About   Help   FAQ
Ccbe1
Gene Detail
Symbol

Name
ID
Ccbe1
collagen and calcium binding EGF domains 1
MGI:2445053
Synonyms
4933426F18Rik, 9430093N24Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 18
39.13 cM, cytoband E1
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr18:66045302-66302739 bp, - strand
From VEGA annotation of GRCm38

  257438 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:15852  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: CCBE1
Gene Tree: Ccbe1

Human
homologs
CCBE1, collagen and calcium binding EGF domains 1
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 147372
neXtProt AC: NX_Q6UXH8

Human Synonyms: HKLLS1

Human Chr (Location): 18q21.32; chr18:59430939-59697643 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human CCBE1

Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for a knock-out allele exhibit prenatal lethality associated with edema and absence of lymphatic vessels.
 
Interactions
Ccbe1 interacts with 361 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process angiogenesis, lymphangiogenesis, ...
Component collagen trimer, extracellular region, ...
Function calcium ion binding, collagen binding, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (104)    Tissues (38)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 4
RNA in situ 100
cDNA source data(12)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN ccbe1    NEW 
Molecular
reagents
All nucleic(13) cDNA(12) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000028218 (Evidence)
Ensembl Gene Model ENSMUSG00000046318 (Evidence)
Entrez Gene 320924 (Evidence)
UniGene 442049
DFCI TC1594494, TC1587060, TC1693025, TC1659528, TC1593703
NIA Mouse Gene Index U038507
Consensus CDS Project CCDS29314.1
International Mouse Phenotyping Consortium Status Ccbe1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000028218 VEGA Gene Model | MGI Sequence Detail 257438 C57BL/6J ±  kb
transcript OTTMUST00000069908 VEGA | MGI Sequence Detail 1631 Not Applicable 
polypeptide OTTMUSP00000035567 VEGA | MGI Sequence Detail 408 Not Applicable 

For the selected sequences
All sequences(42) RefSeq(4) UniProt(3)
Polymorphisms
SNPs within 2kb(2529 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008160 Collagen triple helix repeat
InterPro IPR026823 Complement Clr-like EGF domain
InterPro IPR001881 EGF-like calcium-binding
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR013032 EGF-like, conserved site
InterPro IPR000152 EGF-type aspartate/asparagine hydroxylation site
InterPro IPR000742 Epidermal growth factor-like domain
Protein Ontology PR:000005096 collagen and calcium-binding EGF domain-containing protein 1
References
(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:213127 Jakus Z, et al., Lymphatic function is required prenatally for lung inflation at birth. J Exp Med. 2014 May 5;211(5):815-26
All references(30)
Other
accession IDs
MGI:1918322

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/30/2015
MGI 5.22
The Jackson Laboratory