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CHRDL1 chordin like 1 [ Homo sapiens (human) ]

Gene ID: 91851, updated on 12-Oct-2019

Summary

Official Symbol
CHRDL1provided by HGNC
Official Full Name
chordin like 1provided by HGNC
Primary source
HGNC:HGNC:29861
See related
Ensembl:ENSG00000101938 MIM:300350
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CHL; MGC1; MGCN; VOPT; NRLN1; dA141H5.1
Summary
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]
Expression
Broad expression in fat (RPKM 100.2), prostate (RPKM 57.9) and 15 other tissues See more
Orthologs

Genomic context

See CHRDL1 in Genome Data Viewer
Location:
Xq23
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (110673856..110795817, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (109917084..110039286, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene teratocarcinoma-derived growth factor 1 pseudogene 3 Neighboring gene mannose-6-phosphate receptor, cation dependent pseudogene Neighboring gene p21 (RAC1) activated kinase 3 Neighboring gene FCF1 pseudogene 4 Neighboring gene glutamate dehydrogenase 1 pseudogene 9

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Megalocornea
MedGen: C0344530 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2016-12-08)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2016-12-08)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
NHGRI GWA Catalog

Pathways from BioSystems

  • BMP receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
    BMP receptor signaling, organism-specific biosystem
    BMP receptor signaling
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by BMP, organism-specific biosystem (from REACTOME)
    Signaling by BMP, organism-specific biosystemBone morphogenetic proteins (BMPs) have many biological activities in various tissues, including bone, cartilage, blood vessels, heart, kidney, neurons, liver and lung. They are members of the Transf...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
BMP signaling pathway TAS
Traceable Author Statement
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
compound eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
 
nervous system development IEA
Inferred from Electronic Annotation
more info
 
ossification IEA
Inferred from Electronic Annotation
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
chordin-like protein 1
Names
neuralin-1
neurogenesin-1
ventroptin

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012816.1 RefSeqGene

    Range
    5242..127203
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001143981.2NP_001137453.1  chordin-like protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001137453.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1 and 5 both encode the same isoform (1).
    Source sequence(s)
    AK293106, AL049176, AL591489
    Consensus CDS
    CCDS48149.1
    UniProtKB/Swiss-Prot
    Q9BU40
    Related
    ENSP00000361112.1, ENST00000372042.6
    Conserved Domains (1) summary
    cl17735
    Location:116179
    VWC; von Willebrand factor type C domain
  2. NM_001143982.2NP_001137454.1  chordin-like protein 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001137454.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the identical N- and C-termini compared to isoform 1.
    Source sequence(s)
    AK312270, AL049176, BC002909
    Consensus CDS
    CCDS48150.1
    UniProtKB/Swiss-Prot
    Q9BU40
    Related
    ENSP00000399739.2, ENST00000444321.2
    Conserved Domains (1) summary
    cl17735
    Location:115178
    VWC; von Willebrand factor type C domain
  3. NM_001143983.3NP_001137455.2  chordin-like protein 1 isoform 4 precursor

    See identical proteins and their annotated locations for NP_001137455.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate exons, resulting in the loss of an in-frame segment in the central coding region, compared to variant 1. The resulting protein (isoform 4) is shorter but has the identical N- and C-termini compared to isoform 1.
    Source sequence(s)
    AA057564, AK297563, AL049176
    Consensus CDS
    CCDS48148.2
    UniProtKB/Swiss-Prot
    Q9BU40
    Related
    ENSP00000418443.1, ENST00000482160.5
    Conserved Domains (1) summary
    cl17735
    Location:181243
    VWC; von Willebrand factor type C domain
  4. NM_001367204.1NP_001354133.1  chordin-like protein 1 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variant 1, encodes isoform 1.
    Source sequence(s)
    AL049176, AL591489
    Conserved Domains (1) summary
    cl17735
    Location:116179
    VWC; von Willebrand factor type C domain
  5. NM_001367205.1NP_001354134.1  chordin-like protein 1 isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variant 7, encodes isoform 5.
    Source sequence(s)
    AL049176, AL591489
    Conserved Domains (1) summary
    cl17735
    Location:116179
    VWC; von Willebrand factor type C domain
  6. NM_001367206.1NP_001354135.1  chordin-like protein 1 isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 6, encodes isoform 5.
    Source sequence(s)
    AL049176, AL591489
    Conserved Domains (1) summary
    cl17735
    Location:116179
    VWC; von Willebrand factor type C domain
  7. NM_001367207.1NP_001354136.1  chordin-like protein 1 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AL049176, AL591489
    Conserved Domains (1) summary
    cl17735
    Location:115178
    VWC; von Willebrand factor type C domain
  8. NM_001367208.1NP_001354137.1  chordin-like protein 1 isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AL049176, AL591489
    Conserved Domains (1) summary
    cl17735
    Location:116179
    VWC; von Willebrand factor type C domain
  9. NM_001367209.1NP_001354138.1  chordin-like protein 1 isoform 8 precursor

    Status: REVIEWED

    Source sequence(s)
    AL049176, AL591489
    Conserved Domains (1) summary
    cl17735
    Location:116179
    VWC; von Willebrand factor type C domain
  10. NM_145234.4NP_660277.2  chordin-like protein 1 isoform 3 precursor

    See identical proteins and their annotated locations for NP_660277.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses alternate in-frame splice sites in the coding region compared to variant 1. The resulting protein (isoform 3) is shorter but has the identical N- and C-termini compared to isoform 1.
    Source sequence(s)
    AL049176, BC002909, BP377491
    Consensus CDS
    CCDS14553.1
    UniProtKB/Swiss-Prot
    Q9BU40
    Related
    ENSP00000361115.1, ENST00000372045.5
    Conserved Domains (1) summary
    cl17735
    Location:115178
    VWC; von Willebrand factor type C domain

RNA

  1. NR_159734.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL049176, AL591489

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    110673856..110795817 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262222.3XP_005262279.1  chordin-like protein 1 isoform X2

    See identical proteins and their annotated locations for XP_005262279.1

    UniProtKB/Swiss-Prot
    Q9BU40
    Conserved Domains (1) summary
    cl17735
    Location:115178
    VWC; von Willebrand factor type C domain
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