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SPPL2A signal peptide peptidase like 2A [ Homo sapiens (human) ]

Gene ID: 84888, updated on 15-Jun-2019

Summary

Official Symbol
SPPL2Aprovided by HGNC
Official Full Name
signal peptide peptidase like 2Aprovided by HGNC
Primary source
HGNC:HGNC:30227
See related
Ensembl:ENSG00000138600 MIM:608238
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IMP3; PSL2
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]
Expression
Ubiquitous expression in colon (RPKM 15.8), duodenum (RPKM 10.9) and 25 other tissues See more
Orthologs

Genomic context

See SPPL2A in Genome Data Viewer
Location:
15q21.2
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (50702266..50765713, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (50999730..51057910, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene transient receptor potential cation channel subfamily M member 7 Neighboring gene RNA, 7SL, cytoplasmic 354, pseudogene Neighboring gene HNF4 motif-containing MPRA enhancer 243 Neighboring gene ribosomal protein L32 pseudogene 30 Neighboring gene adaptor related protein complex 4 subunit epsilon 1 Neighboring gene DDB1 and CUL4 associated factor 13 pseudogene 3

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
NHGRI GWA Catalog
Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
NHGRI GWA Catalog

Pathways from BioSystems

  • Death Receptor Signalling, organism-specific biosystem (from REACTOME)
    Death Receptor Signalling, organism-specific biosystemThe death receptors, all cell-surface receptors, begin the process of caspase activation. The common feature of these type 1 transmembrane proteins is the "death-domain" a conserved cytoplasmic motif...
  • Regulation of TNFR1 signaling, organism-specific biosystem (from REACTOME)
    Regulation of TNFR1 signaling, organism-specific biosystemTumor necrosis factor-alpha (TNFalpha) is an inflammatory cytokine, that activates either cell survival (e.g.,inflammation, proliferation) or cell death upon association with TNF receptor 1 (TNFR1). ...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • TNF signaling, organism-specific biosystem (from REACTOME)
    TNF signaling, organism-specific biosystemThe inflammatory cytokine tumor necrosis factor alpha (TNF-alpha) is expressed in immune and nonimmune cell types including macrophages, T cells, mast cells, granulocytes, natural killer (NK) cells, ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aspartic endopeptidase activity, intramembrane cleaving IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aspartic endopeptidase activity, intramembrane cleaving IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi-associated vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi-associated vesicle membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
integral component of cytoplasmic side of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of cytoplasmic side of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of lumenal side of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of lumenal side of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane HDA PubMed 
lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
signal peptide peptidase-like 2A
Names
IMP-3
SPP-like 2A
intramembrane cleaving protease
intramembrane protease 3
presenilin-like protein 2
NP_116191.2
XP_005254779.1
XP_016878169.1
XP_016878170.1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_032802.4NP_116191.2  signal peptide peptidase-like 2A precursor

    See identical proteins and their annotated locations for NP_116191.2

    Status: REVIEWED

    Source sequence(s)
    AA988423, AC012100, AK027446, AY169314
    Consensus CDS
    CCDS10138.1
    UniProtKB/Swiss-Prot
    Q8TCT8
    Related
    ENSP00000261854.5, ENST00000261854.10
    Conserved Domains (2) summary
    cd02129
    Location:41160
    PA_hSPPL_like; PA_hSPPL_like: Protease-associated domain containing human signal peptide peptidase-like (hSPPL)-like. This group contains various PA domain-containing proteins similar to hSPPL2a and 2b. These SPPLs are GxGD aspartic proteases. SPPL2a is sorted to the ...
    pfam04258
    Location:210496
    Peptidase_A22B; Signal peptide peptidase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    50702266..50765712 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254722.3XP_005254779.1  signal peptide peptidase-like 2A isoform X1

    Conserved Domains (2) summary
    cd02129
    Location:41160
    PA_hSPPL_like; PA_hSPPL_like: Protease-associated domain containing human signal peptide peptidase-like (hSPPL)-like. This group contains various PA domain-containing proteins similar to hSPPL2a and 2b. These SPPLs are GxGD aspartic proteases. SPPL2a is sorted to the ...
    pfam04258
    Location:210514
    Peptidase_A22B; Signal peptide peptidase
  2. XM_017022681.1XP_016878170.1  signal peptide peptidase-like 2A isoform X3

  3. XM_017022680.1XP_016878169.1  signal peptide peptidase-like 2A isoform X2

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