SMOC1
SPARC-related modular calcium-binding protein 1
Also known as: SMOC1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H4F8
- Gene
- SMOC1
- Ensembl
- ENSG00000198732
- Chromosome
- 14
- Canonical length
- 434 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted secreted proteins
- Subcellular location
- Plasma membrane
- Secretome location
- Secreted to extracellular matrix
OverviewNCBI Gene
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. [provided by RefSeq, Mar 2011]
Canonical amino-acid sequenceUniProt
434 residues, UniProt reviewed canonical sequence.
>Q9H4F8|SMOC1
1 MLPARCARLL TPHLLLVLVQ LSPARGHRTT GPRFLISDRD PQCNLHCSRT QPKPICASDG
61 RSYESMCEYQ RAKCRDPTLG VVHRGRCKDA GQSKCRLERA QALEQAKKPQ EAVFVPECGE
121 DGSFTQVQCH TYTGYCWCVT PDGKPISGSS VQNKTPVCSG SVTDKPLSQG NSGRKDDGSK
181 PTPTMETQPV FDGDEITAPT LWIKHLVIKD SKLNNTNIRN SEKVYSCDQE RQSALEEAQQ
241 NPREGIVIPE CAPGGLYKPV QCHQSTGYCW CVLVDTGRPL PGTSTRYVMP SCESDARAKT
301 TEADDPFKDR ELPGCPEGKK MEFITSLLDA LTTDMVQAIN SAAPTGGGRF SEPDPSHTLE
361 ERVVHWYFSQ LDSNSSNDIN KREMKPFKRY VKKKAKPKKC ARRFTDYCDL NKDKVISLPE
421 LKGCLGVSKE GRLVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SMOC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 63 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 63 nTPM
- liver: 58 nTPM
- amygdala: 45 nTPM
- midbrain: 44 nTPM
- hippocampal formation: 43 nTPM
- blood vessel: 38 nTPM
Single-cell type
- oligodendrocyte progenitor cells: 747 nCPM
- ependymal cells: 442 nCPM
- oligodendrocytes: 310 nCPM
- sertoli cells: 279 nCPM
- peritubular myoid cells: 230 nCPM
- pancreatic islet cells: 207 nCPM
Immune cell
- plasmacytoid DC: 1.3 nTPM
- myeloid DC: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- cerebellum: 86 nTPM
- white matter: 83 nTPM
- spinal cord: 62 nTPM
- midbrain: 57 nTPM
- medulla oblongata: 56 nTPM
- pons: 51 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SMOC1.
Disease | AllUniProt
Conditions SMOC1 is implicated in, by any mechanism.
- Ophthalmoacromelic syndrome (OAS) MIM:206920
Disease | GeneticClinVar
18 pathogenic / likely-pathogenic of 192 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Microphthalmia with limb anomalies
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.59
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 0.74
- DepMap mean gene effect
- -0.08
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell differentiation
- extracellular matrix organization
- eye development
- limb development
- regulation of osteoblast differentiation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Thyroglobulin type-1
- Kazal domain
- EF-hand domain pair
- EF-Hand 1, calcium-binding site
- SPARC/Testican, calcium-binding domain
- Kazal domain superfamily
- Thyroglobulin type-1 superfamily
- Developmental regulator and protease inhibitor
- Thyroglobulin type-1 repeat
- Kazal-type serine protease inhibitor domain
- Secreted protein acidic and rich in cysteine Ca binding region
- Thyroglobulin_1 repeat associated disordered domain
- SMOC-1, extracellular calcium-binding domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SMOC1 as an antibody target. Whether an autoantibody or antibody against SMOC1 could matter depends on whether native SMOC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SMOC1 is annotated as secreted, so native SMOC1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label SMOC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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