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CBLN1 cerebellin 1 precursor [ Homo sapiens (human) ]

Gene ID: 869, updated on 22-Aug-2020

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
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

Genomic context

See CBLN1 in Genome Data Viewer
Location:
16q12.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (49277917..49281838, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (49311828..49315742, 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

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of autistic-like traits in a general population study of young adults.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
cerebellin-1
Names
precerebellin

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.

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
    Related
    ENSP00000219197.5, ENST00000219197.11
    Conserved Domains (1) summary
    smart00110
    Location:55193
    C1Q; Complement component C1q domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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