1. Gene
  2. CBLN1 - cerebellin 1 precursor Gene

CBLN1 - cerebellin 1 precursor Gene

中文名称:小脑蛋白 1 前体

种属: Homo sapiens

基因 ID: 869 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种小脑特异性前体蛋白,前小脑蛋白,与补体成分 C1qB 的球状 (非胶原样) 结构域相似。 Precereblin 经过加工后可产生多种衍生物,包括十六肽小脑蛋白,它在浦肯野细胞的突触后结构中高度富集。在人类和大鼠的肾上腺中也发现了 Cerebellin,它已被证明可以增强该腺体的分泌活动。[RefSeq 提供,2008 年 8 月]

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 基因产物(1)

mRNA Protein Name
NM_004352.4 NP_004343.1 cerebellin-1 precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
27418511 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of excitatory postsynaptic potential IMP
IMP: 通过突变表型推断
27418511 GOA
involved in positive regulation of long-term synaptic depression IMP
IMP: 通过突变表型推断
27418511 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CBLN1 蛋白结构

C1q

C1q: C1q domain (63 - 190)

  • 0
  • 100
  • 193 a.a.
蛋白主名 其他名称

cerebellin-1

precerebellin

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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