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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SRL Gene

protein-coding   GIFtS: 44
GCID: GC16M004239

sarcalumenin

 Explore 8 diseases affiliated with
SRL via our new
 Human Malady Compendium 
Biological research products
for SRL
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Sarcalumenin1

External Ids:    HGNC: 112951   Entrez Gene: 63452   Ensembl: ENSG000001857397   OMIM: 6049925   UniProtKB: Q86TD43   

Export aliases for SRL gene to outside databases

Previous GC identifers: GC16U990054 GC16M004242 GC16M004182


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: SRCA_HUMAN, Q86TD4
Function: May be involved in the regulation of calcium transport




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SRL gene promoter:
         AML1a   Tal-1   p53   MyoD   E47   YY1   PPAR-gamma1   c-Myb   PPAR-gamma2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SRL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SRL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

SRL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SRL gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M004239:  view genomic region     (about GC identifiers)

Start:
4,239,375 bp from pter      End:
4,292,081 bp from pter
Size:
52,707 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SRCA_HUMAN, Q86TD4 (See protein sequence)
Recommended Name: Sarcalumenin precursor  
Size: 932 amino acids; 100788 Da
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;
Alternative splicing: 2 isoforms:  Q86TD4-1   Q86TD4-2   

Explore the universe of human proteins at neXtProt for SRL: NX_Q86TD4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86TD4

  • SRL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001092284.1  
    ENSEMBL proteins: 
     ENSP00000461179   ENSP00000382518   ENSP00000440350  

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    Uscn Proteins for SRL

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0033018sarcoplasmic reticulum lumen IEA--


    SRL for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SRL for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001401 Dynamin_GTPase

    Graphical View of Domain Structure for InterPro Entry Q86TD4

    ProtoNet protein and cluster: Q86TD4


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SRCA_HUMAN, Q86TD4
    Function: May be involved in the regulation of calcium transport

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    hsa-miR-345 hsa-miR-1197 hsa-miR-513a-5p hsa-miR-128 hsa-miR-3921 hsa-miR-4330 hsa-miR-497* hsa-miR-186*
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005525GTP binding IEA--


    SRL for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Srltm1Hta for SRL
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Srl):
     cardiovascular system  muscle 

    SRL for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SRL

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SRL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SRL

    1 HMDB Compound for SRL    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    4 Novoseek chemical compound relationships for SRL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ryanodine 56.1 2 10398759 (1), 12959958 (1)
    dihydropyridine 55.7 1 12959958 (1)
    calcium 41.1 11 14678011 (2), 15276652 (2), 12959958 (1), 16178054 (1) (see all 6)
    atp 11.2 2 8647283 (1)

    Search CenterWatch for drugs/clinical trials and news about SRL / SRCA 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for SRL gene: 
    NM_001098814.1  

    Unigene Cluster for SRL:

    Sarcalumenin
    Hs.10041  [show with all ESTs]
    Unigene Representative Sequence: BX647476
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000572111(uc002cvy.4) ENST00000399609(uc002cvz.4) ENST00000537996


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    hsa-miR-345 hsa-miR-1197 hsa-miR-513a-5p hsa-miR-128 hsa-miR-3921 hsa-miR-4330 hsa-miR-497* hsa-miR-186*
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    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    OriGene shRNA RFP: SRL
    OriGene siRNA: SRL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SRL
    Clone
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    Additional cDNA sequence: 

    AK056588.1 AK302601.1 AL831973.2 AL832361.1 BX647476.1 

    5 DOTS entries:

    DT.209634  DT.40260918  DT.100748234  DT.120703974  DT.92416631 

    24/40 AceView cDNA sequences (see all 40):

    AI685625 AA418481 F30239 F29975 BE219044 F32555 F31328 AK056588 
    BF055359 AI887906 F20632 AI217685 F26773 BM675369 BF842337 AA346042 
    AA993197 AW964205 BX647476 F20502 AL831973 AL832361 AA346041 AI341730 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SRL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTCCTTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    SRL expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeMesencephalic Ventricular ZoneNeural Tube
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SRL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SRL

    SOURCE GeneReport for Unigene cluster: Hs.10041
        SABiosciences Custom PCR Arrays for SRL
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRL

