CHRDL1
Chordin-like protein 1
Also known as: CHL, CRDL1_HUMAN, MGC1, NRLN1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BU40
- Gene
- CHRDL1
- Ensembl
- ENSG00000101938
- Chromosome
- X
- Canonical length
- 456 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted secreted proteins
- Secretome location
- Secreted in other tissues
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
456 residues, UniProt reviewed canonical sequence.
>Q9BU40|CHRDL1
1 MRKKWKMGGM KYIFSLLFFL LLEGGKTEQV KHSETYCMFQ DKKYRVGERW HPYLEPYGLV
61 YCVNCICSEN GNVLCSRVRC PNVHCLSPVH IPHLCCPRCP DSLPPVNNKV TSKSCEYNGT
121 TYQHGELFVA EGLFQNRQPN QCTQCSCSEG NVYCGLKTCP KLTCAFPVSV PDSCCRVCRG
181 DGELSWEHSD GDIFRQPANR EARHSYHRSH YDPPPSRQAG GLSRFPGARS HRGALMDSQQ
241 ASGTIVQIVI NNKHKHGQVC VSNGKTYSHG ESWHPNLRAF GIVECVLCTC NVTKQECKKI
301 HCPNRYPCKY PQKIDGKCCK VCPGKKAKEL PGQSFDNKGY FCGEETMPVY ESVFMEDGET
361 TRKIALETER PPQVEVHVWT IRKGILQHFH IEKISKRMFE ELPHFKLVTR TTLSQWKIFT
421 EGEAQISQMC SSRVCRTELE DLVKVLYLER SEKGHCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CHRDL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.46
- Highest tissue expression
- 211 nTPM
Expression across tissuesHPA
Tissue
- seminal vesicle: 211 nTPM
- adipose tissue: 177 nTPM
- prostate: 133 nTPM
- endometrium: 108 nTPM
- smooth muscle: 95 nTPM
- parathyroid gland: 80 nTPM
Single-cell type
- müller glia: 115 nCPM
- lymphatic endothelial cells: 110 nCPM
- adipocytes: 90 nCPM
- fibroblasts: 79 nCPM
- pituitary stem cells: 78 nCPM
- fibro-adipogenic progenitors: 60 nCPM
Immune cell
- plasmacytoid DC: 0.4 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- basal ganglia: 26 nTPM
- cerebral cortex: 22 nTPM
- cerebellum: 13 nTPM
- amygdala: 11 nTPM
- hippocampal formation: 10 nTPM
- choroid plexus: 9.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CHRDL1.
Disease | AllUniProt
Conditions CHRDL1 is implicated in, by any mechanism.
- Megalocornea 1, X-linked (MGC1) MIM:309300
Disease | GeneticClinVar
22 pathogenic / likely-pathogenic of 166 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Megalocornea
- Isolated congenital megalocornea
- Corneal disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.52
- gnomAD pLI
- 0.22
- gnomAD missense Z
- 0.45
- DepMap mean gene effect
- 0.15
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- AMPA glutamate receptor clustering
- BMP signaling pathway
- cell differentiation
- embryonic axis specification
- excitatory chemical synaptic transmission
- eye development
- negative regulation of BMP signaling pathway
- ossification
- regulation of synaptic plasticity
- synapse maturation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CHRDL1 as an antibody target. Whether an autoantibody or antibody against CHRDL1 could matter depends on whether native CHRDL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CHRDL1 is annotated as secreted, so native CHRDL1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label CHRDL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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