1. Gene
  2. SPTLC3 - serine palmitoyltransferase long chain base subunit 3 Gene

SPTLC3 - serine palmitoyltransferase long chain base subunit 3 Gene

中文名称:丝氨酸棕榈酰转移酶长链碱基亚基 3

种属: Homo sapiens

同用名: LCB3; SPT3; LCB 3; LCB2B; SPT 3; hLCB2b; SPTLC2L; C20orf38; dJ718P11; dJ718P11.1

基因 ID: 55304 | 基因类型: protein coding

关于 SPTLC3

Cytogenetic location: 20p12.1 Genomic coordinates (GRCh38): 20:13,008,972-13,169,103 (from NCBI)

This gene has 6 transcripts (splice variants), 203 orthologues and 5 paralogues. Broad expression in placenta (RPKM 7.5), thyroid (RPKM 7.0) and 22 other tissues.

功能概要

该基因编码丝氨酸棕榈酰转移酶复合物的一个亚基,该复合物催化鞘脂生物合成中的限速步骤。该亚基代谢月桂酰辅酶 A 和肉豆蔻酰辅酶 A,并生成 C14 和 C16 鞘氨醇碱基。[RefSeq 提供,2017 年 3 月]

This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and generates C14 and C16-sphingoid Bases. [provided by RefSeq, Mar 2017]

SPTLC3 基因产物(2)

mRNA Protein Name
NM_001349945.2 NP_001336874.1 serine palmitoyltransferase 3
NM_018327.4 NP_060797.2 serine palmitoyltransferase 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 protein binding IPI
IPI: 通过物理相互作用推断
19416851 GOA
enables serine C-palmitoyltransferase activity IDA
IDA: 通过直接分析推断
19416851 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within sphingoid biosynthetic process IDA
IDA: 通过直接分析推断
19648650 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
part of serine palmitoyltransferase complex IDA
IDA: 通过直接分析推断
17331073 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

SPTLC3 蛋白结构

Aminotran_1_2

Aminotran_1_2: Aminotransferase class I and II (160 - 520)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 552 a.a.
蛋白主名 其他名称

serine palmitoyltransferase 3

long chain base biosynthesis protein 2b

SPTLC3 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
SPTLC3 Q9NUV7 SPTLC1 Homo sapiens O15269
Pull Down
19416851
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
Sensory Peripheral Neuropathy

Sensory Neuropathy

Peripheral Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathies

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Neuropathy, Hereditary Sensory And Autonomic, Type Ia

HSAN1A

Hsan Ia

Hsan1

Hsn Ia

Hereditary Sensory And Autonomic Neuropathy Type 1a

Neuropathy, Hereditary Sensory And Autonomic, Type 1a

Neuropathy, Hereditary Sensory, Type Ia

Hsn1a

Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a

Hereditary Sensory And Autonomic Neuropathy Type Ia

Neuropathy, Hereditary Sensory And Autonomic, 1a

Hereditary Sensory Neuropathy Type Ia

Hereditary Sensory Radicular Neuropathy Autosomal Dominant Type 1a

Hsn1

Neuropathy, Sensory And Autonomic, Hereditary, Type 1a

Hereditary Sensory Autonomic Neuropathy, Type 1

Neuropathy, Hereditary Sensory And Autonomic, Type Ic

HSAN1C

Hsan Ic

Hsn1c

Hsn Ic

Hereditary Sensory And Autonomic Neuropathy Type 1c

Neuropathy, Hereditary Sensory And Autonomic, Type 1c

Neuropathy, Hereditary Sensory, Type Ic

Hereditary Sensory And Autonomic Neuropathy Type Ic

Neuropathy, Hereditary Sensory And Autonomic, 1c

Hereditary Sensory Neuropathy Type Ic

Neuropathy, Hereditary Sensory/Autonomic, Type Ic

Neuropathy, Sensory And Autonomic, Hereditary, Type Ic

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]

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]

Localized Osteosarcoma

Localised Osteogenic Sarcoma

Localised Osteosarcoma

Localized Osteogenic Sarcoma

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
Felis catus SPTLC3 VGNC VGNC:65665
Canis familiaris SPTLC3 VGNC VGNC:46781
Rattus norvegicus SPTLC3 RGD RGD:1310030
Mus musculus SPTLC3 MGD MGI:2444678
Macaca mulatta SPTLC3 VGNC VGNC:77929
Bos taurus SPTLC3 VGNC VGNC:35258