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Cfc1 Gene Detail
Summary
  • Symbol
    Cfc1
  • Name
    cripto, FRL-1, cryptic family 1
  • Synonyms
    b2b970Clo, cryptic
  • Feature Type
    protein coding gene
  • IDs
    MGI:109448
    NCBI Gene: 12627
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:34535648-34544311 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 13.34 cM, cytoband B
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    122 from dbSNP Build 142
  • Strain Annotations
    17
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109448
protein coding gene Chr1:34535648-34544313 (.)
129S1/SvImJ MGP_129S1SvImJ_G0015911
protein coding gene Chr1:32933529-32942174 (+)
A/J MGP_AJ_G0015895
protein coding gene Chr1:32140002-32148654 (+)
AKR/J MGP_AKRJ_G0015851
protein coding gene Chr1:32538474-32548898 (+)
BALB/cJ MGP_BALBcJ_G0015849
protein coding gene Chr1:31799258-31808814 (+)
C3H/HeJ MGP_C3HHeJ_G0015683
protein coding gene Chr1:32738910-32753372 (+)
C57BL/6NJ MGP_C57BL6NJ_G0016302
protein coding gene Chr1:34444162-34454241 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014024
protein coding gene Chr1:29300027-29308625 (+)
CAST/EiJ MGP_CASTEiJ_G0015263
protein coding gene Chr1:32609426-32617841 (+)
CBA/J MGP_CBAJ_G0015654
protein coding gene Chr1:35406740-35424358 (+)
DBA/2J MGP_DBA2J_G0015755
protein coding gene Chr1:31476662-31486910 (+)
FVB/NJ MGP_FVBNJ_G0015757
protein coding gene Chr1:31026562-31034896 (+)
LP/J MGP_LPJ_G0015825
protein coding gene Chr1:33279661-33288502 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0015777
protein coding gene Chr1:37655982-37664674 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0016349
protein coding gene Chr1:32534302-32543374 (+)
PWK/PhJ MGP_PWKPhJ_G0015046
protein coding gene Chr1:31212539-31221646 (+)
SPRET/EiJ no annotation
WSB/EiJ MGP_WSBEiJ_G0015325
protein coding gene Chr1:32526046-32535121 (+)



Homology
more
  • Human Ortholog
    CFC1, cripto, FRL-1, cryptic family 1
  • Vertebrate Orthologs
    7
  • Human Ortholog
    CFC1, cripto, FRL-1, cryptic family 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CFC1B, CRYPTIC, DTGA2, HTX2
  • Links
    NCBI Gene ID: 55997
    neXtProt AC: NX_P0CG37
    UniProt: P0CG37

  • Chr Location
    2q21.1; chr2:130592165-130599575 (-)  GRCh38.p7

  • Human Ortholog
    CFC1B, cripto, FRL-1, cryptic family 1B
    Orthology source: HGNC, HomoloGene
  • Links
    NCBI Gene ID: 653275
    neXtProt AC: NX_P0CG36
    UniProt: P0CG36

  • Chr Location
    2q21.1; chr2:130521094-130527992 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    4 with Cfc1 mouse models; 1 with human CFC1 associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
View 1 model
IDs
View 1 model
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    41 phenotypes from 4 alleles in 4 genetic backgrounds
    41 images
    18 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.
Targeted null mutations of this gene result in left-right laterality defects, including randomization of abdominal situs, asplenia or severe hyposplenia, pulmonary right isomerism, randomized embryo turning and cardiac looping, and postnatal death due tocomplex cardiac malformations.
Gene Ontology
(GO)
Classifications
less
  • 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 population 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 12627 NCBI Gene Model | MGI Sequence Detail 8664 C57BL/6J ±  kb
    transcript NM_007685 RefSeq | MGI Sequence Detail 1038 129/Sv  
    polypeptide P97766 UniProt | EBI | MGI Sequence Detail 202 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 14
      cDNA 10
      Primer pair 1
      Other 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-38493, MGI:2138529, MGI:5311344
    References
    more
    • Summaries
      All 66
      Developmental Gene Expression 22
      Diseases 3
      Gene Ontology 9
      Phenotypes 18
    • Earliest
      J:38387 Shen MM, et al., A differential display strategy identifies Cryptic, a novel EGF-related gene expressed in the axial and lateral mesoderm during mouse gastrulation. Development. 1997 Jan;124(2):429-42
    • Latest
      J:241347 Aykul S, et al., Biochemical and Cellular Analysis Reveals Ligand Binding Specificities, a Molecular Basis for Ligand Recognition, and Membrane Association-dependent Activities of Cripto-1 and Cryptic. J Biol Chem. 2017 Mar 10;292(10):4138-4151

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory