1. Gene
  2. SGPL1 - sphingosine-1-phosphate lyase 1 Gene

SGPL1 - sphingosine-1-phosphate lyase 1 Gene

中文名称:1-磷酸鞘氨醇裂解酶 1

种属: Homo sapiens

同用名: SPL; S1PL; NPHS14

基因 ID: 8879 | 基因类型: protein coding

关于 SGPL1

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:70,815,948-70,881,184 (from NCBI)

This gene has 18 transcripts (splice variants), 212 orthologues, 7 paralogues and is associated with 2 phenotypes. Ubiquitous expression in urinary bladder (RPKM 14.9), skin (RPKM 13.8) and 25 other tissues.

功能概要

启用二氢鞘氨醇-1-磷酸醛缩酶活性。参与细胞凋亡信号通路;脂肪酸代谢过程;和鞘脂代谢过程。位于内质网。与 14 型肾病综合征有关。[由基因组资源联盟提供,2022 年 4 月]

Enables sphinganine-1-phosphate aldolase activity. Involved in apoptotic signaling pathway; fatty acid metabolic process; and sphingolipid metabolic process. Located in endoplasmic reticulum. Implicated in nephrotic syndrome type 14. [provided by Alliance of Genome Resources, Apr 2022]

SGPL1 基因产物(1)

mRNA Protein Name
NM_003901.4 NP_003892.2 sphingosine-1-phosphate lyase 1
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
21903422 GOA
enables sphinganine-1-phosphate aldolase activity IDA
IDA: 通过直接分析推断
14570870 GOA
enables sphinganine-1-phosphate aldolase activity IMP
IMP: 通过突变表型推断
28165339 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in apoptotic signaling pathway IDA
IDA: 通过直接分析推断
14570870 GOA
involved in ceramide metabolic process IDA
IDA: 通过直接分析推断
14570870 GOA
involved in fatty acid metabolic process IDA
IDA: 通过直接分析推断
24809814 GOA
involved in sphingolipid catabolic process IDA
IDA: 通过直接分析推断
24809814 GOA
involved in sphingolipid catabolic process IMP
IMP: 通过突变表型推断
28165339 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
14570870 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

SGPL1 蛋白结构

Pyridoxal_deC

Pyridoxal_deC: Pyridoxal-dependent decarboxylase conserved domain (196 - 451)

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

sphingosine-1-phosphate lyase 1

SP-lyase 1

SGPL1 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 SGPL1 O95470 RTP2 Homo sapiens Q5QGT7
Validated Y2H
32296183
Intra SGPL1 O95470 CCL4L1 Homo sapiens Q8NHW4
Validated Y2H
32296183
Intra SGPL1 O95470 SLC30A3 Homo sapiens Q99726
Validated Y2H
32296183
Intra SGPL1 O95470 TMEM242 Homo sapiens Q9NWH2
Validated Y2H
32296183
Intra SGPL1 O95470 PAQR5 Homo sapiens Q9NXK6
Y2H Prey Pooling
32296183
Intra SGPL1 O95470 PAQR5 Homo sapiens Q9NXK6
Validated Y2H
32296183
Intra SGPL1 O95470 PLPP4 Homo sapiens Q5VZY2
Y2H Array
32296183
Intra SGPL1 O95470 PLPP4 Homo sapiens Q5VZY2
Validated Y2H
32296183
Intra SGPL1 O95470 FA2H Homo sapiens Q7L5A8
Validated Y2H
32296183
Intra SGPL1 O95470 TMEM97 Homo sapiens Q5BJF2
Validated Y2H
32296183
Intra SGPL1 O95470 FXYD3 Homo sapiens Q14802-3
Validated Y2H
32296183
Intra SGPL1 O95470 FAM177A1 Homo sapiens Q8N128-2
Validated Y2H
32296183
Intra SGPL1 O95470 BRICD5 Homo sapiens Q6PL45-2
Validated Y2H
32296183
Intra SGPL1 O95470 CLDN19 Homo sapiens Q8N6F1-2
Validated Y2H
32296183
Intra SGPL1 O95470 RNASE10 Homo sapiens Q5GAN6
Validated Y2H
32296183
Intra SGPL1 O95470 MMD2 Homo sapiens Q8IY49-2
Validated Y2H
32296183
Intra SGPL1 O95470 EFNA5 Homo sapiens P52803
Validated Y2H
32296183
Intra SGPL1 O95470 MARCHF5 Homo sapiens Q9NX47
Validated Y2H
32296183
Intra SGPL1 O95470 SCAMP5 Homo sapiens Q8TAC9
Validated Y2H
32296183
Intra SGPL1 O95470 TMEM176A Homo sapiens Q96HP8
Validated Y2H
32296183
Intra SGPL1 O95470 AQP3 Homo sapiens Q92482
Validated Y2H
32296183
Intra SGPL1 O95470 MFSD6 Homo sapiens Q6ZSS7
Validated Y2H
32296183
Intra SGPL1 O95470 PLP2 Homo sapiens Q04941
Validated Y2H
32296183
Intra SGPL1 O95470 BCL2L2 Homo sapiens Q92843
Validated Y2H
32296183
Intra SGPL1 O95470 ERG28 Homo sapiens Q9UKR5
Validated Y2H
32296183
Intra SGPL1 O95470 HMOX2 Homo sapiens P30519
Validated Y2H
32296183
Intra SGPL1 O95470 STX8 Homo sapiens Q9UNK0
Validated Y2H
32296183
Intra SGPL1 O95470 STATH Homo sapiens P02808
Validated Y2H
32296183
Intra SGPL1 O95470 STX4 Homo sapiens Q12846
Validated Y2H
32296183
Intra SGPL1 O95470 UNC50 Homo sapiens Q53HI1
Validated Y2H
32296183
Intra SGPL1 O95470 IFITM3 Homo sapiens Q01628
Validated Y2H
32296183
Intra SGPL1 O95470 MIP Homo sapiens P30301
Validated Y2H
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

