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SPPL2B signal peptide peptidase like 2B [ Homo sapiens (human) ]

Gene ID: 56928, updated on 17-Jun-2019

Summary

Official Symbol
SPPL2Bprovided by HGNC
Official Full Name
signal peptide peptidase like 2Bprovided by HGNC
Primary source
HGNC:HGNC:30627
See related
Ensembl:ENSG00000005206 MIM:608239
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
IMP4; PSH4; PSL1; IMP-4
Summary
This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 13.2), duodenum (RPKM 10.9) and 25 other tissues See more
Orthologs

Genomic context

See SPPL2B in Genome Data Viewer
Location:
19p13.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (2328571..2355095)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2328629..2355100)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene PEAK family member 3 Neighboring gene uncharacterized LOC101928572 Neighboring gene leucine rich repeat and Ig domain containing 3 Neighboring gene LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated Neighboring gene transmembrane serine protease 9 Neighboring gene origin of replication adjacent to lamin B2 Neighboring gene translocase of inner mitochondrial membrane 13 Neighboring gene lamin B2

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
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's 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

Clone Names

  • FLJ99014, KIAA1532, MGC111084

Gene Ontology Provided by GOA

Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
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 
actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
centrosome IDA
Inferred from Direct Assay
more info
 
endosome membrane IDA
Inferred from Direct Assay
more info
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 
lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
signal peptide peptidase-like 2B
Names
SPP-like 2B
intramembrane protease 4
presenilin homologous protein 4
presenilin-like protein 1
NP_001070706.1
NP_694533.1
XP_011526440.1
XP_011526441.1
XP_011526442.1
XP_016882505.1
XP_016882506.1
XP_016882507.1
XP_016882508.1
XP_024307387.1

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.

Genomic

  1. NG_032984.1 RefSeqGene

    Range
    5001..31473
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001077238.2NP_001070706.1  signal peptide peptidase-like 2B isoform 3 precursor

    See identical proteins and their annotated locations for NP_001070706.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, compared to variant 2, resulting in an early stop codon. The encoded isoform (3) is shorter and has a distinct C-terminus compared to isoform 2.
    Source sequence(s)
    AB040965, BC028391, BC093046, BU733058
    Consensus CDS
    CCDS74253.1
    UniProtKB/Swiss-Prot
    Q8TCT7
    Related
    ENSP00000478510.1, ENST00000610743.4
    Conserved Domains (2) summary
    cd02129
    Location:44163
    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:213505
    Peptidase_A22B; Signal peptide peptidase
  2. NM_152988.3NP_694533.1  signal peptide peptidase-like 2B isoform 2 precursor

    See identical proteins and their annotated locations for NP_694533.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the shorter transcript but encodes the longer isoform (2).
    Source sequence(s)
    AB040965, BC093046, BU733058
    Consensus CDS
    CCDS74252.1
    UniProtKB/Swiss-Prot
    Q8TCT7
    Related
    ENSP00000478298.1, ENST00000613503.5
    Conserved Domains (3) summary
    cd02129
    Location:44163
    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:213505
    Peptidase_A22B; Signal peptide peptidase
    cl25865
    Location:519591
    Trypan_PARP; Procyclic acidic repetitive protein (PARP)

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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    2328571..2355095
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528138.2XP_011526440.1  signal peptide peptidase-like 2B isoform X1

    Conserved Domains (2) summary
    cd02129
    Location:71190
    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:239531
    Peptidase_A22B; Signal peptide peptidase
  2. XM_017027016.1XP_016882505.1  signal peptide peptidase-like 2B isoform X2

  3. XM_017027017.1XP_016882506.1  signal peptide peptidase-like 2B isoform X3

    Conserved Domains (1) summary
    pfam04258
    Location:82374
    Peptidase_A22B; Signal peptide peptidase
  4. XM_017027019.1XP_016882508.1  signal peptide peptidase-like 2B isoform X5

  5. XM_011528139.2XP_011526441.1  signal peptide peptidase-like 2B isoform X3

    Conserved Domains (1) summary
    pfam04258
    Location:82374
    Peptidase_A22B; Signal peptide peptidase
  6. XM_017027018.2XP_016882507.1  signal peptide peptidase-like 2B isoform X4

  7. XM_024451619.1XP_024307387.1  signal peptide peptidase-like 2B isoform X7

    Conserved Domains (2) summary
    pfam04258
    Location:86299
    Peptidase_A22B; Signal peptide peptidase
    cl25865
    Location:295385
    Trypan_PARP; Procyclic acidic repetitive protein (PARP)
  8. XM_011528140.1XP_011526442.1  signal peptide peptidase-like 2B isoform X6

    Conserved Domains (1) summary
    pfam04258
    Location:11303
    Peptidase_A22B; Signal peptide peptidase

RNA

  1. XR_001753721.1 RNA Sequence

  2. XR_001753720.2 RNA Sequence

  3. XR_002958334.1 RNA Sequence

  4. XR_001753719.1 RNA Sequence

  5. XR_001753722.1 RNA Sequence

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