1. Gene
  2. CFAP45 - cilia and flagella associated protein 45 Gene

CFAP45 - cilia and flagella associated protein 45 Gene

中文名称:纤毛和鞭毛相关蛋白 45

种属: Homo sapiens

同用名: HTX11; NESG1; CCDC19

基因 ID: 25790 | 基因类型: protein coding

关于 CFAP45

Cytogenetic location: 1q23.2 Genomic coordinates (GRCh38): 1:159,872,364-159,900,165 (from NCBI)

This gene has 6 transcripts (splice variants), 207 orthologues and is associated with 1 phenotype. Biased expression in testis (RPKM 17.3), lung (RPKM 4.0) and 1 other tissue.

功能概要

启用 AMP 绑定活动。参与建立左/右不对称和带鞭毛的精子活力。位于 9+2 运动纤毛中;轴突;和核质。 [由基因组资源联盟提供,2022 年 4 月]

Enables AMP binding activity. Involved in establishment of left/right asymmetry and flagellated sperm motility. Located in 9+2 motile cilium; axoneme; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

CFAP45 基因产物(1)

mRNA Protein Name
NM_012337.3 NP_036469.2 cilia- and flagella-associated protein 45
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 AMP binding IDA
IDA: 通过直接分析推断
33139725 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in establishment of left/right asymmetry IMP
IMP: 通过突变表型推断
33139725 GOA
involved in flagellated sperm motility IMP
IMP: 通过突变表型推断
33139725 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in 9+2 motile cilium IDA
IDA: 通过直接分析推断
33139725 GOA
located in axonemal microtubule IDA
IDA: 通过直接分析推断
36191189 GOA
located in axoneme IDA
IDA: 通过直接分析推断
33139725 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

CFAP45 蛋白结构

TPH

TPH: Trichohyalin-plectin-homology domain (186 - 533)

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  • 500
  • 551 a.a.
蛋白主名 其他名称

cilia- and flagella-associated protein 45

coiled-coil domain containing 19

CFAP45 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
CFAP45 Q9UL16 ENKUR Homo sapiens Q8TC29
Y2H Array
32296183
种属内
CFAP45 Q9UL16 ENKUR Homo sapiens Q8TC29
Y2H Prey Pooling
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
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility

HTX11

Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

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 CFAP45 VGNC VGNC:39163
Felis catus CFAP45 VGNC VGNC:60814
Mus musculus CFAP45 MGD MGI:1919120
Rattus norvegicus CFAP45 RGD RGD:1561559
Bos taurus CFAP45 VGNC VGNC:27244
Macaca mulatta CFAP45 VGNC VGNC:70963