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Aliases for CHRDL1 Gene

Aliases for CHRDL1 Gene

  • Chordin Like 1 2 3 5
  • Neurogenesin-1 3 4
  • Neuralin-1 3 4
  • Ventroptin 3 4
  • NRLN1 3 4
  • Megalocornea 1 (X-Linked) 2
  • Chordin-Like Protein 1 3
  • DA141H5.1 3
  • MGCN 3
  • VOPT 3
  • MGC1 3
  • CHL 3

External Ids for CHRDL1 Gene

Previous HGNC Symbols for CHRDL1 Gene

  • MGC1

Previous GeneCards Identifiers for CHRDL1 Gene

  • GC0XM108682
  • GC0XM109724
  • GC0XM109917
  • GC0XM099536

Summaries for CHRDL1 Gene

Entrez Gene Summary for CHRDL1 Gene

  • This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009]

GeneCards Summary for CHRDL1 Gene

CHRDL1 (Chordin Like 1) is a Protein Coding gene. Diseases associated with CHRDL1 include Isolated Congenital Megalocornea and Megalocornea. Among its related pathways are Signaling by BMP and Signaling by GPCR. An important paralog of this gene is CHRDL2.

UniProtKB/Swiss-Prot for CHRDL1 Gene

  • Antagonizes the function of BMP4 by binding to it and preventing its interaction with receptors. Alters the fate commitment of neural stem cells from gliogenesis to neurogenesis. Contributes to neuronal differentiation of neural stem cells in the brain by preventing the adoption of a glial fate. May play a crucial role in dorsoventral axis formation. May play a role in embryonic bone formation (By similarity). May also play an important role in regulating retinal angiogenesis through modulation of BMP4 actions in endothelial cells. Plays a role during anterior segment eye development.

Additional gene information for CHRDL1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHRDL1 Gene

Genomics for CHRDL1 Gene

GeneHancer (GH) Regulatory Elements for CHRDL1 Gene

Promoters and enhancers for CHRDL1 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
GH0XJ110795 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 650.7 +0.1 107 0.7 ZFHX2 ZBTB26 CHRDL1 GC0XP110658
GH0XJ110667 Enhancer 0.5 ENCODE 18.2 +128.1 128066 1.3 SP1 USF1 MAX SIN3A CHRDL1 GC0XP110658
GH0XJ110509 Enhancer 0.4 ENCODE 15.1 +286.3 286291 1.3 SP1 NANOG CHRDL1 TDGF1P3 AMMECR1
GH0XJ110531 Enhancer 0.2 ENCODE 17.8 +263.9 263909 1.7 RTL9 CHRDL1 TDGF1P3 LOC100131200
GH0XJ110744 Enhancer 0.4 ENCODE 6.6 +52.0 51970 0.2 ZFHX2 RUNX3 EGR2 CHRDL1 GC0XP110658
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CHRDL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHRDL1 gene promoter:

Genomic Locations for CHRDL1 Gene

Genomic Locations for CHRDL1 Gene
chrX:110,673,856-110,796,058
(GRCh38/hg38)
Size:
122,203 bases
Orientation:
Minus strand
chrX:109,917,084-110,039,286
(GRCh37/hg19)

Genomic View for CHRDL1 Gene

Genes around CHRDL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHRDL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHRDL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRDL1 Gene

Proteins for CHRDL1 Gene

  • Protein details for CHRDL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BU40-CRDL1_HUMAN
    Recommended name:
    Chordin-like protein 1
    Protein Accession:
    Q9BU40
    Secondary Accessions:
    • B1AKD0
    • B4DMP3
    • D3DUY6
    • E9PGS5
    • Q539E4
    • Q9Y3H7

    Protein attributes for CHRDL1 Gene

    Size:
    450 amino acids
    Molecular mass:
    51168 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH02909.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAU25841.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAF85795.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for CHRDL1 Gene

neXtProt entry for CHRDL1 Gene

Post-translational modifications for CHRDL1 Gene

  • Glycosylation at posLast=285285 and posLast=112112
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for CHRDL1 (Chordin-like 1/CHRDL1)
  • Boster Bio Antibodies for CHRDL1

