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Aliases for SRL Gene

Aliases for SRL Gene

  • Sarcalumenin 2 3 4 5
  • SAR 3

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

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
GH16J004252 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 600.4 -11.5 -11520 2 ZNF652 SP1 CC2D1A ZFX CTCF MNT NKRF MLLT1 ZNF121 POLR2A LINC01569 GC16M004244 LOC105371063 SRL CREBBP ZNF500 ZNF263 ENSG00000261938 ZNF597 ZNF75A
GH16J004230 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 617.9 +5.4 5419 12.1 AHR REST USF1 TRIM28 ZNF26 BCL6 GLIS1 BACH1 SRL ENSG00000261938 ZNF263 ZNF500 LINC01569 ZNF75A ADCY9 CREBBP GC16M004233 GC16P004232
GH16J004211 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 24.5 +24.7 24736 11 MTA3 ELF3 ZNF121 MCM2 SP7 CREB1 GLIS2 PKNOX1 ZBTB8A YBX1 ZNF263 SRL ZNF500 CREBBP ZNF597 ZNF75A ENSG00000261938 ZNF200 UBN1 ALG1
GH16J003960 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 16.6 +281.2 281153 1.8 ZNF121 ZSCAN21 SP7 PRDM1 GLIS2 CREB1 IKZF1 RNF2 ZNF600 PRDM10 GC16M003959 SRL CREBBP ADCY9 PPL TNFRSF12A CORO7 ENSG00000262185
GH16J004205 Enhancer 1.1 Ensembl ENCODE dbSUPER 5.6 +33.6 33632 5.9 SP1 PRDM1 EGR1 CREB1 ZIC2 CTBP1 GABPA YY1 ZNF768 HNF4A GC16P004207 ADCY9 TRAP1 LINC01569 SRL PPL HMOX2 GC16P004232
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SRL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SRL gene promoter:
  • AML1a
  • c-Myb
  • E47
  • MyoD
  • p53
  • PPAR-gamma1
  • PPAR-gamma2
  • Tal-1
  • YY1

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)
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
    Secondary Accessions:
    • B4DYT9

    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=2848, posLast=9999, and posLast=740740
  • 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

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51402, highly similar to Sarcalumenin (B4DYT9_HUMAN)
  • Sarcalumenin (SRCA_HUMAN)

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:
  • Srl Srl<tm1Hta>

Animal Model Products

CRISPR Products

miRNA for SRL Gene

miRTarBase miRNAs that target SRL

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRL

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 4
plasma membrane 1
extracellular 1
mitochondrion 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

PathCards logo

SuperPathways 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 7611

(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

mRNA/cDNA for SRL Gene

Unigene Clusters for SRL Gene

Sarcalumenin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRL

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 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

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 35 34
  • 99.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SRL 35 34
  • 90.35 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Srl 34
  • 89.18 (n)
mouse
(Mus musculus)
Mammalia Srl 17 35 34
  • 88.64 (n)
cow
(Bos Taurus)
Mammalia SRL 35
  • 52 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SRL 35
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 17 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SRL 35 34
  • 83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SRL 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia srl 34
  • 77.61 (n)
Str.1480 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.33138 34
zebrafish
(Danio rerio)
Actinopterygii srl 35 34
  • 74.96 (n)
OneToOne
wufb80c09 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002456 34
  • 55.39 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9297 35
  • 21 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rme-1 35
  • 16 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9298 35
  • 25 (a)
OneToOne
Cin.7643 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7643 34
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)
Aminode:
Evolutionary constrained regions (ECRs) for SRL: view image

Paralogs for SRL Gene

Paralogs for SRL Gene

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

  • SRCA_HUMAN
  • B4DYT9_HUMAN
  • I3L4D6_HUMAN
  • L8E8M1_HUMAN
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
  • tam
- 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. 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
  3. 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
  4. 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
  5. Factors controlling the activity of the SERCA2a pump in the normal and failing heart. (PMID: 19904717) Vandecaetsbeek I … Vangheluwe P (BioFactors (Oxford, England) 2009) 23 58

Products for SRL Gene

Sources for SRL Gene

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