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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
  • Neuralin 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 megalocornea 1, x-linked and isolated congenital megalocornea. Among its related pathways are TGF-beta Signaling Pathway (sino) and Signaling by GPCR. An important paralog of this gene is CHRD.

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.

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

Genomics for CHRDL1 Gene

Regulatory Elements for CHRDL1 Gene

Enhancers for CHRDL1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CHRDL1 on UCSC Golden Path with GeneCards custom track

Promoters for CHRDL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHRDL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHRDL1 Gene

Chromosome:
X
Start:
110,673,856 bp from pter
End:
110,796,058 bp from pter
Size:
122,203 bases
Orientation:
Minus strand

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

Proteomics data for CHRDL1 Gene at MOPED

Post-translational modifications for CHRDL1 Gene

  • Glycosylation at Asn 112 and Asn 285
  • Modification sites at PhosphoSitePlus

Other Protein References for CHRDL1 Gene

Antibody Products

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

No data available for DME Specific Peptides for CHRDL1 Gene

Domains & Families for CHRDL1 Gene

Protein Domains for CHRDL1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHRDL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BU40

UniProtKB/Swiss-Prot:

CRDL1_HUMAN :
  • Contains 3 VWFC domains.
Domain:
  • Contains 3 VWFC domains.
genes like me logo Genes that share domains with CHRDL1: view

No data available for Gene Families 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.
genes like me logo Genes that share phenotypes with CHRDL1: view

Human Phenotype Ontology for CHRDL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for CHRDL1

miRNA for CHRDL1 Gene

miRTarBase miRNAs that target CHRDL1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for CHRDL1 Gene COMPARTMENTS Subcellular localization image for CHRDL1 gene
Compartment Confidence
extracellular 5
cytoskeleton 1
golgi apparatus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components 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 Sino Biological pathway 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:0007399 nervous system development IEA --
GO:0030154 cell differentiation IEA --
GO:0030509 BMP signaling pathway TAS --
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:

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 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, PaxDb, and MOPED for CHRDL1 Gene



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.
genes like me logo Genes that share expression patterns with CHRDL1: view

Protein tissue co-expression partners for CHRDL1 Gene

Primer Products

Orthologs for CHRDL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHRDL1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia CHRDL1 35
  • 93.57 (n)
  • 97.15 (a)
CHRDL1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chrdl1 35
  • 89.76 (n)
  • 90.81 (a)
Chrdl1 16
Chrdl1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHRDL1 35
  • 97.35 (n)
  • 96.77 (a)
CHRDL1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrdl1 35
  • 88.77 (n)
  • 88.91 (a)
cow
(Bos Taurus)
Mammalia CHRDL1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHRDL1 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHRDL1 35
  • 76.4 (n)
  • 80.97 (a)
CHRDL1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRDL1 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chrdl1 35
  • 66.4 (n)
  • 68.32 (a)
fruit fly
(Drosophila melanogaster)
Insecta sog 36
  • 4 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 2 (a)
OneToMany
Species with no ortholog for CHRDL1:
  • 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)

Paralogs for CHRDL1 Gene

Paralogs for CHRDL1 Gene

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

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 Sequence Context AA Info Type
VAR_068175 Megalocornea 1, X-linked (MGC1)
rs747670774 -- 110,694,171(+) GTCCA(C/T)GCTTG reference, missense
rs747672867 -- 110,688,709(+) ACATT(A/G)CAAGT reference, synonymous-codon
rs747697791 -- 110,715,135(+) ATCAA(A/G)TATAT intron-variant
rs747705669 -- 110,773,441(+) ATATA(A/T)TGTAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7037 CNV Loss 18451855
esv1358058 CNV Insertion 17803354
esv2666835 CNV Deletion 23128226
esv21564 CNV Loss 19812545
nsv442813 CNV CNV 18776908
nsv515161 CNV Loss 21397061
nsv438151 CNV Loss 16468122
esv2667764 CNV Deletion 23128226
nsv507988 CNV Insertion 20534489

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)

Relevant External Links for CHRDL1 Gene

HapMap Linkage Disequilibrium report
CHRDL1
Human Gene Mutation Database (HGMD)
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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
megalocornea 1, x-linked
  • megalocornea
isolated congenital megalocornea
  • megalocornea
megalocornea
  • anterior megalophthalmos
corneal degeneration
- 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.

Relevant External Links for CHRDL1

Genetic Association Database (GAD)
CHRDL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 T.R. … Hardcastle A.J. (Am. J. Hum. Genet. 2012) 2 3 4 67
  2. Neuralin-1 is a novel Chordin-related molecule expressed in the mouse neural plate. (PMID: 11118896) Coffinier C. … De Robertis E.M. (Mech. Dev. 2001) 2 3 23
  3. Ventroptin: a BMP-4 antagonist expressed in a double-gradient pattern in the retina. (PMID: 11441185) Sakuta H. … Noda M. (Science 2001) 2 3 23
  4. Effect of chordin-like 1 on MC3T3-E1 and human mesenchymal stem cells. (PMID: 20130390) Fernandes H. … de Boer J. (Cells Tissues Organs (Print) 2010) 3 23
  5. Chordin-like 1 and twisted gastrulation 1 regulate BMP signaling following kidney injury. (PMID: 19357253) Larman B.W. … Oxburgh L. (J. Am. Soc. Nephrol. 2009) 3 23

Products for CHRDL1 Gene

Sources for CHRDL1 Gene

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