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The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this protein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
SPP1 (Secreted Phosphoprotein 1) is a Protein Coding gene. Diseases associated with SPP1 include Pediatric Systemic Lupus Erythematosus and Urolithiasis. Among its related pathways are ERK Signaling and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include cytokine activity and extracellular matrix binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005125 | cytokine activity | IEA | -- |
GO:0005178 | integrin binding | IPI | 25839998 |
GO:0005515 | protein binding | IPI | 16189514 |
GO:0050840 | extracellular matrix binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IBA,IDA | 15516325 |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0005794 | Golgi apparatus | IDA | -- |
GO:0031982 | vesicle | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
|
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
|
2 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
3 | Toll-like Receptor Signaling Pathway | ||
4 | ECM-receptor interaction | ||
5 | Focal Adhesion |
.61
|
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001503 | ossification | IEA | -- |
GO:0001649 | osteoblast differentiation | IBA | 21873635 |
GO:0006710 | androgen catabolic process | IDA | 26482249 |
GO:0006954 | inflammatory response | IEA | -- |
GO:0007155 | cell adhesion | IDA | 25839998 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||
SP6: | - | - | - | - |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SPP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SPP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SPP1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Spp1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Spp1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SPP1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SPP1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs146552179 | Likely Benign: not provided | 87,981,552(+) |
C/A NM_001040058.2(SPP1):c.294C>A (p.Asp98Glu) |
MISSENSE | |
rs1578104553 | Likely Benign: not provided | 87,982,890(+) |
C/G NM_001040058.2(SPP1):c.939C>G (p.Val313=) |
SYNONYMOUS | |
rs34076181 | Benign: not provided | 87,982,686(+) |
A/G NM_001040058.2(SPP1):c.735A>G (p.Leu245=) |
SYNONYMOUS | |
rs376158660 | Likely Benign: not provided | 87,981,496(+) |
G/A NM_001040058.2(SPP1):c.238G>A (p.Glu80Lys) |
MISSENSE | |
rs4660 | -. Benign: not provided | 87,982,853(+) |
p.Arg301HisG/A |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2665331 | CNV | deletion | 23128226 |
esv3893976 | CNV | loss | 25118596 |
nsv7364 | OTHER | inversion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pediatric systemic lupus erythematosus |
|
|
urolithiasis |
|
|
dentin dysplasia |
|
|
dentinogenesis imperfecta |
|
|
calcinosis |
|
|