SRL - sarcalumenin Gene

Homo sapiens

Also known as SAR

Gene ID: 6345 | Gene type: protein coding

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

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

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