1. Gene
  2. SEPTIN4 - septin 4 Gene

SEPTIN4 - septin 4 Gene

中文名称:脓毒症 4

种属: Homo sapiens

同用名: H5; ARTS; MART; SEP4; CE5B3; SEPT4; PNUTL2; hucep-7; BRADEION; C17orf47; hCDCREL-2

基因 ID: 5414 | 基因类型: protein coding

关于 SEPTIN4

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:58,520,256-58,544,328 (from NCBI)

This gene has 33 transcripts (splice variants) and 60 orthologues. Biased expression in brain (RPKM 37.9), adrenal (RPKM 26.6) and 11 other tissues.

功能概要

该基因是核苷酸结合蛋白 septin 家族的成员,最初在酵母中被描述为细胞分裂周期调节蛋白。 Septins 在酵母、果蝇和小鼠中高度保守,似乎可以调节细胞骨架组织。 septin 功能的破坏扰乱胞质分裂并导致大的多核或多倍体细胞。该基因在大脑和心脏中高度表达。已经针对该基因描述了编码不同亚型的选择性剪接转录物变体。其中一种异构体 (称为 ARTS) 是不同的;它定位于线粒体,在细胞凋亡和癌症中发挥作用。[RefSeq 提供,2010 年 11 月]

This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in Apoptosis and Cancer. [provided by RefSeq, Nov 2010]

SEPTIN4 基因产物(10)

mRNA Protein Name
NM_001038704.4 NP_001033793.3 septin-4 isoform 13
NM_001198713.2 NP_001185642.1 septin-4 isoform 4
NM_001256782.2 NP_001243711.1 septin-4 isoform 5
NM_001256822.2 NP_001243751.1 septin-4 isoform 6
NM_001363803.2 NP_001350732.1 septin-4 isoform 7
NM_001368771.2 NP_001355700.1 septin-4 isoform 11
NM_001368772.2 NP_001355701.1 septin-4 isoform 12
NM_004574.5 NP_004565.1 septin-4 isoform 1
NM_080415.4 NP_536340.1 septin-4 isoform 2
NM_080416.4 NP_536341.1 septin-4 isoform 3
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 GTP binding IMP
IMP: 通过突变表型推断
17105210 GOA
enables GTPase activity IMP
IMP: 通过突变表型推断
17105210 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
17105210 GOA
enables magnesium ion binding IMP
IMP: 通过突变表型推断
17105210 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17685441 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of apoptotic process IDA
IDA: 通过直接分析推断
21185211 GOA
involved in positive regulation of intrinsic apoptotic signaling pathway IMP
IMP: 通过突变表型推断
21185211 GOA
involved in positive regulation of protein ubiquitination IDA
IDA: 通过直接分析推断
21185211 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in dopaminergic synapse IDA
IDA: 通过直接分析推断
17296554 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
21695558 GOA
is active in presynapse IDA
IDA: 通过直接分析推断
17296554 GOA
part of septin complex IDA
IDA: 通过直接分析推断
25588830 GOA
part of septin complex IMP
IMP: 通过突变表型推断
17105210 GOA
located in sperm annulus IDA
IDA: 通过直接分析推断
25588830 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

SEPTIN4 蛋白结构

Septin

Septin: Septin (141 - 417)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 478 a.a.
蛋白主名 其他名称

septin-4

CE5B3 beta

关联疾病

疾病名称 别名
American Histoplasmosis

Infection By Histoplasma Capsulatum

Amyotrophic Neuralgia

Neuralgic Amyotrophy

Brachial Plexus Neuritis

Neuralgic Shoulder Amyotrophy

Acute Brachial Plexus Neuritis

Immune Brachial Plexus Neuropathy

Mononeuritis Multiplex With Brachial Predilection

Parsonage-Turner Syndrome

Brachial Plexus Neuropathy

Brachial Plexopathy

Brachial Plexus Neuropathies

Brachial Plexus Disorder

Bpn - [Brachial Plexus Neuropathy]

Brachial Plexus Disease

Neuropathic Plexus Brachialis

Brachial Plexus Syndrome

Brachial Plexus Irritation

Brachial Plexus Lesion

Brachial Plexus Pressure

Compression Of Brachial Plexus

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome

Meckel Syndrome

Dysencephalia Splanchnocystica

Meckel Syndrome 1

MKS1

Mks

Gruber Syndrome

Meckel-Gruber Syndrome, Type 1

Mes

Dysencephalia Splachnocystica

Meckel Gruber Syndrome

Meckel Syndrome Type 1

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S 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 SEPTIN4 VGNC VGNC:55818
Mus musculus SEPTIN4 MGD MGI:1270156
Rattus norvegicus SEPTIN4 RGD RGD:1308781
Bos taurus SEPTIN4 VGNC VGNC:34456