1. Gene
  2. BICD1 - BICD cargo adaptor 1 Gene

BICD1 - BICD cargo adaptor 1 Gene

中文名称:BICD 货物适配器 1

种属: Homo sapiens

同用名: BICD; bic-D 1

基因 ID: 636 | 基因类型: protein coding

关于 BICD1

Cytogenetic location: 12p11.21 Genomic coordinates (GRCh38): 12:32,106,847-32,383,633 (from NCBI)

This gene has 10 transcripts (splice variants), 268 orthologues and 1 paralogue. Broad expression in ovary (RPKM 4.3), brain (RPKM 3.8) and 20 other tissues.

功能概要

该基因编码属于双尾 D 家族动力蛋白货物适配器的适配器蛋白。编码的蛋白质作为细胞内货物运输辅助因子,调节基于微管的货物装载到动力蛋白运动复合体上。它还控制动力蛋白运动活动和协调。它具有由 N 和 C 末端的卷曲螺旋结构域组成的结构域结构,这些结构域在其他家族成员中高度保守。该基因中自然发生的突变与短端粒长度和肺气肿有关。[RefSeq 提供,2017 年 8 月]

This gene encodes an adaptor protein that belongs to the bicaudal D family of dynein cargo adaptors. The encoded protein acts as an intracellular cargo transport cofactor that regulates the microtubule-based loading of cargo onto the dynein motor complex. It also controls dynein motor activity and coordination. It has a domain architecture consisting of coiled-coil domains at the N- and C-termini that are highly conserved in Other family members. Naturally occurring mutations in this gene are associated with short telomere length and emphysema. [provided by RefSeq, Aug 2017]

BICD1 基因产物(34)

mRNA Protein Name
NM_001003398.3 NP_001003398.1 protein bicaudal D homolog 1 isoform 2
NM_001354186.2 NP_001341115.1 protein bicaudal D homolog 1 isoform 3
NM_001354187.2 NP_001341116.1 protein bicaudal D homolog 1 isoform 4
NM_001354188.2 NP_001341117.1 protein bicaudal D homolog 1 isoform 5
NM_001354189.2 NP_001341118.1 protein bicaudal D homolog 1 isoform 6
NM_001363603.2 NP_001350532.1 protein bicaudal D homolog 1 isoform 7
NM_001413155.1 NP_001400084.1 protein bicaudal D homolog 1 isoform 2
NM_001413156.1 NP_001400085.1 protein bicaudal D homolog 1 isoform 8
NM_001413157.1 NP_001400086.1 protein bicaudal D homolog 1 isoform 9
NM_001413158.1 NP_001400087.1 protein bicaudal D homolog 1 isoform 10
NM_001413159.1 NP_001400088.1 protein bicaudal D homolog 1 isoform 11
NM_001413160.1 NP_001400089.1 protein bicaudal D homolog 1 isoform 12
NM_001413161.1 NP_001400090.1 protein bicaudal D homolog 1 isoform 13
NM_001413163.1 NP_001400092.1 protein bicaudal D homolog 1 isoform 14
NM_001413164.1 NP_001400093.1 protein bicaudal D homolog 1 isoform 15
NM_001413165.1 NP_001400094.1 protein bicaudal D homolog 1 isoform 16
NM_001413166.1 NP_001400095.1 protein bicaudal D homolog 1 isoform 17
NM_001413167.1 NP_001400096.1 protein bicaudal D homolog 1 isoform 18
NM_001413168.1 NP_001400097.1 protein bicaudal D homolog 1 isoform 19
NM_001413169.1 NP_001400098.1 protein bicaudal D homolog 1 isoform 20
NM_001413170.1 NP_001400099.1 protein bicaudal D homolog 1 isoform 21
NM_001413171.1 NP_001400100.1 protein bicaudal D homolog 1 isoform 22
NM_001413172.1 NP_001400101.1 protein bicaudal D homolog 1 isoform 23
NM_001413173.1 NP_001400102.1 protein bicaudal D homolog 1 isoform 24
NM_001413174.1 NP_001400103.1 protein bicaudal D homolog 1 isoform 25
NM_001413176.1 NP_001400105.1 protein bicaudal D homolog 1 isoform 26
NM_001413177.1 NP_001400106.1 protein bicaudal D homolog 1 isoform 27
NM_001413178.1 NP_001400107.1 protein bicaudal D homolog 1 isoform 28
NM_001413179.1 NP_001400108.1 protein bicaudal D homolog 1 isoform 29
NM_001413180.1 NP_001400109.1 protein bicaudal D homolog 1 isoform 30
NM_001413181.1 NP_001400110.1 protein bicaudal D homolog 1 isoform 31
NM_001413182.1 NP_001400111.1 protein bicaudal D homolog 1 isoform 32
NM_001413183.1 NP_001400112.1 protein bicaudal D homolog 1 isoform 33
NM_001714.4 NP_001705.2 protein bicaudal D homolog 1 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cytoskeletal anchor activity IDA
IDA: 通过直接分析推断
12447383 GOA
enables dynactin binding IDA
IDA: 通过直接分析推断
12447383 GOA
enables dynactin binding IPI
IPI: 通过物理相互作用推断
17139249 GOA
enables dynein complex binding IDA
IDA: 通过直接分析推断
12447383 GOA
enables dynein intermediate chain binding IDA
IDA: 通过直接分析推断
17139249 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17139249 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
17139249 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
12447383 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in minus-end-directed organelle transport along microtubule IMP
IMP: 通过突变表型推断
12447383 GOA
involved in positive regulation of protein localization to centrosome IGI
IGI: 通过遗传相互作用推断
17139249 GOA
involved in positive regulation of receptor-mediated endocytosis IMP
IMP: 通过突变表型推断
20164183 GOA
involved in protein localization to organelle IDA
IDA: 通过直接分析推断
12447383 GOA
involved in regulation of microtubule cytoskeleton organization IGI
IGI: 通过遗传相互作用推断
17139249 GOA
involved in viral process IMP
IMP: 通过突变表型推断
20089649 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with Golgi apparatus IDA
IDA: 通过直接分析推断
17139249 GOA
located in Golgi apparatus IDA
IDA: 通过直接分析推断
17562788 GOA
located in centrosome IMP
IMP: 通过突变表型推断
17139249 GOA
colocalizes with cytoplasmic microtubule IDA
IDA: 通过直接分析推断
20089649 GOA
located in cytoplasmic vesicle IDA
IDA: 通过直接分析推断
12447383 GOA
located in cytosol IDA
IDA: 通过直接分析推断
12447383 GOA
located in membrane IDA
IDA: 通过直接分析推断
12447383 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
20089649 GOA
located in perinuclear region of cytoplasm IMP
IMP: 通过突变表型推断
17139249 GOA
located in secretory vesicle IDA
IDA: 通过直接分析推断
20089649 GOA
located in trans-Golgi network IDA
IDA: 通过直接分析推断
12447383 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

