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

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, Oct 2024]
Expression: Biased expression in prostate (RPKM 12.1), esophagus (RPKM 5.3) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q25.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (155290227..155293683, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (158064207..158067663, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (155008016..155011472, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inhibitory and stimulatory micropeptides preferentially bind to different conformations of the cardiac calcium pump.
Title: Inhibitory and stimulatory micropeptides preferentially bind to different conformations of the cardiac calcium pump.
Dwarf open reading frame (DWORF) is a direct activator of the sarcoplasmic reticulum calcium pump SERCA.
Title: Dwarf open reading frame (DWORF) is a direct activator of the sarcoplasmic reticulum calcium pump SERCA.
The transmembrane peptide DWORF activates SERCA2a via dual mechanisms.
Title: The transmembrane peptide DWORF activates SERCA2a via dual mechanisms.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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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)

NM_001352129.2 → NP_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:1 → 35

DWORF; DWarf Open Reading Frame (DWORF)