About   Help   FAQ
Cyfip1 Gene Detail
Summary
  • Symbol
    Cyfip1
  • Name
    cytoplasmic FMR1 interacting protein 1
  • Synonyms
    E030028J09Rik, l(7)1Rl, l7Rl1, P140SRA-1, pl-1, Shyc, Sra-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1338801
    NCBI Gene: 20430
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:55491556-55582381 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 33.42 cM, cytoband B5
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2944 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1338801
 protein coding gene Chr7:55491493-55582381 (+)
129S1/SvImJ MGP_129S1SvImJ_G0032313
 protein coding gene Chr7:56651457-56745534 (+)
A/J MGP_AJ_G0032292
 protein coding gene Chr7:55788267-55892221 (+)
AKR/J MGP_AKRJ_G0032228
 protein coding gene Chr7:57098993-57201694 (+)
BALB/cJ MGP_BALBcJ_G0032304
 protein coding gene Chr7:55408692-55501231 (+)
C3H/HeJ MGP_C3HHeJ_G0032017
 protein coding gene Chr7:57445555-57538943 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032797
 protein coding gene Chr7:59215361-59313578 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029804
 protein coding gene Chr7:58465765-58561224 (+)
CAST/EiJ MGP_CASTEiJ_G0031346
 protein coding gene Chr7:48652649-48746645 (+)
CBA/J MGP_CBAJ_G0031982
 protein coding gene Chr7:61258715-61358139 (+)
DBA/2J MGP_DBA2J_G0032139
 protein coding gene Chr7:54813080-54916901 (+)
FVB/NJ MGP_FVBNJ_G0032093
 protein coding gene Chr7:54770814-54863326 (+)
LP/J MGP_LPJ_G0032220
 protein coding gene Chr7:57708944-57803293 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032130
 protein coding gene Chr7:60786842-60881680 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032814
 protein coding gene Chr7:56085074-56180142 (+)
PWK/PhJ MGP_PWKPhJ_G0031066
 protein coding gene Chr7:48078868-48172173 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030907
 protein coding gene Chr7:44135667-44232091 (+)
WSB/EiJ MGP_WSBEiJ_G0031464
 protein coding gene Chr7:56726237-56819488 (+)



Homology
more
  • Human Ortholog
    CYFIP1, cytoplasmic FMR1 interacting protein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CYFIP1, cytoplasmic FMR1 interacting protein 1
  • Synonyms
    P140SRA-1, SHYC, SRA-1, SRA1
  • Links
    NCBI Gene ID: 23191
    neXtProt AC: NX_Q7L576
    UniProt: Q7L576

  • Chr Location
    15q11.2; chr15:22867052-22981063 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human CYFIP1 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 4 alleles in 3 genetic backgrounds
    30 phenotype references
Phenotype Overview

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.
Mutations at this locus result in embryonic lethality before the turning stage in homozygotes. Heterozygotes exhibit abnormal synaptic transmission. Parental origin of the mutant allele in heterozygotes has an effect on long term depression, cued fear conditioning, anxiety, and activity.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    98
  • GO References
    16
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.
Expression
less
Expression Overview

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
    773
  • Tissues
    43
  • cDNA Data
    23
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20430 NCBI Gene Model | MGI Sequence Detail 90826 C57BL/6J ±  kb
    transcript NM_001164661 RefSeq | MGI Sequence Detail 6524 C57BL/6  
    polypeptide Q7TMB8 UniProt | EBI | MGI Sequence Detail 1253 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 25
      cDNA 24
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1352763, MGI:2442012
    References
    more
    • Summaries
      All 84
      Developmental Gene Expression 8
      Gene Ontology 16
      Phenotypes 30
    • Earliest
      J:29903 Russell LB, et al., Complementation analyses for 45 mutations encompassing the pink-eyed dilution (p) locus of the mouse. Genetics. 1995 Dec;141(4):1547-62
    • Latest
      J:354447 Zhang Y, et al., Neurodevelopmental disorder-associated CYFIP2 regulates membraneless organelles and eIF2alpha phosphorylation via protein interactors and actin cytoskeleton. Hum Mol Genet. 2024 Sep 19;33(19):1671-1687
    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     		The Jackson Laboratory