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SRL gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SRL1 sarcalumenin 82.48(n)
    88.3(a)
      396269  NM_205329.1  NP_990660.1 
    lizard
    (Anolis carolinensis)
    Reptilia SRL6
    --
    89(a)
    1 ↔ 1
    GL343856.1(76973-83036)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.331382 Xenopus laevis transcribed sequence with weak similarity more 78.27(n)    CF289376.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb80c092 wufb80c09 78.79(n)   323056  57043408 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG92971 CG9297 56.5(n)
    46.1(a)
      41688  NM_176497.1  NP_788674.1 


    ENSEMBL Gene Tree for SRL (if available)
    TreeFam Gene Tree for SRL (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SRL gene
    EHD12  EHD42  EPS15L12  ITSN12  EPS152  EHD32  ITSN22  EHD22  
    4 SIMAP similar genes for SRL using alignment to 4 protein entries:     SRCA_HUMAN (see all proteins):
    EHD3    EHD1    EHD4    EHD2

    SRL for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1330 NCBI SNPs in SRL are shown (see all 1330    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1826465121,2
    --4238878(+) AACGAC/TCTCTG 1 -- int10--------
    rs1174103771,2
    --4238939(+) AGTCAA/GGGACG 1 -- int11Minor allele frequency- G:0.01NA 120
    rs1872046131,2
    --4238976(+) CAAGCA/GGGAGG 1 -- int10--------
    rs1912424661,2
    --4239176(+) AGGACA/GCCACG 1 -- int10--------
    rs800986751,2
    F,--4239334(+) GATGAA/TGAGAG 1 -- int11Minor allele frequency- T:0.02WA 118
    rs1468589021,2
    --4239368(+) AAGCAC/TGCGGT 1 -- int10--------
    rs1405929251,2
    --4239397(+) CTTTAC/TTGAGA 1 -- ut310--------
    rs1838776941,2
    --4239440(+) AGGTTC/GTGCCA 1 -- ut310--------
    rs1456768821,2
    --4239675(+) ATGACG/TGAAAG 1 -- ut310--------
    rs1886448941,2
    --4239817(+) ACACAG/TTTGTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SRL (4239375 - 4292081 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for SRL
         4 CNVs: 3100 8810 72431 72435

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SRL for disorders           About GeneDecksing

    OMIM gene information: 604992    OMIM disorders: --

    8 diseases for SRL:    About MalaCards
    malignant hyperthermia    restless legs syndrome    malignant hyperthermia susceptibility    frey syndrome
    muscular dystrophy    eye disease    myopathy    thyroiditis

    1 Novoseek disease relationship for SRL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular dystrophies 50.8 1 14678011 (1)


    Export disorders for SRL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SRL gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with SRL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of cDNA encoding a lumenal calcium binding glycoprotein from sarcoplasmic reticulum. (PubMed id 2762314)1, 3 Leberer E....MacLennan D.H. (1989)
    2. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    5. Identification of 4370 expressed sequence tags from a 3'-end-specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization. (PubMed id 8681137)1 Lanfranchi G....Valle G. (1996)
    6. Drastic reduction of sarcalumenin in Dp427 (dystrophin of 427 kDa)-deficient fibres indicates that abnormal calcium handling plays a key role in muscular dystrophy. (PubMed id 14678011)9 Dowling P....Ohlendieck K. (2004)
    7. Drastic reduction in the luminal Ca2+ -binding proteins calsequestrin and sarcalumenin in dystrophin-deficient cardiac muscle. (PubMed id 15276652)9 Lohan J. and Ohlendieck K. (2004)
    8. Role of the eye muscles in thyroid eye disease: identification of the principal autoantigens. (PubMed id 9669297)9 Gunji K....Wall J.R. (1998)
    9. The identification of the phosphorylated 150/160-kDa proteins of sarcoplasmic reticulum, their kinase and their association with the ryanodine receptor. (PubMed id 8765099)9 Shoshan-Barmatz V....Heilmeyer L.M. (1996)
    10. Cardiac sarcalumenin: phosphorylation, comparison with the skeletal muscle sarcalumenin and modulation of ryanodine receptor. (PubMed id 10398759)9 Hadad N....Shoshan-Barmatz V. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6345 HGNC: 11295 AceView: SRL Ensembl:ENSG00000185739 euGenes: HUgn6345
    ECgene: SRL H-InvDB: SRL

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SRL Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SRL gene:
    Search GeneIP for patents involving SRL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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