STRIT1

protein-coding

small transmembrane regulator of ion transport 1

Gene summary

Predicted to enable enzyme activator activity. Predicted to be involved in positive regulation of calcium ion import into sarcoplasmic reticulum; regulation of ATPase-coupled calcium transmembrane transporter activity; and regulation of slow-twitch skeletal muscle fiber 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, Jun 2026]

MANE transcript

NM_001352129.2

Inheritance

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ClinVar variants

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Top phenotype

—

Max pathogenic AF

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Genomic locus

chr3:155,290,227-155,293,683

External References & Databases

Ensembl (ENSG00000240045)

NCBI Gene (100507537)

Transcript & Mutation Effects

hg38 • Region Span ~3.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to STRIT1 variants in ClinVar

0 Conditions Cataloged

No annotated ClinVar phenotypes.

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001352129.2	RefSeq	NP_001339058.1	2	MANE Select
ENST00000489090.2	Ensembl	ENSP00000489859.1	2	MANE Select
ENST00001046844.1	Ensembl	ENSP00000716661.1	2	Standard
ENST00001092729.1	Ensembl	ENSP00000762535.1	2	Standard