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    STRIT1 small transmembrane regulator of ion transport 1 [ Homo sapiens (human) ]

    Gene ID: 100507537, updated on 7-Apr-2024

    Summary

    Official Symbol
    STRIT1provided by HGNC
    Official Full Name
    small transmembrane regulator of ion transport 1provided by HGNC
    Primary source
    HGNC:HGNC:52297
    See related
    Ensembl:ENSG00000240045 MIM:616891; AllianceGenome:HGNC:52297
    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
    DWORF
    Summary
    Predicted to enable enzyme activator activity. Predicted to be involved in regulation of calcium ion transport and regulation of striated muscle contraction. Predicted to act upstream of or within positive regulation of ATPase-coupled calcium transmembrane transporter activity and positive regulation of calcium ion import. Predicted to be located in sarcoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in prostate (RPKM 12.1), esophagus (RPKM 5.3) and 4 other tissues See more
    Orthologs
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    Genomic context

    See STRIT1 in Genome Data Viewer
    Location:
    3q25.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (155290227..155293683, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (158064207..158067663, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (155008016..155011472, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12262 Neighboring gene membrane metalloendopeptidase Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:154842003-154842759 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:154842760-154843515 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:154896874-154897105 Neighboring gene Sharpr-MPRA regulatory region 4432 Neighboring gene MPRA-validated peak4871 silencer Neighboring gene long intergenic non-protein coding RNA 1487 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:154999620-155000162 Neighboring gene uncharacterized LOC105374172 Neighboring gene poly(A) binding protein cytoplasmic 1 pseudogene 10

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of calcium ion import into sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of ATPase-coupled calcium transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of slow-twitch skeletal muscle fiber contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in sarcoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    sarcoplasmic/endoplasmic reticulum calcium ATPase regulator DWORF
    Names
    SERCA regulator DWORF
    Sarcoplasmic/endoplasmic reticulum calcium ATPase regulator DWORF

    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_001352129.2NP_001339058.1  sarcoplasmic/endoplasmic reticulum calcium ATPase regulator DWORF

      Status: VALIDATED

      Source sequence(s)
      AC104831, BC015836
      Consensus CDS
      CCDS87158.1
      UniProtKB/Swiss-Prot
      A0A1B0GTW0, P0DN84
      Related
      ENSP00000489859.1, ENST00000489090.2
      Conserved Domains (1) summary
      cd20247
      Location:135
      DWORF; DWarf Open Reading Frame (DWORF)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      155290227..155293683 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      158064207..158067663 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)