Description: Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA. RefSeq Summary (NM_007190): This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]. Transcript (Including UTRs) Position: hg19 chr10:121,652,085-121,704,170 Size: 52,086 Total Exon Count: 19 Strand: + Coding Region Position: hg19 chr10:121,652,295-121,693,279 Size: 40,985 Coding Exon Count: 18
ID:S23IP_HUMAN DESCRIPTION: RecName: Full=SEC23-interacting protein; AltName: Full=p125; FUNCTION: Plays a role in the organization of endoplasmic reticulum exit sites. SUBUNIT: Interacts with SEC23A. SUBCELLULAR LOCATION: Cytoplasmic vesicle, COPII-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Endoplasmic reticulum (Probable). TISSUE SPECIFICITY: Ubiquitously expressed with stronger levels detected in heart, liver and skeletal muscle. SIMILARITY: Belongs to the PA-PLA1 family. SIMILARITY: Contains 1 DDHD domain. SIMILARITY: Contains 1 SAM (sterile alpha motif) domain. CAUTION: Although belonging to the PA-PL1 family, does not seem to have any phospholipase activity. SEQUENCE CAUTION: Sequence=AAP35401.1; Type=Frameshift; Positions=471;
C-Reactive Protein Emelia J Benjamin et al. BMC medical genetics 2007, Genome-wide association with select biomarker traits in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903293]
The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies.
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.
ModBase Predicted Comparative 3D Structure on Q9Y6Y8
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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.
Biological Process: GO:0006886 intracellular protein transport GO:0006888 ER to Golgi vesicle-mediated transport GO:0007030 Golgi organization GO:0048208 COPII vesicle coating