Human Gene SRL (ENST00000399609.7_10) from GENCODE V47lift37
  Description: sarcalumenin, transcript variant 1 (from RefSeq NM_001098814.2)
Gencode Transcript: ENST00000399609.7_10
Gencode Gene: ENSG00000185739.13_11
Transcript (Including UTRs)
   Position: hg19 chr16:4,239,375-4,292,081 Size: 52,707 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr16:4,242,154-4,292,068 Size: 49,915 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:4,239,375-4,292,081)mRNA (may differ from genome)Protein (473 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SRCA_HUMAN
DESCRIPTION: RecName: Full=Sarcalumenin; Flags: Precursor;
FUNCTION: May be involved in the regulation of calcium transport.
SUBCELLULAR LOCATION: Sarcoplasmic reticulum lumen (By similarity). Note=Associated through calcium with the membrane (By similarity).
SEQUENCE CAUTION: Sequence=CAD89901.1; Type=Frameshift; Positions=927;

-  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: SRL
Diseases sorted by gene-association score: myopathy, tubular aggregate, 1 (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 122.89 RPKM in Heart - Left Ventricle
Total median expression: 362.20 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -1026.502779-0.369 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
IPR001401 - Dynamin_GTPase

Pfam Domains:
PF00350 - Dynamin family
PF01926 - 50S ribosome-binding GTPase
PF16880 - N-terminal EH-domain containing protein

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like

ModBase Predicted Comparative 3D Structure on Q86TD4
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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 Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005525 GTP binding

Cellular Component:
GO:0016529 sarcoplasmic reticulum
GO:0033018 sarcoplasmic reticulum lumen


