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SPPL2A - signal peptide peptidase like 2A Gene

Also Known as IMP3; PSL2; IMD86

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84888

About SPPL2A

Cytogenetic location: 15q21.2 Genomic coordinates (GRCh38): 15:50,702,266-50,765,706 (from NCBI)

This gene has 18 transcripts (splice variants), 194 orthologues, 4 paralogues and is associated with 1 phenotype. Ubiquitous expression in colon (RPKM 15.8), duodenum (RPKM 10.9) and 25 other tissues.

Summary

This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]

SPPL2A Products (1)

mRNA	Protein	Name
NM_032802.4	NP_116191.2	signal peptide peptidase-like 2A precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables aspartic endopeptidase activity, intramembrane cleaving	IDA IDA: Inferred from direct assay	2313285	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	15385547	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in membrane protein ectodomain proteolysis	IDA IDA: Inferred from direct assay	16829951	GOA
involved in membrane protein intracellular domain proteolysis	IDA IDA: Inferred from direct assay	16829951	GOA
involved in membrane protein intracellular domain proteolysis	IMP IMP: Inferred from mutant phenotype	16829952	GOA
involved in membrane protein proteolysis	IDA IDA: Inferred from direct assay	2313285	GOA
involved in regulation of immune response	IMP IMP: Inferred from mutant phenotype	16829952	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi-associated vesicle membrane	IDA IDA: Inferred from direct assay	17965014	GOA
located in cytoplasmic side of endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15385547	GOA
located in late endosome	IDA IDA: Inferred from direct assay	16829952	GOA
located in lumenal side of endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15385547	GOA
located in membrane	IDA IDA: Inferred from direct assay	2313285	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

SPPL2A Protein Structure

Peptidase_A22B

0
100
200
300
400
520 a.a.

Protein Preferred Names	Protein Names
signal peptide peptidase-like 2A	IMP-3

SPPL2A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SPPL2A	Q8TCT8	SGTA	Homo sapiens	O43765	Validated Y2H	25416956
Intra	SPPL2A	Q8TCT8	SGTA	Homo sapiens	O43765	Y2H Array	32296183
Intra	SPPL2A	Q8TCT8	SGTA	Homo sapiens	O43765	Y2H Prey Pooling	32296183
Intra	SPPL2A	Q8TCT8	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	SPPL2A	Q8TCT8	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	SPPL2A	Q8TCT8	WFS1	Homo sapiens	O76024	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Immunodeficiency 86	IMD86 Immunodeficiency 86, Mycobacteriosis, Autosomal Recessive Immunodeficiency 86, Mycobacteriosis
Cerebral Amyloid Angiopathy, Itm2b-Related, 1	Dementia, Familial British Fbd Presenile Dementia With Spastic Ataxia Familial British Dementia Abri Amyloidosis Cerebral Amyloid Angiopathy, British Type Itm2b-Related Cerebral Amyloid Angiopathy 1 Familial Dementia, British Type Cerebral Amyloid Angiopathy, Itm2b-Related 1 CAA-ITM2B1 Cerebral Amyloid Angiopathy British Type Dementia, Familial, British
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers

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 (3)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-111360	SPL-707	Inhibitor	99.64%	Unkown
HY-128356	SPL-410	Inhibitor	99.38%	Unkown
HY-RS13704	SPPL2A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SPPL2A	MGD	MGI:1913802
Felis catus	SPPL2A	VGNC	VGNC:80835
Canis familiaris	SPPL2A	VGNC	VGNC:46758
Bos taurus	SPPL2A	VGNC	VGNC:35234
Rattus norvegicus	SPPL2A	RGD	RGD:1563001
Others	SPPL2A	NCBI