SMOC1 - SPARC related modular calcium binding 1 Gene

Homo sapiens

Also known as OAS

Gene ID: 64093 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23088713	GOA

Biological Process GO Annotation	Evidence	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13444	SMOC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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