2. Gene
  3. SPATA5 - spermatogenesis associated 5 Gene

SPATA5 - spermatogenesis associated 5 Gene

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

中文名称：精子发生相关 5

种属: Homo sapiens

同用名: AFG2; SPAF; EHLMRS; NEDHSB

基因 ID: 166378 | 基因类型: protein coding

关于 SPATA5

Cytogenetic location: 4q28.1 Genomic coordinates (GRCh38): 4:122,923,078-123,319,433 (from NCBI)

This gene has 5 transcripts (splice variants), 197 orthologues, 5 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码与多种活动家族相关的 ATPase 成员，其成员由高度保守的 ATPase 结构域定义。该家族的成员参与多种细胞过程，包括膜融合、DNA 复制、微管切断和蛋白质降解。由该基因编码的蛋白质具有假定的线粒体靶向序列，并已被提议在小鼠精子发生过程中维持线粒体功能和完整性。该基因的等位基因变异与癫痫、听力损失和认知障碍综合征有关。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 9 月]

This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and cognitive disability syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

SPATA5 基因产物(3)

mRNA Protein Name
NM_001317799.2 NP_001304728.1 ribosome biogenesis protein SPATA5 isoform 2
NM_001345856.2 NP_001332785.1 ribosome biogenesis protein SPATA5 isoform 3
NM_145207.3 NP_660208.2 ribosome biogenesis protein SPATA5 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 preribosome binding IDA
IDA: 通过直接分析推断
35354024 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
35354024 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in brain development IMP
IMP: 通过突变表型推断
26299366 GOA
involved in ribosomal large subunit biogenesis IDA
IDA: 通过直接分析推断
35354024 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
18445686 GOA
located in spindle IDA
IDA: 通过直接分析推断
18445686 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

SPATA5 蛋白结构

AAA

AAA: ATPase family associated with various cellular activities (AAA) (390 - 522)

AAA

AAA: ATPase family associated with various cellular activities (AAA) (664 - 796)

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

ribosome biogenesis protein SPATA5

ATPase family protein 2 homolog

ATPase family gene 2 homolog

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities

Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome

NEDHSB

Epilepsy, Hearing Loss, And Mental Retardation Syndrome

Ehlmrs

Microcephaly-Intellectual Disability-Sensorineural Deafness-Epilepsy-Abnormal Muscle Tone Syndrome
Kwashiorkor

Kwashiokor

Nutritional Edema With Dyspigmentation Of Skin And Hair

Nutritional Oedema With Dyspigmentation Of Skin And/Or Hair
Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A5

Mddga5

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fkrp-Related
Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Estrogen Excess

Hyperestrogenism
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
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-RS13641 SPATA5 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS13642 SPATA5L1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta SPATA5 VGNC VGNC:77952
Rattus norvegicus SPATA5 RGD RGD:1310478
Bos taurus SPATA5 VGNC VGNC:35187
Canis familiaris SPATA5 VGNC VGNC:54364
Felis catus SPATA5 VGNC VGNC:65615
Mus musculus SPATA5 MGD MGI:1927170
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z