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Aliases for SMOC1 Gene

Aliases for SMOC1 Gene

  • SPARC Related Modular Calcium Binding 1 2 3
  • Secreted Modular Calcium-Binding Protein 1 3 4
  • OAS 3 6
  • SPARC-Related Modular Calcium-Binding Protein 1 3
  • SMOC-1 4

External Ids for SMOC1 Gene

Previous GeneCards Identifiers for SMOC1 Gene

  • GC14P067851
  • GC14P064142
  • GC14P068336
  • GC14P069415
  • GC14P070346
  • GC14P050514

Summaries for SMOC1 Gene

Entrez Gene Summary for SMOC1 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]

GeneCards Summary for SMOC1 Gene

SMOC1 (SPARC Related Modular Calcium Binding 1) is a Protein Coding gene. Diseases associated with SMOC1 include microphthalmia with limb anomalies and microphthalmia. GO annotations related to this gene include calcium ion binding and extracellular matrix binding. An important paralog of this gene is SMOC2.

UniProtKB/Swiss-Prot for SMOC1 Gene

  • Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMOC1 Gene

Genomics for SMOC1 Gene

Regulatory Elements for SMOC1 Gene

Genomic Location for SMOC1 Gene

Start:
69,854,131 bp from pter
End:
70,032,366 bp from pter
Size:
178,236 bases
Orientation:
Plus strand

Genomic View for SMOC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMOC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMOC1 Gene

Proteins for SMOC1 Gene

  • Protein details for SMOC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4F8-SMOC1_HUMAN
    Recommended name:
    SPARC-related modular calcium-binding protein 1
    Protein Accession:
    Q9H4F8
    Secondary Accessions:
    • A8K1S3
    • B2R7P5
    • Q96F78

    Protein attributes for SMOC1 Gene

    Size:
    434 amino acids
    Molecular mass:
    48163 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SMOC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMOC1 Gene

Proteomics data for SMOC1 Gene at MOPED

Post-translational modifications for SMOC1 Gene

  • Glycosylated.
  • Glycosylation at Ser37, Thr163, Ser168, Ser172, Asn214, Thr300, Thr301, Ser351, and Asn374
  • Modification sites at PhosphoSitePlus

Other Protein References for SMOC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SMOC1 Gene

Domains for SMOC1 Gene

Protein Domains for SMOC1 Gene

Suggested Antigen Peptide Sequences for SMOC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H4F8

UniProtKB/Swiss-Prot:

SMOC1_HUMAN :
  • Q9H4F8
Domain:
  • Contains 2 EF-hand domains.
  • Contains 1 Kazal-like domain.
  • Contains 2 thyroglobulin type-1 domains.
genes like me logo Genes that share domains with SMOC1: view

No data available for Gene Families for SMOC1 Gene

Function for SMOC1 Gene

Molecular function for SMOC1 Gene

UniProtKB/Swiss-Prot Function: Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation.

Gene Ontology (GO) - Molecular Function for SMOC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 23088713
GO:0050840 extracellular matrix binding IEA --
genes like me logo Genes that share ontologies with SMOC1: view
genes like me logo Genes that share phenotypes with SMOC1: view

Animal Model Products

CRISPR Products

miRNA for SMOC1 Gene

miRTarBase miRNAs that target SMOC1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMOC1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SMOC1 Gene

Localization for SMOC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMOC1 Gene

Secreted, extracellular space, extracellular matrix, basement membrane. Note=In or around the basement membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMOC1 Gene COMPARTMENTS Subcellular localization image for SMOC1 gene
Compartment Confidence
extracellular 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SMOC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix --
GO:0005604 basement membrane IEA --
genes like me logo Genes that share ontologies with SMOC1: view

Pathways for SMOC1 Gene

SuperPathways for SMOC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SMOC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001654 eye development IMP 21194678
GO:0007165 signal transduction IEA --
GO:0010811 positive regulation of cell-substrate adhesion IEA --
GO:0030154 cell differentiation IEA --
GO:0030198 extracellular matrix organization IEA --
genes like me logo Genes that share ontologies with SMOC1: view

No data available for Pathways by source for SMOC1 Gene

Transcripts for SMOC1 Gene

Unigene Clusters for SMOC1 Gene

SPARC related modular calcium binding 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMOC1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMOC1 Gene

No ASD Table

Relevant External Links for SMOC1 Gene

GeneLoc Exon Structure for
SMOC1
ECgene alternative splicing isoforms for
SMOC1

Expression for SMOC1 Gene

mRNA expression in normal human tissues for SMOC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SMOC1 Gene

This gene is overexpressed in Liver (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SMOC1 Gene

