CYFIP1 cytoplasmic FMR1 interacting protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYFIP1provided by HGNC
Official Full Name: cytoplasmic FMR1 interacting protein 1provided by HGNC
Primary source: HGNC:HGNC:13759
See related: Ensembl:ENSG00000273749 MIM:606322; AllianceGenome:HGNC:13759
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: SHYC; SRA1; SRA-1; P140SRA-1
Summary: This gene encodes a protein that regulates cytoskeletal dynamics and protein translation. The encoded protein is a component of the WAVE regulatory complex (WRC), which promotes actin polymerization. This protein also interacts with the synaptic functional regulator FMR1 protein and translation initiation factor 4E to inhibit protein translation. A large chromosomal deletion including this gene is associated with increased risk of schizophrenia and epilepsy in human patients. Reduced expression of this gene has been observed in various human cancers and the encoded protein may inhibit tumor invasion. [provided by RefSeq, Mar 2022]
Expression: Ubiquitous expression in placenta (RPKM 24.8), esophagus (RPKM 20.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q11.2

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (22867052..22980898, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (20538904..20652761, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (22892170..23006016)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of Function in the Neurodevelopmental Disease and Schizophrenia-Associated Gene CYFIP1 in Human Microglia-like Cells Supports a Functional Role in Synaptic Engulfment.
Title: Loss of Function in the Neurodevelopmental Disease and Schizophrenia-Associated Gene CYFIP1 in Human Microglia-like Cells Supports a Functional Role in Synaptic Engulfment.
Integrated machine learning-driven disulfidptosis profiling: CYFIP1 and EMILIN1 as therapeutic nodes in neuroblastoma.
Title: Integrated machine learning-driven disulfidptosis profiling: CYFIP1 and EMILIN1 as therapeutic nodes in neuroblastoma.
Different dysregulations of CYFIP1 and CYFIP2 in distinct types of dementia.
Title: Different dysregulations of CYFIP1 and CYFIP2 in distinct types of dementia.
Cytoplasmic FMR1 interacting protein (CYFIP) family members and their function in neural development and disorders.
Title: Cytoplasmic FMR1 interacting protein (CYFIP) family members and their function in neural development and disorders.
Haploinsufficiency of the schizophrenia and autism risk gene Cyfip1 causes abnormal postnatal hippocampal neurogenesis through microglial and Arp2/3 mediated actin dependent mechanisms.
Title: Haploinsufficiency of the schizophrenia and autism risk gene Cyfip1 causes abnormal postnatal hippocampal neurogenesis through microglial and Arp2/3 mediated actin dependent mechanisms.
Evidence for a Contribution of the Nlgn3/Cyfip1/Fmr1 Pathway in the Pathophysiology of Autism Spectrum Disorders.
Title: Evidence for a Contribution of the Nlgn3/Cyfip1/Fmr1 Pathway in the Pathophysiology of Autism Spectrum Disorders.
The human studies revealed profound deficits in grammatical reasoning, arithmetic reasoning, and working memory in BP1-BP2 (TUBGCP5, CYFIP1, NIPA2, and NIPA1) deletion carriers.
Title: Domain-Specific Cognitive Impairments in Humans and Flies With Reduced CYFIP1 Dosage.
this research identifies the behavioral and molecular consequences of CYFIP1 overexpression.
Title: CYFIP1 overexpression increases fear response in mice but does not affect social or repetitive behavioral phenotypes.
Surprisingly, Rac1 is not located at the binding site on the Sra1 subunit of the WAVE regulatory complex previously identified by mutagenesis and biochemical data. Rather, it binds to a distinct, conserved site on the opposite end of Sra1.
Title: Rac1 GTPase activates the WAVE regulatory complex through two distinct binding sites.
The current study provides further supports for contribution of CYFIP1/2 in the pathogenesis of autism spectrum disorder (ASD) and potentiates it as a peripheral marker for ASD diagnosis.
Title: Cytoplasmic FMRP interacting protein 1/2 (CYFIP1/2) expression analysis in autism.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15S1035 (e-PCR)
- UniSTS:24594

