SRL - sarcalumenin Gene

Also Known as SAR

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6345

About SRL

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:4,189,374-4,242,080 (from NCBI)

This gene has 3 transcripts (splice variants), 272 orthologues and 10 paralogues. Biased expression in heart (RPKM 76.3), prostate (RPKM 4.3) and 1 other tissue.

Summary

Predicted to enable GTP binding activity. Predicted to be involved in endocytosis and endosomal transport. 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. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022]

SRL Products (3)

mRNA	Protein	Name
NM_001098814.2	NP_001092284.1	sarcalumenin isoform 1 precursor
NM_001323667.1	NP_001310596.1	sarcalumenin isoform 2
NM_001323668.1	NP_001310597.1	sarcalumenin isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SRL Protein Structure

Dynamin_N

0
100
200
300
400
473 a.a.

Protein Preferred Names	Protein Names
sarcalumenin

Related Diseases

Diseases	Alias
Malignant Hyperthermia	Anesthesia Related Hyperthermia Malignant Hyperpyrexia Due To Anesthesia Hyperpyrexia, Malignant Hyperthermia, Malignant Malignant Hyperpyrexia Mhs Malignant Fever
Hypotrichosis 1	HYPT1 Hhs Hts Hypotrichosis Simplex Hypotrichosis Simplex, Generalized, Hereditary Hereditary Generalized Hypotrichosis Simplex Generalized Hypothricosis Simplex Hypotrichosis Simplex Hereditary Hypotrichosis, Type 1
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Villous Adenocarcinoma
Vitreoretinal Degeneration, Snowflake Type	Snowflake Vitreoretinal Degeneration SVD Snowflake Degeneration In Hereditary Vitreoretinal Degeneration

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13768	SRL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SRL	MGD	MGI:2146620
Rattus norvegicus	SRL	RGD	RGD:1306564
Canis familiaris	SRL	VGNC	VGNC:54070
Felis catus	SRL	VGNC	VGNC:80684
Macaca mulatta	SRL	VGNC	VGNC:104757
Others	SRL	NCBI