CBLN1 cerebellin 1 precursor [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 16q12.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (49277917..49281838, complement)
RS_2023_10	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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Family-Based Cohort Association Study of PRKCB1, CBLN1 and KCNMB4 Gene Polymorphisms and Autism in Polish Population.
Title: Family-Based Cohort Association Study of PRKCB1, CBLN1 and KCNMB4 Gene Polymorphisms and Autism in Polish Population.
Serum amphiregulin and cerebellin-1 levels in severe preeclampsia.
Title: Serum amphiregulin and cerebellin-1 levels in severe preeclampsia.
Cbln1 and Cbln2 are co-expressed in the endolysosomal compartment of the thalamic neurons responsible for the synaptic alterations in striatum of Cbln1-null mice.
Title: Comparison of Cbln1 and Cbln2 functions using transgenic and knockout mice.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69147 (e-PCR)
- UniSTS:3843

NoName (e-PCR)
- UniSTS:483614

Cbln1 (e-PCR), detects polymorphism
- UniSTS:525884

D16S2661 (e-PCR)
- UniSTS:57151

SHGC-60807 (e-PCR)
- UniSTS:76374

G15895 (e-PCR)
- UniSTS:72832

SHGC-60729 (e-PCR)
- UniSTS:12674

CBLN1_8243 (e-PCR)
- UniSTS:467596

D16S2966 (e-PCR)
- UniSTS:60594

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
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 more info	PubMed
located_in extracellular region	ISS Inferred from Sequence or Structural Similarity more info
is_active_in glutamatergic synapse	IBA Inferred from Biological aspect of Ancestor more info
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 synaptic cleft	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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.