1. Gene
  2. TMED1 - transmembrane p24 trafficking protein 1 Gene

TMED1 - transmembrane p24 trafficking protein 1 Gene

中文名称:跨膜 p24 运输蛋白 1

种属: Homo sapiens

同用名: Tp24; p24g1; Il1rl1l; IL1RL1LG

基因 ID: 11018 | 基因类型: protein coding

关于 TMED1

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:10,832,067-10,836,212 (from NCBI)

This gene has 7 transcripts (splice variants), 256 orthologues and 8 paralogues. Ubiquitous expression in placenta (RPKM 10.9), kidney (RPKM 10.9) and 25 other tissues.

功能概要

该基因属于 TMED (跨膜 emp24 结构域) 蛋白家族,参与蛋白质的囊泡运输。由该基因编码的蛋白质通过其与白细胞介素 1 受体样 1 (IL1RL1) 的相互作用得到鉴定,并可能在先天免疫中发挥作用。这种蛋白质与其他白细胞介素 1 配体没有任何相似性。可变剪接导致该基因的多个转录变体。[RefSeq 提供,2013 年 7 月]

This gene belongs to the TMED (transmembrane emp24 domain-containing) protein family, which is involved in the vesicular trafficking of proteins. The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1) and may play a role in innate immunity. This protein lacks any similarity to other interleukin 1 ligands. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

TMED1 基因产物(1)

mRNA Protein Name
NM_006858.4 NP_006849.1 transmembrane emp24 domain-containing protein 1 precursor
基因本体论
  • 分子功能
  • 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
8621446 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
12237308 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
12237308 GOA
located in endoplasmic reticulum-Golgi intermediate compartment IDA
IDA: 通过直接分析推断
12237308 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

TMED1 蛋白结构

EMP24_GP25L

EMP24_GP25L: emp24/gp25L/p24 family/GOLD (34 - 220)

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

transmembrane emp24 domain-containing protein 1

IL1RL1-binding protein

重组 TMED1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72445 TMED1 Protein, Human (171a.a, HEK293, Fc) Q13445 (A24-N194) ≥95%
HY-P77240 TMED1 Protein, Human (HEK293, His) Q13445 (A24-N194) ≥95%

关联疾病

疾病名称 别名
Anemia, Congenital Dyserythropoietic, Type Iiia

Congenital Dyserythropoietic Anemia, Type Iii

Cdan3

Congenital Dyserythropoietic Anemia Type Iii

Cda Iii

Congenital Dyserythropoietic Anemia Type 3

CDAN3A

Dyserythropoietic Anemia, Congenital, Type Iiia

Cda, Type Iiia

Anemia, Congenital Dyserythropoietic, Type Iii

Anemia With Multinucleated Erythroblasts

Cda Type 3

Cda Type Iii

Dyserythropoietic Anemia, Congenital Type 3

Cda, Type Iii

Erythroreticulosis, Hereditary Benign

Anaemia With Multinucleated Erythroblasts

Congenital Dyserythropoietic Anaemia Type 3

Congenital Dyserythropoietic Anaemia Type Iii

Hereditary Benign Erythroreticulosis

Anemia, Congenital Dyserythropoietic, 3a

Anemia With Multinucleated Erythroblasts Erythroreticulosis, Hereditary Benign

Cystoisosporiasis

Isosporiasis

Infection By Isospora Belli And Isospora Hominis

Isosporosis

Infection By Isospora Belli Or Isospora Hominis

Isospora Belli Or Hominis Infection

Coccidial Infestation

Coccidiosis

Coccidial Dysentery

Intestinal Coccidiosis Nos

Anemia, Congenital Dyserythropoietic, Type Iv

CDAN4

Congenital Dyserythropoietic Anemia Type Iv

Congenital Dyserythropoietic Anemia Type 4

Cda Iv

Cda Due To Klf1 Mutation

Cda Type 4

Cda Type Iv

Congenital Dyserythropoietic Anemia Due To Klf1 Mutation

Cda, Type Iv

Dyserythropoietic Anemia, Congenital, Type Iv

Congenital Dyserythropoietic Anaemia Due To Klf1 Mutation

Congenital Dyserythropoietic Anaemia Type 4

Congenital Dyserythropoietic Anaemia Type Iv

Anemia, Congenital Dyserythropoietic, 4

Anemia, Dyserythropoietic Congenital, Type Iv

Anemia, Dyserythropoietic, Congenital, Type Iv

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

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 TMED1 RGD RGD:1311679
Macaca mulatta TMED1 VGNC VGNC:79071
Bos taurus TMED1 VGNC VGNC:35934
Felis catus TMED1 VGNC VGNC:80736
Canis familiaris TMED1 VGNC VGNC:47436
Mus musculus TMED1 MGD MGI:106201
Others TMED1 NCBI