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CBLN1 cerebellin 1 precursor [ Homo sapiens (human) ]

Gene ID: 869, updated on 22-Sep-2022

Summary

Official Symbol
CBLN1provided by HGNC
Official Full Name
cerebellin 1 precursorprovided by HGNC
Primary source
HGNC:HGNC:1543
See related
Ensembl:ENSG00000102924 MIM:600432; AllianceGenome:HGNC:1543
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 2008]
Expression
Biased expression in fat (RPKM 8.8), testis (RPKM 8.3) and 9 other tissues See more
Orthologs
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Genomic context

See CBLN1 in Genome Data Viewer
Location:
16q12.1
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (49277917..49281838, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (55075687..55079608, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (49311828..49315749, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1667 Neighboring gene uncharacterized LOC102724847 Neighboring gene uncharacterized LOC102724859 Neighboring gene uncharacterized LOC105371243

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

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study of autistic-like traits in a general population study of young adults.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cerebellar granule cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
involved_in establishment of localization in cell IEA
Inferred from Electronic Annotation
more info
 
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in maintenance of synapse structure IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in maintenance of synapse structure ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of excitatory postsynaptic potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of inhibitory synapse assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in nervous system development TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of long-term synaptic depression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of synapse assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in protein secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of postsynaptic density assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of presynapse assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in synapse assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in synapse organization ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in collagen-containing extracellular matrix HDA PubMed 
located_in extracellular region ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in glutamatergic synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in parallel fiber to Purkinje cell synapse IEA
Inferred from Electronic Annotation
more info
 
located_in postsynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in synaptic cleft IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
cerebellin-1
Names
precerebellin

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_004352.4NP_004343.1  cerebellin-1 precursor

    See identical proteins and their annotated locations for NP_004343.1

    Status: VALIDATED

    Source sequence(s)
    AC007614, M58583
    Consensus CDS
    CCDS10736.1
    UniProtKB/Swiss-Prot
    P23435, Q52M09
    Related
    ENSP00000219197.5, ENST00000219197.11
    Conserved Domains (1) summary
    smart00110
    Location:55193
    C1Q; Complement component C1q domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    49277917..49281838 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    55075687..55079608 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)