GREM1 - gremlin 1, DAN family BMP antagonist Gene
Also Known as DRM; HMPS; MPSH; PIG2; CRAC1; CRCS4; DAND2; HMPS1; IHG-2; DUP15q; C15DUPq; GREMLIN; CKTSF1B1
Species: Homo sapiens
About GREM1
This gene has 4 transcripts (splice variants), 1 gene allele, 242 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in gall bladder (RPKM 205.9), appendix (RPKM 84.5) and 6 other tissues.
Summary
This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to relay the sonic Hedgehog (SHH) signal from the polarizing region to the apical ectodermal ridge during limb bud outgrowth. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
GREM1 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001191322.2 | NP_001178251.1 | gremlin-1 isoform 3 |
| NM_001191323.2 | NP_001178252.1 | gremlin-1 isoform 2 precursor |
| NM_001368719.1 | NP_001355648.1 | gremlin-1 isoform 1 precursor |
| NM_013372.7 | NP_037504.1 | gremlin-1 isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables BMP binding |
IDA
IDA: Inferred from direct assay
|
27036124 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16545136 | GOA |
| enables protein homodimerization activity |
IPI
IPI: Inferred from physical interaction
|
27036124 | GOA |
GREM1 Protein Structure
DAN: DAN domain (69 - 181)
- 0
- 100
- 184 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
gremlin-1 |
|
GREM1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
GREM1 | O60565 | KDR | Homo sapiens | P35968 | 20660291 | |
|
Intra
|
GREM1 | O60565 | KRTAP12-2 | Homo sapiens | P59991 | 32296183 | |
|
Intra
|
GREM1 | O60565 | KRTAP12-2 | Homo sapiens | P59991 | 32296183 | |
|
Intra
|
GREM1 | O60565 | KRTAP12-2 | Homo sapiens | P59991 | 32296183 | |
|
Intra
|
GREM1 | O60565 | YWHAH | Homo sapiens | Q04917 | 16545136 | |
|
Intra
|
GREM1 | O60565 | YWHAH | Homo sapiens | Q04917 | 16545136 | |
|
Intra
|
GREM1 | O60565 | YWHAH | Homo sapiens | Q04917 | 16545136 | |
|
Intra
|
GREM1 | O60565 | MDFI | Homo sapiens | Q99750 | 32296183 | |
|
Intra
|
GREM1 | O60565 | MDFI | Homo sapiens | Q99750 | 32296183 | |
|
Intra
|
GREM1 | O60565 | MDFI | Homo sapiens | Q99750 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Polyposis Syndrome, Hereditary Mixed, 1 |
|
|
| Hereditary Mixed Polyposis Syndrome |
|
|
| Familial Colorectal Cancer |
|
|
| Colorectal Adenoma |
|
|
| Sclerosteosis |
|
|
| Loeys-Dietz Syndrome |
|
|
| Synostosis |
|
|
| Polyposis Syndrome, Hereditary Mixed, 2 |
|
|
| Renal Fibrosis |
|
|
| Juvenile Polyposis Syndrome |
|
|
| Oesophagostomiasis |
|
|
| Syndactyly, Type Iv |
|
|
| Familial Adenomatous Polyposis 2 |
|
|
| Kidney Disease |
|
|
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
|
| Chromosome 2q35 Duplication Syndrome |
|
|
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
|
| Lipoma Of Colon |
|
|
| Large Intestine Lipoma |
|
|
| Renal Hypodysplasia/Aplasia 1 |
|
|
| Colorectal Cancer |
|
|
| Gastric Cancer |
|
|
| Lynch Syndrome |
|
|
| Cakut |
|
|
| Cowden Syndrome |
|
|
| Myopathy |
|
|
| Orofacial Cleft |
|
|
| Interstitial Lung Disease 2 |
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | GREM1 | RGD | RGD:2359 |
| Felis catus | GREM1 | VGNC | VGNC:62708 |
| Mus musculus | GREM1 | MGD | MGI:1344337 |
| Macaca mulatta | GREM1 | VGNC | VGNC:73199 |
| Canis familiaris | GREM1 | VGNC | VGNC:41474 |
| Bos taurus | GREM1 | VGNC | VGNC:29633 |
| Others | GREM1 | NCBI |