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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
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:100847562-100861443 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 63.95 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    405 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1277968
 protein coding gene Chr11:100847559-100861713 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019174
 protein coding gene Chr11:103752796-103768960 (-)
A/J MGP_AJ_G0019142
 protein coding gene Chr11:99412091-99426013 (-)
AKR/J MGP_AKRJ_G0019111
 protein coding gene Chr11:102509017-102522953 (-)
BALB/cJ MGP_BALBcJ_G0019116
 protein coding gene Chr11:99907075-99921225 (-)
C3H/HeJ MGP_C3HHeJ_G0018925
 protein coding gene Chr11:102676890-102691954 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019565
 protein coding gene Chr11:106959550-106974646 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017191
 protein coding gene Chr11:96830704-96845183 (-)
CAST/EiJ MGP_CASTEiJ_G0018479
 protein coding gene Chr11:103655512-103669952 (-)
CBA/J MGP_CBAJ_G0018894
 protein coding gene Chr11:111425878-111441171 (-)
DBA/2J MGP_DBA2J_G0019006
 protein coding gene Chr11:98948084-98962333 (-)
FVB/NJ MGP_FVBNJ_G0018996
 protein coding gene Chr11:98491706-98506055 (-)
LP/J MGP_LPJ_G0019075
 protein coding gene Chr11:104305025-104319184 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019027
 protein coding gene Chr11:110999294-111014579 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019603
 protein coding gene Chr11:102818224-102833154 (-)
PWK/PhJ MGP_PWKPhJ_G0018242
 protein coding gene Chr11:99993287-100007965 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018034
 protein coding gene Chr11:102554384-102568519 (-)
WSB/EiJ MGP_WSBEiJ_G0018528
 protein coding gene Chr11:102815273-102835375 (-)



Homology
more
  • Human Ortholog
    CAVIN1, caveolae associated protein 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CAVIN1, caveolae associated protein 1
  • Synonyms
    CAVIN, cavin-1, CGL4, FKSG13, PTRF
  • Links
    NCBI Gene ID: 284119
    neXtProt AC: NX_Q6NZI2
    UniProt: Q6NZI2

  • Chr Location
    17q21.2
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
less
  • Phenotype Summary
    25 phenotypes from 1 allele in 2 genetic backgrounds
    37 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.
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
less
  • All GO Annotations
    37
  • 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
    770
  • Tissues
    56
  • cDNA Data
    99
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19285 NCBI Gene Model | MGI Sequence Detail 13882 C57BL/6J ±  kb
    transcript NM_008986 RefSeq | MGI Sequence Detail 3218 ZRU/MplStud  
    polypeptide O54724 UniProt | EBI | MGI Sequence Detail 392 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 103
      cDNA 101
      Primer pair 1
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1916919, MGI:2144560, MGI:5896592
    References
    more
    • Summaries
      All 83
      Developmental Gene Expression 8
      Diseases 2
      Gene Ontology 16
      Phenotypes 37
    • 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:348268 Tomita S, et al., The Cavin-1/Caveolin-1 interaction attenuates BMP/Smad signaling in pulmonary hypertension by interfering with BMPR2/Caveolin-1 binding. Commun Biol. 2024 Jan 5;7(1):40
    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)
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory