1. Gene
  2. SMPDL3B - sphingomyelin phosphodiesterase acid like 3B Gene

SMPDL3B - sphingomyelin phosphodiesterase acid like 3B Gene

中文名称:鞘磷脂磷酸二酯酶酸样 3B

种属: Homo sapiens

同用名: ASML3B

基因 ID: 27293 | 基因类型: protein coding

关于 SMPDL3B

Cytogenetic location: 1p35.3 Genomic coordinates (GRCh38): 1:27,935,000-27,959,152 (from NCBI)

This gene has 6 transcripts (splice variants), 206 orthologues and 2 paralogues. Biased expression in duodenum (RPKM 6.3), colon (RPKM 6.3) and 13 other tissues.

功能概要

启用磷酸二酯水解酶活性。预计参与膜脂分解代谢过程;炎症反应的负调节;和 toll 样受体信号通路的负调控。位于细胞外外泌体。 [由基因组资源联盟提供,2022 年 4 月]

Enables phosphoric diester hydrolase activity. Predicted to be involved in membrane lipid catabolic process; negative regulation of inflammatory response; and negative regulation of Toll-like Receptor signaling pathway. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]

SMPDL3B 基因产物(3)

mRNA Protein Name
NM_001009568.3 NP_001009568.1 acid sphingomyelinase-like phosphodiesterase 3b isoform 2 precursor
NM_001304579.2 NP_001291508.1 acid sphingomyelinase-like phosphodiesterase 3b isoform 3
NM_014474.4 NP_055289.2 acid sphingomyelinase-like phosphodiesterase 3b isoform 1 precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables phosphoric diester hydrolase activity IMP
IMP: 通过突变表型推断
26095358 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
31217420 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

SMPDL3B 蛋白结构

Metallophos

Metallophos: Calcineurin-like phosphoesterase (22 - 280)

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

acid sphingomyelinase-like phosphodiesterase 3b

ASM-like phosphodiesterase 3b

关联疾病

疾病名称 别名
Xia-Gibbs Syndrome

Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome

XIGIS

Mrd25

Ahdc1-Related Intellectual Disability - Obstructive Sleep Apnea - Mild Dysmorphism Syndrome

Mental Retardation, Autosomal Dominant 25, Formerly

Mrd25, Formerly

Autosomal Dominant Mental Retardation 25

Autosomal Dominant Intellectual Disability 25

Xgs

Lipoid Nephrosis

Minimal Change Disease

Minimal Change Glomerulonephritis

Nephrotic Syndrome With Lesion Of Minimal Change Glomerulonephritis

Nephrotic Syndrome With Lesion Of Minimal Change Nephrotic Syndrome

Idiopathic Minimal Change Nephrotic Syndrome

Mcns

Minimal Change Glomerulopathy

Minimal Change Nephrotic Syndrome

Nephrotic Syndrome Minimal Change

Nephrosis, Lipoid

Glomerulonephritis, Minimal Change

Nephrotic Syndrome, Minimal Change

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Nephrotic Syndrome, Type 7

Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 7

NPHS7

Nephrotic Syndrome Type 7

Ig-Mediated Membranoproliferative Glomerulonephritis

Ig-Mediated Mpgn

Immunoglobulin-Mediated Mpgn

Nephrotic Syndrome, Type 7, With Membranoproliferative Glomerulonephritis

Hemolytic Uremic Syndrome, Atypical 7

Nephrotic Syndrome Type 7 With Membranoptoliferative Glomerulonephritis

Hemolytic Uremic Syndrome With Dgke Deficiency

Hus With Dgke Deficiency

Hemolytic Uremic Syndrome Atypical 7

AHUS7

Nephrotic Syndrome 7

Nephrotic Syndrome Type 7 With Membranoproliferative Glomerulonephritis

Astigmatism
Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

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 SMPDL3B MGD MGI:1916022
Rattus norvegicus SMPDL3B RGD RGD:1307458
Felis catus SMPDL3B VGNC VGNC:65505
Canis familiaris SMPDL3B VGNC VGNC:46574
Bos taurus SMPDL3B VGNC VGNC:35034