CCBE1
Sign in to saveAlso known as HKLLS1, collagen and calcium binding EGF domains 1
Collagen and calcium-binding EGF domain-containing protein 1 is a protein that in humans is encoded by the CCBE1 gene.
In the Vinony graph
Within Vinony's link graph, CCBE1 is referenced by 5 other articles, and connects out to PubMed, human chromosome 18 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 18.
Its subject is documented across 6 Wikipedia language editions.
Gene data
CCBE1- Name
- collagen and calcium binding EGF domains 1
- Type
- protein-coding
- Position
- 59,430,939–59,698,154 (−)
- Aliases
- HKLLS1
- Ensembl
- ENSG00000183287
- RefSeq RNA
- NM_133459.4, XM_017025557.2, XM_017025558.2, XM_024451091.2, XM_047437301.1
- RefSeq protein
- NP_597716.1, XP_016881046.1, XP_016881047.1, XP_024306859.1, XP_047293257.1
This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010].
Gene Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
collagen and calcium binding EGF domains 1
- Symbol
- CCBE1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 18:59,430,939-59,698,154
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 15852
- genomic start
- 59430939
- genomic end
- 59697662
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/147372
- chromosome
- human chromosome 18
- cytogenetic location
- 18q21.32
Sources (4)
via Wikidata · CC0
~1 min read
Encyclopedic overview
5 sectionsContents
- Function
- Clinical significance
- References
- External links
- Further reading
Collagen and calcium-binding EGF domain-containing protein 1 is a protein that in humans is encoded by the CCBE1 gene.
== Function ==
Excerpted from Wikipedia’s “CCBE1” article, available under the CC BY-SA 4.0 licence.