYFIP1 upregulation.
Persistent Cyfip1 Expression Is Required to Maintain the Adult Subventricular Zone Neurogenic Niche.
Title: Persistent Cyfip1 Expression Is Required to Maintain the Adult Subventricular Zone Neurogenic Niche.
CYFIP1 dosage can bi-directionally impact inhibitory synaptic structure and function.
Title: Autism and Schizophrenia-Associated CYFIP1 Regulates the Balance of Synaptic Excitation and Inhibition.
Cyfip1 haploinsufficiency, mimicking human 15q11.2 microdeletion syndrome, does not alter hippocampal phasic or tonic GABAergic inhibition, substantially differing from the Fmrp knock-out mouse model.
Title: Cyfip1 Haploinsufficiency Does Not Alter GABA(A) Receptor δ-Subunit Expression and Tonic Inhibition in Dentate Gyrus PV(+) Interneurons and Granule Cells.
Cyfip1 haploinsufficiency increased compulsive-like behavior and induced genetic background-dependent, sex-dependent, and parent-of-origin-dependent effects on food consumption and CYFIP1 expression.
Title: Cyfip1 Haploinsufficiency Increases Compulsive-Like Behavior and Modulates Palatable Food Intake in Mice: Dependence on Cyfip2 Genetic Background, Parent-of Origin, and Sex.
Cyfip1 haploinsufficiency compromises brain connectivity and function, which might explain its genetic association to neuropsychiatric disorders.
Title: The autism- and schizophrenia-associated protein CYFIP1 regulates bilateral brain connectivity and behaviour.
Cyfip1 haploinsufficiency in mice led to decreased dendritic spine density and stability associated with social behavior and motor learning phenotypes. Behavioral training early in development resulted in alleviating the motor learning deficits caused by Cyfip1 haploinsufficiency.
Title: Behavioral training rescues motor deficits in Cyfip1 haploinsufficiency mouse model of autism spectrum disorders.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Associated conditions

Description	Tests
lethal, Chr 7, Russell 1 GeneReviews: Not available

Variation

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Alleles

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

Gene trapped (2)
Targeted (3) 1 citation
Chemically induced (ENU) (2)
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AV025579 (e-PCR)
- UniSTS:208129

AU022452 (e-PCR)
- UniSTS:208130

NoName (e-PCR)
- UniSTS:235677

AF072697 (e-PCR)
- UniSTS:208126

AV310063 (e-PCR)
- UniSTS:208127

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA 7-methylguanosine cap binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA 7-methylguanosine cap binding	ISO Inferred from Sequence Orthology more info
enables actin binding	IEA Inferred from Electronic Annotation more info
enables profilin binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to small GTPase binding	ISO Inferred from Sequence Orthology more info
enables translation repressor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Rac protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in axon extension	ISO Inferred from Sequence Orthology more info
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to insulin stimulus	ISO Inferred from Sequence Orthology more info
involved_in cognition	ISO Inferred from Sequence Orthology more info
involved_in dendrite extension	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lamellipodium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lamellipodium assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in modification of synaptic structure	IBA Inferred from Biological aspect of Ancestor more info
involved_in modification of synaptic structure	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of synaptic vesicle recycling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within nervous system development	IEA Inferred from Electronic Annotation more info
involved_in neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Arp2/3 complex-mediated actin nucleation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of axon extension	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of axonogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of dendrite development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of lamellipodium assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neurotrophin TRK receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ruffle assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of actin filament polymerization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of cell shape	IEA Inferred from Electronic Annotation more info
involved_in regulation of modification of postsynaptic actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of modification of postsynaptic actin cytoskeleton	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of myelination	ISO Inferred from Sequence Orthology more info
involved_in regulation of translation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of translation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of translation at postsynapse, modulating synaptic transmission	EXP Inferred from Experiment more info	PubMed
involved_in regulation of translation at postsynapse, modulating synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of translation at postsynapse, modulating synaptic transmission	IEP Inferred from Expression Pattern more info	PubMed
involved_in regulation of translation at postsynapse, modulating synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to electrical stimulus	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of SCAR complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SCAR complex	ISO Inferred from Sequence Orthology more info
located_in axonal growth cone	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in central region of growth cone	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in dendritic growth cone	ISO Inferred from Sequence Orthology more info
located_in dendritic spine	ISO Inferred from Sequence Orthology more info
located_in excitatory synapse	ISO Inferred from Sequence Orthology more info
located_in filopodium tip	ISO Inferred from Sequence Orthology more info
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in peripheral region of growth cone	ISO Inferred from Sequence Orthology more info
is_active_in postsynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in terminal bouton	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cytoplasmic FMR1-interacting protein 1

Names: specifically Rac1-associated protein 1

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_001164661.1 → NP_001158133.1 cytoplasmic FMR1-interacting protein 1 isoform a

See identical proteins and their annotated locations for NP_001158133.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform (a).

Source sequence(s)

AC102298, AC144633, AK028811, AK052509, AK152558, BB228046, CB527850

Consensus CDS

CCDS21315.1

UniProtKB/Swiss-Prot

O88558, Q3U7Q7, Q5DU50, Q7TMB8, Q7TSZ5, Q80VN6, Q8CE85, Q99LY1

Related

ENSMUSP00000127717.3, ENSMUST00000163845.4

Conserved Domains (1) summary

pfam05994
Location:389 → 1222

FragX_IP; Cytoplasmic Fragile-X interacting family
NM_001164662.1 → NP_001158134.1 cytoplasmic FMR1-interacting protein 1 isoform b

See identical proteins and their annotated locations for NP_001158134.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, contains an alternate in-frame exon and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting protein (isoform b) is shorter than isoform a.

Source sequence(s)

AC102298, AC144633, AK052509, BB228046, BC052713, CB527850

Consensus CDS

CCDS52262.1

UniProtKB/TrEMBL

A0A0R4J119

Related

ENSMUSP00000082353.5, ENSMUST00000085255.11

Conserved Domains (1) summary

pfam05994
Location:389 → 1220

FragX_IP; Cytoplasmic Fragile-X interacting family
NM_011370.3 → NP_035500.2 cytoplasmic FMR1-interacting protein 1 isoform a

See identical proteins and their annotated locations for NP_035500.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (a).

Source sequence(s)

AC102298, AC144633, AK028811, AK052509, AK146613, BB228046, CB527850

Consensus CDS

CCDS21315.1

UniProtKB/Swiss-Prot

O88558, Q3U7Q7, Q5DU50, Q7TMB8, Q7TSZ5, Q80VN6, Q8CE85, Q99LY1

Related

ENSMUSP00000032629.10, ENSMUST00000032629.16

Conserved Domains (1) summary

pfam05994
Location:389 → 1222

FragX_IP; Cytoplasmic Fragile-X interacting family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

55491556..55582381

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006540729.2 → XP_006540792.1 cytoplasmic FMR1-interacting protein 1 isoform X1

See identical proteins and their annotated locations for XP_006540792.1

UniProtKB/Swiss-Prot

O88558, Q3U7Q7, Q5DU50, Q7TMB8, Q7TSZ5, Q80VN6, Q8CE85, Q99LY1

Conserved Domains (1) summary

pfam05994
Location:389 → 1222

FragX_IP; Cytoplasmic Fragile-X interacting family
XM_017322067.3 → XP_017177556.1 cytoplasmic FMR1-interacting protein 1 isoform X2

Conserved Domains (1) summary

pfam05994
Location:1 → 662

FragX_IP; Cytoplasmic Fragile-X interacting family