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    CBLN4 cerebellin 4 precursor [ Homo sapiens (human) ]

    Gene ID: 140689, updated on 10-Dec-2024

    Summary

    Official Symbol
    CBLN4provided by HGNC
    Official Full Name
    cerebellin 4 precursorprovided by HGNC
    Primary source
    HGNC:HGNC:16231
    See related
    Ensembl:ENSG00000054803 MIM:615029; AllianceGenome:HGNC:16231
    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
    CBLNL1
    Summary
    This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse homolog of the protein encoded by this gene competes with netrin to bind to the deleted in colorectal cancer receptor. [provided by RefSeq, Aug 2012]
    Expression
    Biased expression in adrenal (RPKM 11.4), brain (RPKM 6.3) and 3 other tissues See more
    Orthologs
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    Genomic context

    See CBLN4 in Genome Data Viewer
    Location:
    20q13.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (55997357..56005519, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (57772334..57780496, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (54572413..54580575, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372677 Neighboring gene uncharacterized LOC105372678 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:54434810-54435348 Neighboring gene uncharacterized LOC105376989 Neighboring gene uncharacterized LOC105372680

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in inhibitory synapse assembly  
    involved_in protein secretion  
    involved_in trans-synaptic signaling, modulating synaptic transmission  
    Component Evidence Code Pubs
    located_in GABA-ergic synapse  
    located_in collagen-containing extracellular matrix PubMed 
    located_in extracellular region  
    located_in extracellular space  
    located_in glutamatergic synapse  
    is_active_in synapse  
    located_in synaptic cleft  

    General protein information

    Preferred Names
    cerebellin-4
    Names
    cerebellin precursor-like 1
    cerebellin-like glycoprotein 1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_080617.6NP_542184.1  cerebellin-4 precursor

      See identical proteins and their annotated locations for NP_542184.1

      Status: REVIEWED

      Source sequence(s)
      AK289640, AL117383, AY358527, DA137489, DA391781
      Consensus CDS
      CCDS13448.1
      UniProtKB/Swiss-Prot
      A8K0S5, Q9NTU7
      Related
      ENSP00000064571.2, ENST00000064571.3
      Conserved Domains (1) summary
      cl23878
      Location:70201
      C1q; C1q domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      55997357..56005519 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      57772334..57780496 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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