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SRL sarcalumenin [ Homo sapiens (human) ]

Gene ID: 6345, updated on 23-Nov-2021

Summary

Official Symbol
SRLprovided by HGNC
Official Full Name
sarcalumeninprovided by HGNC
Primary source
HGNC:HGNC:11295
See related
Ensembl:ENSG00000185739 MIM:604992
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
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

See SRL in Genome Data Viewer
Location:
16p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (4189374..4242253, complement)
105.20201022 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 DBI pseudogene 3 Neighboring gene uncharacterized LOC105371062 Neighboring gene Sharpr-MPRA regulatory region 7928 Neighboring gene long intergenic non-protein coding RNA 1569 Neighboring gene putative uncharacterized protein encoded by LINC00596

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Phenotypes

Associated conditions

Description Tests
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in endosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in sarcoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
 
located_in sarcoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 

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_001098814.2NP_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
    Q86TD4
    UniProtKB/TrEMBL
    B3KPP4
    Related
    ENSP00000382518.3, ENST00000399609.7
    Conserved Domains (2) summary
    cd09913
    Location:95336
    EHD; Eps15 homology domain (EHD), C-terminal domain
    pfam16880
    Location:5990
    EHD_N; N-terminal EH-domain containing protein
  2. NM_001323667.1NP_001310596.1  sarcalumenin isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC009171
    Consensus CDS
    CCDS81943.1
    UniProtKB/TrEMBL
    B4DYT9
    Conserved Domains (2) summary
    cd09913
    Location:53294
    EHD; Eps15 homology domain (EHD), C-terminal domain
    pfam16880
    Location:1748
    EHD_N; N-terminal EH-domain containing protein
  3. NM_001323668.1NP_001310597.1  sarcalumenin isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC009171
    Consensus CDS
    CCDS81943.1
    UniProtKB/TrEMBL
    B4DYT9
    Conserved Domains (2) summary
    cd09913
    Location:53294
    EHD; Eps15 homology domain (EHD), C-terminal domain
    pfam16880
    Location:1748
    EHD_N; N-terminal EH-domain containing protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    4189374..4242253 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023527.1XP_016879016.1  sarcalumenin isoform X1

  2. XM_017023528.1XP_016879017.1  sarcalumenin isoform X2

    UniProtKB/TrEMBL
    B4DYT9
    Related
    ENSP00000440350.1, ENST00000537996.1
    Conserved Domains (2) summary
    cd09913
    Location:53294
    EHD; Eps15 homology domain (EHD), C-terminal domain
    pfam16880
    Location:1748
    EHD_N; N-terminal EH-domain containing protein
  3. XM_017023529.1XP_016879018.1  sarcalumenin isoform X2

    UniProtKB/TrEMBL
    B4DYT9
    Conserved Domains (2) summary
    cd09913
    Location:53294
    EHD; Eps15 homology domain (EHD), C-terminal domain
    pfam16880
    Location:1748
    EHD_N; N-terminal EH-domain containing protein
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