2. Gene
  3. DZIP1 - DAZ interacting zinc finger protein 1 Gene

DZIP1 - DAZ interacting zinc finger protein 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：DAZ 相互作用锌指蛋白 1

种属: Homo sapiens

同用名: DZIP; MVP3; DZIPt1; SPGF47

基因 ID: 22873 | 基因类型: protein coding

关于 DZIP1

Cytogenetic location: 13q32.1 Genomic coordinates (GRCh38): 13:95,578,202-95,644,706 (from NCBI)

This gene has 8 transcripts (splice variants), 217 orthologues, 4 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 14.7), kidney (RPKM 9.9) and 20 other tissues.

功能概要

预测可启用金属离子结合活性。参与纤毛组装；生殖细胞发育；和精子发生。位于胞质溶胶中；微管组织中心；和核质。与中心粒共定位。涉及二尖瓣脱垂和生精失败 47。[由基因组资源联盟提供，2022 年 4 月]

Predicted to enable metal ion binding activity. Involved in cilium assembly; germ cell development; and spermatogenesis. Located in cytosol; microtubule organizing center; and nucleoplasm. Colocalizes with centriole. Implicated in mitral valve prolapse and spermatogenic failure 47. [provided by Alliance of Genome Resources, Apr 2022]

DZIP1 基因产物(2)

mRNA Protein Name
NM_014934.5 NP_055749.1 cilium assembly protein DZIP1 isoform 1
NM_198968.4 NP_945319.1 cilium assembly protein DZIP1 isoform 2
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 BBSome binding IDA
IDA: 通过直接分析推断
27979967 GOA
enables molecular adaptor activity IMP
IMP: 通过突变表型推断
27979967 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15081113 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ciliary basal body organization IMP
IMP: 通过突变表型推断
32051257 GOA
involved in cilium assembly IMP
IMP: 通过突变表型推断
19852954 GOA
involved in germ cell development IEP
IEP: 通过表达模式推断
15081113 GOA
involved in heart development IMP
IMP: 通过突变表型推断
31118289 GOA
involved in protein-containing complex localization to centriolar satellite IDA
IDA: 通过直接分析推断
27979967 GOA
involved in sperm flagellum assembly IMP
IMP: 通过突变表型推断
32051257 GOA
involved in spermatogenesis IMP
IMP: 通过突变表型推断
32051257 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centriolar satellite IDA
IDA: 通过直接分析推断
27979967 GOA
colocalizes with centriole IDA
IDA: 通过直接分析推断
19852954 GOA
located in ciliary basal body IDA
IDA: 通过直接分析推断
19852954 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
15081113 GOA
located in nucleus IDA
IDA: 通过直接分析推断
15081113 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

DZIP1 蛋白结构

Dzip-like_N

Dzip-like_N: Iguana/Dzip1-like DAZ-interacting protein N-terminal (58 - 178)

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

cilium assembly protein DZIP1

DAZ interacting protein 1

DZIP1 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
Intra DZIP1 Q86YF9 LUC7L2 Homo sapiens Q9Y383
Validated Y2H
32296183
Intra DZIP1 Q86YF9 PPP2R5E Homo sapiens Q16537
Y2H
21878643
Intra DZIP1 Q86YF9 PPP2R5E Homo sapiens Q16537
Pull Down
21878643
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
Mitral Valve Prolapse 3

Mitral Valve Prolapse, Myxomatous 3

MVP3

Mmvp3

Myxomatous Mitral Valve Prolapse 3
Spermatogenic Failure 47

SPGF47
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism
Orthostatic Intolerance

Mitral Valve Prolapse

Neurocirculatory Asthenia

Mitral Valve Prolapse Syndrome

Irritable Heart

Systolic Click-Murmur Syndrome

Soldiers Heart

Cardiovascular Malfunction Arising From Mental Factors

Cardiovascular Neurosis

Da Costa'S Syndrome

Krishaber'S Disease

Barlow'S Syndrome

Floppy Mitral Valve

Mitral Leaflet Syndrome

Myxomatous Mitral Valve Prolapse

Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency

Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

Orthostatic Intolerance Due To Net Deficiency

Pots Due To Net Deficiency

OI

Intolerance, Orthostatic

Mitral Valve Prolapse, Familial, X-Linked

Ballooning Mitral Valve

Barlow Syndrome

Flail Mitral Leaflet

Myxomatous Mitral Valve

Mitral Valve Prolapse-Click Syndrome

Prolapsing Mitral Valve Leaflet Syndrome

Billowing Mitral Valve Leaflet

Posterior Mitral Leaflet Deformity

Ballooning Posterior Leaflet Syndrome

Blue Valve Syndrome

Floppy Mitral Valve Syndrome

Mitral Valvular Prolapse

Systolic Click 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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04107 DZIP1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS04108 DZIP1L Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus DZIP1 MGD MGI:1914311
Felis catus DZIP1 VGNC VGNC:61691
Rattus norvegicus DZIP1 RGD RGD:1307701
Macaca mulatta DZIP1 VGNC VGNC:71875
Bos taurus DZIP1 VGNC VGNC:28284
Canis familiaris DZIP1 VGNC VGNC:40161
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