Human Gene SMOC1 (ENST00000361956.7) Description and Page Index
Description: Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA. (from RefSeq NM_001034852) RefSeq Summary (NM_001034852): 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]. Gencode Transcript: ENST00000361956.7 Gencode Gene: ENSG00000198732.10 Transcript (Including UTRs) Position: hg38 chr14:69,879,416-70,030,727 Size: 151,312 Total Exon Count: 12 Strand: + Coding Region Position: hg38 chr14:69,879,679-70,030,258 Size: 150,580 Coding Exon Count: 12
ID:SMOC1_HUMAN DESCRIPTION: RecName: Full=SPARC-related modular calcium-binding protein 1; AltName: Full=Secreted modular calcium-binding protein 1; Short=SMOC-1; Flags: Precursor; FUNCTION: Plays essential roles in both eye and limb development. Probale regulator of osteoblast differentiation. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane. Note=In or around the basement membrane. TISSUE SPECIFICITY: Widely expressed in many tissues with a strongest signal in ovary. No expression in spleen. PTM: Glycosylated. DISEASE: Defects in SMOC1 are the cause of ophthalmoacromelic syndrome (OAS) [MIM:206920]. A rare disorder presenting with anophthalmia or microphthalmia and limb anomalies. Limb malformations include fused 4th and 5th metacarpals and short 5th finger in hands, and olygodactyly 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. SIMILARITY: Contains 2 EF-hand domains. SIMILARITY: Contains 1 Kazal-like domain. SIMILARITY: Contains 2 thyroglobulin type-1 domains.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF07648 - Kazal-type serine protease inhibitor domain PF10591 - Secreted protein acidic and rich in cysteine Ca binding region PF00086 - Thyroglobulin type-1 repeat
ModBase Predicted Comparative 3D Structure on Q9H4F8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.