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  2. KIF13A - kinesin family member 13A Gene

KIF13A - kinesin family member 13A Gene

中文名称:驱动蛋白家族成员 13A

种属: Homo sapiens

同用名: RBKIN; bA500C11.2

基因 ID: 63971 | 基因类型: protein coding

关于 KIF13A

Cytogenetic location: 6p22.3 Genomic coordinates (GRCh38): 6:17,759,126-17,987,635 (from NCBI)

This gene has 13 transcripts (splice variants), 204 orthologues and 41 paralogues. Ubiquitous expression in heart (RPKM 12.6), thyroid (RPKM 10.1) and 25 other tissues.

功能概要

该基因编码基于微管的运动蛋白的驱动蛋白家族成员,该家族在定位核内体中发挥作用。该家族成员可以将含有 6-磷酸甘露糖受体的囊泡从反式高尔基体网络引导至质膜,并且对于晚期内体/溶酶体的稳态分布是必要的。在胞质分裂过程中,FYVE-CENT 和 TTC19 从中心体转移到中体也是必需的,并且它在黑素体成熟中发挥作用。该基因的可变剪接导致多个转录变体。[RefSeq 提供,2011 年 8 月]

This gene encodes a member of the Kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containing vesicles from the trans-Golgi network to the plasma membrane, and it is necessary for the steady-state distribution of late endosomes/lysosomes. It is also required for the translocation of FYVE-CENT and TTC19 from the centrosome to the midbody during cytokinesis, and it plays a role in melanosome maturation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

KIF13A 基因产物(5)

mRNA Protein Name
NM_001105566.3 NP_001099036.1 kinesin-like protein KIF13A isoform b
NM_001105567.3 NP_001099037.1 kinesin-like protein KIF13A isoform c
NM_001105568.4 NP_001099038.1 kinesin-like protein KIF13A isoform d
NM_001243423.2 NP_001230352.1 kinesin-like protein KIF13A isoform e
NM_022113.6 NP_071396.4 kinesin-like protein KIF13A isoform a
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 protein binding IPI
IPI: 通过物理相互作用推断
19841138 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in endosome to lysosome transport IMP
IMP: 通过突变表型推断
19841138 GOA
involved in intracellular protein transport IMP
IMP: 通过突变表型推断
20208530 GOA
involved in melanosome organization IMP
IMP: 通过突变表型推断
19841138 GOA
involved in regulation of cytokinesis IMP
IMP: 通过突变表型推断
20208530 GOA
involved in vesicle cargo loading IMP
IMP: 通过突变表型推断
19841138 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centrosome IDA
IDA: 通过直接分析推断
20208530 GOA
located in endosome membrane IDA
IDA: 通过直接分析推断
19841138 GOA
located in midbody IDA
IDA: 通过直接分析推断
20208530 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

KIF13A 蛋白结构

Kinesin

Kinesin: Kinesin motor domain (11 - 352)

FHA

FHA: FHA domain (471 - 534)

KIF1B

KIF1B: Kinesin protein 1B (748 - 792)

DUF3694

DUF3694: Kinesin protein (1003 - 1083)

DUF3694

DUF3694: Kinesin protein (1171 - 1284)

  • 0
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  • 1500
  • 1805 a.a.
蛋白主名 其他名称

kinesin-like protein KIF13A

homolog of mouse KIF13A mannose-6-phosphate receptor transporter

KIF13A 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
KIF13A Q9H1H9 DNAAF6 Homo sapiens Q9NQM4 25416956
种属内
KIF13A Q9H1H9 DNAAF6 Homo sapiens Q9NQM4 25416956
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
Hypomelanosis Of Ito

Incontinentia Pigmenti Achromians

Nevus Of Ito

Ipa

Ito Hypomelanosis

Ito

Pigmentation Disorders

HMI

Incontinentia Pigmenti, Type I, Formerly

Ip1, Formerly

Bloch-Siemans Syndrome

Incontinentia Pigmenti Achromians Syndrome

Ito'S Nevus

Incontinentia Pigmenti Type 1

Nevi Of Ito

Nevus Fuscocaeruleus Acromiodeltoideus

Bloch Sulzberger Syndrome

Skin Pigmentation Disorder

Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

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
Canis familiaris KIF13A VGNC VGNC:42381
Mus musculus KIF13A MGD MGI:1098264
Bos taurus KIF13A VGNC VGNC:54226
Felis catus KIF13A VGNC VGNC:63102
Rattus norvegicus KIF13A RGD RGD:1307825
Macaca mulatta KIF13A VGNC VGNC:73830