This gene encodes a cytokine member of the cysteine knot superfamily, characterized by nine conserved cysteines and a cysteine knot region. The cerberus-related cytokines, together with Dan and DRM/Gremlin, represent a group of bone morphogenetic protein (BMP) antagonists that can bind directly to BMPs and inhibit their activity. [provided by RefSeq, Jul 2008] See more...

Aliases for CER1 Gene

Aliases for CER1 Gene

  • Cerberus 1, DAN Family BMP Antagonist 2 3 5
  • DAND4 2 3 4
  • DAN Domain Family Member 4 3 4
  • Cerberus-Related Protein 3 4
  • Cerberus 3 4
  • Cerberus 1 (Xenopus Laevis) Homolog (Cysteine Knot Superfamily) 2
  • Cerberus 1, Cysteine Knot Superfamily, Homolog (Xenopus Laevis) 2
  • Cerberus 1, Cysteine Knot Superfamily, Homolog 3
  • Cerberus-Related 1 3
  • CER1 5

External Ids for CER1 Gene

Previous GeneCards Identifiers for CER1 Gene

  • GC09M014885
  • GC09M014701

Summaries for CER1 Gene

Entrez Gene Summary for CER1 Gene

  • This gene encodes a cytokine member of the cysteine knot superfamily, characterized by nine conserved cysteines and a cysteine knot region. The cerberus-related cytokines, together with Dan and DRM/Gremlin, represent a group of bone morphogenetic protein (BMP) antagonists that can bind directly to BMPs and inhibit their activity. [provided by RefSeq, Jul 2008]

GeneCards Summary for CER1 Gene

CER1 (Cerberus 1, DAN Family BMP Antagonist) is a Protein Coding gene. Diseases associated with CER1 include Central Corneal Ulcer and Norrie Disease. Among its related pathways are Signaling by NODAL and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and BMP binding. An important paralog of this gene is DAND5.

UniProtKB/Swiss-Prot Summary for CER1 Gene

  • Cytokine that may play a role in anterior neural induction and somite formation during embryogenesis in part through a BMP-inhibitory mechanism. Can regulate Nodal signaling during gastrulation as well as the formation and patterning of the primitive streak (By similarity).

Gene Wiki entry for CER1 Gene

Additional gene information for CER1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CER1 Gene

Genomics for CER1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CER1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J014722 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 610.5 +1.4 1400 1.1 TEAD4 ZIC2 EZH2 JUN GLIS1 SMARCA4 NANOG SP1 POU5F1 JUND CER1 piR-31534-685 ZDHHC21
GH09J014529 Promoter/Enhancer 1.4 EPDnew Ensembl CraniofacialAtlas 9.9 +193.6 193605 4.2 ZNF512 PKNOX1 REST HDAC1 SOX6 FOXJ2 EP300 SCRT2 CEBPB MGA ENSG00000237137 NFIB CER1 piR-31937-249
GH09J014745 Enhancer 0.5 Ensembl ENCODE 19.6 -22.3 -22343 2.5 ZBTB40 JUN CER1 ZDHHC21 ENSG00000272871 piR-42491-227 FREM1
GH09J014749 Enhancer 0.5 Ensembl ENCODE 17.1 -26.9 -26892 4 RBM22 NR2F2 CER1 ZDHHC21 piR-42491-227 FREM1
GH09J014729 Enhancer 0.3 ENCODE 9.1 -6.4 -6419 1.7 MNT RBM22 ZDHHC21 CER1 ENSG00000272871 piR-42491-227 FREM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CER1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CER1

Top Transcription factor binding sites by QIAGEN in the CER1 gene promoter:
  • AREB6
  • E47
  • FOXL1
  • Gfi-1
  • HNF-3beta
  • NF-1
  • NF-1/L
  • Tal-1

Genomic Locations for CER1 Gene

Genomic Locations for CER1 Gene
chr9:14,715,082-14,724,308
(GRCh38/hg38)
Size:
9,227 bases
Orientation:
Minus strand
chr9:14,719,722-14,722,715
(GRCh37/hg19)
Size:
2,994 bases
Orientation:
Minus strand

Genomic View for CER1 Gene

Genes around CER1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CER1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CER1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CER1 Gene

Proteins for CER1 Gene

  • Protein details for CER1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95813-CER1_HUMAN
    Recommended name:
    Cerberus
    Protein Accession:
    O95813
    Secondary Accessions:
    • Q6ISJ1
    • Q6ISJ6
    • Q6ISQ2
    • Q6ISS1

    Protein attributes for CER1 Gene

    Size:
    267 amino acids
    Molecular mass:
    30084 Da
    Quaternary structure:
    • Forms monomers and predominantly dimers.
    SequenceCaution:
    • Sequence=AAH69503.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};

neXtProt entry for CER1 Gene

Post-translational modifications for CER1 Gene

Other Protein References for CER1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CER1 Gene

Domains & Families for CER1 Gene

Gene Families for CER1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for CER1 Gene

Suggested Antigen Peptide Sequences for CER1 Gene

GenScript: Design optimal peptide antigens:
  • DAN domain family member 4 (CER1_HUMAN)
  • Cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (Q3SY34_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95813

UniProtKB/Swiss-Prot:

CER1_HUMAN :
  • Belongs to the DAN family.
Family:
  • Belongs to the DAN family.
genes like me logo Genes that share domains with CER1: view

Function for CER1 Gene

Molecular function for CER1 Gene

UniProtKB/Swiss-Prot Function:
Cytokine that may play a role in anterior neural induction and somite formation during embryogenesis in part through a BMP-inhibitory mechanism. Can regulate Nodal signaling during gastrulation as well as the formation and patterning of the primitive streak (By similarity).
GENATLAS Biochemistry:
cerberus related cytokine 1,potentially involved in anterior neural induction and somite formation during mouse development,bone morphogenetic protein antagonist