No data available for DME Specific Peptides for CHRDL1 Gene

Domains & Families for CHRDL1 Gene

Gene Families for CHRDL1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for CHRDL1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHRDL1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CHRDL1: view

No data available for UniProtKB/Swiss-Prot for CHRDL1 Gene

Function for CHRDL1 Gene

Molecular function for CHRDL1 Gene

UniProtKB/Swiss-Prot Function:
Antagonizes the function of BMP4 by binding to it and preventing its interaction with receptors. Alters the fate commitment of neural stem cells from gliogenesis to neurogenesis. Contributes to neuronal differentiation of neural stem cells in the brain by preventing the adoption of a glial fate. May play a crucial role in dorsoventral axis formation. May play a role in embryonic bone formation (By similarity). May also play an important role in regulating retinal angiogenesis through modulation of BMP4 actions in endothelial cells. Plays a role during anterior segment eye development.
UniProtKB/Swiss-Prot Induction:
By hypoxia in retinal pericytes.

Phenotypes From GWAS Catalog for CHRDL1 Gene

Gene Ontology (GO) - Molecular Function for CHRDL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with CHRDL1: view
genes like me logo Genes that share phenotypes with CHRDL1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CHRDL1

CRISPR Products

miRNA for CHRDL1 Gene

miRTarBase miRNAs that target CHRDL1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRDL1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CHRDL1 Gene

Localization for CHRDL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHRDL1 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 CHRDL1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
cytoskeleton 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CHRDL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with CHRDL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CHRDL1 Gene

Pathways & Interactions for CHRDL1 Gene

genes like me logo Genes that share pathways with CHRDL1: view

Pathways by source for CHRDL1 Gene

1 BioSystems pathway for CHRDL1 Gene
2 Reactome pathways for CHRDL1 Gene

Gene Ontology (GO) - Biological Process for CHRDL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0001654 eye development IMP 22284829
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with CHRDL1: view

No data available for SIGNOR curated interactions for CHRDL1 Gene

Drugs & Compounds for CHRDL1 Gene

No Compound Related Data Available

Transcripts for CHRDL1 Gene

Unigene Clusters for CHRDL1 Gene

Chordin-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHRDL1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHRDL1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b
SP1: -
SP2: -
SP3: -
SP4:

Relevant External Links for CHRDL1 Gene

GeneLoc Exon Structure for
CHRDL1
ECgene alternative splicing isoforms for
CHRDL1

Expression for CHRDL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHRDL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHRDL1 Gene

This gene is overexpressed in Adipose - Subcutaneous (x4.3).

Protein differential expression in normal tissues from HIPED for CHRDL1 Gene

This gene is overexpressed in Vitreous humor (40.0) and Testis (16.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CHRDL1 Gene



Protein tissue co-expression partners for CHRDL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CHRDL1 Gene:

CHRDL1

SOURCE GeneReport for Unigene cluster for CHRDL1 Gene:

Hs.496587

mRNA Expression by UniProt/SwissProt for CHRDL1 Gene:

Q9BU40-CRDL1_HUMAN
Tissue specificity: Expressed in the developing cornea and in the eye anterior segment in addition to the retina. Differentially expressed in the fetal brain. There is high expression in cerebellum and neocortex. Expressed in retinal pericytes.

