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Ccbe1 Gene Detail
Summary
  • Symbol
    Ccbe1
  • Name
    collagen and calcium binding EGF domains 1
  • Synonyms
    4933426F18Rik, 9430093N24Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2445053
    NCBI Gene: 320924
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:66189926-66424909 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 39.13 cM, cytoband E1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    8208 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2445053
 protein coding gene Chr18:66178373-66435812 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024516
 protein coding gene Chr18:66237088-66514399 (-)
A/J MGP_AJ_G0024483
 protein coding gene Chr18:63346078-63611804 (-)
AKR/J MGP_AKRJ_G0024453
 protein coding gene Chr18:65138874-65416493 (-)
BALB/cJ MGP_BALBcJ_G0024482
 protein coding gene Chr18:63494229-63755378 (-)
C3H/HeJ MGP_C3HHeJ_G0024250
 protein coding gene Chr18:65353899-65628572 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024929
 protein coding gene Chr18:67998908-68275609 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022360
 protein coding gene Chr18:62785573-63045135 (-)
CAST/EiJ MGP_CASTEiJ_G0023723
 protein coding gene Chr18:65357937-65634019 (-)
CBA/J MGP_CBAJ_G0024220
 protein coding gene Chr18:70255646-70561294 (-)
DBA/2J MGP_DBA2J_G0024350
 protein coding gene Chr18:63017433-63276031 (-)
FVB/NJ MGP_FVBNJ_G0024316
 protein coding gene Chr18:62392628-62647419 (-)
LP/J MGP_LPJ_G0024434
 protein coding gene Chr18:66089307-66362513 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024345
 protein coding gene Chr18:71630943-71911873 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024976
 protein coding gene Chr18:65355004-65631512 (-)
PWK/PhJ MGP_PWKPhJ_G0023466
 protein coding gene Chr18:63271586-63541413 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023271
 protein coding gene Chr18:65504492-65795388 (-)
WSB/EiJ MGP_WSBEiJ_G0023787
 protein coding gene Chr18:65217805-65490632 (-)



Homology
more
  • Human Ortholog
    CCBE1, collagen and calcium binding EGF domains 1
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CCBE1, collagen and calcium binding EGF domains 1
  • Synonyms
    HKLLS1
  • Links
    NCBI Gene ID: 147372
    neXtProt AC: NX_Q6UXH8
    UniProt: Q6UXH8

  • Chr Location
    18q21.32; chr18:59430939-59697721 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CCBE1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    31 phenotypes from 4 alleles in 5 genetic backgrounds
    16 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 knock-out allele exhibit prenatal lethality associated with edema and absence of lymphatic vessels.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    28
  • GO References
    8
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
    832
  • Tissues
    48
  • cDNA Data
    13
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 320924 NCBI Gene Model | MGI Sequence Detail 234984 C57BL/6J ±  kb
    transcript NM_178793 RefSeq | MGI Sequence Detail 5742 C57BL/6  
    polypeptide Q3MI99 UniProt | EBI | MGI Sequence Detail 408 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000005096 collagen and calcium-binding EGF domain-containing protein 1
      (term hierarchy)
    • InterPro Domains
      IPR008160 Collagen triple helix repeat
      IPR018097 EGF-like calcium-binding, conserved site
      IPR001881 EGF-like calcium-binding domain
      IPR000742 EGF-like domain
      IPR000152 EGF-type aspartate/asparagine hydroxylation site
      IPR050632 Nematode Cuticular Collagen
    • GlyGen
      Q3MI99 3 sites, 1 N-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 14
      cDNA 13
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1918322
    References
    more
    • Summaries
      All 44
      Developmental Gene Expression 8
      Gene Ontology 8
      Phenotypes 16
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory