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Aliases for SMOC1 Gene

Aliases for SMOC1 Gene

  • SPARC Related Modular Calcium Binding 1 2 3 5
  • Secreted Modular Calcium-Binding Protein 1 3 4
  • SPARC-Related Modular Calcium-Binding Protein 1 3
  • SMOC-1 4
  • OAS 3

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 Anophthalmos With Limb Anomalies. 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 CIViC summary , 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

Enhancers for SMOC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G069995 1.9 FANTOM5 Ensembl ENCODE dbSUPER 24.8 +144.2 144235 6.7 PKNOX1 FEZF1 BRCA1 ZNF2 YY1 GLIS2 KLF7 FOS DEK ZNF263 SMOC1 SLC10A1 ERH TTC9 GC14M069988 GC14M070040
GH14G070018 1 Ensembl ENCODE dbSUPER 23.8 +164.8 164834 1.1 MAFF ZNF316 IRF1 WT1 MAFK SMOC1 ENSG00000221060 SLC10A1 GC14M070040 GC14M069988
GH14G070003 0.9 ENCODE dbSUPER 25 +148.3 148348 0.2 MAZ ZNF362 PPARG ATF2 HNF1A ZNF366 NCOR1 PATZ1 HNF4A SP7 SMOC1 SLC10A1 GC14M069988 GC14M070040
GH14G069878 1 ENCODE 16.7 +25.7 25732 2.1 PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF48 YY1 SLC30A9 GLIS2 KLF7 SMOC1 RPL7AP6
GH14G070004 1.2 ENCODE dbSUPER 13.1 +151.3 151322 1.5 PKNOX1 FOXA2 MLX ARID4B DMAP1 ZNF48 YY1 SP5 JUNB PPARG SMOC1 SLC8A3 GC14M069988 GC14M070040
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SMOC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SMOC1 Gene

Chromosome:
14
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

Genes around SMOC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMOC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for SMOC1 Gene

  • Glycosylated.
  • Glycosylation at isoforms=237, isoforms=2172, Asn214, isoforms=2300, Thr301, Ser351, and Asn374
  • Modification sites at PhosphoSitePlus

Other Protein References for SMOC1 Gene

No data available for DME Specific Peptides for SMOC1 Gene

Domains & Families for SMOC1 Gene

Gene Families for SMOC1 Gene

Suggested Antigen Peptide Sequences for SMOC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SMOC1: view
genes like me logo Genes that share phenotypes with SMOC1: view

Human Phenotype Ontology for SMOC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SMOC1 Gene

MGI Knock Outs for SMOC1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SMOC1

CRISPR Products

miRNA for SMOC1 Gene

miRTarBase miRNAs that target SMOC1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005604 basement membrane IEA --
genes like me logo Genes that share ontologies with SMOC1: view

Pathways & Interactions 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:0007275 multicellular organism development IEA --
GO:0030154 cell differentiation IEA --
GO:0045667 regulation of osteoblast differentiation IMP 20359165
genes like me logo Genes that share ontologies with SMOC1: view

No data available for Pathways by source and SIGNOR curated interactions for SMOC1 Gene

Drugs & Compounds for SMOC1 Gene

No Compound Related Data Available

Transcripts for SMOC1 Gene

Unigene Clusters for SMOC1 Gene

SPARC related modular calcium binding 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x4.9).

Protein differential expression in normal tissues from HIPED for SMOC1 Gene

This gene is overexpressed in Testis (31.9), Bone marrow mesenchymal stem cell (8.9), and Ovary (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SMOC1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SMOC1 Gene:

SMOC1

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.

