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Aliases for SRL Gene

Aliases for SRL Gene

  • Sarcalumenin 2 3 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 Malignant Hyperthermia and Myopathy, Tubular Aggregate, 1. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is EHD1.

UniProtKB/Swiss-Prot for SRL Gene

  • May be involved in the regulation of calcium transport.

Additional gene information for SRL Gene

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

Genomics for SRL Gene

GeneHancer (GH) Regulatory Elements for SRL Gene

Promoters and enhancers for SRL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I004236 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 568.3 +2.2 2248 5.7 ATF4 USF1 BACH1 BCL6 TRIM28 SRL LINC01569 GC16M004240 GC16M004233
GH16I004211 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 24.5 +24.7 24736 11 HDGF PKNOX1 ATF1 FOXA2 YBX1 FEZF1 ZNF121 GLIS2 ATF7 FOS SRL ZNF597 ZNF200 UBN1 ZNF263 ALG1 ADCY9 CREBBP ZNF500 LINC01569
GH16I003960 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 16.6 +281.2 281153 1.8 BMI1 RAD21 YY1 ZNF335 ZNF121 GLIS2 ZNF366 EGR1 ZSCAN5C SCRT2 GC16M003959 SRL CREBBP ADCY9 PPL TNFRSF12A CORO7 LOC102724927
GH16I004205 Enhancer 1.1 Ensembl ENCODE dbSUPER 5.6 +33.6 33632 5.9 ZIC2 RARA YY1 CTBP1 EGR1 HNF4G NR2F6 L3MBTL2 NR2F1 REST GC16P004207 ADCY9 TRAP1 LINC01569 SRL PPL HMOX2 GC16P004232
GH16I004200 Enhancer 1.1 Ensembl ENCODE dbSUPER 0.3 +41.6 41604 0.8 ELF3 CTCF NFIB ARID4B ZNF48 RAD21 CC2D1A CTBP1 ARID2 ZNF143 GC16P004207 LOC105371062 SRL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SRL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SRL gene promoter:

Genomic Locations for SRL Gene

Genomic Locations for SRL Gene
chr16:4,189,374-4,242,080
(GRCh38/hg38)
Size:
52,707 bases
Orientation:
Minus strand
chr16:4,239,375-4,292,081
(GRCh37/hg19)

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

Post-translational modifications for SRL Gene

  • Glycosylation at isoforms=99, posLast=740740, and posLast=848848
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SRL Gene

Domains & Families for SRL Gene

Gene Families for SRL Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

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 :
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
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

Function for SRL Gene

Molecular function for SRL Gene

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

Phenotypes From GWAS Catalog for SRL Gene

Gene Ontology (GO) - Molecular Function for SRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with SRL: view

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

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SRL gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016529 sarcoplasmic reticulum IEA --
GO:0033018 sarcoplasmic reticulum lumen IEA --
genes like me logo Genes that share ontologies with SRL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SRL Gene

Pathways & Interactions for SRL Gene

No Data Available

Interacting Proteins for SRL Gene

Gene Ontology (GO) - Biological Process for SRL Gene

None

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: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved 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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for SRL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SRL Gene:

SRL

SOURCE GeneReport for Unigene cluster for SRL Gene:

Hs.10041

Evidence on tissue expression from TISSUES for SRL Gene

  • Muscle(4.6)
  • Heart(2.6)
genes like me logo Genes that share expression patterns with SRL: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 33
  • 99.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SRL 33 34
  • 90.35 (n)
rat
(Rattus norvegicus)
Mammalia Srl 33
  • 89.18 (n)
mouse
(Mus musculus)
Mammalia Srl 33 16 34
  • 88.64 (n)
cow
(Bos Taurus)
Mammalia SRL 34
  • 52 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SRL 34
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 17 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SRL 33 34
  • 83 (n)
lizard
(Anolis carolinensis)
Reptilia SRL 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia srl 33
  • 77.61 (n)
Str.1480 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.33138 33
zebrafish
(Danio rerio)
Actinopterygii srl 33 34
  • 74.96 (n)
wufb80c09 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002456 33
  • 55.39 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9297 34
  • 21 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rme-1 34
  • 16 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9298 34
  • 25 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7643 33
Species where no ortholog for SRL was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000162756 -- 4,208,799(-) T/C intron_variant
rs1000181349 -- 4,219,394(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000196951 -- 4,217,140(-) G/C intron_variant
rs1000223033 -- 4,204,696(-) C/A intron_variant
rs1000334291 -- 4,225,534(-) T/G genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv21490 CNV gain+loss 19812545
esv2671113 CNV deletion 23128226
esv2671997 CNV deletion 23128226
esv2750427 CNV deletion 23290073
esv2750428 CNV deletion 23290073
esv2751608 CNV gain 17911159
esv2760068 CNV loss 17122850
esv3332875 CNV duplication 20981092
esv3395441 CNV insertion 20981092
esv3553039 CNV deletion 23714750
esv3637690 CNV loss 21293372
esv3637691 CNV loss 21293372
esv3637692 CNV loss 21293372
esv3637693 CNV loss 21293372
nsv1046986 CNV gain 25217958
nsv1050839 CNV loss 25217958
nsv1146903 CNV deletion 26484159
nsv1149275 CNV duplication 26484159
nsv524305 CNV loss 19592680
nsv527866 CNV loss 19592680

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)

Additional Variant Information for SRL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRL

SNP Genotyping and Copy Number Assay Products

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

Disorders for SRL Gene

MalaCards: The human disease database

(2) MalaCards diseases for SRL Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
malignant hyperthermia
  • hyperpyrexia, malignant
myopathy, tubular aggregate, 1
  • tam1
- elite association - COSMIC cancer census association via MalaCards
Search SRL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 DH (Proceedings of the National Academy of Sciences of the United States of America 1989) 2 3 58
  2. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. (PMID: 24952745) Arking DE … Newton-Cheh C (Nature genetics 2014) 3 58
  3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3 58
  4. Factors controlling the activity of the SERCA2a pump in the normal and failing heart. (PMID: 19904717) Vandecaetsbeek I … Vangheluwe P (BioFactors (Oxford, England) 2009) 22 58
  5. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 58

Products for SRL Gene

Sources for SRL Gene

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