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis

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

Niemann-Pick Disease, Type B

Niemann-Pick Disease Type B

Acid Sphingomyelinase Deficiency, Visceral Type

Asmd, Visceral Type

Niemann Pick Disease Type B

Chronic Visceral Acid Sphingomyelinase Deficiency

Chronic Visceral Asmd

Npd-B

Niemann-Pick Disease B

NPDB

Niemann-Pick Disease Adult Non-Neuronopathic Form

Niemann-Pick Disease Intermediate With Visceral Involvement And Rapid Progression

Niemann-Pick Disease Type E

Niemann-Pick Disease Type F

Niemann-Pick Disease Type I

Niemann-Pick Disease Visceral Form

Npb

Sphingomyelinase Deficiency

Sphingomyelin Lipidosis

Niemann-Picks Disease Type B

Niemann-Pick Disease, Type E

Niemann-Pick Diseases

Niemann-Pick Disease, Type A

Achalasia-Addisonianism-Alacrima Syndrome

Allgrove Syndrome

Triple-A Syndrome

Achalasia-Addisonianism-Alacrimia Syndrome

Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder

Triple A Syndrome

Aaa Syndrome

AAAS

Glucocorticoid Deficiency With Achalasia

Glucocorticoid Deficiency And Achalasia

Addisonian-Achalasia Syndrome

Hypoadrenalism With Achalasia

Alacrima-Achalasia-Addisonianism

Aaa

Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima

Achalasia Addisonianism Alacrimia Syndrome

Achalasia Alacrima Syndrome

Addisonian Achalasia Syndrome

Achalasia-Addisonian Syndrome

Achalasia-Alacrima Syndrome

2a Syndrome

3a Syndrome

4a Syndrome

Adrenal Insufficiency-Achalasia-Alacrima Syndrome

Double A Syndrome

Quaternary A Syndrome

Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima

Allgrove'S Syndrome

Adrenal Gland Hypofunction

Adrenal Cortical Hypofunction

Familial Glucocorticoid Deficiency

Glucocorticoid Deficiency

Acth Resistance

Adrenal Unresponsiveness To Acth

Hereditary Unresponsiveness To Adrenocorticotropic Hormone

Isolated Glucocorticoid Deficiency

Glucocorticoid Deficiency, Familial

Glucocorticoid Deficiency 1

Galloway-Mowat Syndrome

Galloway Mowat Syndrome

Galloway Syndrome

Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

Microcephaly Nephrosis Syndrome

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Nephrosis Neuronal Dysmigration Syndrome

Microcephaly-Hiatus Hernia-Nephrotic Syndrome

Nephrosis-Neuronal Dysmigration Syndrome

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 SGPL1 VGNC VGNC:46102
Bos taurus SGPL1 VGNC VGNC:34547
Macaca mulatta SGPL1 VGNC VGNC:77196
Felis catus SGPL1 VGNC VGNC:65083
Rattus norvegicus SGPL1 RGD RGD:628599
Mus musculus SGPL1 MGD MGI:1261415