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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 (Gremlin 1, DAN Family BMP Antagonist) is a Protein Coding gene. Diseases associated with GREM1 include Polyposis Syndrome, Hereditary Mixed, 1 and Hereditary Mixed Polyposis Syndrome. Among its related pathways are Signaling by BMP and TGF-beta signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include cytokine activity and BMP binding. An important paralog of this gene is GREM2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005125 | cytokine activity | IEA | -- |
GO:0005515 | protein binding | IPI | 16545136 |
GO:0016015 | morphogen activity | ISS | 9660951 |
GO:0030297 | transmembrane receptor protein tyrosine kinase activator activity | ISS | -- |
GO:0036122 | BMP binding | IDA,ISS | 9660951 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | IEA,NAS | 9660951 |
GO:0009986 | cell surface | IEA | -- |
GO:0062023 | colocalizes_with collagen-containing extracellular matrix | HDA | 28327460 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Angiogenesis (CST) | ||
2 | Wnt / Hedgehog / Notch | ||
3 | TGF-beta signaling pathway (KEGG) | ||
4 | Signaling by BMP | ||
5 | SMAD2/3 MH2 Domain Mutants in Cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000902 | cell morphogenesis | IDA | 16545136 |
GO:0001525 | angiogenesis | IEA | -- |
GO:0002042 | cell migration involved in sprouting angiogenesis | ISS | 9660951 |
GO:0002092 | positive regulation of receptor internalization | ISS | 9660951 |
GO:0002689 | negative regulation of leukocyte chemotaxis | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | · | 3d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||
SP2: | - | ||||||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GREM1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GREM1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GREM1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GREM1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Grem1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Grem1 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GREM1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | grem1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Cktsf1b1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100005728 30 |
|
||
grem1a 31 31 |
|
OneToMany | |||
GREM1 (2 of 3) 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007994 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | F35B12.10 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
824295 | Likely Benign: Hereditary cancer-predisposing syndrome | 32,731,074(+) | C/A | SYNONYMOUS_VARIANT | |
824475 | Likely Benign: Hereditary cancer-predisposing syndrome | 32,730,729(+) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
rs111262341 | Likely Benign: not specified | 32,730,793(+) | C/G | MISSENSE_VARIANT,INTRON_VARIANT | |
rs146429140 | Likely Benign: Hereditary cancer-predisposing syndrome | 32,720,217(+) | C/T | INTRON_VARIANT | |
rs1567113298 | Uncertain Significance: Premature ovarian insufficiency | 32,731,156(+) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4456n54 | CNV | gain | 21841781 |
esv2422296 | CNV | duplication | 17116639 |
esv33337 | CNV | gain+loss | 17666407 |
esv3892661 | CNV | gain | 25118596 |
nsv1052620 | CNV | gain | 25217958 |
nsv456785 | CNV | gain | 19166990 |
nsv483039 | CNV | gain | 15286789 |
nsv568913 | CNV | gain | 21841781 |
nsv568916 | CNV | loss | 21841781 |
nsv832961 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
polyposis syndrome, hereditary mixed, 1 |
|
|
hereditary mixed polyposis syndrome |
|
|
colorectal cancer |
|
|
sclerosteosis |
|
|
renal hypoplasia |
|
|