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CBLN3 cerebellin 3 precursor [ Homo sapiens (human) ]

Gene ID: 643866, updated on 11-Jun-2021

Summary

Official Symbol
CBLN3provided by HGNC
Official Full Name
cerebellin 3 precursorprovided by HGNC
Primary source
HGNC:HGNC:20146
See related
Ensembl:ENSG00000139899 MIM:612978
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
Also known as
PRO1486
Summary
Members of the precerebellin family, such as CBLN3, contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminal C1q signature domain (see MIM 120550) that mediates trimeric assembly of atypical collagen complexes. However, precerebellins do not contain a collagen motif, suggesting that they are not conventional components of the extracellular matrix (Pang et al., 2000 [PubMed 10964938]).[supplied by OMIM, Aug 2009]
Expression
Broad expression in spleen (RPKM 5.3), lymph node (RPKM 4.6) and 23 other tissues See more
Orthologs
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Genomic context

See CBLN3 in Genome Data Viewer
Location:
14q12
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (24426545..24429668, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24895751..24898874, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene nuclear factor of activated T cells 4 Neighboring gene NYN domain and retroviral integrase containing Neighboring gene KH and NYN domain containing Neighboring gene uncharacterized LOC101927045 Neighboring gene short chain dehydrogenase/reductase family 39U member 1

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
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

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_001039771.3NP_001034860.1  cerebellin-3 precursor

    See identical proteins and their annotated locations for NP_001034860.1

    Status: VALIDATED

    Source sequence(s)
    AL132800, CD368047
    Consensus CDS
    CCDS32057.1
    UniProtKB/Swiss-Prot
    Q6UW01
    Related
    ENSP00000267406.6, ENST00000267406.11
    Conserved Domains (1) summary
    cl23878
    Location:71205
    C1q; C1q domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    24426545..24429668 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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