-  Descriptions from all associated GenBank mRNAs
  AL832361 - Homo sapiens mRNA; cDNA DKFZp451M176 (from clone DKFZp451M176).
BX647476 - Homo sapiens mRNA; cDNA DKFZp451L166 (from clone DKFZp451L166).
AK056588 - Homo sapiens cDNA FLJ32026 fis, clone NTONG1000214, highly similar to SARCALUMENIN PRECURSOR.
AL831973 - Homo sapiens mRNA; cDNA DKFZp451C023 (from clone DKFZp451C023); complete cds.
JD206993 - Sequence 188017 from Patent EP1572962.
JD357964 - Sequence 338988 from Patent EP1572962.
JD154274 - Sequence 135298 from Patent EP1572962.
JD298473 - Sequence 279497 from Patent EP1572962.
JD084562 - Sequence 65586 from Patent EP1572962.
JD480229 - Sequence 461253 from Patent EP1572962.
JD049461 - Sequence 30485 from Patent EP1572962.
JD467227 - Sequence 448251 from Patent EP1572962.
JD400062 - Sequence 381086 from Patent EP1572962.
JD297667 - Sequence 278691 from Patent EP1572962.
JD327536 - Sequence 308560 from Patent EP1572962.
JD554855 - Sequence 535879 from Patent EP1572962.
JD192370 - Sequence 173394 from Patent EP1572962.
JD376891 - Sequence 357915 from Patent EP1572962.
JD091230 - Sequence 72254 from Patent EP1572962.
JD307409 - Sequence 288433 from Patent EP1572962.
JD039667 - Sequence 20691 from Patent EP1572962.
JD484771 - Sequence 465795 from Patent EP1572962.
JD338900 - Sequence 319924 from Patent EP1572962.
JD446449 - Sequence 427473 from Patent EP1572962.
JD167818 - Sequence 148842 from Patent EP1572962.
JD539053 - Sequence 520077 from Patent EP1572962.
JD339059 - Sequence 320083 from Patent EP1572962.
JD248527 - Sequence 229551 from Patent EP1572962.
JD180489 - Sequence 161513 from Patent EP1572962.
JD314349 - Sequence 295373 from Patent EP1572962.
JD274223 - Sequence 255247 from Patent EP1572962.
JD066142 - Sequence 47166 from Patent EP1572962.
JD066141 - Sequence 47165 from Patent EP1572962.
JD223409 - Sequence 204433 from Patent EP1572962.
JD377850 - Sequence 358874 from Patent EP1572962.
JD407722 - Sequence 388746 from Patent EP1572962.
JD045074 - Sequence 26098 from Patent EP1572962.
JD050318 - Sequence 31342 from Patent EP1572962.
JD167183 - Sequence 148207 from Patent EP1572962.
JD521921 - Sequence 502945 from Patent EP1572962.
JD214125 - Sequence 195149 from Patent EP1572962.
JD320411 - Sequence 301435 from Patent EP1572962.
JD348559 - Sequence 329583 from Patent EP1572962.
JD393736 - Sequence 374760 from Patent EP1572962.
JD128638 - Sequence 109662 from Patent EP1572962.
JD432069 - Sequence 413093 from Patent EP1572962.
JD376465 - Sequence 357489 from Patent EP1572962.
JD155315 - Sequence 136339 from Patent EP1572962.
JD124484 - Sequence 105508 from Patent EP1572962.
JD500239 - Sequence 481263 from Patent EP1572962.
JD341999 - Sequence 323023 from Patent EP1572962.
JD293447 - Sequence 274471 from Patent EP1572962.
JD328308 - Sequence 309332 from Patent EP1572962.
JD242573 - Sequence 223597 from Patent EP1572962.
JD365011 - Sequence 346035 from Patent EP1572962.
JD531808 - Sequence 512832 from Patent EP1572962.
JD345535 - Sequence 326559 from Patent EP1572962.
JD398641 - Sequence 379665 from Patent EP1572962.
JD070438 - Sequence 51462 from Patent EP1572962.
JD060220 - Sequence 41244 from Patent EP1572962.
JD413729 - Sequence 394753 from Patent EP1572962.
JD463087 - Sequence 444111 from Patent EP1572962.
JD337563 - Sequence 318587 from Patent EP1572962.
JD533826 - Sequence 514850 from Patent EP1572962.
JD371268 - Sequence 352292 from Patent EP1572962.
JD514431 - Sequence 495455 from Patent EP1572962.
JD414475 - Sequence 395499 from Patent EP1572962.
JD524694 - Sequence 505718 from Patent EP1572962.
JD155486 - Sequence 136510 from Patent EP1572962.
JD352470 - Sequence 333494 from Patent EP1572962.
JD527732 - Sequence 508756 from Patent EP1572962.
JD153350 - Sequence 134374 from Patent EP1572962.
JD198507 - Sequence 179531 from Patent EP1572962.
JD192466 - Sequence 173490 from Patent EP1572962.
JD123678 - Sequence 104702 from Patent EP1572962.
JD487448 - Sequence 468472 from Patent EP1572962.
JD496114 - Sequence 477138 from Patent EP1572962.
AK302601 - Homo sapiens cDNA FLJ51402 complete cds, highly similar to Sarcalumenin precursor.
JD492542 - Sequence 473566 from Patent EP1572962.
JD362559 - Sequence 343583 from Patent EP1572962.
JD532920 - Sequence 513944 from Patent EP1572962.
BC160181 - Synthetic construct Homo sapiens clone IMAGE:100064213, MGC:193296 sarcalumenin (SRL) mRNA, encodes complete protein.
JD114038 - Sequence 95062 from Patent EP1572962.
JD250592 - Sequence 231616 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B4DYT9, ENST00000399609.1, ENST00000399609.2, ENST00000399609.3, ENST00000399609.4, ENST00000399609.5, ENST00000399609.6, NM_001098814, Q86TD4, SRCA_HUMAN, uc319alb.1, uc319alb.2
UCSC ID: ENST00000399609.7_10
RefSeq Accession: NM_001098814.2
Protein: Q86TD4 (aka SRCA_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.