ECM1 - extracellular matrix protein 1 Gene
Also Known as URBWD
生物種: Homo sapiens
About ECM1
This gene has 7 transcripts (splice variants), 210 orthologues and is associated with 4 phenotypes. Biased expression in esophagus (RPKM 332.0), gall bladder (RPKM 47.3) and 3 other tissues.
Summary
This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
ECM1 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001202858.2 | NP_001189787.1 | extracellular matrix protein 1 isoform 3 precursor |
| NM_004425.4 | NP_004416.2 | extracellular matrix protein 1 isoform 1 precursor |
| NM_022664.3 | NP_073155.2 | extracellular matrix protein 1 isoform 2 precursor |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables protease binding |
IPI
IPI: Inferred from physical interaction
|
16512877 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12604605 | GOA |
| Biological Process GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| involved in negative regulation of bone mineralization |
IDA
IDA: Inferred from direct assay
|
11165938 | GOA |
| involved in negative regulation of peptidase activity |
IDA
IDA: Inferred from direct assay
|
16512877 | GOA |
| involved in positive regulation of angiogenesis |
IDA
IDA: Inferred from direct assay
|
11292659 | GOA |
| involved in positive regulation of endothelial cell proliferation |
IDA
IDA: Inferred from direct assay
|
11292659 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| located in collagen-containing extracellular matrix |
IDA
IDA: Inferred from direct assay
|
20870722 | GOA |
ECM1 Protein Structure
ECM1: Extracellular matrix protein 1 (ECM1) (1 - 540)
- 0
- 100
- 200
- 300
- 400
- 500
- 540 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
extracellular matrix protein 1 |
|
ECM1 Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Intra
|
ECM1 | Q16610 | LCE2A | Homo sapiens | Q5TA79 | 32296183 | |
|
Intra
|
ECM1 | Q16610 | KRTAP9-3 | Homo sapiens | Q9BYQ3 | 32296183 | |
|
Intra
|
ECM1 | Q16610 | KRTAP5-3 | Homo sapiens | Q6L8H2 | 32296183 | |
|
Intra
|
ECM1 | Q16610 | GNE | Homo sapiens | Q9Y223-2 | 32296183 | |
|
Intra
|
ECM1 | Q16610 | SAMD11 | Homo sapiens | Q96NU1 | 32296183 | |
|
Intra
|
ECM1 | Q16610 | A1CF | Homo sapiens | Q9NQ94 | 32296183 | |
|
Intra
|
ECM1 | Q16610 | KLHL38 | Homo sapiens | Q2WGJ6 | 32296183 | |
|
Intra
|
ECM1 | Q16610 | DTX2 | Homo sapiens | Q86UW9 | 32296183 | |
|
Intra
|
ECM1 | Q16610 | UBQLN1 | Homo sapiens | Q9UMX0 | 32296183 | |
|
Intra
|
ECM1 | Q16610 | SGTB | Homo sapiens | Q96EQ0 | 32296183 | |
|
Intra
|
ECM1 | Q16610 | ENKD1 | Homo sapiens | Q9H0I2 | 32296183 | |
|
Intra
|
ECM1 | Q16610 | AIRIM | Homo sapiens | Q9NX04 | 32296183 | |
|
Intra
|
ECM1 | Q16610 | UBQLN2 | Homo sapiens | Q9UHD9 | 32296183 |
ECM1 抗体
| 製品番号 | 製品名 | アプリケーション | 反応性 |
|---|---|---|---|
| HY-P83042 | Extracellular Matrix Protein 1 Antibody (YA2787) | WB, IHC-F, IHC-P, ICC/IF, FC, IP | Human, Rat |
| HY-P83042A | Extracellular Matrix Protein 1 Antibody (YA2787)(PBS only) | WB, IHC-F, IHC-P, ICC/IF, FC, IP | Human, Rat |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Lipoid Proteinosis Of Urbach And Wiethe |
|
|
| Lichen Sclerosus Et Atrophicus |
|
|
| Balanitis Xerotica Obliterans |
|
|
| Urethral Syndrome |
|
|
| Doyne Honeycomb Retinal Dystrophy |
|
|
| Phimosis |
|
|
| Vulvar Dystrophy |
|
|
| Breast Cancer |
|
|
| Retinal Drusen |
|
|
| Brugada Syndrome 9 |
|
|
| Balanitis |
|
|
| Skin Disease |
|
|
| Inflammatory Bowel Disease |
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Felis catus | ECM1 | VGNC | VGNC:61711 |
| Rattus norvegicus | ECM1 | RGD | RGD:620357 |
| Bos taurus | ECM1 | VGNC | VGNC:28311 |
| Macaca mulatta | ECM1 | VGNC | VGNC:72151 |
| Mus musculus | ECM1 | MGD | MGI:103060 |
| Others | ECM1 | NCBI |