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SMOC1 - SPARC related modular calcium binding 1 Gene

Also Known as OAS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 64093

About SMOC1

Cytogenetic location: 14q24.2 Genomic coordinates (GRCh38): 14:69,879,416-70,032,366 (from NCBI)

This gene has 5 transcripts (splice variants), 203 orthologues, 1 paralogue and is associated with 4 phenotypes. Biased expression in brain (RPKM 47.3), testis (RPKM 23.8) and 6 other tissues.

Summary

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]

SMOC1 Products (2)

mRNA	Protein	Name
NM_001034852.3	NP_001030024.1	SPARC-related modular calcium-binding protein 1 isoform 1 precursor
NM_022137.6	NP_071420.1	SPARC-related modular calcium-binding protein 1 isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23088713	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in eye development	IMP IMP: Inferred from mutant phenotype	21194678	GOA
involved in limb development	IMP IMP: Inferred from mutant phenotype	21194678	GOA
involved in regulation of osteoblast differentiation	IMP IMP: Inferred from mutant phenotype	20359165	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SMOC1 Protein Structure

Kazal_2

Thyroglobulin_1

SPARC_Ca_bdg

0
100
200
300
400
434 a.a.

Protein Preferred Names	Protein Names
SPARC-related modular calcium-binding protein 1	secreted modular calcium-binding protein 1

SMOC1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SMOC1	Q9H4F8	KRTAP10-8	Homo sapiens	P60410	Validated Y2H	25416956
Intra	SMOC1	Q9H4F8	KRTAP10-8	Homo sapiens	P60410	Y2H Array	25416956
Intra	SMOC1	Q9H4F8	KRTAP10-8	Homo sapiens	P60410	Y2H Prey Pooling	25416956
Cross	SMOC1	Q9H4F8	Hoxa1	Mus musculus	P09022	Pull Down	23088713
Intra	SMOC1	Q9H4F8	TCF4	Homo sapiens	P15884	Y2H Array	25416956
Intra	SMOC1	Q9H4F8	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Array	31515488
Intra	SMOC1	Q9H4F8	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SMOC1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76649	SMOC1 Protein, Human (HEK293, His)	Q9H4F8-2/NP_001030024.1 (H27-V435)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Microphthalmia With Limb Anomalies	Waardenburg Anophthalmia Syndrome Ophthalmoacromelic Syndrome OAS MLA Anophthalmia-Syndactyly Anophthalmia-Syndactyly Syndrome Anophthalmos With Limb Anomalies Anophthalmia Waardenburg Syndrome Anophthalmos-Syndactyly Ophthalmo-Acromelic Syndrome Anophthalmia-Waardenburg Syndrome Anophthalmos-Limb Anomalies Syndrome Syndactyly-Anophthalmos Syndrome Microphthalmia, With Limb Anomalies
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Microphthalmia, Syndromic 3	MCOPS3 Aeg Syndrome Microphthalmia And Esophageal Atresia Syndrome Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome Anophthalmia-Esophageal-Genital Syndrome Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System Syndromic Microphthalmia 3 Sox2 Anophthalmia Syndrome Anophthalmia Clinical With Associated Anomalies Anophthalmia Esophageal Genital Syndrome Anophthalmia Microphthalmia Esophageal Atresia Syndromic Microphthalmia Type 3 Sox2-Related Eye Disorders Anophthalmia, Clinical, With Associated Anomalies Syndromic Microphthalmia, Type 3 Microphthalmia, Syndromic, 3 Anophthalmia/Microphthalmia-Esophageal Atresia Microphthalmia Syndromic, Type 3
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13444	SMOC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17993	Smoc1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24464	Smoc1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SMOC1	RGD	RGD:1303126
Felis catus	SMOC1	VGNC	VGNC:65498
Macaca mulatta	SMOC1	VGNC	VGNC:77745
Mus musculus	SMOC1	MGD	MGI:1929878
Canis familiaris	SMOC1	VGNC	VGNC:46566
Bos taurus	SMOC1	VGNC	VGNC:35026
Others	SMOC1	NCBI