LifeMap Function Summary for CER1 Gene

During embryonic development, CER1 as signaling molecule is secreted from the following cells
It affects the following cells:

Phenotypes From GWAS Catalog for CER1 Gene

Gene Ontology (GO) - Molecular Function for CER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IEA --
GO:0016015 morphogen activity IBA,IDA 9660951
GO:0036122 BMP binding IDA 9660951
GO:0042803 protein homodimerization activity IEA,ISS --
genes like me logo Genes that share ontologies with CER1: view
genes like me logo Genes that share phenotypes with CER1: view

Animal Models for CER1 Gene

MGI Knock Outs for CER1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CER1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CER1 Gene

Localization for CER1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CER1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CER1 gene
Compartment Confidence
extracellular 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region ISS,TAS --
GO:0005615 extracellular space IBA,ISS --
genes like me logo Genes that share ontologies with CER1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CER1 Gene

Pathways & Interactions for CER1 Gene

PathCards logo

SuperPathways for CER1 Gene

SuperPathway Contained pathways
1 PEDF Induced Signaling
.94
.94
.73
.71
.62
.61
.47
.46
2 ERK Signaling
.61
.61
.51
3 Akt Signaling
.60
.60
4 PAK Pathway
.56
.56
5 Signaling by NODAL
genes like me logo Genes that share pathways with CER1: view

Pathways by source for CER1 Gene

17 Qiagen pathways for CER1 Gene
  • Akt Signaling
  • all-trans-Retinoic Acid Signaling in Brain
  • Antioxidant Action of Vitamin-C
  • Endothelin-1 Signaling Pathway
  • ERK Signaling
1 GeneTex pathway for CER1 Gene

Gene Ontology (GO) - Biological Process for CER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001657 ureteric bud development IEA,ISS --
GO:0003419 growth plate cartilage chondrocyte proliferation ISS 19113921
GO:0007369 gastrulation ISS 10049596
GO:0007399 nervous system development IMP 9660951
GO:0008285 negative regulation of cell proliferation IEA,ISS 10049596
genes like me logo Genes that share ontologies with CER1: view

No data available for SIGNOR curated interactions for CER1 Gene

Drugs & Compounds for CER1 Gene

(1) Drugs for CER1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with CER1: view

Transcripts for CER1 Gene

mRNA/cDNA for CER1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CER1

Alternative Splicing Database (ASD) splice patterns (SP) for CER1 Gene

No ASD Table

Relevant External Links for CER1 Gene

GeneLoc Exon Structure for
CER1

Expression for CER1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CER1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CER1 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x5.9), Brain - Cerebellar Hemisphere (x5.4), and Brain - Cerebellum (x4.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CER1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CER1

SOURCE GeneReport for Unigene cluster for CER1 Gene:

Hs.248204

Evidence on tissue expression from TISSUES for CER1 Gene

  • Blood(4.4)
  • Skin(2)
genes like me logo Genes that share expression patterns with CER1: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CER1 Gene

Orthologs for CER1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CER1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CER1 30 31
  • 99.13 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CER1 30 31
  • 85.27 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CER1 30 31
  • 81.27 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cer1 30
  • 76.55 (n)
Mouse
(Mus musculus)
Mammalia Cer1 30 17 31
  • 75.91 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CER1 31
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CER1 30 31
  • 62.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CER1 31
  • 37 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii dand5 31
  • 20 (a)
OneToMany
Species where no ortholog for CER1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CER1 Gene

ENSEMBL:
Gene Tree for CER1 (if available)
TreeFam:
Gene Tree for CER1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CER1: view image

Paralogs for CER1 Gene

Paralogs for CER1 Gene

genes like me logo Genes that share paralogs with CER1: view

Variants for CER1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CER1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs10115703 - p.Arg19Trp
rs3747532 - p.Ala65Gly
rs7036635 - p.Val179Ile

Additional dbSNP identifiers (rs#s) for CER1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CER1 Gene

Variant ID Type Subtype PubMed ID
nsv613637 CNV gain 21841781
nsv6483 CNV insertion 18451855
nsv831517 CNV loss 17160897

Variation tolerance for CER1 Gene

Residual Variation Intolerance Score: 21.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.39; 63.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CER1 Gene

Human Gene Mutation Database (HGMD)
CER1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CER1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CER1 Gene

Disorders for CER1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for CER1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
central corneal ulcer
norrie disease
  • nd
accommodative spasm
  • spasm of accommodation
chromosome 9p deletion syndrome
  • monosomy 9p syndrome
cycloplegia
  • ciliary muscle paresis
- elite association - COSMIC cancer census association via MalaCards
Search CER1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CER1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CER1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CER1 Gene

Publications for CER1 Gene

  1. Human cerberus related gene CER1 maps to chromosome 9. (PMID: 10049596) Lah M … Harvey RP (Genomics 1999) 2 3 4 23
  2. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 41
  3. A gene-based risk score for lung cancer susceptibility in smokers and ex-smokers. (PMID: 19789190) Young RP … Gamble GD (Postgraduate medical journal 2009) 3 41
  4. Lung cancer susceptibility model based on age, family history and genetic variants. (PMID: 19390575) Young RP … Gamble GD (PloS one 2009) 3 41
  5. Genome-wide haplotype association mapping in mice identifies a genetic variant in CER1 associated with BMD and fracture in southern Chinese women. (PMID: 19113921) Tang PL … Song YQ (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 41

Products for CER1 Gene

Sources for CER1 Gene