2. Gene
  3. SPTSSA - serine palmitoyltransferase small subunit A Gene

SPTSSA - serine palmitoyltransferase small subunit A Gene

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

中文名称：丝氨酸棕榈酰转移酶小亚基 A

种属: Homo sapiens

同用名: SSSPTA; C14orf147

基因 ID: 171546 | 基因类型: protein coding

关于 SPTSSA

Cytogenetic location: 14q13.1 Genomic coordinates (GRCh38): 14:34,432,788-34,462,240 (from NCBI)

This gene has 1 transcript (splice variant), 160 orthologues and 1 paralogue. Ubiquitous expression in adrenal (RPKM 46.3), colon (RPKM 28.8) and 23 other tissues.

功能概要

丝氨酸棕榈酰转移酶 (SPT; EC 2.3.1.50) 催化鞘脂生物合成中的第一个承诺和限速步骤。 SSSPTA 是一个小的 SPT 亚基，可刺激 SPT 活性并使酰基辅酶 A 优先于 SPTLC1 (MIM 605712) 和 SPTLC2 (MIM 605713) 或 SPTLC3 (MIM 611120) 的 SPT 催化异二聚体 (Han 等人，2009 [PubMed 19416851) ]) .[OMIM 提供，2010 年 11 月]

Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]

SPTSSA 基因产物(1)

mRNA Protein Name
NM_138288.4 NP_612145.2 serine palmitoyltransferase small subunit 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
19416851 GOA
contributes to serine C-palmitoyltransferase activity IDA
IDA: 通过直接分析推断
19416851 GOA
enables serine C-palmitoyltransferase activity IDA
IDA: 通过直接分析推断
25691431 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within ceramide biosynthetic process IDA
IDA: 通过直接分析推断
25691431 GOA
involved in protein localization IDA
IDA: 通过直接分析推断
23510452 GOA
involved in sphingosine biosynthetic process IDA
IDA: 通过直接分析推断
19416851 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
23510452 GOA
part of serine palmitoyltransferase complex IDA
IDA: 通过直接分析推断
19416851 GOA
part of serine palmitoyltransferase complex IPI
IPI: 通过物理相互作用推断
19416851 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

SPTSSA 蛋白结构

SPT_ssu-like

SPT_ssu-like: Small subunit of serine palmitoyltransferase-like (9 - 64)

  • 0
  • 71 a.a.
蛋白主名 其他名称

serine palmitoyltransferase small subunit A

small subunit of serine palmitoyltransferase A

SPTSSA 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 SPTSSA Q969W0 RHBDL1 Homo sapiens O75783
Y2H Prey Pooling
32296183
Intra SPTSSA Q969W0 RHBDL1 Homo sapiens O75783
Y2H Array
32296183
Intra SPTSSA Q969W0 GET1 Homo sapiens O00258
Y2H Prey Pooling
32296183
Intra SPTSSA Q969W0 GET1 Homo sapiens O00258
Y2H Array
32296183
Intra SPTSSA Q969W0 HERPUD2 Homo sapiens Q9BSE4
Y2H Array
32296183
Intra SPTSSA Q969W0 HERPUD2 Homo sapiens Q9BSE4
Y2H Prey Pooling
32296183
Intra SPTSSA Q969W0 HERPUD2 Homo sapiens Q9BSE4
Validated Y2H
32296183
Intra SPTSSA Q969W0 CYSRT1 Homo sapiens A8MQ03
Y2H Array
32296183
Intra SPTSSA Q969W0 CYSRT1 Homo sapiens A8MQ03
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
Nephrotic Syndrome, Type 14

Sphingosine Phosphate Lyase Insufficiency Syndrome

Nephrotic Syndrome 14

NPHS14

Splis

Nephrotic Syndrome Type 14

Sgpl1 Deficiency

Steroid-Resistant Nephrotic Syndrome Type 14

Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency

Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency
Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I

Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

Hsan1e

Hsan1

Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

Hsn1e

Hsnie

Hereditary Sensory Neuropathy Type Ie

Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory And Autonomic Neuropathy Type 1e

Hereditary Sensory Neuropathy With Hearing Loss And Dementia

Dnmt1-Complex Disorder

Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

Hsn Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]
Alveoli Adenoma

Alveolar Adenoma

Adenoma Of Alveoli

Adenoma Of The Alveoli
Endometrial Adenosquamous Carcinoma

Adenosquamous Carcinoma Of Endometrium

Adenosquamous Carcinoma Of The Endometrium

Endometrial Adenosquamous Cancer

Endometrial Adenosquamous Cell Carcinoma
Bronchial Benign Neoplasm

Bronchus Neoplasm

Neoplasm Of Bronchus

Bronchial Neoplasms

Bronchial Neoplasm
Hereditary Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathy

Hereditary Sensory And Autonomic Neuropathies

Familial Dysautonomia, Type Ii

Hsan

Sensory Neuropathy Hereditary

Neuropathy, Sensory And Autonomic, Hereditary

Neuropathy, Sensory, Hereditary

Sensory Neuropathy, Hereditary

Charcot-Marie-Tooth Disease

Cmt - [Charcot-Marie-Tooth Disease]
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13739 SPTSSA Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SPTSSA RGD RGD:1565821
Bos taurus SPTSSA VGNC VGNC:35259
Mus musculus SPTSSA MGD MGI:1913399
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