1. Gene
  2. MBOAT7 - membrane bound O-acyltransferase domain containing 7 Gene

MBOAT7 - membrane bound O-acyltransferase domain containing 7 Gene

中文名称:含膜结合的 O-酰基转移酶结构域 7

种属: Homo sapiens

同用名: BB1; LRC4; LENG4; LPIAT; LPLAT; MBOA7; MRT57; OACT7; LPIAT1; LPLAT11; hMBOA-7

基因 ID: 79143 | 基因类型: protein coding

关于 MBOAT7

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:54,173,415-54,189,580 (from NCBI)

This gene has 14 transcripts (splice variants), 1 gene allele, 185 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 19.3), adrenal (RPKM 15.7) and 25 other tissues.

功能概要

该基因编码具有酰基转移酶活性的膜结合 O-酰基转移酶家族成员。编码的蛋白质是一种溶血磷脂酰肌醇酰基转移酶,它对作为酰基供体的花生四烯酰辅酶 A 具有特异性。这种蛋白质参与磷脂的再酰化,作为称为 Land 循环的磷脂重塑途径的一部分。可变剪接导致多个转录本变体。[RefSeq 提供,2009 年 3 月]

This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have Acyltransferase activity. The encoded protein is a lysophosphatidylinositol Acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of Phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

MBOAT7 基因产物(4)

mRNA Protein Name
NM_001146056.3 NP_001139528.1 lysophospholipid acyltransferase 7 isoform 2
NM_001146082.3 NP_001139554.1 lysophospholipid acyltransferase 7 isoform 3
NM_001146083.3 NP_001139555.1 lysophospholipid acyltransferase 7 isoform 2
NM_024298.5 NP_077274.3 lysophospholipid acyltransferase 7 isoform 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 O-acyltransferase activity IDA
IDA: 通过直接分析推断
18772128 GOA
enables O-acyltransferase activity IMP
IMP: 通过突变表型推断
18094042 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21903422 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in phosphatidylcholine acyl-chain remodeling IDA
IDA: 通过直接分析推断
18772128 GOA
involved in phosphatidylinositol acyl-chain remodeling IDA
IDA: 通过直接分析推断
18772128 GOA
involved in phosphatidylinositol acyl-chain remodeling IMP
IMP: 通过突变表型推断
32253259 GOA
involved in phosphatidylinositol biosynthetic process IMP
IMP: 通过突变表型推断
18094042 GOA
involved in regulation of triglyceride metabolic process IMP
IMP: 通过突变表型推断
32253259 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
30959108 GOA
located in mitochondria-associated endoplasmic reticulum membrane contact site IDA
IDA: 通过直接分析推断
23510452 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

MBOAT7 蛋白结构

MBOAT

MBOAT: MBOAT, membrane-bound O-acyltransferase family (100 - 418)

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

lysophospholipid acyltransferase 7

1-acylglycerophosphatidylinositol O-acyltransferase

MBOAT7 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
种属间
MBOAT7 Q96N66 Unc93b1 Mus musculus Q8VCW4 21903422
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
Intellectual Developmental Disorder, Autosomal Recessive 57

MRT57

Autosomal Recessive Intellectual Developmental Disorder 57

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Fatty Liver Disease

Alcoholic Fatty Liver

Fatty Liver

Fatty Liver, Alcoholic

Fatty Change Of Liver

Hepatic Lipidosis

Steatosis Of Liver

Fatty Liver Alcoholic

Steatohepatitis

Etoh Fatty Liver

Etoh Fatty Liver Metamorphosis

Fatty Etoh Liver Necrosis

Non-Alcoholic Steatohepatitis

Nonalcoholic Steatohepatitis

Nash

Nash - [Non-Alcoholic Steatohepatitis]

Non-Alcoholic Steatohepatosis

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
Rattus norvegicus MBOAT7 RGD RGD:1306945
Mus musculus MBOAT7 MGD MGI:1924832
Felis catus MBOAT7 VGNC VGNC:63406
Canis familiaris MBOAT7 VGNC VGNC:43062
Bos taurus MBOAT7 VGNC VGNC:31289