SHGC-85095 (e-PCR)
- UniSTS:103474

G43583 (e-PCR)
- UniSTS:95029

HSC15C102 (e-PCR)
- UniSTS:67640

RH94274 (e-PCR)
- UniSTS:87613

CYFIP1_3298 (e-PCR)
- UniSTS:462142

D15S714E (e-PCR)
- UniSTS:151614

D15S1260 (e-PCR)
- UniSTS:3403

RH64908 (e-PCR)
- UniSTS:89715

D15S18 (e-PCR)
- UniSTS:147601

RH91787 (e-PCR)
- UniSTS:89511

D15S542 (e-PCR)
- UniSTS:149446

G10722 (e-PCR)
- UniSTS:79048

SHGC-84535 (e-PCR)
- UniSTS:102878

RH1641 (e-PCR)
- UniSTS:73187

SHGC-81768 (e-PCR)
- UniSTS:103927

NIB1540 (e-PCR)
- UniSTS:63735

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA 7-methylguanosine cap binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to small GTPase binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables small GTPase binding	ISS Inferred from Sequence or Structural Similarity more info
enables translation repressor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in Rac protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axon extension	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to insulin stimulus	IEA Inferred from Electronic Annotation more info
involved_in cognition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dendrite extension	IEA Inferred from Electronic Annotation more info
involved_in lamellipodium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in lamellipodium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in modification of synaptic structure	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of synaptic vesicle recycling	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of translation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of Arp2/3 complex-mediated actin nucleation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of axon extension	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of dendrite development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of lamellipodium assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neurotrophin TRK receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ruffle assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of actin filament polymerization	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell shape	IEA Inferred from Electronic Annotation more info
involved_in regulation of modification of postsynaptic actin cytoskeleton	IEA Inferred from Electronic Annotation more info
involved_in regulation of myelination	IEA Inferred from Electronic Annotation more info
involved_in regulation of translation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of translation at postsynapse, modulating synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in response to electrical stimulus	IEA Inferred from Electronic Annotation more info
involved_in ruffle organization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of SCAR complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SCAR complex	IDA Inferred from Direct Assay more info	PubMed
part_of SCAR complex	IMP Inferred from Mutant Phenotype more info	PubMed
located_in axonal growth cone	IEA Inferred from Electronic Annotation more info
located_in central region of growth cone	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendritic growth cone	IEA Inferred from Electronic Annotation more info
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
located_in excitatory synapse	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in filopodium tip	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	HDA more info	PubMed
located_in lamellipodium	ISS Inferred from Sequence or Structural Similarity more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in peripheral region of growth cone	IEA Inferred from Electronic Annotation more info
located_in ruffle	ISS Inferred from Sequence or Structural Similarity more info
located_in secretory granule lumen	TAS Traceable Author Statement more info
located_in specific granule lumen	TAS Traceable Author Statement more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in terminal bouton	IEA Inferred from Electronic Annotation more info
located_in tertiary granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: cytoplasmic FMR1-interacting protein 1

Names: cytoplasmic FMRP interacting protein 1; selective hybridizing clone; 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.

Genomic

NG_054889.1 RefSeqGene

Range

5539..118855

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001033028.3 → NP_001028200.1 cytoplasmic FMR1-interacting protein 1 isoform b

Status: REVIEWED

Source sequence(s)

AC011767, AK024816, AY763579, BC005097, CB250660

Consensus CDS

CCDS73695.1

UniProtKB/Swiss-Prot

Q7L576

Related

ENSP00000480525.1, ENST00000617556.4

Conserved Domains (1) summary

pfam05994
Location:115 → 791

FragX_IP; Cytoplasmic Fragile-X interacting family
NM_001287810.4 → NP_001274739.1 cytoplasmic FMR1-interacting protein 1 isoform a

See identical proteins and their annotated locations for NP_001274739.1

Status: REVIEWED

Description

Transcript Variant: This variant (2), as well as variants 1, 3, and 4, encodes isoform a.

