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SRL sarcalumenin [ Homo sapiens (human) ]

Gene ID: 6345, updated on 2-Nov-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 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. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in heart (RPKM 76.3), prostate (RPKM 4.3) and 1 other tissue See more
Orthologs
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Genomic context

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See SRL in Genome Data Viewer
Location:
16p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (4189374..4242080, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (4216710..4269414, complement)
RS_2024_09 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

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

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
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in store-operated calcium entry IBA
Inferred from Biological aspect of Ancestor
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_2024_08

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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