Human Gene SRI (ENST00000265729.7_10) from GENCODE V47lift37
  Description: sorcin, transcript variant 1 (from RefSeq NM_003130.4)
Gencode Transcript: ENST00000265729.7_10
Gencode Gene: ENSG00000075142.14_11
Transcript (Including UTRs)
   Position: hg19 chr7:87,834,430-87,849,353 Size: 14,924 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr7:87,835,793-87,849,341 Size: 13,549 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:87,834,430-87,849,353)mRNA (may differ from genome)Protein (198 aa)
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BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SORCN_HUMAN
DESCRIPTION: RecName: Full=Sorcin; AltName: Full=22 kDa protein; AltName: Full=CP-22; Short=CP22; AltName: Full=V19;
FUNCTION: Calcium-binding protein that modulates excitation- contraction coupling in the heart. Contributes to calcium homeostasis in the heart sarcoplasmic reticulum. Modulates the activity of RYR2 calcium channels.
SUBUNIT: Homodimer. Interacts with GCA, RYR2 and ANXA7.
INTERACTION: P40763:STAT3; NbExp=2; IntAct=EBI-750459, EBI-518675;
SUBCELLULAR LOCATION: Cytoplasm. Sarcoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side. Note=Relocates to the sarcoplasmic reticulum membrane in response to elevated calcium levels.
TISSUE SPECIFICITY: Detected in cardiac myocytes.
MISCELLANEOUS: This protein is encoded by an amplified gene in multidrug-resistant cells.
MISCELLANEOUS: This protein has been shown to bind calcium with high affinity.
SIMILARITY: Contains 4 EF-hand domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SRI
Diseases sorted by gene-association score: interstitial myocarditis (11), apical myocardial infarction (11), overhydrated hereditary stomatocytosis (9), charcot-marie-tooth disease, axonal, type 2l (6), hereditary spherocytosis (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 71.41 RPKM in Colon - Transverse
Total median expression: 1461.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -275.901363-0.202 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd

Pfam Domains:
PF13202 - EF hand
PF13405 - EF-hand domain
PF13833 - EF-hand domain pair

SCOP Domains:
47473 - EF-hand

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1JUO - X-ray MuPIT 2JC2 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P30626
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002020 protease binding
GO:0004198 calcium-dependent cysteine-type endopeptidase activity
GO:0005102 receptor binding
GO:0005246 calcium channel regulator activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0042802 identical protein binding
GO:0044325 ion channel binding
GO:0046872 metal ion binding
GO:0046982 protein heterodimerization activity
GO:0070491 repressing transcription factor binding

Biological Process:
GO:0001508 action potential
GO:0006508 proteolysis
GO:0006816 calcium ion transport
GO:0006880 intracellular sequestering of iron ion
GO:0006942 regulation of striated muscle contraction
GO:0007165 signal transduction
GO:0007507 heart development
GO:0007517 muscle organ development
GO:0008016 regulation of heart contraction
GO:0010459 negative regulation of heart rate
GO:0010649 regulation of cell communication by electrical coupling
GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus
GO:0042994 cytoplasmic sequestering of transcription factor
GO:0051281 positive regulation of release of sequestered calcium ion into cytosol
GO:0051924 regulation of calcium ion transport
GO:0055118 negative regulation of cardiac muscle contraction
GO:0060315 negative regulation of ryanodine-sensitive calcium-release channel activity
GO:0086004 regulation of cardiac muscle cell contraction
GO:1901077 regulation of relaxation of muscle
GO:1901841 regulation of high voltage-gated calcium channel activity
GO:1901844 regulation of cell communication by electrical coupling involved in cardiac conduction
GO:2000678 negative regulation of transcription regulatory region DNA binding

Cellular Component:
GO:0005622 intracellular
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005789 endoplasmic reticulum membrane
GO:0005790 smooth endoplasmic reticulum
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016529 sarcoplasmic reticulum
GO:0030018 Z disc
GO:0030315 T-tubule
GO:0030424 axon
GO:0031982 vesicle
GO:0033017 sarcoplasmic reticulum membrane
GO:0043679 axon terminus
GO:0044326 dendritic spine neck
GO:0070062 extracellular exosome
GO:0042584 chromaffin granule membrane


-  Descriptions from all associated GenBank mRNAs
  AL117616 - Homo sapiens mRNA; cDNA DKFZp564H1964 (from clone DKFZp564H1964).
AK295225 - Homo sapiens cDNA FLJ54267 complete cds, moderately similar to Sorcin.
M32886 - Human sorcin CP-22 mRNA, complete cds.
JD080519 - Sequence 61543 from Patent EP1572962.
L12387 - Human sorcin (SRI) mRNA, complete cds.
AK129770 - Homo sapiens cDNA FLJ26259 fis, clone DMC05161, highly similar to Sorcin (22 kDa protein).
BC011025 - Homo sapiens sorcin, mRNA (cDNA clone MGC:13597 IMAGE:4281626), complete cds.
KJ897600 - Synthetic construct Homo sapiens clone ccsbBroadEn_06994 SRI gene, encodes complete protein.
AB464235 - Synthetic construct DNA, clone: pF1KB8242, Homo sapiens SRI gene for sorcin, without stop codon, in Flexi system.
AK296601 - Homo sapiens cDNA FLJ60640 complete cds, highly similar to Sorcin.
AK310366 - Homo sapiens cDNA, FLJ17408.

-  Other Names for This Gene
  Alternate Gene Symbols: A8MTH6, B4DKK2, D6W5Q0, ENST00000265729.1, ENST00000265729.2, ENST00000265729.3, ENST00000265729.4, ENST00000265729.5, ENST00000265729.6, NM_003130, P30626, SORCN_HUMAN, uc317ids.1, uc317ids.2
UCSC ID: ENST00000265729.7_10
RefSeq Accession: NM_003130.4
Protein: P30626 (aka SORCN_HUMAN or SORC_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.