2. Gene
  3. MAEA - macrophage erythroblast attacher, E3 ubiquitin ligase Gene

MAEA - macrophage erythroblast attacher, E3 ubiquitin ligase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：巨噬细胞成红细胞附着物，E3 泛素连接酶

种属: Homo sapiens

同用名: EMP; EMLP; GID9; PIG5; HLC-10; P44EMLP

基因 ID: 10296 | 基因类型: protein coding

关于 MAEA

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:1,289,891-1,340,137 (from NCBI)

This gene has 20 transcripts (splice variants), 205 orthologues and 2 paralogues. Ubiquitous expression in kidney (RPKM 10.3), spleen (RPKM 10.0) and 25 other tissues.

功能概要

该基因编码的蛋白质介导成红细胞与巨噬细胞的结合。这种附着促进成红细胞的终末成熟和去核，可能是通过抑制细胞凋亡。所编码的蛋白质是一种完整的膜蛋白，其 N 端位于细胞外侧，C 端位于细胞质侧。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 7 月]

This gene encodes a protein that mediates the attachment of erythroblasts to macrophages. This attachment promotes terminal maturation and enucleation of erythroblasts, presumably by suppressing Apoptosis. The encoded protein is an integral membrane protein with the N-terminus on the extracellular side and the C-terminus on the cytoplasmic side of the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

MAEA 基因产物(6)

mRNA Protein Name
NM_001017405.3 NP_001017405.1 E3 ubiquitin-protein transferase MAEA isoform 1
NM_001297430.2 NP_001284359.1 E3 ubiquitin-protein transferase MAEA isoform 3
NM_001297431.2 NP_001284360.1 E3 ubiquitin-protein transferase MAEA isoform 4
NM_001297432.2 NP_001284361.1 E3 ubiquitin-protein transferase MAEA isoform 5
NM_001297433.2 NP_001284362.1 E3 ubiquitin-protein transferase MAEA isoform 6
NM_005882.5 NP_005873.2 E3 ubiquitin-protein transferase MAEA isoform 2
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 actin binding IDA
IDA: 通过直接分析推断
16510120 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell adhesion IDA
IDA: 通过直接分析推断
9763581 GOA
involved in negative regulation of myeloid cell apoptotic process IDA
IDA: 通过直接分析推断
9763581 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in actomyosin contractile ring IDA
IDA: 通过直接分析推断
16510120 GOA
located in cytoskeleton IDA
IDA: 通过直接分析推断
16510120 GOA
located in nuclear matrix IDA
IDA: 通过直接分析推断
16510120 GOA
located in nucleoplasm IDA
IDA: 通过直接分析推断
24143168 GOA
located in nucleus IDA
IDA: 通过直接分析推断
17467196 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
9763581 GOA
located in spindle IDA
IDA: 通过直接分析推断
16510120 GOA
part of ubiquitin ligase complex IDA
IDA: 通过直接分析推断
29911972 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

MAEA 蛋白结构

CLTH

CLTH: CTLH/CRA C-terminal to LisH motif domain (160 - 300)

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

E3 ubiquitin-protein transferase MAEA

GID complex subunit 9, FYV10 homolog

关联疾病

疾病名称 别名
Schizophrenia 16

SCZD16

Schizophrenia Susceptibility Locus, Chromosome 7q36.3-Related

Chromosome 7q36.3 Duplication Syndrome, 362-Kb
Schizophrenia 14

Sczd14

Schizophrenia, Susceptibility To, 14

Schizophrenia Susceptibility Locus, Chromosome 2q32-Related
Retinitis Pigmentosa 42

RP42

Retinitis Pigmentosa-42

Retinitis Pigmentosa, Type 42
Hallucinogen Abuse
Alveolar Echinococcosis

Echinococcus Multilocularis Infection

Echinococcosis

Alveolococcosis

Multilocular Hydatid

Small Fox Tapeworm
Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria
Lissencephaly 1

LIS1

Classic Lissencephaly

Ils

Subcortical Laminar Heterotopia

Lissencephaly Due To Lis1 Mutation

Lissencephaly Sequence, Isolated

Lissencephaly, Classic

Pafah1b1-Related Lissencephaly

Classical Lissencephaly

Lissencephaly Type 1

Lissencephaly-1

Subcortical Band Heterotopia

Double Cortex

Lissencephaly Classic

Lissencephaly Sequence Isolated

Isolated Lissencephaly Sequence

Type 1 Lissencephaly

Lissencephaly Syndrome Type 1

SBH

Sclh

Lissencephaly, Type 1

Type I Lissencephaly
Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome

WHS

Chromosome 4p16.3 Deletion Syndrome

Wittwer Syndrome

4p- Syndrome

Pitt Syndrome

4p Deletion Syndrome

Distal Deletion 4p

Distal Monosomy 4p

Telomeric Deletion 4p

Prds

4p Syndrome

Chromosome 4p Syndrome

Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

Wolf Syndrome

Chromosome 4p Deletion Syndrome

Chromosome 4p Monosomy

Del Syndrome

Monosomy 4p

Partial Monosomy 4p

Chromosome 4 Short Arm Deletion
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07954 MAEA Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus MAEA MGD MGI:1891748
Rattus norvegicus MAEA RGD RGD:1309877
Canis familiaris MAEA VGNC VGNC:42918
Bos taurus MAEA VGNC VGNC:31135
Felis catus MAEA VGNC VGNC:63361
Macaca mulatta MAEA VGNC VGNC:74282
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