BICD1 蛋白结构

BicD

BicD: Microtubule-associated protein Bicaudal-D (74 - 799)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 975 a.a.
蛋白主名 其他名称

protein bicaudal D homolog 1

bicaudal D homolog 1

BICD1 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
BICD1 Q96G01 GSK3B Homo sapiens P49841
Anti Bait CoIP
17139249
种属内
BICD1 Q96G01 GSK3B Homo sapiens P49841
Anti Tag CoIP
17139249
种属内
BICD1 Q96G01 GSK3B Homo sapiens P49841
Density Sedimentation
17139249
种属内
BICD1 Q96G01 GSK3B Homo sapiens P49841
Y2H Array
17139249
种属内
BICD1 Q96G01 STAT3 Homo sapiens P40763
Pull Down
21988832
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
Granulomatous Disease, Chronic, Autosomal Recessive, 3

CGD3

Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Iii

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 3

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii

Cgd, Autosomal Recessive Cytochrome B-Positive, Type Iii

Granulomatous Disease, Chronic, Due To Ncf4 Deficiency

Chronic Granulomatous Disease 3, Autosomal Recessive

Autosomal Recessive Chronic Granulomatous Disease 3

Autosomal Recessive Cytochrome B-Positive Cgd Type Iii

Cdg3

Chronic Granulomatous Disease Due To Ncf4 Deficiency

Cgd Autosomal Recessive Cytochrome B-Positive Type Iii

Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Iii

Granulomatous Disease Chronic Due To Ncf4 Deficiency

Granulomatous Disease, Chronic, Autosomal Recessive Cytochrome B-Positive, Type 3

Spinal Muscular Atrophy With Lower Extremity Predominant

Spinal Muscular Atrophy With Lower Extremity Predominance

Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures

Kugelberg-Welander Syndrome, Autosomal Dominant

Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures

Sma-Led

Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant

Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant

Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

Spinal Muscular Atrophy, Lower Extremity, Dominant

Perry Syndrome

Parkinsonism With Alveolar Hypoventilation And Mental Depression

PERRYS

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 BICD1 VGNC VGNC:26491
Mus musculus BICD1 MGD MGI:1101760
Rattus norvegicus BICD1 RGD RGD:1309444
Macaca mulatta BICD1 VGNC VGNC:70249
Felis catus BICD1 VGNC VGNC:83508
Canis familiaris BICD1 VGNC VGNC:38450