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    CHRDL1 chordin like 1 [ Homo sapiens (human) ]

    Gene ID: 91851, updated on 10-Nov-2018

    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; Vega:OTTHUMG00000022199
    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:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (110673856..110796058, 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat'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
      5001..127203
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001143981.1NP_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, OTTHUMP00000023854, ENST00000372042.5, OTTHUMT00000057913
      Conserved Domains (1) summary
      cl17735
      Location:116179
      VWC; von Willebrand factor type C domain
    2. NM_001143982.1NP_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, AL591489, BC002909
      Consensus CDS
      CCDS48150.1
      UniProtKB/Swiss-Prot
      Q9BU40
      Related
      ENSP00000399739.2, OTTHUMP00000226627, ENST00000444321.2, OTTHUMT00000378618
      Conserved Domains (1) summary
      cl17735
      Location:115178
      VWC; von Willebrand factor type C domain
    3. NM_001143983.2NP_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, AL591489, DC404314
      Consensus CDS
      CCDS48148.2
      UniProtKB/Swiss-Prot
      Q9BU40
      Related
      ENSP00000418443.1, OTTHUMP00000216338, ENST00000482160.5, OTTHUMT00000357087
      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
    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
    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
    7. NM_001367207.1NP_001354136.1  chordin-like protein 1 isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049176, AL591489
    8. NM_001367208.1NP_001354137.1  chordin-like protein 1 isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049176, AL591489
    9. NM_001367209.1NP_001354138.1  chordin-like protein 1 isoform 8 precursor

      Status: REVIEWED

      Source sequence(s)
      AL049176, AL591489
    10. NM_145234.3NP_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, OTTHUMP00000023853, ENST00000372045.5, OTTHUMT00000057912
      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 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      110673856..110796058 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262224.1XP_005262281.1  chordin-like protein 1 isoform X3

      Conserved Domains (1) summary
      cl17735
      Location:115178
      VWC; von Willebrand factor type C domain
    2. XM_005262223.1XP_005262280.1  chordin-like protein 1 isoform X4

      Conserved Domains (1) summary
      cl17735
      Location:116179
      VWC; von Willebrand factor type C domain
    3. 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
    4. XM_017029959.1XP_016885448.1  chordin-like protein 1 isoform X4

      Conserved Domains (1) summary
      cl17735
      Location:116179
      VWC; von Willebrand factor type C domain
    5. XM_005262221.1XP_005262278.1  chordin-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q9BU40
      Conserved Domains (1) summary
      cl17735
      Location:116179
      VWC; von Willebrand factor type C domain
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