Evidence on tissue expression from TISSUES for SMOC1 Gene

  • Nervous system(4.8)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SMOC1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeleton
Organs:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with SMOC1: view

Primer Products

No data available for Protein tissue co-expression partners for SMOC1 Gene

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 34 35
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia SMOC1 34 35
  • 93.39 (n)
dog
(Canis familiaris)
Mammalia SMOC1 34 35
  • 93.01 (n)
rat
(Rattus norvegicus)
Mammalia Smoc1 34
  • 90.45 (n)
mouse
(Mus musculus)
Mammalia Smoc1 34 16 35
  • 90.15 (n)
oppossum
(Monodelphis domestica)
Mammalia SMOC1 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMOC1 35
  • 34 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMOC1 34 35
  • 81.97 (n)
lizard
(Anolis carolinensis)
Reptilia SMOC1 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smoc1 34
  • 76.25 (n)
zebrafish
(Danio rerio)
Actinopterygii SMOC1 (2 of 2) 35
  • 72 (a)
OneToMany
smoc1 34
  • 70.37 (n)
SMOC1 (1 of 2) 35
  • 66 (a)
OneToMany
Dr.14033 34
fruit fly
(Drosophila melanogaster)
Insecta magu 35
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T04F3.2 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
OneToMany
Species where no ortholog for SMOC1 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs776638586 Uncertain significance, Ophthalmoacromelic syndrome (OAS) [MIM:206920] 70,010,921(+) CAGGG(C/T)GCCCG reference, missense
VAR_069327 Ophthalmoacromelic syndrome (OAS) [MIM:206920]
VAR_069328 Ophthalmoacromelic syndrome (OAS) [MIM:206920]
rs376672665 Pathogenic 70,010,807(+) CCCAG(A/C/T)AGAAT reference, missense
rs863223317 Pathogenic 69,994,481(+) TTCAG(A/G)TAAAT splice-donor-variant

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

Variant ID Type Subtype PubMed ID
dgv266e201 CNV deletion 23290073
esv2405310 CNV deletion 18987734
esv2658279 CNV deletion 23128226
esv2748822 CNV deletion 23290073
esv2748823 CNV deletion 23290073
esv2748824 CNV deletion 23290073
esv2748825 CNV deletion 23290073
esv2748826 CNV deletion 23290073
esv2748827 CNV deletion 23290073
esv2748828 CNV deletion 23290073
esv2748831 CNV deletion 23290073
esv3581278 CNV loss 25503493
esv3634846 CNV loss 21293372
esv3634847 CNV loss 21293372
esv3634849 CNV loss 21293372
nsv1070642 CNV deletion 25765185
nsv1134386 CNV deletion 24896259
nsv1143753 CNV deletion 24896259
nsv1337 CNV insertion 18451855
nsv456336 CNV gain 19166990
nsv523796 CNV loss 19592680
nsv565007 CNV gain 21841781
nsv817638 CNV gain 17921354
nsv832824 CNV gain 17160897
nsv976351 CNV duplication 23825009

Variation tolerance for SMOC1 Gene

Residual Variation Intolerance Score: 29.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.75; 46.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMOC1 Gene

Human Gene Mutation Database (HGMD)
SMOC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMOC1

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

Disorders for SMOC1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for SMOC1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microphthalmia with limb anomalies
  • anophthalmia-syndactyly syndrome
anophthalmos with limb anomalies
  • ophthalmoacromelic syndrome
anophthalmia/microphthalmia
microphthalmia
  • microphthalmos
simultanagnosia
- elite association - COSMIC cancer census association via MalaCards
Search SMOC1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for SMOC1

Genetic Association Database (GAD)
SMOC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMOC1
genes like me logo Genes that share disorders with SMOC1: view

No data available for Genatlas for SMOC1 Gene

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 64
  2. Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. (PMID: 21750680) Rainger J. … Fitzpatrick D.R. (PLoS Genet. 2011) 3 4 64
  3. 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 64
  4. Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. (PMID: 21194680) Abouzeid H. … Schorderet D.F. (Am. J. Hum. Genet. 2011) 3 4 64
  5. 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 64

Products for SMOC1 Gene

Sources for SMOC1 Gene

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