Source sequence(s)

AC011767, AC090764, CB250660

Consensus CDS

CCDS73696.1

UniProtKB/Swiss-Prot

A8K6D9, Q14467, Q5IED0, Q6ZSX1, Q7L576, Q9BSD9, Q9BVC7

UniProtKB/TrEMBL

X5D2F4

Related

ENSP00000478779.1, ENST00000610365.4

Conserved Domains (1) summary

pfam05994
Location:389 → 1222

FragX_IP; Cytoplasmic Fragile-X interacting family
NM_001324119.2 → NP_001311048.1 cytoplasmic FMR1-interacting protein 1 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (5) encodes the longest isoform (c).

Source sequence(s)

AC011767, AC090764, CB250660

UniProtKB/TrEMBL

X5D2F4
NM_001324120.2 → NP_001311049.1 cytoplasmic FMR1-interacting protein 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (3), as well as variants 1, 2, and 4, encodes isoform a.

Source sequence(s)

AC011767, AC090764, CB250660

Consensus CDS

CCDS73696.1

UniProtKB/Swiss-Prot

A8K6D9, Q14467, Q5IED0, Q6ZSX1, Q7L576, Q9BSD9, Q9BVC7

UniProtKB/TrEMBL

X5D2F4

Conserved Domains (1) summary

pfam05994
Location:389 → 1222

FragX_IP; Cytoplasmic Fragile-X interacting family
NM_001324122.3 → NP_001311051.1 cytoplasmic FMR1-interacting protein 1 isoform d

Status: REVIEWED

Source sequence(s)

AC011767, AC090764, CB250660
NM_001324123.3 → NP_001311052.1 cytoplasmic FMR1-interacting protein 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (4), as well as variants 1-3, encodes isoform a.

Source sequence(s)

AC011767, AC090764, CB250660

Consensus CDS

CCDS73696.1

UniProtKB/Swiss-Prot

A8K6D9, Q14467, Q5IED0, Q6ZSX1, Q7L576, Q9BSD9, Q9BVC7

UniProtKB/TrEMBL

X5D2F4

Conserved Domains (1) summary

pfam05994
Location:389 → 1222

FragX_IP; Cytoplasmic Fragile-X interacting family
NM_001324124.3 → NP_001311053.1 cytoplasmic FMR1-interacting protein 1 isoform e

Status: REVIEWED

Source sequence(s)

AC011767, AC090764, CB250660

UniProtKB/TrEMBL

X5D2F4
NM_001324125.3 → NP_001311054.1 cytoplasmic FMR1-interacting protein 1 isoform f

Status: REVIEWED

Source sequence(s)

AC011767, AC090764, CB250660

UniProtKB/TrEMBL

X5D2F4
NM_001324126.3 → NP_001311055.1 cytoplasmic FMR1-interacting protein 1 isoform g

Status: REVIEWED

Source sequence(s)

AC011767, AC090764, CB250660

UniProtKB/TrEMBL

X5D2F4
NM_014608.6 → NP_055423.1 cytoplasmic FMR1-interacting protein 1 isoform a

See identical proteins and their annotated locations for NP_055423.1

Status: REVIEWED

Description

Transcript Variant: This variant (1), as well as variants 2-4, encodes isoform a.

Source sequence(s)

AC011767, AC090764, CB250660

Consensus CDS

CCDS73696.1

UniProtKB/Swiss-Prot

A8K6D9, Q14467, Q5IED0, Q6ZSX1, Q7L576, Q9BSD9, Q9BVC7

UniProtKB/TrEMBL

X5D2F4

Related

ENSP00000481038.1, ENST00000617928.5

Conserved Domains (1) summary

pfam05994
Location:389 → 1222

FragX_IP; Cytoplasmic Fragile-X interacting family