CHRDL1 | |||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||
Aliases | CHRDL1 , chordin-like 1, CHL, MGC1, MGCN, NRLN1, VOPT, dA141H5.1, chordin like 1 | ||||||||||||||||||||||||
External IDs | OMIM: 300350 MGI: 1933172 HomoloGene: 12834 GeneCards: CHRDL1 | ||||||||||||||||||||||||
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Orthologs | |||||||||||||||||||||||||
Species | Human | Mouse | |||||||||||||||||||||||
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Location (UCSC) | Chr X: 110.67 – 110.8 Mb | Chr X: 142.07 – 142.18 Mb | |||||||||||||||||||||||
PubMed search | [3] | [4] | |||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||
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Chordin-like 1 is a protein that in humans is encoded by the CHRDL1 gene. [5] Chordin-Like 1 (CHRDL1) is a structural glycoprotein that sits on the X chromosome and specifically encodes Venotropin, which is an antagonistic protein to bone morphogenic protein 4. [6]
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. [5]
CHRDL1 plays important roles in processes such as embryonic cell differentiation, osteogenesis, neurogenesis, tumor and metastasis suppression, and retinal formation. [7] [8] The highest expression of this gene is found in the anterior eye segment and retina as well as in the cerebellum and neocortex. [6] In the neocortex, it peaks at the time of synapse maturation to allow for proper synaptic formation. [9] Therefore, this gene is important in proper formation of the central nervous system and the eyes.
Mutations in CHRDL1 are associated to Neuhäuser Syndrome, X-linked megalocornea and central corneal thickness. [10]
Mutations in this gene may cause a variety of effects on the aforementioned processes. One potential outcome of a CHRDL1 mutation is non-syndromic X-linked megalocornea (XMC) that results from either a missense, nonsense, or frameshift mutation of the gene. [6] XMC is an enlargement of the anterior segments of the eye that may lead to other issues such as cataracts and glaucoma. [6] Another potential outcome is carcinogenic formation. Since CHRDL1 is a tumor and metastasis suppressor, a mutation in this gene may lead to tumor cell formation. [8] The most major effect a mutation could have is on synaptic stabilization. Since the gene limits synaptic plasticity, a mutation may cause issues in proper synapse maturation, leading to a variety of neurological disorders. [9] There is currently a knockout model for this gene that shows disruption may cause altered synaptic events and reduced synaptic GluA2 AMPARs leading to reduced plasticity. [9]
Growth/differentiation factor 9 is a protein that in humans is encoded by the GDF9 gene.
Noggin, also known as NOG, is a protein that is involved in the development of many body tissues, including nerve tissue, muscles, and bones. In humans, noggin is encoded by the NOG gene. The amino acid sequence of human noggin is highly homologous to that of rat, mouse, and Xenopus.
Bone morphogenetic protein 7 or BMP7 is a protein that in humans is encoded by the BMP7 gene.
Bone morphogenetic protein 15 (BMP-15) is a protein that in humans is encoded by the BMP15 gene. It is involved in folliculogenesis, the process in which primordial follicles develop into pre-ovulatory follicles.
Bone morphogenetic protein 6 is a protein that in humans is encoded by the BMP6 gene.
Bone morphogenetic protein 5 is a protein that in humans is encoded by the BMP5 gene.
Bone morphogenetic protein 3, also known as osteogenin, is a protein in humans that is encoded by the BMP3 gene.
Mothers against decapentaplegic homolog 1 also known as SMAD family member 1 or SMAD1 is a protein that in humans is encoded by the SMAD1 gene.
Chordin or CHRD is a protein with a prominent role in dorsal–ventral patterning during vertebrate early embryonic development. Chordin is encoded by the chrd gene.
Bone morphogenetic protein receptor type II or BMPR2 is a serine/threonine receptor kinase. It binds Bone morphogenetic proteins, members of the TGF beta superfamily of ligands, which are involved in paracrine signalling. BMPs are involved in a host of cellular functions including osteogenesis, cell growth and cell differentiation. Signaling in the BMP pathway begins with the binding of a BMP to the type II receptor. This causes the recruitment of a BMP type I receptor, which it phosphorylates. The Type I receptor phosphorylates an R-SMAD a transcriptional regulator.
The bone morphogenetic protein receptor, type IA also known as BMPR1A is a protein which in humans is encoded by the BMPR1A gene. BMPR1A has also been designated as CD292.
Activin A receptor, type I (ACVR1) is a protein which in humans is encoded by the ACVR1 gene; also known as ALK-2. ACVR1 has been linked to the 2q23-24 region of the genome. This protein is important in the bone morphogenic protein (BMP) pathway which is responsible for the development and repair of the skeletal system. While knock-out models with this gene are in progress, the ACVR1 gene has been connected to fibrodysplasia ossificans progressiva, a disease characterized by the formation of heterotopic bone throughout the body. It is a bone morphogenetic protein receptor, type 1.
Growth differentiation factor 2 (GDF2) also known as bone morphogenetic protein (BMP)-9 is a protein that in humans is encoded by the GDF2 gene. GDF2 belongs to the transforming growth factor beta superfamily.
Growth differentiation factor 6 (GDF6) is a protein that in humans is encoded by the GDF6 gene.
Transient receptor potential cation channel subfamily M member 1 is a protein that in humans is encoded by the TRPM1 gene.
Zinc finger E-box-binding homeobox 1 is a protein that in humans is encoded by the ZEB1 gene.
Sclerostin domain-containing protein 1 is a protein that in humans is encoded by the SOSTDC1 gene.
Tolloid-like protein 1 is a protein that in humans is encoded by the TLL1 gene.
Repulsive guidance molecule B (RGMb), also known as DRAGON, is a bone morphogenetic protein (BMP) co-receptor of the repulsive guidance molecule family. In humans this protein is encoded by the RGMB gene.
BMP binding endothelial regulator is a protein that in humans is encoded by the BMPER gene.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.