1. Gene
  2. SPTSSB - serine palmitoyltransferase small subunit B Gene

SPTSSB - serine palmitoyltransferase small subunit B Gene

中文名称:丝氨酸棕榈酰转移酶小亚基 B

种属: Homo sapiens

同用名: ADMP; SSSPTB; C3orf57

基因 ID: 165679 | 基因类型: protein coding

关于 SPTSSB

Cytogenetic location: 3q26.1 Genomic coordinates (GRCh38): 3:161,344,798-161,371,517 (from NCBI)

This gene has 4 transcripts (splice variants), 189 orthologues and 1 paralogue. Biased expression in stomach (RPKM 17.1), skin (RPKM 13.9) and 5 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。 SSSPTB 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. SSSPTB 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]

SPTSSB 基因产物(2)

mRNA Protein Name
NM_001040100.2 NP_001035189.1 serine palmitoyltransferase small subunit B
NM_001320679.2 NP_001307608.1 serine palmitoyltransferase small subunit B
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
生物过程 GO 注释 逻辑证据 参考文献 来源
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
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

SPTSSB 蛋白结构

SPT_ssu-like

SPT_ssu-like: Small subunit of serine palmitoyltransferase-like (6 - 62)

  • 0
  • 76 a.a.
蛋白主名 其他名称

serine palmitoyltransferase small subunit B

androgen down regulated in mouse prostate

关联疾病

疾病名称 别名
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]

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

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus SPTSSB MGD MGI:1913433
Felis catus SPTSSB VGNC VGNC:65666
Bos taurus SPTSSB VGNC VGNC:35260
Canis familiaris SPTSSB VGNC VGNC:46782
Rattus norvegicus SPTSSB RGD RGD:2324614