1. Gene
  2. CBLN1 - cerebellin 1 precursor Gene

CBLN1 - cerebellin 1 precursor Gene

Homo sapiens
Gene ID: 869 | Gene type: protein coding

About CBLN1

Cytogenetic location: 16q12.1 Genomic coordinates (GRCh38): 16:49,277,917-49,281,838 (from NCBI)

This gene has 3 transcripts (splice variants), 202 orthologues and 3 paralogues. Biased expression in fat (RPKM 8.8), testis (RPKM 8.3) and 9 other tissues.

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]

CBLN1 Products(1)

mRNA Protein Name
NM_004352.4 NP_004343.1 cerebellin-1 precursor

CBLN1 Protein Structure

C1q

C1q: C1q domain (63 - 190)

  • 0
  • 100
  • 193 a.a.
Protein Preferred Names Protein Names

cerebellin-1

precerebellin

Related Diseases

Diseases Alias
Postsurgical Hypothyroidism

Postoperative Hypothyroidism

Post-Surgical Hypothyroidism

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus CBLN1 VGNC VGNC:26811
Rattus norvegicus CBLN1 RGD RGD:1562813
Macaca mulatta CBLN1 VGNC VGNC:70556
Mus musculus CBLN1 MGD MGI:88281
Canis familiaris CBLN1 VGNC VGNC:38761