Evidence on tissue expression from TISSUES for CHRDL1 Gene

  • Nervous system(4.6)
  • Lung(4.4)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHRDL1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • eye
  • eyelid
  • head
genes like me logo Genes that share expression patterns with CHRDL1: view

Orthologs for CHRDL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRDL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHRDL1 34 33
  • 97.35 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CHRDL1 34 33
  • 93.57 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CHRDL1 34
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chrdl1 16 34 33
  • 89.76 (n)
rat
(Rattus norvegicus)
Mammalia Chrdl1 33
  • 88.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CHRDL1 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHRDL1 34 33
  • 76.4 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRDL1 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chrdl1 33
  • 66.4 (n)
fruit fly
(Drosophila melanogaster)
Insecta sog 34
  • 4 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 2 (a)
OneToMany
Species where no ortholog for CHRDL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CHRDL1 Gene

ENSEMBL:
Gene Tree for CHRDL1 (if available)
TreeFam:
Gene Tree for CHRDL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHRDL1: view image

Paralogs for CHRDL1 Gene

Paralogs for CHRDL1 Gene

(3) SIMAP similar genes for CHRDL1 Gene using alignment to 2 proteins:

  • CRDL1_HUMAN
  • D3YTA8_HUMAN
genes like me logo Genes that share paralogs with CHRDL1: view

Variants for CHRDL1 Gene

Sequence variations from dbSNP and Humsavar for CHRDL1 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1057516043 pathogenic, Megalocornea 110,719,856(-) AA/AAA coding_sequence_variant, frameshift, intron_variant
rs387906713 pathogenic, Megalocornea, Megalocornea 1, X-linked (MGC1) [MIM:309300] 110,688,800(-) C/A coding_sequence_variant, missense_variant
rs387906714 pathogenic, Megalocornea 110,694,289(-) G/A coding_sequence_variant, stop_gained
rs398122851 pathogenic, Megalocornea 110,688,710(-) C/ coding_sequence_variant, frameshift
rs398122852 pathogenic, Megalocornea 110,762,799(-) TCTCT/TCT coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for CHRDL1 Gene

Variant ID Type Subtype PubMed ID
esv1358058 CNV insertion 17803354
esv21564 CNV loss 19812545
esv2666835 CNV deletion 23128226
esv2667764 CNV deletion 23128226
esv3361732 OTHER inversion 20981092
nsv438151 CNV loss 16468122
nsv442813 CNV loss 18776908
nsv507988 OTHER sequence alteration 20534489
nsv515161 CNV loss 21397061
nsv7037 CNV deletion 18451855

Variation tolerance for CHRDL1 Gene

Residual Variation Intolerance Score: 69.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.73; 46.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHRDL1 Gene

Human Gene Mutation Database (HGMD)
CHRDL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHRDL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHRDL1 Gene

Disorders for CHRDL1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CHRDL1 Gene - From: HGMD, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
isolated congenital megalocornea
  • megalocornea
megalocornea
  • anterior megalophthalmos
corneal degeneration
hypoascorbemia
  • scurvy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CRDL1_HUMAN
  • Megalocornea 1, X-linked (MGC1) [MIM:309300]: An eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as anterior megalophthalmos, since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation. {ECO:0000269 PubMed:22284829}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CHRDL1

genes like me logo Genes that share disorders with CHRDL1: view

No data available for Genatlas for CHRDL1 Gene

Publications for CHRDL1 Gene

  1. X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. (PMID: 22284829) Webb TR … Hardcastle AJ (American journal of human genetics 2012) 2 3 4 58
  2. Chordin-like 1, a bone morphogenetic protein-4 antagonist, is upregulated by hypoxia in human retinal pericytes and plays a role in regulating angiogenesis. (PMID: 18587495) Kane R … O'Brien C (Molecular vision 2008) 3 4 22 58
  3. Neuralin-1 is a novel Chordin-related molecule expressed in the mouse neural plate. (PMID: 11118896) Coffinier C … De Robertis EM (Mechanisms of development 2001) 2 3 22 58
  4. Ventroptin: a BMP-4 antagonist expressed in a double-gradient pattern in the retina. (PMID: 11441185) Sakuta H … Noda M (Science (New York, N.Y.) 2001) 2 3 22 58
  5. A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. (PMID: 21378988) Coronary Artery Disease (C4D) Genetics Consortium (Nature genetics 2011) 3 44 58

Products for CHRDL1 Gene

Sources for CHRDL1 Gene

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