1. Gene
  2. CALN1 - calneuron 1 Gene

CALN1 - calneuron 1 Gene

中文名称:钙神经元 1

种属: Homo sapiens

同用名: CABP8

基因 ID: 83698 | 基因类型: protein coding

关于 CALN1

Cytogenetic location: 7q11.22 Genomic coordinates (GRCh38): 7:71,779,491-72,504,279 (from NCBI)

This gene has 6 transcripts (splice variants), 277 orthologues and 20 paralogues. Biased expression in brain (RPKM 8.4), adrenal (RPKM 3.0) and 1 other tissue.

功能概要

该基因编码的蛋白质与钙调蛋白家族的钙结合蛋白高度相似。编码的蛋白质包含两个 EF 手域和潜在的钙结合位点。可变剪接导致多个转录本变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a protein with high similarity to the calcium-binding proteins of the Calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

CALN1 基因产物(3)

mRNA Protein Name
NM_001017440.3 NP_001017440.1 calcium-binding protein 8 isoform 2
NM_001363460.1 NP_001350389.1 calcium-binding protein 8 isoform 2
NM_031468.4 NP_113656.2 calcium-binding protein 8 isoform 1
基因本体论
  • 分子功能
  • 细胞组分
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
32296183 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in trans-Golgi network membrane IDA
IDA: 通过直接分析推断
19338761 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

CALN1 蛋白结构

EF-hand_7

EF-hand_7: EF-hand domain pair (41 - 100)

  • 0
  • 100
  • 200
  • 219 a.a.
蛋白主名 其他名称

calcium-binding protein 8

calcium-binding protein CABP8

CALN1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CALN1 Q9BXU9 LIME1 Homo sapiens Q9H400 32296183
种属内
CALN1 Q9BXU9 LIME1 Homo sapiens Q9H400 32296183
种属内
CALN1 Q9BXU9 LIME1 Homo sapiens Q9H400 32296183
种属内
CALN1 Q9BXU9 SLPI Homo sapiens P03973 32296183
种属内
CALN1 Q9BXU9 SLPI Homo sapiens P03973 32296183
种属内
CALN1 Q9BXU9 USE1 Homo sapiens Q9NZ43 32296183
种属内
CALN1 Q9BXU9 FATE1 Homo sapiens Q969F0 32296183
种属内
CALN1 Q9BXU9 FATE1 Homo sapiens Q969F0 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
D-Glyceric Aciduria

D-Glyceric Acidemia

D-Glycericacidemia

Glycerate Kinase Deficiency

D-Glycerate Kinase Deficiency

Non Ketotic Hyperglycinemia Syndrome

Deficiency Of Glycerate Kinase

Hyperglycinemia, Non-Ketotic

D-GA

Deafness, Autosomal Recessive 39

DFNB39

Autosomal Recessive Nonsyndromic Deafness 39

Autosomal Recessive Deafness 39

Deafness, Autosomal Recessive, 39

Congenital Neurosensory Deafness Autosomal Recessive 39

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 39

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 39

Deafness, Autosomal Recessive, Type 39

Drug Psychosis

Drug-Induced Psychosis

Drug-Induced Psychotic Disorder

Psychoses, Substance-Induced

Psychoses, Drug

Drug-Induced Mental Disorder
Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

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
Macaca mulatta CALN1 VGNC VGNC:82078
Mus musculus CALN1 MGD MGI:2155987
Rattus norvegicus CALN1 RGD RGD:1305843
Canis familiaris CALN1 VGNC VGNC:38674
Bos taurus CALN1 VGNC VGNC:26714