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    SRL sarcalumenin [ Homo sapiens (human) ]

    Gene ID: 6345, updated on 3-Apr-2024

    Summary

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    Official Symbol
    SRLprovided by HGNC
    Official Full Name
    sarcalumeninprovided by HGNC
    Primary source
    HGNC:HGNC:11295
    See related
    Ensembl:ENSG00000185739 MIM:604992; AllianceGenome:HGNC:11295
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SAR
    Summary
    Predicted to enable GTP binding activity. Predicted to be involved in endocytosis and endosomal transport. Predicted to act upstream of or within response to muscle activity involved in regulation of muscle adaptation and store-operated calcium entry. Predicted to be located in sarcoplasmic reticulum lumen and sarcoplasmic reticulum membrane. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in heart (RPKM 76.3), prostate (RPKM 4.3) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16p13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (4189374..4242080, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (4216710..4269414, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (4239375..4292081, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:4181341-4181842 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:4181843-4182342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4183414-4183954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4183955-4184494 Neighboring gene DBI pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4197155-4197686 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:4229160-4229362 Neighboring gene uncharacterized LOC105371062 Neighboring gene Sharpr-MPRA regulatory region 7928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7147 Neighboring gene long intergenic non-protein coding RNA 1569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4302672-4303294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7148 Neighboring gene uncharacterized LOC124903634 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4314566-4315209 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4315210-4315854 Neighboring gene transcription factor AP-4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Sarcoplasmic Reticulum Ca(2+) Buffer Proteins: A Focus on the Yet-To-Be-Explored Role of Sarcalumenin in Skeletal Muscle Health and Disease. Conte E, et al. Cells, 2023 Feb 24. PMID 36899851, Free PMC Article
    2. Molecular cloning and expression of cDNA encoding a lumenal calcium binding glycoprotein from sarcoplasmic reticulum. Leberer E, et al. Proc Natl Acad Sci U S A, 1989 Aug. PMID 2762314, Free PMC Article
    3. Identification of 4370 expressed sequence tags from a 3'-end-specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization. Lanfranchi G, et al. Genome Res, 1996 Jan. PMID 8681137
    4. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Arking DE, et al. Nat Genet, 2014 Aug. PMID 24952745, Free PMC Article
    5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sarcoplasmic Reticulum Ca[2+] Buffer Proteins: A Focus on the Yet-To-Be-Explored Role of Sarcalumenin in Skeletal Muscle Health and Disease.
      Title: Sarcoplasmic Reticulum Ca(2+) Buffer Proteins: A Focus on the Yet-To-Be-Explored Role of Sarcalumenin in Skeletal Muscle Health and Disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in sarcoplasmic reticulum lumen IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sarcoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    sarcalumenin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001098814.2 → NP_001092284.1  sarcalumenin isoform 1 precursor

      See identical proteins and their annotated locations for NP_001092284.1

      Status: VALIDATED

      Source sequence(s)
      AK056588, AL831973, AL832361, DA563862, DB149163, F26773
      Consensus CDS
      CCDS42113.1
      UniProtKB/Swiss-Prot
      B4DYT9, Q86TD4
      UniProtKB/TrEMBL
      B3KPP4
      Related
      ENSP00000382518.3, ENST00000399609.7
      Conserved Domains (2) summary
      cd09913
      Location:95 → 336
      EHD; Eps15 homology domain (EHD), C-terminal domain
      pfam16880
      Location:59 → 90
      EHD_N; N-terminal EH-domain containing protein

    2. NM_001323667.1 → NP_001310596.1  sarcalumenin isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC009171
      Consensus CDS
      CCDS81943.1
      UniProtKB/TrEMBL
      B3KPP4
      Conserved Domains (2) summary
      cd09913
      Location:53 → 294
      EHD; Eps15 homology domain (EHD), C-terminal domain
      pfam16880
      Location:17 → 48
      EHD_N; N-terminal EH-domain containing protein

    3. NM_001323668.1 → NP_001310597.1  sarcalumenin isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC009171
      Consensus CDS
      CCDS81943.1
      UniProtKB/TrEMBL
      B3KPP4
      Conserved Domains (2) summary
      cd09913
      Location:53 → 294
      EHD; Eps15 homology domain (EHD), C-terminal domain
      pfam16880
      Location:17 → 48
      EHD_N; N-terminal EH-domain containing protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      4189374..4242080 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023527.2 → XP_016879016.1  sarcalumenin isoform X1

    2. XM_047434447.1 → XP_047290403.1  sarcalumenin isoform X2

    3. XM_017023528.1 → XP_016879017.1  sarcalumenin isoform X2

      UniProtKB/TrEMBL
      B3KPP4
      Related
      ENSP00000440350.1, ENST00000537996.1
      Conserved Domains (2) summary
      cd09913
      Location:53 → 294
      EHD; Eps15 homology domain (EHD), C-terminal domain
      pfam16880
      Location:17 → 48
      EHD_N; N-terminal EH-domain containing protein

    4. XM_017023529.2 → XP_016879018.1  sarcalumenin isoform X2

      UniProtKB/TrEMBL
      B3KPP4
      Conserved Domains (2) summary
      cd09913
      Location:53 → 294
      EHD; Eps15 homology domain (EHD), C-terminal domain
      pfam16880
      Location:17 → 48
      EHD_N; N-terminal EH-domain containing protein

    5. XM_047434446.1 → XP_047290402.1  sarcalumenin isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      4216710..4269414 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313594.1 → XP_054169569.1  sarcalumenin isoform X1

    2. XM_054313595.1 → XP_054169570.1  sarcalumenin isoform X2

    3. XM_054313596.1 → XP_054169571.1  sarcalumenin isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86TD4.3 GenPept UniProtKB/Swiss-Prot:Q86TD4

    Gene LinkOut

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