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Cavin1 Gene Detail
Summary
  • Symbol
    Cavin1
  • Name
    caveolae associated 1
  • Synonyms
    2310075E07Rik, Cavin, cavin-1, Ptrf
  • Feature Type
    protein coding gene
  • IDs
    MGI:1277968
    NCBI Gene: 19285
  • Gene Overview
    MyGene.info: CAVIN1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr11:100956733-100970887 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14155 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 63.95 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    CAVIN1, caveolae associated protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CAVIN1, caveolae associated protein 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CAVIN, cavin-1, CGL4, FKSG13, PTRF
  • Links
    NCBI Gene ID: 284119
    neXtProt AC: NX_Q6NZI2
    UniProt: Q6NZI2

  • Chr Location
    17q21.2; chr17:42402449-42423320 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 7499
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: CAVIN1
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Cavin1 mouse models; 1 with human CAVIN1 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 1 allele in 2 genetic backgrounds
    25 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele exhibit the absence of calveolae, dyslipidemia, and glucose intolerance, pulmonary arterial hypertension, and urinary bladder abnormalities.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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.
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000002126 VEGA Gene Model | MGI Sequence Detail 14155 C57BL/6J ±  kb
    transcript OTTMUST00000004316 VEGA | MGI Sequence Detail 3491 Not Applicable  
    polypeptide OTTMUSP00000002049 VEGA | MGI Sequence Detail 392 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      98 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 101
      cDNA 100
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1916919, MGI:2144560
    References
    more
    • Summaries
      All 68
      Developmental Gene Expression 7
      Diseases 2
      Gene Ontology 13
      Phenotypes 25
    • Earliest
      J:48217 Jansa P, et al., Cloning and functional characterization of PTRF, a novel protein which induces dissociation of paused ternary transcription complexes. EMBO J. 1998 May 15;17(10):2855-64
    • Latest
      J:261596 Schilders K, et al., Generation of a biotinylatable Sox2 mouse model to identify Sox2 complexes in vivo. Transgenic Res. 2018 Feb;27(1):75-85

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory