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Aliases for SRL Gene

Aliases for SRL Gene

  • Sarcalumenin 2 3 5

External Ids for SRL Gene

Previous GeneCards Identifiers for SRL Gene

  • GC16U990054
  • GC16M004239
  • GC16M004242
  • GC16M004182

Summaries for SRL Gene

GeneCards Summary for SRL Gene

SRL (Sarcalumenin) is a Protein Coding gene. Diseases associated with SRL include myopathy, tubular aggregate, 1. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is ITSN1.

UniProtKB/Swiss-Prot for SRL Gene

  • May be involved in the regulation of calcium transport.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SRL Gene

Genomics for SRL Gene

Regulatory Elements for SRL Gene

Genomic Location for SRL Gene

Chromosome:
16
Start:
4,189,374 bp from pter
End:
4,242,080 bp from pter
Size:
52,707 bases
Orientation:
Minus strand

Genomic View for SRL Gene

Genes around SRL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRL Gene

Proteins for SRL Gene

  • Protein details for SRL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86TD4-SRCA_HUMAN
    Recommended name:
    Sarcalumenin
    Protein Accession:
    Q86TD4

    Protein attributes for SRL Gene

    Size:
    932 amino acids
    Molecular mass:
    100788 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAD89901.1; Type=Frameshift; Positions=927; Evidence={ECO:0000305};

    Alternative splice isoforms for SRL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SRL Gene

Proteomics data for SRL Gene at MOPED

Post-translational modifications for SRL Gene

  • Glycosylation at Asn 99, Asn 740, and Asn 848
  • Modification sites at PhosphoSitePlus

Other Protein References for SRL Gene

No data available for DME Specific Peptides for SRL Gene

Domains & Families for SRL Gene

Protein Domains for SRL Gene

Suggested Antigen Peptide Sequences for SRL Gene

Graphical View of Domain Structure for InterPro Entry

Q86TD4

UniProtKB/Swiss-Prot:

SRCA_HUMAN :
  • Contains 1 dynamin-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
Domain:
  • Contains 1 dynamin-type G (guanine nucleotide-binding) domain.
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
genes like me logo Genes that share domains with SRL: view

No data available for Gene Families for SRL Gene

Function for SRL Gene

Molecular function for SRL Gene

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

Phenotypes for SRL Gene

genes like me logo Genes that share phenotypes with SRL: view

Animal Models for SRL Gene

MGI Knock Outs for SRL:

Animal Model Products

miRNA for SRL Gene

miRTarBase miRNAs that target SRL

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SRL Gene

Localization for SRL Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRL Gene

Sarcoplasmic reticulum lumen. Note=Associated through calcium with the membrane. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SRL Gene COMPARTMENTS Subcellular localization image for SRL gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for SRL Gene

Pathways & Interactions for SRL Gene

SuperPathways for SRL Gene

No Data Available

Interacting Proteins for SRL Gene

Gene Ontology (GO) - Biological Process for SRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014873 response to muscle activity involved in regulation of muscle adaptation IEA --
genes like me logo Genes that share ontologies with SRL: view

No data available for Pathways by source and SIGNOR curated interactions for SRL Gene

Drugs & Compounds for SRL Gene

(3) Drugs for SRL Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(1) Additional Compounds for SRL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SRL: view

Transcripts for SRL Gene

Unigene Clusters for SRL Gene

Sarcalumenin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SRL Gene

No ASD Table

Relevant External Links for SRL Gene

GeneLoc Exon Structure for
SRL
ECgene alternative splicing isoforms for
SRL

Expression for SRL Gene

mRNA expression in normal human tissues for SRL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SRL Gene

This gene is overexpressed in Muscle - Skeletal (x19.4), Heart - Left Ventricle (x18.9), and Heart - Atrial Appendage (x9.9).

Protein differential expression in normal tissues from HIPED for SRL Gene

This gene is overexpressed in Heart (36.6) and Tonsil (22.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SRL Gene



SOURCE GeneReport for Unigene cluster for SRL Gene Hs.10041

genes like me logo Genes that share expression patterns with SRL: view

Protein tissue co-expression partners for SRL Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for SRL Gene

Orthologs for SRL Gene

This gene was present in the common ancestor of animals.

Orthologs for SRL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SRL 36
  • 100 (a)
OneToOne
SRL 35
  • 99.77 (n)
  • 99.77 (a)
cow
(Bos Taurus)
Mammalia SRL 36
  • 52 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SRL 36
  • 51 (a)
OneToOne
SRL 35
  • 90.35 (n)
  • 96.71 (a)
mouse
(Mus musculus)
Mammalia Srl 16
Srl 36
  • 49 (a)
OneToOne
Srl 35
  • 88.64 (n)
  • 96.48 (a)
oppossum
(Monodelphis domestica)
Mammalia SRL 36
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 17 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Srl 35
  • 89.18 (n)
  • 96.25 (a)
chicken
(Gallus gallus)
Aves SRL 35
  • 83 (n)
  • 89.62 (a)
SRL 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SRL 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.33138 35
tropical clawed frog
(Silurana tropicalis)
Amphibia srl 35
  • 77.61 (n)
  • 88.55 (a)
Str.1480 35
zebrafish
(Danio rerio)
Actinopterygii srl 36
  • 79 (a)
OneToOne
srl 35
  • 74.96 (n)
  • 85.07 (a)
wufb80c09 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002456 35
  • 55.39 (n)
  • 48.01 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9297 36
  • 21 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rme-1 36
  • 16 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7643 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9298 36
  • 25 (a)
OneToOne
Species with no ortholog for SRL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SRL Gene

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

Paralogs for SRL Gene

Paralogs for SRL Gene

(4) SIMAP similar genes for SRL Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SRL: view

Variants for SRL Gene

Sequence variations from dbSNP and Humsavar for SRL Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs889806 -- 4,208,394(-) CGGTG(A/C/G)GGGGG intron-variant
rs889807 -- 4,208,172(-) TTATT(A/G)TAGAC intron-variant
rs736836 -- 4,235,077(+) CAGGG(A/G)TCGGA intron-variant
rs868301 -- 4,207,433(+) CGCGA(A/C/T)GTCAG intron-variant
rs868302 -- 4,207,685(+) CCCAA(A/G)CCCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SRL Gene

Variant ID Type Subtype PubMed ID
esv21490 CNV Gain+Loss 19812545
esv2751608 CNV Gain 17911159
dgv794e1 CNV Complex 17122850
esv2671113 CNV Deletion 23128226
esv2750427 CNV Deletion 23290073
nsv527866 CNV Loss 19592680
esv2750428 CNV Deletion 23290073
nsv524305 CNV Loss 19592680
esv2671997 CNV Deletion 23128226

Variation tolerance for SRL Gene

Residual Variation Intolerance Score: 8.07% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.39; 42.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SRL Gene

HapMap Linkage Disequilibrium report
SRL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SRL Gene

Disorders for SRL Gene

MalaCards: The human disease database

(1) MalaCards diseases for SRL Gene - From: DISEASES

Disorder Aliases PubMed IDs
myopathy, tubular aggregate, 1
  • tubular aggregate myopathy
- elite association - COSMIC cancer census association via MalaCards
Search SRL in MalaCards View complete list of genes associated with diseases

Relevant External Links for SRL

Genetic Association Database (GAD)
SRL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SRL
genes like me logo Genes that share disorders with SRL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SRL Gene

Publications for SRL Gene

  1. Molecular cloning and expression of cDNA encoding a lumenal calcium binding glycoprotein from sarcoplasmic reticulum. (PMID: 2762314) Leberer E. … MacLennan D.H. (Proc. Natl. Acad. Sci. U.S.A. 1989) 2 3 67
  2. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. (PMID: 24952745) Arking D.E. … Newton-Cheh C. (Nat. Genet. 2014) 3
  3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3
  4. Factors controlling the activity of the SERCA2a pump in the normal and failing heart. (PMID: 19904717) Vandecaetsbeek I. … Vangheluwe P. (Biofactors 2009) 23
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for SRL Gene

Sources for SRL Gene

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