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Aliases for CHRDL1 Gene

Aliases for CHRDL1 Gene

  • Chordin-Like 1 2 3
  • Neurogenesin-1 3 4
  • Neuralin-1 3 4
  • Ventroptin 3 4
  • NRLN1 3 4
  • VOPT 3 6
  • MGC1 3 6
  • Megalocornea 1 (X-Linked) 2
  • Chordin-Like Protein 1 3
  • Neuralin 1 3
  • DA141H5.1 3
  • MGCN 3
  • CHL 3

External Ids for CHRDL1 Gene

Previous Symbols for CHRDL1 Gene

  • MGC1

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 lymphocyte-rich classical hodgkin lymphoma. Among its related pathways are Signaling by GPCR and TGF-beta Signaling Pathway (sino). 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

Genomic Location for CHRDL1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHRDL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHRDL1 Gene

Regulatory Elements 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 Asn112 and Asn285

Other Protein References for CHRDL1 Gene

No data available for DME Specific Peptides for CHRDL1 Gene

Domains for CHRDL1 Gene

Protein Domains for CHRDL1 Gene

UniProtKB/Swiss-Prot:

CRDL1_HUMAN
Domain:
  • Contains 3 VWFC domains.:
    • Q9BU40
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.

Gene Ontology (GO) - Molecular Function for CHRDL1 Gene

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

Phenotypes for CHRDL1 Gene

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

miRNA for CHRDL1 Gene

miRTarBase miRNAs that target CHRDL1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 4
cytoskeleton 1
cytosol 1
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CHRDL1 Gene

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

Pathways 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:0001654 eye development IMP 22284829
GO:0007399 nervous system development --
GO:0030154 cell differentiation --
GO:0030182 neuron differentiation IEA --
genes like me logo Genes that share ontologies with CHRDL1: view

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 (4.3).

Integrated Proteomics: protein expression 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 expressions 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 36
  • 97.35 (n)
  • 96.77 (a)
CHRDL1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHRDL1 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHRDL1 36
  • 93.57 (n)
  • 97.15 (a)
CHRDL1 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chrdl1 36
  • 89.76 (n)
  • 90.81 (a)
Chrdl1 16
Chrdl1 37
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHRDL1 37
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chrdl1 36
  • 88.77 (n)
  • 88.91 (a)
chicken
(Gallus gallus)
Aves CHRDL1 36
  • 76.4 (n)
  • 80.97 (a)
CHRDL1 37
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHRDL1 37
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chrdl1 36
  • 66.4 (n)
  • 68.32 (a)
fruit fly
(Drosophila melanogaster)
Insecta sog 37
  • 4 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs10526 -- 110,674,445(-) GGGGA(A/G)GGTGT utr-variant-3-prime
rs169067 -- 110,725,602(-) GGGAA(A/G)AGAGC intron-variant
rs185526 -- 110,723,395(-) catag(A/C)taggg intron-variant
rs185527 -- 110,749,530(-) ACACA(C/G)AGACT intron-variant
rs185528 -- 110,763,869(+) aacat(A/C)tactg 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

Relevant External Links for CHRDL1 Gene

HapMap Linkage Disequilibrium report
CHRDL1
Human Gene Mutation Database (HGMD)
CHRDL1
Locus Specific Mutation Databases (LSDB)
CHRDL1

Disorders for CHRDL1 Gene

(1) OMIM Diseases for CHRDL1 Gene (300350)

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.

(1) University of Copenhagen DISEASES for CHRDL1 Gene

(6) Novoseek inferred disease relationships for CHRDL1 Gene

Disease -log(P) Hits PubMed IDs
hodgkin disease 85.7 16
lymphoma b-cell 61.4 1
lymphoma 47.7 6
sclerosis 42.8 3
tumors 11.5 1

Relevant External Links for CHRDL1

Genetic Association Database (GAD)
CHRDL1
genes like me logo Genes that share disorders with CHRDL1: view

Publications for CHRDL1 Gene

  1. 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
  2. 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
  3. 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. (Mol. Vis. 2008) 3 4 23
  4. 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
  5. A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. (PMID: 21378988) (Nat. Genet. 2011) 3 49

Products for CHRDL1 Gene

Sources for CHRDL1 Gene

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