SOURCE GeneReport for Unigene cluster for SMOC1 Gene Hs.497349

mRNA Expression by UniProt/SwissProt for SMOC1 Gene

Q9H4F8-SMOC1_HUMAN
Tissue specificity: Widely expressed in many tissues with a strongest signal in ovary. No expression in spleen.
genes like me logo Genes that share expressions with SMOC1: view

In Situ Assay Products

Orthologs for SMOC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SMOC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMOC1 35
  • 99.54 (n)
  • 99.77 (a)
SMOC1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMOC1 35
  • 93.39 (n)
  • 96.31 (a)
SMOC1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMOC1 35
  • 93.01 (n)
  • 97 (a)
SMOC1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smoc1 35
  • 90.15 (n)
  • 96.07 (a)
Smoc1 16
Smoc1 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMOC1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMOC1 36
  • 34 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smoc1 35
  • 90.45 (n)
  • 95.38 (a)
chicken
(Gallus gallus)
Aves SMOC1 35
  • 81.97 (n)
  • 89.9 (a)
SMOC1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMOC1 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smoc1 35
  • 76.25 (n)
  • 86.01 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.14033 35
smoc1 35
  • 70.37 (n)
  • 75 (a)
SMOC1 (1 of 2) 36
  • 66 (a)
OneToMany
SMOC1 (2 of 2) 36
  • 72 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta magu 36
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T04F3.2 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToMany
Species with no ortholog for SMOC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMOC1 Gene

ENSEMBL:
Gene Tree for SMOC1 (if available)
TreeFam:
Gene Tree for SMOC1 (if available)

Paralogs for SMOC1 Gene

Paralogs for SMOC1 Gene

Selected SIMAP similar genes for SMOC1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SMOC1: view

Variants for SMOC1 Gene

Sequence variations from dbSNP and Humsavar for SMOC1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs61305 -- 69,993,314(-) AACCT(C/T)CTGCA intron-variant
rs170566 -- 69,946,665(+) TGAGC(A/G)ACTCC intron-variant
rs170567 -- 69,939,833(-) CAAAG(A/G)GGAAA intron-variant
rs170568 -- 69,937,619(+) CCTTG(C/T)CTGAG intron-variant
rs170569 -- 69,991,534(-) TTTCA(C/T)CAGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMOC1 Gene

Variant ID Type Subtype PubMed ID
nsv456336 CNV Gain 19166990
nsv832824 CNV Gain 17160897
esv2658279 CNV Deletion 23128226
nsv523796 CNV Loss 19592680
nsv1337 CNV Insertion 18451855
esv2748822 CNV Deletion 23290073
esv2748823 CNV Deletion 23290073
esv2748824 CNV Deletion 23290073
esv2748825 CNV Deletion 23290073
esv2748826 CNV Deletion 23290073
esv2748827 CNV Deletion 23290073
esv2405310 CNV Deletion 18987734
esv2748828 CNV Deletion 23290073
dgv293e201 CNV Deletion 23290073
esv2748831 CNV Deletion 23290073
nsv817638 CNV Gain 17921354

Relevant External Links for SMOC1 Gene

HapMap Linkage Disequilibrium report
SMOC1
Human Gene Mutation Database (HGMD)
SMOC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMOC1 Gene

Disorders for SMOC1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for SMOC1 Gene including...

Search for SMOC1 Gene in MalaCards »

(1) OMIM Diseases for SMOC1 Gene (608488)

UniProtKB/Swiss-Prot

SMOC1_HUMAN
  • Ophthalmoacromelic syndrome (OAS) [MIM:206920]: 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. {ECO:0000269 PubMed:21194678, ECO:0000269 PubMed:21194680, ECO:0000269 PubMed:21750680, ECO:0000269 PubMed:23646827}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for SMOC1 Gene

Relevant External Links for SMOC1

Genetic Association Database (GAD)
SMOC1
genes like me logo Genes that share disorders with SMOC1: view

Publications for SMOC1 Gene

  1. Characterization of SMOC-1, a novel modular calcium-binding protein in basement membranes. (PMID: 12130637) Vannahme C. … Hartmann U. (J. Biol. Chem. 2002) 2 3 4
  2. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R. … Weissenbach J. (Nature 2003) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Secretome analysis of human BMSCs and identification of SMOC1 as an important ECM protein in osteoblast differentiation. (PMID: 20359165) Choi Y.A. … Park E.K. (J. Proteome Res. 2010) 3 4
  5. SMOC1 is essential for ocular and limb development in humans and mice. (PMID: 21194678) Okada I. … Saitsu H. (Am. J. Hum. Genet. 2011) 3 4

Products for SMOC1 Gene

Sources for SMOC1 Gene

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