SMOC1
This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Full Name
SPARC Related Modular Calcium Binding 1
Function
Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation.
Biological Process
Biological Process cell differentiationIEA:UniProtKB-KW
Biological Process extracellular matrix organizationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process eye developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process limb developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process regulation of osteoblast differentiationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process extracellular matrix organizationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process eye developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process limb developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process regulation of osteoblast differentiationManual Assertion Based On ExperimentIMP:UniProtKB
Cellular Location
Secreted, extracellular space, extracellular matrix, basement membrane
In or around the basement membrane.
In or around the basement membrane.
Involvement in disease
Ophthalmoacromelic syndrome (OAS):
A rare disorder presenting with ocular anomalies, ranging from mild microphthalmia to true anophthalmia, and limb anomalies. Limb malformations include fused 4th and 5th metacarpals and short 5th finger in hands, and oligodactyly in foot (four toes). Most patients have bilateral anophthalmia/ microphthalmia, but unilateral abnormality is also noted. Other malformations are rare, but venous or vertebral anomaly was recognized each in single cases.
A rare disorder presenting with ocular anomalies, ranging from mild microphthalmia to true anophthalmia, and limb anomalies. Limb malformations include fused 4th and 5th metacarpals and short 5th finger in hands, and oligodactyly in foot (four toes). Most patients have bilateral anophthalmia/ microphthalmia, but unilateral abnormality is also noted. Other malformations are rare, but venous or vertebral anomaly was recognized each in single cases.
PTM
Glycosylated.
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Anti-SMOC1 antibodies
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Target: SMOC1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 8F10
Application*: WB, E
Target: SMOC1
Expressed Host: HEK293 Cells
Sequence: Amino Acid: 1-435
Tag: His Tag
Target: SMOC1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBXS-3456
Application*: E, IF, WB
Target: SMOC1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBXS-0570
Application*: E, IF, WB
Target: SMOC1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBXS-0569
Application*: E, IC, WB
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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